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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28811072/evolution-of-hemoglobin-loci-and-their-regulatory-elements
#1
REVIEW
Sjaak Philipsen, Ross C Hardison
Across the expanse of vertebrate evolution, each species produces multiple forms of hemoglobin in erythroid cells at appropriate times and in the proper amounts. The multiple hemoglobins are encoded in two globin gene clusters in almost all species. One globin gene cluster, linked to the gene NPRL3, is preserved in all vertebrates, including a gene cluster encoding the highly divergent globins from jawless vertebrates. This preservation of synteny may reflect the presence of a powerful enhancer of globin gene expression in the NPRL3 gene...
August 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28807656/opportunities-for-model-based-precision-dosing-in-the-treatment-of-sickle-cell-anemia
#2
Min Dong, Tomoyuki Mizuno, Alexander A Vinks
Hydroxyurea is the primary pharmacotherapy to prevent complications of sickle cell anemia (SCA). Accumulated clinical experience across multiple age ranges has suggested that the use of an individualized maximum tolerated dose (MTD) will achieve optimal benefit of hydroxyurea treatment. However, the current empirical and trial-and-error approach for dose escalation often results in a lengthy titration process and is not strictly implemented in many clinics. Opportunities exist for pharmacokinetics model-based precision dosing of hydroxyurea to quickly achieve individual MTD...
August 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28818577/applications-of-cardiac-magnetic-resonance-imaging-in-sickle-cell-disease
#3
Omar Niss, Michael D Taylor
Cardiac magnetic resonance imaging (CMR) has evolved from an effective research tool to a non-invasive clinical modality with versatile applications. The accuracy of volume measurements and functional assessment and the ability to identify unique myocardial tissue characteristics non-invasively are the primary advantages of CMR. The use of CMR in sickle cell disease (SCD) has been limited clinically to myocardial iron assessment. The use of other CMR applications to characterize the cardiac pathology in SCD is slowly emerging but remains limited to research level...
August 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28810169/association-of-genetic-polymorphisms-with-plasma-tfpi-level-boon-or-curse-for-dvt-patients-study-from-india
#4
Kishor Kamal, Sharma Amit, Singh Kanwaljeet, Ranjan Ravi, Pandey Hareram, Kumar Ravi, Kamal Vineet Kumar, Mishra Pravas, Saxena Renu
Low plasma TFPI levels have been associated with an increased risk of DVT; however its association with TFPI gene polymorphisms is controversial and not yet studied in India. The aim of our study was to analyze prevalence of TFPI gene polymorphisms, evaluate their effects on its plasma levels and determine its association with DVT. Plasma level and genetic polymorphisms (33T>C, 399C>T and 536C>T) of TFPI were screened in subjects (100 DVT patients and 100 controls). Mean TFPI level in patients was significantly lower than controls (Patients: 33...
August 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28806577/prevalence-and-predictors-of-cardiac-and-liver-iron-overload-in-patients-with-thalassemia-a-multicenter-study-based-on-real-world-data
#5
Rungroj Krittayaphong, Vip Viprakasit, Pairash Saiviroonporn, Noppadol Siritanaratkul, Suvipaporn Siripornpitak, Arunotai Meekaewkunchorn, Thawatchai Kirawittaya, Pornpun Sripornsawan, Arunee Jetsrisuparb, Jiraporn Srinakarin, Peerapon Wong, Nuttaporntira Phalakornkul, Phakatip Sinlapamongkolkul, John Wood
Prevalence of cardiac and liver iron overload in patients with thalassemia in real-world practice may vary among different regions especially in the era of widely-used iron chelation therapy. The aim of this study was to determine the prevalence of cardiac and liver iron overload in and the management patterns of patients with thalassemia in real-world practice in Thailand. We established a multicenter registry for patients with thalassemia who underwent magnetic resonance imaging (MRI) as part of their clinical evaluation...
August 5, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#6
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28772256/non-syndromic-childhood-onset-congenital-sideroblastic-anemia-a-report-of-13-patients-identified-with-an-alas2-or-slc25a38-mutation
#7
Marie-Amelyne Le Rouzic, Cyrielle Fouquet, Thierry Leblanc, Mohamed Touati, Fanny Fouyssac, Christiane Vermylen, Nadja Jäkel, Jean-François Guichard, Karim Maloum, Fabienne Toutain, Patrick Lutz, Yves Perel, Hana Manceau, Caroline Kannengiesser, Jean-Pierre Vannier
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia during the follow-up of six patients with an ALAS2 mutation and seven patients with an SLC25A38 mutation...
July 26, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28756180/does-novel-p5-n-1-mutation-in-combination-with-g6pd-asahi-in-an-indian-male-contribute-to-budd-chiari-syndrome
#8
LETTER
Prashant Warang, Rati Devendra, Ashish Chiddarwar, Vinod Gupta, Darshana Mirgal, Anshul Jadli, Aniket Mohite, Prabhakar Kedar, Malay Mukherjee
No abstract text is available yet for this article.
July 20, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28711709/isolated-erythrocytosis-associated-with-a-calr-mutation
#9
LETTER
Stephen E Langabeer, Karl Haslam, Catherine M Flynn
No abstract text is available yet for this article.
July 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28689155/combination-of-hemostatic-therapies-for-treatment-of-patients-with-hemophilia-a-and-inhibitors
#10
Tami Livnat, Ivan Budnik, Sarina Levy-Mendelovich, Einat Avishai, Mudi Misgav, Assaf Arie Barg, Aharon Lubetsky, Tami Brutman-Barazani, Gili Kenet
BACKGROUND: Therapy application and monitoring of patients with hemophilia A (HA) and inhibitors are challenging. In the current study, combined FVIII - bypass therapy was implemented for a cohort of severe HA patients with inhibitors. METHODS: Plasma of 15 HA patients with inhibitors was spiked ex vivo with FVIII, rFVIIa, FEIBA and their combinations and thrombin generation (TG) was studied. Some patients who experienced hemarthroses or required minor surgeries were treated by a combined concomitant administration of FVIII+FEIBA as IV bolus doses...
June 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28689691/variability-of-homozygous-sickle-cell-disease-the-role-of-alpha-and-beta-globin-chain-variation-and-other-factors
#11
Graham R Serjeant, Elliott Vichinsky
The single base molecular substitution characterizing sickle cell haemoglobin, β(6)glu→val, might be expected to result in predictable haematological and clinical features. However, the disease manifests remarkable diversity believed to reflect the interaction with other genetic and environmental factors. Some of the genetic modifiers include the beta globin haplotypes, alpha thalassaemia, factors influencing the persistence of fetal haemoglobin and the effects of the environment are addressed in this review...
June 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28651846/molecular-basis-of-%C3%AE-thalassemia-and-potential-therapeutic-targets
#12
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/28693786/skeletal-involvement-in-type-1-gaucher-disease-not-just-bone-mineral-density
#13
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...
June 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28624257/moderate-exercise-training-decreases-inflammation-in-transgenic-sickle-cell-mice
#14
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
#15
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
#16
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/28579187/functional-mri-bold-response-in-sickle-mice-with-hyperalgesia
#17
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
#18
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
#19
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
#20
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
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