2,287 results match your criteria Blood Cells Mol. Dis.[Journal]


Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity.

Blood Cells Mol Dis 2020 Jun 27;85:102461. Epub 2020 Jun 27.

Institute for Molecular and Cell Biology (IBMC), i3S (Instituto de Investigação e Inovação em Saúde), Universidade do Porto, Porto, Portugal; Clinical Hematology, Santo António Hospital - Porto University Hospital Center (CHUP), Porto, Portugal; Molecular Pathology and Immunology, Abel Salazar Institute for Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal. Electronic address:

Subnormal IgG1 or IgG3 levels occurred in 30% of hemochromatosis probands with HFE p.C282Y homozygosity and were concordant in HLA-identical siblings. We sought to identify factors associated with IgG subclasses in Alabama probands with p. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102461DOI Listing

Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.

Blood Cells Mol Dis 2020 Jun 25;85:102462. Epub 2020 Jun 25.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102462DOI Listing

Effects of Eupalinilide E and UM171, alone and in combination on cytokine stimulated ex-vivo expansion of human cord blood hematopoietic stem cells.

Blood Cells Mol Dis 2020 Jun 1;84:102457. Epub 2020 Jun 1.

Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, IN 46202-5181, United States of America. Electronic address:

Eupalinilide E was assessed for ex-vivo expansion activity on hematopoietic stem cells (HSCs) from human cord blood (CB) CD34 cells in serum-free, SCF, TPO and FL stimulated 7 day cultures. Eupalinilide E ex-vivo enhanced phenotyped (p) HSCs and glycolysis of CD34 cells isolated 7 days after culture as measured by extracellular acidification rate, but did not alone show enhanced NSG engrafting capability of HSCs as determined by chimerism and numbers of SCID Repopulating cells, a quantitative measure of functional human HSCs. This is another example of pHSCs not necessarily recapitulating functional activity of these cells. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102457DOI Listing

Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation.

Blood Cells Mol Dis 2020 Jun 8;84:102458. Epub 2020 Jun 8.

Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas - UNICAMP, Campinas, SP 13083-875, Brazil. Electronic address:

Sickle cell disease (SCD) is a group of disorders whose common characteristic is the presence of hemoglobin (Hb) S in erythrocytes. The main consequence of this abnormality is vaso-occlusion, which can affect almost all organs including the placenta. This study aimed to evaluate the gene expression profile in placentas of women with SCD by means of total RNA sequencing. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102458DOI Listing

ANKHD1 is an S phase protein required for histone synthesis and DNA repair in multiple myeloma cells.

Blood Cells Mol Dis 2020 Jun 9;84:102460. Epub 2020 Jun 9.

Hematology and Hemotherapy Center-University of Campinas/Hemocentro-Unicamp, Instituto Nacional de Ciência e Tecnologia do Sangue, Campinas, Brazil.

ANKHD1 is highly expressed in various cancers such as leukemia and multiple myeloma. Silencing of ANKHD1 expression leads to decreased cell proliferation and accumulation of cells at the S phase. In this study we found ANKHD1 expression to be higher at the S phase, suggesting it to be an S phase protein. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102460DOI Listing

Hypoxia induced up-regulation of tissue factor is mediated through extracellular RNA activated Toll-like receptor 3-activated protein 1 signalling.

Blood Cells Mol Dis 2020 Jun 11;84:102459. Epub 2020 Jun 11.

Defence Institute of Physiology and Allied Sciences, Timarpur, Delhi, India; Fiji School of Medicine, Fiji National University, Fiji Islands. Electronic address:

Sterile Inflammation (SI), a condition where damage associated molecular patterns (DAMPs) released from dying cells, leads to TLR (Toll-like receptor) activation and triggers hypoxemia in circulation leading to venous thrombosis (VT) through tissue factor (TF) activation, but its importance under acute hypoxia (AH) remains unexplored. Thus, we hypothesized that eRNA released from dying cells under AH activates TF via the TLR3-ERK1/2-AP1 pathway, leading to VT. Animals were exposed to stimulate hypoxia for 0-24 h at standard temperature and humidity. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287429PMC

Sickle cell disease clinical phenotypes in Nigeria: A preliminary analysis of the Sickle Pan Africa Research Consortium Nigeria database.

Blood Cells Mol Dis 2020 Apr 23;84:102438. Epub 2020 Apr 23.

Centre of Excellence for Sickle Cell Disease Research & Training, University of Abuja (CESRTA), Abuja, Federal Capital Territory, Nigeria. Electronic address:

Background/objective: Sickle cell disease (SCD) is a monogenic disease with multiple phenotypic expressions. Previous studies describing SCD clinical phenotypes in Nigeria were localized, with limited data, hence the need to understand how SCD varies across Nigeria.

Method: The Sickle Pan African Research Consortium (SPARCO) with a hub in Tanzania and collaborative sites in Tanzania, Ghana and Nigeria, is establishing a single patient-consented electronic database with a target of 13,000 SCD patients. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102438DOI Listing
April 2020
2.646 Impact Factor

Autoimmune pancytopenia following chronic immune thrombocytopenia: Case report and literature review.

Blood Cells Mol Dis 2020 May 29;84:102455. Epub 2020 May 29.

Division of Hematology, Department of Medicine, Valduce Hospital, Como, Italy.

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http://dx.doi.org/10.1016/j.bcmd.2020.102455DOI Listing

Comparative analysis of lentiviral gene transfer approaches designed to promote fetal hemoglobin production for the treatment of β-hemoglobinopathies.

Blood Cells Mol Dis 2020 May 29;84:102456. Epub 2020 May 29.

University Children's Clinic Department of Pediatrics I, Hematology and Oncology, University of Tübingen, Germany. Electronic address:

β-Hemoglobinopathies are among the most common single-gene disorders and are caused by different mutations in the β-globin gene. Recent curative therapeutic approaches for these disorders utilize lentiviral vectors (LVs) to introduce a functional copy of the β-globin gene into the patient's hematopoietic stem cells. Alternatively, fetal hemoglobin (HbF) can reduce or even prevent the symptoms of disease when expressed in adults. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102456DOI Listing

Comparison of CRP and procalcitonin for etiological diagnosis of fever during febrile neutropenia in hematology patients- an experience from a tertiary care center in Northern India.

Blood Cells Mol Dis 2020 May 14;84:102445. Epub 2020 May 14.

Department of Hematology, All India Institute of Medical Sciences (A.I.I.M.S), New Delhi, India.

Introduction: Febrile neutropenia is a common cause in morbidity and mortality during treatment of hematological neoplasms.

Methods: Subjects included all cases admitted under hematology department with febrile neutropenia from February to June 2018. Each febrile episode was investigated by standard investigations (Blood culture, Chest x ray etc. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102445DOI Listing

Biomedical article authorship: A proposal to enhance the meaningful assignment of authorship.

Blood Cells Mol Dis 2020 May 23;84:102454. Epub 2020 May 23.

Medicine and of Biochemistry and Biophysics, James P. Wilmot Cancer Institute, University of Rochester Medical Center, 610 Elmwood Avenue, Box MED, Rochester, NY 14642-0001, USA. Electronic address:

The authorship of articles in biomedical journals has proliferated despite efforts of publishers and editors to require justification of authorship. A proposal is made, herein, to resolve that matter by applying the "one paper: one citation" concept, so as to adhere to the thermodynamic principle of conservation of mass. This proposal provides (i) a means to allow authors to agree on their relative contribution, (ii) an incentive to assign only significant contributors to authorship, and (iii) the appropriate fractional contribution of each author when there are multiple authors. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102454DOI Listing

EPAS1 regulates proliferation of erythroblasts in chronic mountain sickness.

Blood Cells Mol Dis 2020 May 19;84:102446. Epub 2020 May 19.

Department of Rheumatology, Affiliated Hospital of Qinghai University, Xining, China. Electronic address:

Excessive erythrocytosis (EE) is a characteristic of chronic mountain sickness (CMS). Currently, the pathogenesis of CMS remains unclear. This study was intended to investigate the role of EPAS1 in the proliferation of erythroblasts in CMS. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102446DOI Listing

Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.

Blood Cells Mol Dis 2020 May 18;84:102444. Epub 2020 May 18.

Department of Pharmacology - Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, Brazil. Electronic address:

Background: Five main genes are associated with hemochromatosis; however, current studies show that, in addition to these genes, others may be associated with primary iron overload (IO). One of these is the bone morphogenetic protein 6 (BMP6), which encodes a protein that modulates hepcidin synthesis and, consequently, iron homeostasis.

Aim: To identify BMP6 gene pathogenic variants in patients with IO and non-homozygous genotype for the HFE p. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102444DOI Listing

Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia.

Blood Cells Mol Dis 2020 Jul 13;83:102436. Epub 2020 Apr 13.

Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal; Instituto de Saúde Ambiental (ISAMB), Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal. Electronic address:

We investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102436DOI Listing

Cytogenetic profile and outcome of a pediatric acute promyelocytic leukemia patient presenting with isolated isochromosome 17q in absence of RARA rearrangement.

Blood Cells Mol Dis 2020 May 3:102443. Epub 2020 May 3.

Department of Pediatric Oncology, Tata Memorial Hospital, Dr. E. Borges Road, Parel, Mumbai 400012, India; Homi Bhabha National Institute (HBNI), Anushaktinagar, Mumbai 400094, India.

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http://dx.doi.org/10.1016/j.bcmd.2020.102443DOI Listing

The IL-33 Receptor/ST2 acts as a positive regulator of functional mouse bone marrow hematopoietic stem and progenitor cells.

Blood Cells Mol Dis 2020 May 5;84:102435. Epub 2020 May 5.

Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, IN, United States of America. Electronic address:

There is a paucity of information on a potential role for the IL-33 receptor/ST2 in the regulation of mouse bone marrow (BM) hematopoietic stem (HSC) and progenitor (HPC) cells. Comparing the BM of st2 and wild type (WT) control mice using functional assays, it was found that st2 BM cells had poorer engrafting capacity than WT BM in a competitive repopulating assay using congenic mice, with no changes in reconstitution of B-, T- and myeloid cells following transplantation. The BM of st2 mice also had fewer granulocyte-macrophage, erythroid, and multipotential progenitors than that of WT BM and these st2 HPC were in a slow cycling state compared to that of the rapidly cycling HPC of the WT mice. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102435DOI Listing

Differential response to FEIBA is strongly associated with the prothrombotic microparticles.

Blood Cells Mol Dis 2020 Apr 26;84:102441. Epub 2020 Apr 26.

National Institute of Immunohematology (NIIH-ICMR), 13th floor, KEM Hospital, Parel, Mumbai 400012, India. Electronic address:

Background: Treatment of patients with hemophilia with an inhibitor is generally done using bypassing agents (BPA), wherein variability in response is observed. Due to lack of validated laboratory assays, monitoring is being carried out by clinical response only. Emerging biomarkers like procoagulant microparticles (MPs) may prove to be promising. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102441DOI Listing

The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.

Blood Cells Mol Dis 2020 Apr 26;84:102442. Epub 2020 Apr 26.

Department of Hematology, The 923(rd) Hospital of the Joint Logistics Support Force of the People's Liberation Army, Nanning, China. Electronic address:

Thalidomide has been shown to reactivate fetal hemoglobin (HbF) production and reduce the need for blood transfusions in β-thalassemia patients. However, some patients show a minor response or no response to thalidomide. In view of its potential side effects, targeted prescription of thalidomide is imperative. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102442DOI Listing

Facing COVID-19 in the hematopoietic cell transplant setting: A new challenge for transplantation physicians.

Blood Cells Mol Dis 2020 07 11;83:102439. Epub 2020 Apr 11.

Department of Medicine, Division of Hematology and Oncology, University of Massachusetts Medical School, Worcester, MA, United States of America.

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http://dx.doi.org/10.1016/j.bcmd.2020.102439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151275PMC

Consequences of parenteral iron-dextran loading investigated in minipigs. A new model of transfusional iron overload.

Blood Cells Mol Dis 2020 Jul 19;83:102440. Epub 2020 Apr 19.

Biomedical Research Laboratory, Aalborg University Hospital, Aalborg, Denmark; Department of Cardiothoracic Surgery, Aalborg University Hospital, Aalborg, Denmark.

Patients with blood transfusion-dependent anemias develop transfusional iron overload (TIO), which may cause cardiosiderosis. In patients with an ineffective erythropoiesis, such as thalassemia major, common transfusion regimes aim at suppression of erythropoiesis and of enteral iron loading. Recent data suggest that maintaining residual, ineffective erythropoiesis may protect from cardiosiderosis. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102440DOI Listing

Increased expression of CD8 marker on T-cells in COVID-19 patients.

Blood Cells Mol Dis 2020 07 13;83:102437. Epub 2020 Apr 13.

Molecular and Medicine Research Center, Department of Microbiology and Immunology, School of Medicine, Arak University of Medical Sciences, Arak, Iran; Traditional and Complementary Medicine Research Center (TCMRC), Department of Microbiology and Immunology, School of Medicine, Arak University of Medical Sciences, Arak, Iran. Electronic address:

Background: Cell-mediated immunity including T-cells (T helper and cytotoxic) plays an essential role in efficient antiviral responses against coronavirus disease-2019 (COVID-19). Therefore, in this study, we evaluated the ratio and expression of CD4 and CD8 markers in COVID-19 patients to clarify the immune characterizations of CD4 and CD8 T-cells in COVID-19 patients.

Methods: Peripheral blood samples of 25 COVID-19 patients and 25 normal individuals with similar age and sex as the control group were collected. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194879PMC

KLF1/EKLF expression in acute leukemia is correlated with chromosomal abnormalities.

Blood Cells Mol Dis 2020 Jul 13;83:102434. Epub 2020 Apr 13.

Department of Cell, Developmental, & Regenerative Biology, Black Family Stem Cell Institute, Tisch Cancer Institute, Mount Sinai School of Medicine, New York, NY, USA. Electronic address:

KLF1 (EKLF) is a master regulator of erythropoiesis and controls expression of a wide array of target genes. We interrogated human tissue microarray samples via immunohistological analysis to address whether levels of KLF1 protein are associated with leukemia. We have made the unexpected findings that higher KLF1 levels are correlated with cells containing abnormal chromosomes, and that high KLF1 expression is not limited to acute myeloid leukemia (AML) associated with erythroid/megakaryoblastic differentiation. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269198PMC
July 2020
2.646 Impact Factor

The effect of transfusion on immune responses in thalassemia.

Blood Cells Mol Dis 2020 Jul 31;83:102425. Epub 2020 Mar 31.

Thalassemia and Sickle Cell Disease Center, Laiko General Hospital, Athens, Greece.

Background: Regular transfusions are the gold standard therapy for β-thalassemia and are often complicated by secondary-iron overload and alloimmunization. We assessed the frequency of regulatory T cells (Tregs) and the levels of cytokines implicated in Th-responses in 49 patients 33 TDT and 16 NTDT in order to investigate the contribution of transfusion and its complications on immune responses.

Materials And Methods: Tregs were characterized with flow cytometry. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102425DOI Listing

Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.

Blood Cells Mol Dis 2020 Jul 9;83:102423. Epub 2020 Mar 9.

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico. Electronic address:

Introduction: Molecular analysis in haemophilia is currently used in the diagnosis, treatment and prognosis of this disease. Hispanic populations in Latin America have been of interest to researchers due to the reportedly high prevalence of inhibitors in these patients.

Aim: To perform next-generation sequencing (NGS) in a cohort of Mexican patients with HA and HB and correlate with clinical phenotypes. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102423DOI Listing

Lysophosphatidic acid-induced pro-thrombotic phosphatidylserine exposure and ionophore-induced microvesiculation is mediated by the scramblase TMEM16F in erythrocytes.

Blood Cells Mol Dis 2020 Jul 17;83:102426. Epub 2020 Mar 17.

Center for Medical Biochemistry, Max Perutz Laboratories, Medical University of Vienna, Vienna, Austria. Electronic address:

Recent studies indicate that erythrocytes actively modulate blood clotting and thrombus formation. The lipid mediator lysophosphatidic acid (LPA) is produced by activated platelets, and triggers a signaling process in erythrocytes. This results in cellular calcium uptake and exposure of phosphatidylserine (PS) at the cell surface, thereby generating activated membrane binding sites for factors of the clotting cascade. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102426DOI Listing

Sirolimus for treatment of refractory primary warm autoimmune hemolytic anemia in children.

Blood Cells Mol Dis 2020 Jul 16;83:102427. Epub 2020 Mar 16.

Division of Hematology, Oncology and Stem Cell Transplantation, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.bcmd.2020.102427DOI Listing

Leukocyte adhesion to P-selectin and the inhibitory role of Crizanlizumab in sickle cell disease: A standardized microfluidic assessment.

Blood Cells Mol Dis 2020 Jul 10;83:102424. Epub 2020 Mar 10.

Department of Mechanical and Aerospace Engineering, Case Western Reserve University, Cleveland, OH 44106, USA; Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

Upregulated expression of P-selectin on activated endothelium and platelets significantly contributes to the initiation and progression of vaso-occlusive crises (VOC), a major cause of morbidity in sickle cell disease (SCD). Crizanlizumab (ADAKVEO®), a humanized monoclonal antibody against P-selectin, primarily inhibits the interaction between leukocytes and P-selectin, and has been shown to decrease the frequency of VOCs in clinical trials. However, the lack of reliable in vitro assays that objectively measure leukocyte adhesion to P-selectin remains a critical barrier to evaluating and improving the therapeutic treatment in SCD. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246173PMC

Characterisation of a mitochondrial glutamine transporter provides a new opportunity for targeting glutamine metabolism in acute myeloid leukaemia.

Authors:
Francesco Dernie

Blood Cells Mol Dis 2020 Mar 11:102422. Epub 2020 Mar 11.

Merton College, University of Oxford, Oxford OX1 4JD, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2020.102422DOI Listing

Association of mast cells and bone marrow reticulin fibrosis in patients with bcr-abl negative chronic myeloproliferative neoplasms.

Authors:
Hakan Keski

Blood Cells Mol Dis 2020 05 5;82:102420. Epub 2020 Mar 5.

Department of Internal Medicine, Division of Hematology, Kocaeli University, Kocaeli, Turkey. Electronic address:

Background: We aimed to investigate the association of bone marrow mast cell numbers (MCN) and the degree of reticulin fibrosis in patients with chronic myeloproliferative neoplasms (MPN).

Methods: This was a case-control study that recruited 47 patients who were diagnosed with bcr-abl negative MPN. Thirty patients with lymphoma served as controls. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102420DOI Listing

PEST domain NOTCH mutations confer a poor relapse free survival in pediatric T-ALL: Data from a tertiary care centre in India.

Blood Cells Mol Dis 2020 05 5;82:102419. Epub 2020 Mar 5.

Pediatric Hematology-Oncology Unit, Dept. of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

A comprehensive genotype-phenotype analysis of pediatric T-ALL data was performed. 33 confirmed pediatric (≤12 y) T-ALL samples were evaluated for oncogenic transcripts: TLX-1, TLX-3, common fusion of STIL-TAL1, NOTCH1 mutations and copy number variations (CNVs). Mean WBC was 235. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102419DOI Listing
May 2020
2.646 Impact Factor

Down-regulation of lncRNA NEAT1 regulated by miR-194-5p/DNMT3A facilitates acute myeloid leukemia.

Blood Cells Mol Dis 2020 05 24;82:102417. Epub 2020 Feb 24.

State Key Laboratory for Manufacturing Systems Engineering, Xi'an Jiaotong University, Xi'an 710054, PR China. Electronic address:

Objective: miR-194-5p and NEAT1 have been reported to be associated with multiple malignancies, but their roles in acute myeloid leukemia (AML) remains not fully understood.

Methods: Bone marrow samples were collected for monocyte separation. qRT-PCR assay was performed to investigate the expression patterns of NEAT1 and miR-194-5p in AML. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102417DOI Listing

Targeted gene expression study using TaqMan low density array to gain insights into venous thrombo-embolism (VTE) pathogenesis at high altitude.

Blood Cells Mol Dis 2020 05 7;82:102421. Epub 2020 Mar 7.

Defence Institute of Physiology and Allied Sciences (DIPAS), Defence Research and Development Organization (DRDO), Lucknow Road, Timarpur, Delhi 110054, India.

Venous thrombo-embolism (VTE) is multi-factorial disease involving several genetic and acquired risk factors responsible for its onset. It may occur spontaneously upon climbing at High Altitude (HA). Several studies demonstrated that hypoxic conditions prevailing at HA pose an independent risk factor for VTE; however, molecular mechanism remains unknown. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102421DOI Listing
May 2020
2.646 Impact Factor

BRAF V600E mutation in childhood Langerhans cell histiocytosis correlates with multisystem disease and poor survival.

Blood Cells Mol Dis 2020 05 30;82:102356. Epub 2019 Aug 30.

Department of Paediatrics, India. Electronic address:

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia of children with systemic involvement and poor outcome. The altered RAS-RAF-MEK-ERK cell signalling pathway due to somatic mutation of BRAF V600E is the most common genetic abnormality associated with the disease. In the current study, we highlight the frequency of BRAF V600E in our cohort of LCH cases (n = 31) and its relation with clinical outcome. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102356DOI Listing
May 2020
2.646 Impact Factor

The association between vitamin D deficiency and hospitalization outcomes in pediatric patients with sickle cell disease.

Blood Cells Mol Dis 2020 05 15;82:102415. Epub 2020 Feb 15.

Pediatric Hematology-Oncology, New York-Presbyterian Brooklyn Methodist Hospital, 506 6th Street, Brooklyn, NY 11215, United States of America. Electronic address:

Background: While there is a known association between low vitamin D levels and increased chronic pain in patients with Sickle Cell Disease (SCD), there are no reported studies evaluating the relationship of vitamin D levels and hospitalization outcomes in this population. The aim of this study was to assess this relationship with hospitalization outcomes defined as the number of emergency room (ER) visits, hospital admissions for pain crisis, and length of hospital stay.

Design: A retrospective chart review of all pediatric patients with SCD (1-21 years old) was performed from January 2015 to January 2016 in an urban-based hospital setting (n = 134). Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102415DOI Listing

Open-label, expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy.

Blood Cells Mol Dis 2020 05 24;82:102418. Epub 2020 Feb 24.

Gaucher Unit, Shaare Zedek Medical Center, Affiliated with the Hebrew University University-Hadassah Medical School, Jerusalem, Israel. Electronic address:

A multicenter, open-label, expanded-access study followed the safety of taliglucerase alfa, a plant cell-expressed recombinant enzyme replacement therapy (ERT), in adults with Gaucher disease previously treated with imiglucerase. Patients received taliglucerase alfa every 2 weeks for 9 months at a dose equivalent to their previous imiglucerase dose (Part A); patients were offered treatment for up to 33 months (Part B), and a later amendment allowed treatment-naïve patients. Fifty-eight patients received taliglucerase alfa (55. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102418DOI Listing

Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants.

Blood Cells Mol Dis 2020 05 8;82:102413. Epub 2020 Feb 8.

Departamento de Patologia Clínica e Anatomia Patológica, Hospital Israelita Albert Einstein, São Paulo, Brazil.

Hereditary Xerocytosis (HX) is an autosomal dominantly inherited congenital hemolytic anemia associated with erythrocyte dehydration due to decreased intracellular potassium content resulting in increased mean corpuscular hemoglobin concentration. The affected members of HX families show compensated anemia with splenomegaly, hemosiderosis, and perinatal edema but are in large part transfusion independent. Functional studies show a link between mutations in mechanosensitive ion channel, encoded by PIEZO1 gene and the HX. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102413DOI Listing

Mutation profile of JAK2, EPOR and CALR genes in polycythemia patients.

Blood Cells Mol Dis 2020 05 11;82:102414. Epub 2020 Feb 11.

Centre for Nanosciences and Molecular Medicine, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi 682041, India. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2020.102414DOI Listing

Thrombin generation in plasma of patients with haemophilia A and B with inhibitors: Effects of bypassing agents and antithrombin reduction.

Blood Cells Mol Dis 2020 05 11;82:102416. Epub 2020 Feb 11.

National Hemophilia Center, Sheba Medical Center, Tel Hashomer 52621, Israel; The Amalia Biron Research Institute of Thrombosis and Hemostasis, Sackler School of Medicine, Tel Aviv University, Tel Hashomer 52621, Israel. Electronic address:

Antithrombin (AT) reduction has been shown to improve thrombin generation (TG) in haemophilia with or without inhibitors. As treatment with bypassing agents (BPAs) may be required in patients with breakthrough bleeding while receiving AT-lowering therapy, we assessed TG in platelet-poor plasma samples from haemophilia patients in the presence of BPA (recombinant activated factor VII [rFVIIa; 1.25 or 2. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102416DOI Listing

Tumor-stroma interaction increases CD147 expression in neoplastic B lymphocytes in chronic lymphocytic leukemia.

Blood Cells Mol Dis 2020 05 16;82:102405. Epub 2020 Jan 16.

Universidad Nacional de Córdoba, Facultad de Ciencias Químicas, Departamento de Bioquímica Clínica, Centro de Investigaciones en Bioquímica Clínica e Inmunología, CIBICI-CONICET, Córdoba, Argentina.

Background: Chronic lymphocytic leukemia (CLL) microenvironment plays a critical role in disease pathogenesis. Matrix metalloproteinases (MMPs) are involved in CLL-B cell migration and survival. CD147 is associated with MMPs production by tumor and stromal cells. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102405DOI Listing

Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346.

Blood Cells Mol Dis 2020 Mar 10;81:102390. Epub 2020 Jan 10.

Renal Division and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, MA, United States of America; Department of Medicine, Harvard Medical School, Boston, MA 02115, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102390DOI Listing

Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant.

Blood Cells Mol Dis 2020 03 2;81:102402. Epub 2020 Jan 2.

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102402DOI Listing

Headache in beta-thalassemia: An Italian multicenter clinical, conventional MRI and MR-angiography case-control study.

Blood Cells Mol Dis 2020 03 31;81:102403. Epub 2019 Dec 31.

Dipartimento di Medicina e Chirurgia, Scuola Medica Salernitana, Sezione di Neuroscienze, Università di Salerno, Salerno, Italy.

Objectives: A strikingly increased headache prevalence was recently noted in Sri Lankan beta-thalassemia patients, raising several concerns regarding long-term neurological involvement in this condition.

Methods: We interviewed on headache occurrence and characteristics 102 Italian beta-thalassemia patients and 129 healthy controls. 3T-MRI, MR-angiography, MR-venography, cognitive and psychiatric findings were considered. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102403DOI Listing

Coagulopathy in cytogenetically and molecularly distinct acute leukemias at diagnosis: Comprehensive study.

Blood Cells Mol Dis 2020 03 30;81:102393. Epub 2019 Nov 30.

Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China. Electronic address:

We analyzed the characteristics of coagulopathy in cytogenetically and molecularly distinct acute leukemias. We retrospectively analyzed 211 adult patients with de novo non-acute promyelocytic leukemia (APL) and acute myeloid leukemia (AML), and 105 newly diagnosed patients with B-cell acute lymphoblastic leukemia (B-ALL). Disseminated intravascular coagulation (DIC) occurrence was assessed according the International Society of Thrombosis and Haemostasis (ISTH) criteria. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102393DOI Listing

Decreased erythrocyte binding of Siglec-9 increases neutrophil activation in sickle cell disease.

Blood Cells Mol Dis 2020 03 20;81:102399. Epub 2019 Dec 20.

Division of Hematology, Oncology and Transplantation, University of Minnesota School of Medicine, Minneapolis, MN, United States of America. Electronic address:

Oxidative stress and inflammation promote vaso-occlusion in sickle cell disease (SCD). CD33-related Sialic acid-binding immunoglobulin-type lectins (CD33rSiglecs) are cell surface proteins that recognize sialic acids inhibit innate immune cell functions. We have shown that Siglec-9 on human neutrophils interact with erythrocyte sialic acids (prominently glycophorin-A (GYPA) to suppress neutrophil reactive oxygen species (ROS). Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002293PMC

Thrombotic microangiopathy after carfilzomib in a very young myeloma patient.

Blood Cells Mol Dis 2020 03 24;81:102400. Epub 2019 Dec 24.

Division of Hematology and Bone Marrow Transplant, Max Super-specialty Hospital, India.

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http://dx.doi.org/10.1016/j.bcmd.2019.102400DOI Listing

Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.

Blood Cells Mol Dis 2020 03 30;81:102391. Epub 2019 Nov 30.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102391DOI Listing
March 2020
2.646 Impact Factor

Cross-sectional analysis of adhesion in individuals with sickle cell disease using a standardized whole blood adhesion bioassay to VCAM-1.

Blood Cells Mol Dis 2020 03 6;81:102397. Epub 2019 Dec 6.

Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, United States of America; Division of Critical Care Medicine, Detroit, MI, United States of America; Department of Physiology, Wayne State University School of Medicine, Detroit, MI, United States of America. Electronic address:

Sickle cell disease (SCD) is characterized by frequent and unpredictable vaso-occlusive episodes (VOEs) that lead to severe pain, organ damage, and early death. Lack of reliable biomarkers that objectively define VOEs remains a critical barrier to improving the care for SCD patients. VOEs result from a complex interplay of cell-cell interactions that promote micro-vascular occlusion. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102397DOI Listing

Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.

Blood Cells Mol Dis 2020 03 11;81:102380. Epub 2019 Nov 11.

Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital Olomouc, I. P. Pavlova 6, 77900 Olomouc, Czech Republic. Electronic address:

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer. Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the Czech and Slovak DBA Registry. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102380DOI Listing