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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/30224298/circba9-3-supports-the-survival-of-leukaemic-cells-by-up-regulating-c-abl1-or-bcr-abl1-protein-levels
#1
Yuming Pan, Jin Lou, Heng Wang, Na An, Huan Chen, Qiaoxia Zhang, Xin Du
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. However, there are still some patients who are not responsive to TKIs. We found that a novel circular RNA (circRNA), named circBA9.3, is derived from BCR-ABL1. CircBA9.3 can efficiently promote the proliferation and inhibit apoptosis of cancer cells...
September 14, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30195626/ultrastructural-changes-in-peripheral-blood-leukocytes-in-%C3%AE-synuclein-knockout-mice
#2
Hammad Tashkandi, Afshin Shameli, Clifford V Harding, Robert W Maitta
Effects of α-synuclein deficiency on cellular blood components have not been extensively investigated. This study evaluated ultrastructural changes of leukocytes in α-synuclein knockout (KO) mice using electron microscopy (EM). The following ultrastructural characteristics were quantified in leukocytes: mitochondria, primary granules, specific granules (SG), Golgi apparatus (GA), inclusions, rough-endoplasmic reticulum (RER), smooth-endoplasmic reticulum (SER), and cellular projections (CP). EM showed increased numbers or amounts of SG, inclusions, and SER in KO group (5...
September 1, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30217760/efficacy-of-the-nordic-and-the-mskcc-chemotherapy-protocols-on-the-overall-and-progression-free-survival-in-intracranial-pcnsl
#3
Michele Da Broi, Guro Jahr, Klaus Beiske, Harald Holte, Torstein R Meling
BACKGROUND: To compare the Nordic and the Memorial Sloan-Kettering Cancer Center (MSKCC) chemotherapy protocols for Overall Survival (OS) and Progression-Free Survival (PFS) for intracranial primary CNS lymphoma (PCNSL). METHODS: A prospective database at Oslo University Hospital of PCNSL was reviewed over a 12-year period (2003-2014). RESULTS: Overall, 79 patients with PCNSL were identified, of whom 57 received chemotherapy. MSKCC with Rituximab (RTX) was used in 18 patients (32%) who had median OS of 46...
August 30, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30190203/a-novel-somatic-calr-mutation-in-essential-thrombocythemia-and-effective-response-to-interferon-alfa-2b-therapy
#4
LETTER
Xueya Zhang, Qichen Zhang, Jingxin Pan
No abstract text is available yet for this article.
August 30, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30195625/adult-onset-hereditary-hemochromatosis-is-associated-with-a-novel-recurrent-hemojuvelin-hjv-gene-mutation-in-north-indians
#5
Barjinderjit Kaur Dhillon, Gunjan Chopra, Manu Jamwal, Giri Raj Chandak, Ajay Duseja, Pankaj Malhotra, Yogesh Kumar Chawla, Gurjeewan Garewal, Reena Das
Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes. Nineteen unrelated north Indian HH patients were detected after screening 258 chronic liver disease patients on the basis of increased transferrin saturation, ferritin levels >1000 ng/L and siderosis by Perl's stain on liver biopsy wherever available. Automated DNA sequencing was performed for the promoters and entire coding exons for HFE, HJV, HAMP, TFR2 and SLC40A1...
August 27, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30195627/the-clinical-features-and-prognosis-of-the-monoclonal-gammopathy-undetermined-significance-a-single-center-study
#6
Ling Ma, Shuang Xu, Lei Wen, Yang Liu, Ying Kang, Xiaojun Huang, Jin Lu
The aim of this study was to identify the clinical features and prognosis of monoclonal gammopathy of undetermined significance (MGUS) in China. This single center study enrolled 111 subjects visited in Peking University People's hospital including 62 males and 49 females. Among them, IgG subtype, IgA subtype and IgM subtype were 56.31%, 28.16%, 5.83% respectively. 10.7% patients had the abnormality of convectional cytogenetic testing, while the interphase fluorescence in situ hybridization (FISH) made the positive rate increased to 18...
August 6, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30120022/exploring-putative-genetic-determinants-of-inter-individual-phenotypic-heterogeneity-in-sickle-cell-disease-a-cross-sectional-jamaican-cohort-based-study
#7
Kwesi Marshall, Sharon Howell, Asha Badaloo, Marvin Reid, Norma McFarlane-Anderson, Colin McKenzie
Patients with sickle cell disease (SCD) display puzzling inter-individual phenotypic heterogeneity, conceivably related to inherent differences in antioxidant protection, hemoglobin binding, bilirubin catabolism and methyl group handling. Therefore, we explored putative associations between clinically important phenotypic measures and functional polymorphisms within specific candidate genes encoding glutathione S-transferase, haptoglobin, uridine 5'-diphospho-glucuronosyltransferase 1A1, methyl tetrahydrofolate reductase, 5-methyltetrahydrofolate-homocysteine methyltransferase, and cystathionine beta-synthase...
August 2, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30078718/a-novel-approach-using-ancillary-tests-to-guide-treatment-of-glanzmann-thrombasthenia-patients-undergoing-surgical-procedures
#8
Assaf Arie Barg, Hagit Hauschner, Mudi Misgav, Aaron Lubetsky, Sarina Levy-Mendelowitz, Tami Livnat, Einat Avishai, Nurit Rosenberg, Gili Kenet
BACKGROUND: Glanzmann thrombasthenia (GT) is a disorder of platelet function. Standard therapy includes platelet transfusions, which may be hampered by antiplatelet antibodies. AIMS: To assess potential correlation between bleeding and number of active platelets in GT patients undergoing surgery. Clinical peri- operative patients' hemostasis was compared with flow cytometry analysis (FC), and whole blood clot formation. METHODS: GT patients undergoing surgery were included...
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30055940/effects-of-genetic-variation-in-protease-activated-receptor-4-after-an-acute-coronary-syndrome-analysis-from-the-tracer-trial
#9
Pierluigi Tricoci, Megan Neely, Michael J Whitley, Leonard C Edelstein, Lukas M Simon, Chad Shaw, Paolo Fortina, David J Moliterno, Paul W Armstrong, Philip Aylward, Harvey White, Frans Van de Werf, Lisa K Jennings, Lars Wallentin, Claes Held, Robert A Harrington, Kenneth W Mahaffey, Paul F Bray
Variation in platelet response to thrombin may affect the safety and efficacy of PAR antagonism. The Thr120 variant of the common single nucleotide polymorphism (SNP) rs773902 in the protease-activated receptor (PAR) 4 gene is associated with higher platelet aggregation compared to the Ala120 variant. We investigated the relationship between the rs773902 SNP with major bleeding and ischemic events, safety, and efficacy of PAR1 inhibition in 6177 NSTE ACS patients in the TRACER trial. There was a lower rate of GUSTO moderate/severe bleeding in patients with the Thr120 variant...
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30033157/serum-haptoglobin-and-hemopexin-levels-are-depleted-in-pediatric-sickle-cell-disease-patients
#10
LETTER
Rayra Pereira Santiago, Caroline Conceição Guarda, Camylla Vilas Boas Figueiredo, Luciana Magalhaes Fiuza, Milena Magalhães Aleluia, Corynne Stephanie Ahouefa Adanho, Magda Oliveira Seixas Carvalho, Thassila Nogueira Pitanga, Dalila Luciola Zanette, Isa Menezes Lyra, Valma Maria Lopes Nascimento, Gregory M Vercellotti, John D Belcher, Marilda Souza Goncalves
No abstract text is available yet for this article.
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30007855/in-depth-phenotypic-characterization-of-reticulocyte-maturation-using-mass-cytometry
#11
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...
September 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
#12
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.
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29945823/unraveling-the-effects-of-an-oxygen-shock-on-cord-blood-units
#13
LETTER
Sonia Néron, Diane Fournier, Marc Cloutier, Josée Laganière, Louis Thibault, Carl Simard
No abstract text is available yet for this article.
September 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
#14
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.
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29880417/acute-neonatal-bilirubin-encephalopathy-in-the-state-of-utah-2009-2018
#15
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...
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29778312/biomarker-signatures-of-sickle-cell-disease-severity
#16
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...
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29703677/concomitant-calr-and-lnk-mutations-leading-to-essential-thrombocythemia-with-erythrocytosis
#17
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
#18
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
#19
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
#20
REVIEW
Joseph F Hoffman
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
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