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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28411485/cerebral-and-muscle-microvascular-oxygenation-in-children-with-sickle-cell-disease-influence-of-hematology-hemorheology-and-vasomotion
#1
Keyne Charlot, Sophie Antoine-Jonville, Berenike Moeckesch, Stéphane Jumet, Marc Romana, Xavier Waltz, Lydia Divialle-Doumdo, Marie-Dominique Hardy-Dessources, Marie Petras, Benoît Tressières, Vanessa Tarer, Olivier Hue, Maryse Etienne-Julan, Philippe Connes
The present study investigated cerebral and muscle hemoglobin oxygen saturation (tissue oxygen index, TOI) in children with sickle cell anemia (SS), sickle cell hemoglobin C disease (SC) and healthy children (AA). TOI was measured by near-infrared spectroscopy (NIRS) and spectral analysis of the TOI variability was used to assess flowmotion and vasomotion. Arterial oxyhemoglobin saturation (SpO2), hemorheological and hematological parameters were also measured in SS and SC children. Both TOI were lower in SS compared to both AA and SC children, with SC exhibiting lower values than AA children...
April 4, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28388467/rhd-and-rhce-genotyping-by-next-generation-sequencing-is-an-effective-strategy-to-identify-molecular-variants-within-sickle-cell-disease-patients
#2
Marcia R Dezan, Ingrid Helena Ribeiro, Valéria B Oliveira, Juliana B Vieira, Francisco C Gomes, Lucas A M Franco, Leonardo Varuzza, Roberto Ribeiro, Karen Ziza Chinoca, José Eduardo Levi, José Eduardo Krieger, Alexandre Costa Pereira, Sandra F M Gualandro, Vanderson G Rocha, Alfredo Mendrone-Junior, Ester Cerdeira Sabino, Carla Luana Dinardo
BACKGROUND: The complexity of Rh genetic variation among sickle cell disease (SCD) patients is high. Conventional molecular assays cannot identify all genetic variants already described for the RH locus as well as foresee novel alleles. Sequencing RHD and RHCE is indicated to broaden the search for Rh genetic variants. AIMS: To standardize the Next Generation Sequencing (NGS) strategy to assertively identify Rh genetic variants among SCD patients with serologic suspicion of Rh variants and evaluate if it can improve the transfusion support...
March 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28437723/clinical-course-and-disease-burden-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-by-hemolytic-status
#3
Mustafa N Yenerel, Petra Muus, Amanda Wilson, Jeff Szer
Disease characteristics of patients enrolled in the International PNH Registry were assessed during two follow-up periods based on hemolytic status while untreated with eculizumab: Non-hemolytic cohort: follow-up time defined as time from disease start until last reported untreated lactate dehydrogenase (LDH) value <1.5×upper limit normal (ULN); Hemolytic cohort: follow-up time defined as time from LDH ≥1.5×ULN at or post-disease start, to most recent untreated follow-up. A total of 1012 patients met criteria for the Non-hemolytic cohort and 1565 patients for the Hemolytic cohort; median (min, max) years of follow-up were 2...
March 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28365523/thrombin-generation-as-a-predictor-of-thromboembolic-events-in-multiple-myeloma-patients
#4
Merav Leiba, Sarah Malkiel, Ivan Budnik, Gabriela Rozic, Abraham Avigdor, Adrian Duek, Arnon Nagler, Gili Kenet, Tami Livnat
BACKGROUND: Multiple myeloma (MM) is characterized by an increased incidence of thromboembolic events, especially when immunomodulatory drugs are used. Currently, our ability to predict these thrombotic events is limited. We hypothesized that global coagulation tests may be predictive of thrombotic events in MM patients. METHODS: Blood samples were taken from 36 MM patients before and during routine treatment. Thrombin generation (TG) tests including endogenous thrombin potential (ETP) and peak height were analyzed...
March 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28391042/a-novel-germ-line-mutation-of-c-mpl-gene-in-a-sporadic-case-of-essential-thrombocythemia
#5
LETTER
Anna Maria Lombardi, Silvia Ferrari, Isabella Barzon, Filippo Navaglia, Fabrizio Fabris, Fabrizio Vianello
No abstract text is available yet for this article.
March 24, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28380398/a-retrospective-study-of-paroxysmal-nocturnal-hemoglobinuria-in-pediatric-and-adolescent-patients
#6
Angela Mercuri, Piero Farruggia, Fabio Timeus, Laura Lombardi, Daniela Onofrillo, Maria Caterina Putti, Marta Pillon, Maria Elena Cantarini, Paola Corti, Gloria Tridello, Massimiliano De Bortoli, Anna Pegoraro, Simone Cesaro
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its treatment were compared in patients with classic PNH versus PNH associated with bone marrow disorder (PNH/BMD). A greater delay in diagnosis was observed in classic PNH compared to PNH/BMD patients...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28364583/creatine-kinase-in-human-erythrocytes-a-genetic-anomaly-reveals-presence-of-soluble-brain-type-isoform
#7
Laurence Kay, Malgorzata Tokarska-Schlattner, Bénédicte Quenot-Carrias, Betty Goudet, Peter Bugert, Heidwolf Arnold, Günter Scheuerbrandt, Uwe Schlattner
For maintaining energy homeostasis, creatine kinase (CK) is present at elevated levels in tissues with high and/or fluctuating energy requirements such as muscle, brain, and epithelia, while there is very few CK, if any, in peripheral blood cells. However, an ectopic expression of brain-type creatine kinase (BCK) has been reported for platelets and leukocytes in an autosomal dominant inherited anomaly named CKBE. Here we investigated CK in erythrocytes of CKBE individuals from eight unrelated families. The data revealed a varying but significant increase of CK activity in CKBE individuals as compared to controls, reaching an almost 800-fold increase in two CKBE individuals which also had increased erythrocyte creatine...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28363466/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...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28342932/changes-in-hba2-and-hbf-in-alpha-thalassemia-carriers-with-klf1-mutation
#9
Stefania Satta, Maria Elisabetta Paglietti, Maria Carla Sollaino, Susanna Barella, Paolo Moi, Maria Franca Desogus, Franca Rosa Demartis, Laura Manunza, Raffaella Origa
α-thalassemia carriers are common in Mediterranean regions, particularly in the Sardinian population. Their haematological phenotype is characterized by reduced MCV and/or MCH with normal or slightly reduced HbA2 levels and normal HbF. Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for haematopoiesis. Mutations in the KLF1 gene trigger a series of benign human red blood phenotypes, such as an increase in HbA2 and HBF. Recently, it has been found that KLF1 mutations were a frequent cause of borderline HbA2 levels in a group of Sardinian subjects...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#10
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28301811/drug-induced-endovesiculation-of-erythrocytes-is-modulated-by-the-dynamics-in-the-cytoskeleton-membrane-interaction
#11
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/28376382/whole-exome-sequencing-in-the-differential-diagnosis-of-diamond-blackfan-anemia-clinical-and-molecular-study-of-three-patients-with-novel-rpl5-and-mosaic-rps19-mutations
#12
Edoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca, Orsetta Zuffardi
Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28284561/novel-mutation-in-two-brothers-with-hermansky-pudlak-syndrome-type-3
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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