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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/30007855/in-depth-phenotypic-characterization-of-reticulocyte-maturation-using-mass-cytometry
#1
Richard Thomson-Luque, Chengqi Wang, Francis B Ntumngia, Shulin Xu, Karoly Szekeres, Amy Conway, Swamy Rakesh Adapa, Samantha J Barnes, John H Adams, Rays H Y Jiang
Progress towards an in-depth understanding of the final steps of the erythroid lineage development is paramount for many hematological diseases. We have characterized the final stages of reticulocyte maturation from bone marrow to peripheral blood using for the first time single-cell Mass Cytometry (CyTOF). We were able to measure the expression of 31 surface markers within a single red blood cell (RBC). We demonstrate the validity of CyTOF for RBC phenotyping by confirming the progressive reduction of transferrin receptor 1 (CD71) during reticulocyte maturation to mature RBC...
July 4, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29980343/homozygous-klf1-mutation-c-901c-t-p-arg301cys-resulting-in-mild-thalassemia-intermedia-in-an-indian-a-next-generation-sequencing-diagnosis
#2
LETTER
Neetu Rani, Manu Jamwal, Jasbir Kaur, Prashant Sharma, Pankaj Malhotra, Arindam Maitra, Ranvir Singh, Reena Das
No abstract text is available yet for this article.
June 28, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29945823/unraveling-the-effects-of-an-oxygen-shock-on-cord-blood-units
#3
LETTER
Sonia Néron, Diane Fournier, Marc Cloutier, Josée Laganière, Louis Thibault, Carl Simard
No abstract text is available yet for this article.
June 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29891442/combining-information-on-c-reactive-protein-and-serum-albumin-into-the-glasgow-prognostic-score-strongly-discriminates-survival-of-myelofibrosis-patients
#4
LETTER
Marko Lucijanic, David Cicic, Tajana Stoos-Veic, Vlatko Pejsa, Dario Rahelic, Tomo Lucijanic, Tamara Vasilj, Marija Ivic, Martina Sedinic, Rajko Kusec
No abstract text is available yet for this article.
June 6, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29880417/acute-neonatal-bilirubin-encephalopathy-in-the-state-of-utah-2009-2018
#5
Robert D Christensen, Archana M Agarwal, Tracy I George, Vinod K Bhutani, Hassan M Yaish
Herein we report a case series of seven newborn infants, all apparently well at birth, who in the period since 2009 were cared for in the State of Utah with acute bilirubin encephalopathy (ABE). This report summarizes our attempts to define common features of these seven through a state-wide voluntary registry, as a step toward devising new means of preventing such cases in the future. In previous reports of ABE, many of the affected neonates had no clearly defined explanation for their progressive hyperbilirubinemia...
May 23, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29778312/biomarker-signatures-of-sickle-cell-disease-severity
#6
Mengtian Du, Sarah Van Ness, Victor Gordeuk, Sayed M Nouraie, Sergei Nekhai, Mark Gladwin, Martin H Steinberg, Paola Sebastiani
Identifying sickle cell disease patients at high risk of complications could lead to personalized treatment and better prognosis but despite many advances prediction of the clinical course of these patients remains elusive. We propose a system-type approach to discover profiles of multiple, common biomarkers that correlate with morbidity and mortality in sickle cell disease. We used cluster analysis to discover 17 signatures of 17 common circulating biomarkers in 2320 participants of the Cooperative Study of Sickle Cell Disease, and evaluated the association of these signatures with risk for stroke, pain, leg ulceration, acute chest syndrome, avascular necrosis, seizure, death, and trend of fetal hemoglobin and hemolysis using longitudinally collected data...
May 16, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29703677/concomitant-calr-and-lnk-mutations-leading-to-essential-thrombocythemia-with-erythrocytosis
#7
LETTER
Damien Luque Paz, Françoise Boyer, Annaëlle Beucher, Anne Bouvier, Rebecca Jouanneau-Courville, Philippe Guardiola, Diane Lambert, Yves Delneste, Mathilde Hunault, Odile Blanchet, Valérie Ugo
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29680197/safety-efficacy-and-authorization-of-eliglustat-as-a-first-line-therapy-in-gaucher-disease-type-1
#8
LETTER
Pramod K Mistry, Manisha Balwani, Hagit N Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F Cox, Sumita Danda, Marta Dragosky, Guillermo Drelichman, Amal El-Beshlawy, Cristina Fraga, Selena Freisens, Sebastiaan Gaemers, Evgueniy Hadjiev, Priya S Kishnani, Elena Lukina, Pierre Maison-Blanche, Ana Maria Martins, Gregory Pastores, Milan Petakov, M Judith Peterschmitt, Hanna Rosenbaum, Barry Rosenbloom, Lisa H Underhill, Timothy M Cox
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29599085/fetal-presentation-of-congenital-dyserythropoietic-anemia-type-1-with-novel-compound-heterozygous-cdan1-mutations
#9
Jessica A Meznarich, Lauren Draper, Robert D Christensen, Hassan M Yaish, Nick D Luem, Theodore J Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M Ward
The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29599084/red-blood-cells-compasses-and-snap-shots
#10
REVIEW
Joseph F Hoffman
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29550053/early-initiation-of-inhaled-corticosteroids-does-not-decrease-acute-chest-syndrome-morbidity-in-pediatric-patients-with-sickle-cell-disease
#11
Alexis Leonard, Nihal Godiwala, Nicole Herrera, Robert McCarter, Matthew Sharron, Emily Riehm Meier
Acute chest syndrome (ACS) is a leading cause of mortality in patients with sickle cell disease (SCD). Systemic corticosteroids decrease ACS severity, but the risk of readmission for vaso-occlusive crises (VOC) has limited their use. The efficacy of inhaled corticosteroids (ICS) as a safer alternative is currently unknown. An observational, historic cohort study compared patients with SCD with ACS who received ICS at admission (ICS) to those who did not (non-ICS). Outcome measures included rates of transfusion, oxygen requirement, BiPAP initiation, PICU transfer, intubation, readmission, hospital cost, and length of stay...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29544691/f8-inversions-of-introns-22-and-1-confer-a-moderate-risk-of-inhibitors-in-mexican-patients-with-severe-hemophilia-a-concordance-analysis-and-literature-review
#12
Hilda Luna-Záizar, José Ángel González-Alcázar, Natalia Evangelista-Castro, Lilia Beatriz Aguilar-López, Sandra Luz Ruiz-Quezada, Claudia Patricia Beltrán-Miranda, Ana Rebeca Jaloma-Cruz
Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development. We aimed to investigate prevalence of Inv22 and Inv1 mutations, and its association as risk factors for developing inhibitors to FVIII. We investigated Inv22 and Inv1 in 255 SHA Mexican patients from 193 unrelated families using the inverse shifting-polymerase chain reaction (IS-PCR)...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29499877/novel-mutations-in-mitochondrial-carrier-family-gene-slc25a38-causing-congenital-sideroblastic-anemia-in-iranian-families-identified-by-whole-exome-sequencing
#13
Maghsood Mehri, Maryam Zarin, Fariba Ardalani, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury
Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Whole exome sequencing in probands followed by segregation analysis in families was performed. Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29496375/expression-of-aberrantly-spliced-oncogenic-ikaros-isoforms-coupled-with-clonal-ikzf1-deletions-and-chimeric-oncogenes-in-acute-lymphoblastic-leukemia
#14
Volha Vshyukova, Alena Valochnik, Alexander Meleshko
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29496374/sustained-response-to-lenalidomide-for-early-relapsed-marginal-zone-lymphoma
#15
LETTER
Sami Ibrahimi, Gabriel Vidal, Sarbajit Mukherjee, Laith Alhyari, Teresa Scordino, Mohamad Cherry
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29475801/role-of-tissue-specific-promoter-dna-methylation-in-regulating-the-human-eklf-gene
#16
Yihong Li, Dun Liu, Zhiming Li, Xinhua Zhang, Yuhua Ye, Qifa Liu, Jie Shen, Zhi Chen, Huajie Huang, Yunhao Liang, Xu Han, Jing Liu, Xiuli An, Narla Mohandas, Xiangmin Xu
Erythroid Krüppel-like factor (EKLF/KLF1) is an erythroid-specific transcription factor whose activity is essential for erythropoiesis. The underlying mechanisms for EKLF specifically restricted to erythroid cells are of great interest but remain incompletely understood. To explore the epigenetic regulation of EKLF expression by promoter DNA methylation, we investigated the methylation status of the EKLF promoter and EKLF gene expression from a panel of human tissues. We observed that erythroid-specific hypomethylation of the EKLF promoter in adult erythroid cells was positively associated with EKLF expression...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29422232/combinations-of-antioxidants-and-or-of-epigenetic-enzyme-inhibitors-allow-for-enhanced-collection-of-mouse-bone-marrow-hematopoietic-stem-cells-in-ambient-air
#17
Qingchun Cai, Maegan Capitano, Xinxin Huang, Bin Guo, Scott Cooper, Hal E Broxmeyer
Hematopoietic cell transplantation (HCT) is a treatment for malignant and non-malignant disorders. However, sometimes the numbers of donor hematopoietic stem cells (HSC) are limiting, which can compromise the success of HCT. We recently published that collection and processing of mouse bone marrow (BM) and human cord blood cells in a hypoxic atmosphere of 3% O2 or in ambient air (~21% O2 ) in the presence of cyclosporine A yields increased numbers of HSC. We now show that collection and processing of mouse BM cells in ambient air in the presence of specific combinations of anti-oxidants and/or inhibitors of epigenetic enzymes can also enhance the collection of HSC, information of potential relevance for enhanced efficacy of HCT...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29409695/haemoglobin-variants-iron-status-and-anaemia-in-sri-lankan-adolescents-with-low-red-cell-indices-a-cross-sectional-survey
#18
Rexan Rodrigo, Angela Allen, Aresha Manampreri, Luxman Perera, Christopher A Fisher, Stephen Allen, David J Weatherall, Anuja Premawardhena
Iron deficiency complicates the use of red cell indices to screen for carriers of haemoglobin variants in many populations. In a cross sectional survey of 7526 secondary school students from 25 districts of Sri Lanka, 1963 (26.0%) students had low red cell indices. Iron deficiency, identified by low serum ferritin, was the major identifiable cause occurring in 550/1806 (30.5%) students. Low red cell indices occurred in iron-replete students with alpha-thalassaemia including those with single alpha-globin gene deletions...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29402705/treatment-tailoring-for-factor-v-deficient-patients-and-perioperative-management-using-global-hemostatic-coagulation-assays
#19
Sarina Levy-Mendelovich, Assaf Arie Barg, Nurit Rosenberg, Einat Avishai, Jacob Luboshitz, Mudi Misgav, Gili Kenet, Tami Livnat
INTRODUCTION: Congenital factor V deficiency (FVD) is a rare bleeding disorder with an estimated incidence of 1 in 1000,000 in the general population. Since the common coagulation tests do not correlate with the bleeding tendency there is an unmet need to predict FVD patients' bleeding hazard prior to surgical interventions. AIM: To optimize treatment prior to surgical interventions, using global coagulation assays, thrombin generation (TG) and rotating thromboelastogram (ROTEM)...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29395830/labile-plasma-iron-as-an-indicator-of-patient-adherence-to-iron-chelation-treatment
#20
Orna Steinberg-Shemer, Joanne Yacobovich, Miriam Cohen, Ioav Z Cabantchik, Hannah Tamary
Poor adherence of transfusion-dependent patients to chelation treatment is often the cause of persistent iron overload and ensuing morbidity. However, a tool to assess patient compliance with therapy is lacking in clinical practice. Labile plasma iron (LPI, the redox-active component of non-transferrin bound iron) has been studied as an indicator of systemic iron overload and of chelation efficacy, and may particularly reflect recent iron equilibrium. We considered the use of LPI as a potential indicator for recent chelation treatment in 18 transfusion-dependent pediatric patients...
July 2018: Blood Cells, Molecules & Diseases
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