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Blood Cells, Molecules & Diseases

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...
March 7, 2018: Blood Cells, Molecules & Diseases
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)...
February 23, 2018: Blood Cells, Molecules & Diseases
Volha Vshyukova, Alena Valochnik, Alexander Meleshko
No abstract text is available yet for this article.
February 23, 2018: Blood Cells, Molecules & Diseases
Sami Ibrahimi, Gabriel Vidal, Sarbajit Mukherjee, Laith Alhyari, Teresa Scordino, Mohamad Cherry
No abstract text is available yet for this article.
February 23, 2018: Blood Cells, Molecules & Diseases
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...
February 22, 2018: Blood Cells, Molecules & Diseases
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...
February 15, 2018: Blood Cells, Molecules & Diseases
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...
February 5, 2018: Blood Cells, Molecules & Diseases
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...
February 2, 2018: Blood Cells, Molecules & Diseases
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)...
February 2, 2018: Blood Cells, Molecules & Diseases
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...
January 23, 2018: Blood Cells, Molecules & Diseases
Lauren G Banaszak, Valentina Giudice, Xin Zhao, Zhijie Wu, Shouguo Gao, Kohei Hosokawa, Keyvan Keyvanfar, Danielle M Townsley, Fernanda Gutierrez-Rodrigues, Maria Del Pilar Fernandez Ibanez, Sachiko Kajigaya, Neal S Young
DNA methyltransferase 3A (DNMT3A) mediates de novo DNA methylation. Mutations in DNMT3A are associated with hematological malignancies, most frequently acute myeloid leukemia. DNMT3A mutations are hypothesized to establish a pre-leukemic state, rendering cells vulnerable to secondary oncogenic mutations and malignant transformation. However, the mechanisms by which DNMT3A mutations contribute to leukemogenesis are not well-defined. Here, we successfully created four DNMT3A-mutated K562 cell lines with frameshift mutations resulting in truncated DNMT3A proteins...
January 4, 2018: Blood Cells, Molecules & Diseases
Maria Rosa Lidonnici, Giuliana Ferrari
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with an integrating lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Studies and safety works demonstrated the potential therapeutic efficacy and safety of this approach, providing the rationale for clinical translation. The outcomes of early clinical trials, although showing promising results, have highlighted the current limitations to a more general application...
January 3, 2018: Blood Cells, Molecules & Diseases
Tasha A Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J Farrell, Ryo Kurita, Yukio Nakamura, George J Murphy, Shuaiying Cui, Martin H Steinberg, David H K Chui
The HBS1L-MYB intergenic region (chr6q23) regulates erythroid cell proliferation, maturation, and fetal hemoglobin (HbF) expression. An enhancer element within this locus, highlighted by a 3-bp deletion polymorphism (rs66650371), is known to interact with the promoter of the neighboring gene, MYB, to increase its expression, thereby regulating HbF production. RNA polymerase II binding and a 50-bp transcript from this enhancer region reported in ENCODE datasets suggested the presence of a long noncoding RNA (lncRNA)...
March 2018: Blood Cells, Molecules & Diseases
Kourosh Hayatigolkhatmi, Giacomo Padroni, Wu Su, Lijing Fang, Eduardo Gómez-Castañeda, Ya-Ching Hsieh, Lorna Jackson, Tessa L Holyoake, Francesca Pellicano, Glenn A Burley, Heather G Jørgensen
No abstract text is available yet for this article.
March 2018: Blood Cells, Molecules & Diseases
Timothy M Cox, Pramod K Mistry
No abstract text is available yet for this article.
March 2018: Blood Cells, Molecules & Diseases
Raffaella Origa, Susanna Barella, Maria Elisabetta Paglietti, Franco Anni, Fabrice Danjou, Anna Rita Denotti, Maria Franca Desogus, Daniela Loi, Valeria Orecchia, Maria Carla Sollaino, Paolo Moi
Limited information is available on the hematological characterization of the α-thalassemia carrier in pediatric age. The objective of this report was to evaluate the red cell indices according to the α-globin genotype in a cohort of children evaluated in Sardinia. Moreover, we verified the frequency of different α-globin genotypes in this cohort. A total of 453 subjects were investigated for hematological indices and for the most common α-globin defects present in Sardinia. Of them, 352 with HbA2≤3.2%, and no iron deficiency anemia were taken into consideration to evaluate the red cell indices according to the α-globin genotype in pediatric age...
March 2018: Blood Cells, Molecules & Diseases
Ari Zimran, Jack Goldblatt, Jeff Szer
No abstract text is available yet for this article.
February 2018: Blood Cells, Molecules & Diseases
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
February 2018: Blood Cells, Molecules & Diseases
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
February 2018: Blood Cells, Molecules & Diseases
M Baldini, G Casirati, F M Ulivieri, E Cassinerio, K Khouri Chalouhi, E Poggiali, L Borin, V Burghignoli, B M Cesana, M D Cappellini
Gaucher disease is characterized by multi-organ infiltration of phospholipid-laden macrophages. Bone involvement is characterized by typical deformities, osteopenia/osteoporosis, pathological fractures, and bone marrow infiltration (avascular osteonecrosis, infarction). Estimation of skeletal disease includes bone quality that contributes substantially to bone strength. We studied 23 type 1 Gaucher patients (median age 22years, range 3-73) on Enzyme Replacement Therapy from 2months to 26years (median 7years); 4 patients had pathological fractures, 10 bone infarctions, 6 avascular osteonecrosis...
February 2018: Blood Cells, Molecules & Diseases
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