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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/30391047/metabolic-syndrome-among-adults-living-with-sickle-cell-disease
#1
Foluso Joy Ogunsile, Shawn M Bediako, Julie Nelson, Cody Cichowitz, Tiffany Yu, C Patrick Carroll, Kerry Stewart, Rakhi Naik, Carlton Haywood, Sophie Lanzkron
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. 50 adult SCD participants (ages 21-66 years; 72% female) completed demographic and health behavior surveys, health-related family and personal histories, and anthropometric and laboratory measurements...
October 22, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30389309/variable-expressivity-of-hjv-related-hemochromatosis-juvenile-hemochromatosis
#2
Houda Hamdi-Rozé, Zeineb Ben Ali, Martine Ropert, Lénaïck Detivaud, Samira Aggoune, Dominique Simon, Gilles Pelletier, Yves Deugnier, Véronique David, Edouard Bardou-Jacquet
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. 662 patients with iron overload and high serum transferrin saturation were tested, and five genes (HFE, HJV, HAMP, TFR2, SLC40A1) were sequenced...
October 22, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30340937/detection-of-hfe-haemochromatosis-in-the-clinic-and-community-using-standard-erythrocyte-tests
#3
Niwansa Adris, Simon Hazeldine, Peter Bentley, Debbie Trinder, Anita C G Chua, Lawrie W Powell, Louise E Ramm, Grant A Ramm, John K Olynyk
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...
October 10, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30344086/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
#4
Junghoon Shin, Kisoon Dan, Dohyun Han, Ji-Won Kim, Kyung Kon Kim, Youngil Koh, Dong-Yeop Shin, Junshik Hong, Sung-Soo Yoon, Seonyang Park, Sang Hoon Song, Inho Kim
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. Patients with high levels of these proteins tended to exhibit a higher risk of aGVHD and NRM compared to patients with low levels in post-engraftment plasma samples from an independent validation set (n = 89)...
October 4, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30309760/borderline-hemoglobin-a-2-levels-in-northern-thai-population-hbb-genotypes-and-effects-of-coinherited-alpha-thalassemia
#5
Phumin Chaweephisal, Arunee Phusua, Kanda Fanhchaksai, Supatra Sirichotiyakul, Pimlak Charoenkwan
INTRODUCTION: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A2 level. Borderline Hb A2 levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A2 in northern Thailand and studied the effects of coinherited alpha0 -thalassemia on Hb A2 levels. METHODS: Blood samples with Hb A2 3.1-10.0% from 2193 samples submitted for prenatal thalassemia screening were selected. Information on HBB genotypes and coinherited alpha0 -thalassemia were collected...
October 4, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30293687/retrospective-study-of-the-incidence-of-portal-vein-thrombosis-after-splenectomy-in-hematological-disorders-risk-factors-and-clinical-presentation
#6
Ali Sabbagh, Bijan Keikhaei, Morteza Joorabian, Masumeh Maleki Behzad, Mohammad Momeni
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. METHODS: One hundred twelve splenectomized patients with various hematologic diseases between 2008 and 2018 were enrolled in this study. Diagnosis was confirmed by Doppler ultrasonography (DUSG) and risk factors for PVT were sought based on the comparison of clinical and laboratory features between patients without and with PVT...
September 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30249384/evaluation-of-the-activity-levels-of-rat-fviii-and-human-fviii-delivered-by-adeno-associated-viral-vectors-both-in-vitro-and-in-vivo
#7
Wei Zhang, Jianhua Mao, Yan Shen, Guowei Zhang, Yanyan Shao, Zheng Ruan, Yun Wang, Wenman Wu, Xuefeng Wang, Jiang Zhu, Saijuan Chen, Weidong Xiao, Xiaodong Xi
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. In both in vitro and hydrodynamic injection studies, the activity of rFVIII detected by the activated partial thromboplastin time assay was higher than that of hFVIII both by single-chain (~2...
September 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30249383/modest-contribution-of-jak2-v617f-allele-burden-to-the-occurrence-of-major-thrombosis-in-polycthemia-vera-and-essential-thrombocythemia
#8
LETTER
Adrian P Trifa, Claudia Bănescu, Cristian M Voina, Ștefana Popa, Tünde Török-Vistai, Anca S Bojan, Delia Dima, Mihnea Zdrenghea, Bogdan Fetica, Simona Vișan, Ciprian Tomuleasa, Andrada Pârvu, Laura Urian, Bogdan Pop, Viola M Popov, Mihaela Andreescu, Radu A Popp
No abstract text is available yet for this article.
September 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30224298/circba9-3-supports-the-survival-of-leukaemic-cells-by-up-regulating-c-abl1-or-bcr-abl1-protein-levels
#9
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/30217760/efficacy-of-the-nordic-and-the-mskcc-chemotherapy-protocols-on-the-overall-and-progression-free-survival-in-intracranial-pcnsl
#10
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
#11
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
#12
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
#13
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...
November 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30195626/ultrastructural-changes-in-peripheral-blood-leukocytes-in-%C3%AE-synuclein-knockout-mice
#14
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...
November 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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