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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28651846/molecular-basis-of-%C3%AE-thalassemia-and-potential-therapeutic-targets
#1
REVIEW
Swee Lay Thein
The remarkable phenotypic diversity of β thalassemia that range from severe anemia and transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of disease severity can be generated in single gene disorders. While the genetic basis for β thalassemia, and how severity of the anemia could be modified at different levels of its pathophysiology have been well documented, therapy remains largely supportive with bone marrow transplant being the only cure. Identification of the genetic variants modifying fetal hemoglobin (HbF) production in combination with α globin genotype provide some prediction of disease severity for β thalassemia but generation of a personalized genetic risk score to inform prognosis and guide management requires a larger panel of genetic modifiers yet to be discovered...
June 20, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28624257/moderate-exercise-training-decreases-inflammation-in-transgenic-sickle-cell-mice
#2
Emmanuelle Charrin, John J Dubé, Philippe Connes, Vincent Pialoux, Samit Ghosh, Camille Faes, Solomon F Ofori-Acquah, Cyril Martin
Chronic systemic inflammation is a pathophysiological feature of sickle cell disease (SCD). Considering that regular exercise exerts multiple beneficial health effects including anti-inflammatory actions, we investigated whether a treadmill training program could minimize the inflammatory state in transgenic sickle cell (SS) mice. To test this hypothesis, SS mice were subjected to a treadmill training protocol of 1h/day, 5days a week for 8weeks. Exercise training increased the percent of venous oxyhemoglobin and sharply decreased the percent of carboxyhemoglobin suggesting that exercise training may limit the proportion of erythrocytes that were deoxygenated in the venous circulation...
June 13, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28624256/extensive-ulcerated-lesions-in-a-patient-with-cutaneous-myeloid-sarcoma-responded-to-twice-daily-fludarabine-and-cytarabine-regimen
#3
LETTER
Maliha Khan, Rabbia Siddiqi, Jonathan L Curry, Kiran Naqvi
No abstract text is available yet for this article.
May 24, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28559130/cholangiocarcinoma-occurring-in-a-patient-with-type-1-gaucher-disease-treated-with-velaglucerase-alfa-enzyme-replacement-therapy-first-case-report
#4
Jan Holubar, Virginie Bres, Valérie Costes-Martineau, Yves-Marie Pers
No abstract text is available yet for this article.
May 24, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28554826/oxidative-pathways-in-the-sickle-cell-and-beyond
#5
REVIEW
Abdu I Alayash
Polymerization of deoxy sickle cell hemoglobin (HbS) is well recognized as the primary event that triggers the classic cycles of sickling/unsickling of patients red blood cells (RBCs). RBCs are also subjected to continuous endogenous and exogenous oxidative onslaughts resulting in hemolytic rate increases which contribute to the evolution of vasculopathies associated with this disease. Compared to steady-state conditions, the occurrences of vaso-occlusive crises increase the levels of both RBC-derived microparticles as well as extracellular Hb in circulation...
May 20, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552474/anticoagulation-therapy-in-neonates-children-and-adolescents
#6
Michele Hepponstall, Anthony Chan, Paul Monagle
Anticoagulation of neonates, children and adolescents remains an important part of clinical care for many individuals. There are different options for anticoagulation, each with their own advantages and disadvantages and selection of an appropriate anticoagulation regime for the specific condition should be judicious. This is in part because age related differences in the coagulation systems exist that mean that the pharmacokinetics and pharmacodynamics of anticoagulation drugs vary across the pediatric spectrum in addition to being distinct from adults...
May 13, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552476/anticoagulation-in-children-making-the-most-of-little-patients-and-little-evidence
#7
Guy Young, Christoph Male, C Heleen van Ommen
Thrombotic complications are increasing at a steady and significant rate in children resulting in the more widespread use of anticoagulation in this population. Anticoagulant drugs in children can be divided into the standard agents (heparin, low molecular weight heparin, and vitamin K antagonists) and alternative agents (argatroban, bivalirudin, and fondaparinux). This review will compare and contrast the standard and alternative anticoagulants and suggest situations in which it may be appropriate to use argatroban, bivalirudin, and fondaparinux...
May 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28648630/resolution-of-a-steroid-resistant-hypereosinophilic-immune-diathesis-with-mepolizumab-and-concomitant-amelioration-of-a-mixed-thrombotic-microangiopathy
#8
J Justin Mulvey, Cynthia Magro, Amy Chadburn
The anaphylatoxins produced by an unbridled complement cascade in atypical hemolytic uremic syndrome (aHUS) can alter the leukocyte environment in tissues and peripheral blood, causing clinically significant eosinophilia. While the membrane attack complex and C5a anaphlatoxin can be suppressed with anti-C5 biologics, the production of C3a is still capable of driving a destructive hypereosinophilic syndrome in spite of anticomplement therapy. The side-effects of glucocorticoids in treating hypereosinophilic syndrome limit their therapeutic index in long-term treatment and this behooves the use of alternative strategies...
May 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28457694/a-rare-form-of-gaucher-disease-resulting-from-saposin-c-deficiency
#9
Lulu Kang, Xia Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
Gaucher disease is mainly caused by the deficiency of lysosomal acid β-glucosidase. Gaucher disease caused by the deficiency of saposin C is rare. Here we report a patient mainly presenting with hepatosplenomegaly, thrombocytopenia and anemia. EEG examination revealed increased theta waves. Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease. However, the leukocyte β-glucosidase activity was in a normal range...
April 3, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28579187/functional-mri-bold-response-in-sickle-mice-with-hyperalgesia
#10
Ying Wang, Xiao Wang, Wei Chen, Kalpna Gupta, Xiao-Hong Zhu
Patients with sickle cell anemia (SCA) have abnormal hemoglobin (sickle hemoglobin S) leading to the crystallization of hemoglobin chains in red blood cells (RBCs), which assume sickle shape and display reduced flexibility. Sickle RBCs (sRBCs) adhere to vessel walls and block blood flow, thus preventing oxygen delivery to the tissues leading to vaso-occlusive crises (VOC), acute pain and organ damage. SCA patients often have chronic pain that can be attributed to inflammation, vasculopathy, neuropathy, ischemia-reperfusion injury and organ damage...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28576608/response-to-request-by-journal-editorship-from-blood-cells-molecules-and-diseases-in-reference-to-a-dear-editor-letter-to-the-pastores-et-al-paper-2016
#11
LETTER
Gregory M Pastores, Hadhami Ben Turkia, Derlis E Gonzalez, Hiroyuki Ida, Azaza A G Tantawy, Yulin Qin, Yongchang Qiu, Quinn Dinh, Ari Zimran
No abstract text is available yet for this article.
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28571780/the-first-report-of-chronic-myelogenous-leukemia-with-e19a2-micro-bcr-abl1-presenting-with-massive-myelofibrosis
#12
LETTER
Hyun-Young Kim, Silvia Park, Sun-Hee Kim, Hee-Jin Kim
No abstract text is available yet for this article.
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28571779/clinical-and-molecular-characterization-of-6-children-with-glutamate-cysteine-ligase-deficiency-causing-hemolytic-anemia
#13
Fatima Almusafri, Hiba E Elamin, Tamam E Khalaf, Alaa Ali, Tawfeg Ben-Omran, Ayman W El-Hattab
Glutathione (gamma-glutamylcysteinylglycine) has diverse functions including free radicals scavenging and modulating many critical cellular processes. Glutathione is synthesized by the consecutive action of the enzymes glutamate-cysteine ligase (GCL) and glutathione synthetase. GCL is composed of a catalytic subunit encoded by the GCLC gene and a regulatory subunit encoded by the GCLM gene. GCL deficiency due to homozygous mutations in GCLC has been reported in 6 individuals from 4 independent families. All presented with hemolytic anemia and 4 had additional neurological manifestations including cognitive impairment, neuropathy, ataxia, and myopathy...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552477/genome-wide-association-study-of-erythrocyte-density-in-sickle-cell-disease-patients
#14
Yann Ilboudo, Pablo Bartolucci, Alicia Rivera, Josepha-Clara Sedzro, Mélissa Beaudoin, Marie Trudel, Seth L Alper, Carlo Brugnara, Frédéric Galactéros, Guillaume Lettre
Deoxy-hemoglobin S polymerization into rigid fibers is the direct cause of the clinical sequelae observed in sickle cell disease (SCD). The rate of polymerization of sickle hemoglobin is determined primarily by intracellular hemoglobin concentration, itself dependent on the amount of sickle hemoglobin and on red blood cell (RBC) volume. Dense, dehydrated RBC (DRBC) are observed in SCD patients, and their number correlates with hemolytic parameters and complications such as renal dysfunction, leg ulcers and priapism...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552475/the-mutant-calr-allele-burden-in-essential-thrombocythemia-at-transformation-to-acute-myeloid-leukemia
#15
LETTER
Stephen E Langabeer, Karl Haslam, Ezzat Elhassadi
No abstract text is available yet for this article.
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552473/dysfunctional-fibrinolysis-and-cerebral-venous-thrombosis
#16
Aniket Prabhudesai, Shrimati Shetty, Kanjaksha Ghosh, Bipin Kulkarni
Cerebral venous thrombosis (CVT) is an uncommon neurological disease with high morbidity and mortality. Even after extensive thrombophilia screening, majority of the thrombosis cases remain with unknown etiology. Hypofibrinolysis due to acquired or congenital deficiencies or abnormalities in factors in the fibrinolytic cascade is a known cause of thrombosis at any site. In the present study 104 cases of radiologically confirmed CVT cases were investigated for the conventional thrombophilia along with factors in the fibrinolytic cascade to find a possible etiology for the clinical manifestation...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28552472/exacerbated-in-vivo-metabolic-changes-suggestive-of-a-spontaneous-muscular-vaso-occlusive-crisis-in-exercising-muscle-of-a-sickle-cell-mouse
#17
Benjamin Chatel, Laurent A Messonnier, David Bendahan
While sickle cell disease (SCD) is characterized by frequent vaso-occlusive crisis (VOC), no direct observation of such an event in skeletal muscle has been performed in vivo. The present study reported exacerbated in vivo metabolic changes suggestive of a spontaneous muscular VOC in exercising muscle of a sickle cell mouse. Using magnetic resonance spectroscopy of phosphorus 31, phosphocreatine and inorganic phosphate concentrations and intramuscular pH were measured throughout two standardized protocols of rest - exercise - recovery at two different intensities in ten SCD mice...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28499471/cytoskeletal-connectivity-may-guide-erythrocyte-membrane-ex-and-invagination-a-discussion-point-how-biophysical-principles-might-be-exploited-by-a-parasite-invading-erythrocytes
#18
LETTER
Nir Gov, Ernst W Müllner, Ulrich Salzer
No abstract text is available yet for this article.
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28472705/measurements-of-red-cell-deformability-and-hydration-reflect-hbf-and-hba2-in-blood-from-patients-with-sickle-cell-anemia
#19
Nermi L Parrow, Hongbin Tu, James Nichols, Pierre-Christian Violet, Corinne A Pittman, Courtney Fitzhugh, Robert E Fleming, Narla Mohandas, John F Tisdale, Mark Levine
Decreased erythrocyte deformability, as measured by ektacytometry, may be associated with disease severity in sickle cell anemia (SCA). Heterogeneous populations of rigid and deformable cells in SCA blood result in distortions of diffraction pattern measurements that correlate with the concentration of hemoglobin S (HbS) and the percentage of irreversibly sickled cells. We hypothesize that red cell heterogeneity, as well as deformability, will also be influenced by the concentration of alternative hemoglobins such as fetal hemoglobin (HbF) and the adult variant, HbA2...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28460265/two-novel-mutations-in-tmprss6-associated-with-iron-refractory-iron-deficiency-anemia-in-a-mother-and-child
#20
Hassan M Yaish, Colin P Farrell, Robert D Christensen, Brianna C MacQueen, Laurie K Jackson, Jesus Trochez-Enciso, Jerry Kaplan, Diane M Ward, Walid K Salah, John D Phillips
In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia.
June 2017: Blood Cells, Molecules & Diseases
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