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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28301811/drug-induced-endovesiculation-of-erythrocytes-is-modulated-by-the-dynamics-in-the-cytoskeleton-membrane-interaction
#1
Walter Oberwagner, Thomas Sauer, Andreas Hermann, Rainer Prohaska, Ernst W Müllner, Ulrich Salzer
Recent studies on erythrocyte membrane fluctuations revealed that the erythrocyte cytoskeleton actively modulates its membrane association thereby regulating crucial membrane properties. Cationic amphiphilic drugs like chlorpromazine are known to induce a cup-like cell shape and vesicle formation into the cell interior, effectors of this process, however, are largely unknown. Using flow cytometry, this study explored conditions that influence endovesiculation induced by chlorpromazine. We found that inhibitors of membrane fluctuations, like ATP depletion, vanadate or fluoride, also inhibited endovesiculation whereas activation of PKC, known to decrease cytoskeleton association and increase membrane fluctuations, also enhanced endovesicle formation...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28284561/novel-mutation-in-two-brothers-with-hermansky-pudlak-syndrome-type-3
#2
Kirstin Sandrock-Lang, Ingrid Bartsch, Nina Buechele, Udo Koehler, Carl Philipp Simon-Gabriel, Matthias Eckenweiler, Barbara Zieger
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10). We report on two Turkish brothers showing typical HPS phenotype comprising oculocutaneous albinism and bleeding symptoms. Pathological bleeding time as well as platelet aggregometry analyses revealed impaired platelet function...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28301810/letter-to-the-editor-on-pastores-et-al-development-of-anti-velaglucerase-alfa-antibodies-in-clinical-trial-treated-patients-with-gaucher-disease
#3
LETTER
Joan Keutzer, Daniel Gruskin
No abstract text is available yet for this article.
March 1, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28292728/enhancer-deletion-generates-cellular-phenotypic-diversity-due-to-bimodal-gene-expression
#4
LETTER
Marco De Gobbi, Ailbhe J Brazel, Jacqueline A Sharpe, Jacqueline A Sloane-Stanley, Andrew J Smith, William G Wood, Douglas Vernimmen
No abstract text is available yet for this article.
March 1, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28285097/increased-peripheral-leukemia-blasts-leading-to-false-positive-blood-culture
#5
LETTER
Maliha Khan, Rabbia Siddiqi, Marina Konopleva, Micah M Bhatti, Christopher B Benton
No abstract text is available yet for this article.
February 28, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28283251/diagnosis-and-treatment-of-antiphospholipid-syndrome-in-childhood-a-review
#6
Dax G Rumsey, Barry Myones, Patti Massicotte
The antiphospholipid syndrome (APS) is a multisystem autoimmune disease characterized by recurrent fetal loss and thromboembolic events associated with the presence of elevated titres of antiphospholipid antibodies (aPL). The purpose of this review is to summarize what is currently known about the diagnosis and treatment of pediatric APS, to highlight key differences between APS presenting in adults versus children throughout, and to identify areas where future research is needed.
February 28, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28282554/erythropoietin-administration-increases-splenic-erythroferrone-protein-content-and-liver-tmprss6-protein-content-in-rats
#7
Iuliia Gurieva, Jana Frýdlová, Zuzana Rychtarčíková, Martin Vokurka, Jaroslav Truksa, Jan Krijt
Erythroferrone (ERFE) and TMPRSS6 are important proteins in the regulation of iron metabolism. The objective of the study was to examine splenic ERFE and liver TMPRSS6 synthesis in rats treated with a combination of iron and erythropoietin (EPO). EPO was administered to female Wistar rats at 600U/day for four days, iron-pretreated rats received 150mg of iron before EPO treatment. Content of ERFE and TMPRSS6 proteins was determined by commercial antibodies. Iron pretreatment prevented the EPO-induced decrease in hepcidin expression...
February 28, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28302350/primary-prophylaxis-in-haemophilia-care-guideline-update-2016
#8
Kathelijn Fischer, Rolf Ljung
This paper reviews the current status on recommendations or guidelines for primary prophylaxis based on recent published papers from organizations or group of experts as well as some original key papers. A rather uniform view exists that prophylaxis should be initiated at an early age before or after no more than a single joint bleed and, if possible, preferably be continued for life. The dose and dose frequency of prophylaxis is dependent on the goal of treatment, bleeding phenotype, compliance, venous access and economic resources in the health care system and should be tailored individually based on clinical outcome and pharmacokinetics...
February 17, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#9
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28214138/editorial-preface
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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