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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28214138/editorial-preface
#1
Douglas Vernimmen
No abstract text is available yet for this article.
February 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#2
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28190666/design-of-a-framework-for-the-deployment-of-collaborative-independent-rare-disease-centric-registries-gaucher-disease-registry-model
#3
Matthew I Bellgard, Kathryn R Napier, Alan H Bittles, Jeffrey Szer, Sue Fletcher, Nikolajs Zeps, Adam A Hunter, Jack Goldblatt
Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these 'independent' registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases...
January 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28160733/telomerase-enzyme-activity-in-egyptian-children-with-bone-marrow-failure-and-response-to-immunosuppressive-therapy
#4
Amal El Beshlawy, Fadwa Said, Mervat El Ansary, Mona Hamdy, Khalid Abdel-Azim, Abdel-Rahman A Abdel-Razek, Nelly Abulata, Amina Abdel-Salam
No abstract text is available yet for this article.
January 26, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28160732/the-association-between-four-snps-rs7482144-rs4671393-rs28384513-and-rs4895441-and-fetal-hemoglobin-levels-in-chinese-zhuang-%C3%AE-thalassemia-intermedia-patients
#5
Yunli Lai, Lin Zhou, Sheng Yi, Yun Chen, Yanqing Tang, Shang Yi, Ze Yang, Hongwei Wei, Chenguang Zheng, Sheng He
Four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) associated with HbF levels have been identified in different populations worldwide. To explore whether these SNPs modulate HbF expression in Chinese Zhuang population, 436 Chinese Zhuang β-thalassemia intermedia (β-TI) patients were divided into high HbF level group (mean HbF=25.5%, n=218) and low group (mean HbF=6.51%, n=218) for genotyping using PCR-HRM method. Results demonstrated that there was a significantly higher minor allele frequency (MAF=34...
January 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28131619/patients-with-bernard-soulier-syndrome-and-different-severity-of-the-bleeding-phenotype
#6
D Boeckelmann, H Hengartner, A Greinacher, U Nowak-Göttl, U J Sachs, K Peter, K Sandrock-Lang, B Zieger
Bernard-Soulier syndrome is a rare (1:1million), hereditary bleeding disorder caused by defects of the platelet GPIb-IX-V complex. Patients suffer from mucocutaneous bleedings. Typical are thrombocytopenia, giant platelets and impaired agglutination after stimulation with ristocetin. In populations in which consanguineous marriages are common the frequency of the disorder is increased because Bernard-Soulier syndrome is mostly inherited autosomal recessively. Genetic analyses of the disease-related genes may help to gain more insights regarding the phenotype/genotype correlation...
January 22, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28178599/the-targeted-eosinophil-lowering-effects-of-dexpramipexole-in-clinical-studies
#7
Steven I Dworetzky, Gregory T Hebrank, Donald G Archibald, Ian J Reynolds, Wildon Farwell, Michael E Bozik
Dexpramipexole, an orally bioavailable small molecule previously under clinical development in amyotrophic lateral sclerosis, was observed during routine safety hematology monitoring to demonstrate pronounced, dose- and time-dependent eosinophil-lowering effects, with minor reductions on other leukocyte counts. Analysis of hematology lab values across two double-blind, randomized placebo-controlled clinical trials at total daily doses ranging from 50mg to 300mg demonstrated that dexpramipexole consistently and markedly lowered peripheral blood eosinophils...
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28131618/taliglucerase-alfa-in-gaucher-disease-description-of-a-brazilian-experience
#8
R Cravo, V Rotman, P M N Oliveira, H G T Defendi, D A Conceição, J R Xavier, R Chertkoff, T G Noronha, M L S Maia
We evaluated retrospectively, efficacy and safety of taliglucerase alfa for Gaucher disease in a Brazilian population. Thirteen patients were included for efficacy analysis only one of them naïve to enzyme replacement therapy. All the parameters evaluated remained stable throughout treatment (mean duration 3,5years). Only three patients (out of 35) had to discontinue treatment due to a serious adverse event. In conclusion, treatment with taliglucerase alfa was found to be safe and efficient.
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28130047/perioperative-management-of-hemostasis-in-children-and-adolescents
#9
Christoph Bidlingmaier, Martin Olivieri, Sebastian Hütker, Sabrina Dietl, Karin Kurnik
Invasive procedures in children are in most cases elective and are carried out in otherwise healthy children. While many surgeries are still performed in a hospital, more and more procedures are defined as "outpatient procedures," leading to increased discussion about safety and risks. This review will examine common practices, review the sparse literature and provide recommendations regarding the identification of children with increased bleeding risk, planning for children with known bleeding disorders and strategies for perioperative management...
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28111116/patients-with-gaucher-type-1-switching-from-imiglucerase-to-miglustat-therapy
#10
Ebru Canda, Melis Kose, Mehtap Kagnici, Sema Kalkan Ucar, Eser Y Sozmen, Mahmut Coker
No abstract text is available yet for this article.
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28126395/a-pooled-analysis-of-adverse-events-in-393-adults-with-gaucher-disease-type-1-from-four-clinical-trials-of-oral-eliglustat-evaluation-of-frequency-timing-and-duration
#11
M Judith Peterschmitt, Gerald F Cox, Jennifer Ibrahim, James MacDougall, Lisa H Underhill, Palni Patel, Sebastiaan J M Gaemers
Eliglustat, an oral substrate reduction therapy, is a first-line therapy for adults with Gaucher disease type 1 and a compatible CYP2D6 metabolizer phenotype. Clinicians have requested more information about frequency, timing, and duration of adverse events associated with eliglustat. Adverse event data as of January 31, 2013 for all patients who received at least one dose of eliglustat were pooled from four eliglustat clinical trials (393 patients representing 535 patient-years of exposure). The following 10 adverse events noted in the eliglustat US Prescribing Information (USPI) and EU Summary of Product Characteristics (SmPC) were evaluated with regard to frequency, drug-relatedness, severity, seriousness, duration, and timing of onset: headache, arthralgia, diarrhea, nausea, fatigue, flatulence, abdominal pain, upper abdominal pain, back pain, and extremity pain...
January 13, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28118958/roscoe-o-brady-physician-whose-pioneering-discoveries-in-lipid-biochemistry-revolutionized-treatment-and-understanding-of-lysosomal-diseases
#12
Johannes M Aerts, Timothy M Cox
No abstract text is available yet for this article.
January 12, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28110136/impaired-muscle-force-production-and-higher-fatigability-in-a-mouse-model-of-sickle-cell-disease
#13
Benjamin Chatel, Christophe Hourdé, Julien Gondin, Alexandre Fouré, Yann Le Fur, Christophe Vilmen, Monique Bernard, Laurent A Messonnier, David Bendahan
Skeletal muscle function has been scarcely investigated in sickle cell disease (SCD) so that the corresponding impact of sickle hemoglobin is still a matter of debate. The purpose of this study was to investigate muscle force production and fatigability in SCD and to identify whether exercise intensity could have a modulatory effect. Ten homozygous sickle cell (HbSS), ten control (HbAA) and ten heterozygous (HbAS) mice were submitted to two stimulation protocols (moderate and intense) to assess force production and fatigability...
January 11, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28110135/identification-of-hereditary-hemochromatosis-pedigrees-and-a-novel-slc40a1-mutation-in-chinese-population
#14
LETTER
Peng An, Li Jiang, Yu Guan, Hao Wang, Jiaming Wang, Yongmei Tian, Wenjie Yang, Yanbo Shi, Jun Xue, Junxia Min, Fudi Wang
No abstract text is available yet for this article.
January 11, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28110131/marked-discordance-between-cytogenetic-molecular-and-morphologic-findings-in-a-patient-with-chronic-myeloid-leukemia
#15
LETTER
Armin Rashidi, Elizabeth Courville
No abstract text is available yet for this article.
January 10, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28126623/the-jak2v617f-mutation-in-normal-individuals-takes-place-in-differentiating-cells
#16
Svetlana Krichevsky, Eugenia Prus, Riki Perlman, Eitan Fibach, Dina Ben-Yehuda
The JAK2V617F mutation that results in a hyper-activation of the JAK2 kinase in the erythropoietin pathway is a molecular marker for myeloproliferative neoplasms. Using allele-specific Real-Time PCR, we detected the mutation in the blood of 17.3% (17/98) of normal donors; the mutant allele burden was, however, very low (<0.01% compared to >1% in polycythemia vera). It was much higher in differentiated blood cells in the peripheral blood than in undifferentiated CD34(+) cells. Erythropoietin-stimulated differentiation of normal CD34(+) cells in liquid culture increased the mutation frequency by 3...
January 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28087247/activity-of-von-willebrand-factor-and-levels-of-vwf-cleaving-protease-adamts13-in-preterm-and-full-term-neonates
#17
T Strauss, N Elisha, B Ravid, N Rosenberg, A Lubetsky, S Levy-Mendelovich, I Morag, U Nowak Göttl, G Kenet
Von Willebrand Factor (VWF) has a central role in primary hemostasis. Its biological activity is related to the size of VWF multimers, spontaneously binding to platelets and inducing circulating microthrombi formation. This process is down-regulated by the VWF cleaving protease ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin motif). To date, information regarding the levels of ADAMTS13 in neonates and preterm infants is scarce. Our aim was to study ADAMTS13, VWF antigen (Ag) and Ristocetin cofactor (RiCof) activity in neonates and evaluate potential correlations with perinatal complications...
December 29, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28063644/are-transient-and-shear-wave-elastography-useful-tools-in-gaucher-disease
#18
Muriel Webb, Ari Zimran, Tama Dinur, Oren Shibolet, Stella Levit, David M Steinberg, Ophira Salomon
Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for evaluating patients with Gaucher disease. The study included 42 patients with Gaucher disease type I and 33 patients with liver cirrhosis as well as 22 healthy volunteers. Ultrasound and Doppler examination was performed on each participant prior to apply transient and 2D shear wave elastography. In Gaucher disease the median stiffness of the spleen as assessed by transient elastography (TE) and shear wave elastography (SWE) was 35KPa and 22KPa respectively in contrast to the median stiffness of healthy controls (16...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28061377/tnf-%C3%AE-increases-in-the-csf-of-children-with-acute-lymphoblastic-leukemia-before-cns-relapse
#19
José Carlos Jaime-Pérez, Carmen Magdalena Gamboa-Alonso, Raúl Alberto Jiménez-Castillo, Leslie Jazmín López-Silva, Mónica Andrea Pinzón-Uresti, Andrés Gómez-De León, David Gómez-Almaguer
There is scarce information regarding the concentration of cytokines in cerebrospinal fluid (CSF) of children with acute lymphoblastic leukemia (ALL) and their clinical association with CNS status. A prospective analysis of 40 patients <18years with newly diagnosed ALL was performed. Human cytokine magnetic bead panel assay values of IL-2, IL-4, IL-6, IL-8, IL-10, MCP-1, TNF-α in CSF at diagnosis, end of induction to remission, and 6months after diagnosis were determined. IL-6 and MCP-1 values showed a significant increment at the end of induction...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28024237/concurrent-%C3%AE-thalassaemia-trait-and-southeast-asian-ovalocytosis-associated-with-clinically-significant-iron-loading
#20
LETTER
Yunxin Chen, Hai Yang Law, Guek Peng Tan, Ai Leen Ang
No abstract text is available yet for this article.
December 20, 2016: Blood Cells, Molecules & Diseases
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