Transfusion Medicine and Hemotherapy最新文献

{"title":"Front & Back Matter","authors":"Gregor Bein","doi":"10.1159/000522356","DOIUrl":"https://doi.org/10.1159/000522356","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47723060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PharmaNews","authors":"","doi":"10.1159/000522076","DOIUrl":"https://doi.org/10.1159/000522076","url":null,"abstract":"Die aktualisierte Fachinformation für den oralen Januskinase (JAK)-Inhibitor Ruxolitinib (Jakavi®) enthält detailliertere Dosierungsempfehlungen zur Behandlung von krankheitsbedingter Splenomegalie oder Symptomen bei Erwachsenen mit primärer Myelofibrose, Post-Polycythaemia-vera-Myelofibrose oder Post-essenzieller-Thrombozythämie-Myelofibrose. Diese beinhalten detailliertere Angaben zur Anfangsdosis des oralen JAK-Inhibitors in Abhängigkeit von der Thrombozytenzahl sowie zur Dosisanpassung bei Thrombozytopenie unter laufender Behandlung. Thrombozytopenien (Thrombozytenzahl < 150 000/μl im Blut) können bei der Myelofibrose als Folge der erkrankungsbedingten Splenomegalie, aber auch als Nebenwirkung der Therapie auftreten [1, 2]. Die Aktualisierung der Fachinformation basiert auf den Ergebnissen der PhaseIb-Studie EXPAND, die die Dosierung von Ruxolitinib bei Thrombozytenzahlen von 50 000–100 000 untersuchte [3, 4]. Die nun empfohlene Anfangsdosis von Ruxolitinib liegt zwischen 5 und 20 mg 2-mal täglich (bid) und richtet sich nach der Thrombozytenzahl bei Behandlungsbeginn [1].* Tritt später im Behandlungsverlauf eine Thrombozytopenie auf, soll die Dosis in Abhängigkeit von der Thrombozytenzahl und der Dosis zum Zeitpunkt des Thrombozytenabfalls differenziert angepasst werden [1]. Bei Thrombozytenzahlen < 50 × 109/l muss die Therapie pausiert werden – unabhängig von der Ausgangsdosis [1].","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"65 - 66"},"PeriodicalIF":2.2,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45177553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease","authors":"K. Peikert, A. Hermann, A. Danek","doi":"10.1159/000521417","DOIUrl":"https://doi.org/10.1159/000521417","url":null,"abstract":"Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the XK gene. The rare blood group phenotype of MLS patients with absent Kx antigen requires the support of specialized transfusion institutions because of the risk of transfusion complications. Acanthocytosis of red blood cells occurs in almost all patients. Nonhematological manifestations of MLS are very similar to those of VPS13A disease (chorea-acanthocytosis), an autosomal-recessive condition. Their shared phenotype apart from acanthocytosis includes movement disorders such as chorea and dystonia, epilepsy, peripheral neuropathy, and muscle involvement, typically with creatine kinase (CK) elevation, cardiomyopathy included. Summary: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A disease. While there are many similarities, differences such as mode of inheritance, sex distribution, age at manifestation, severity of heart involvement, frequency of feeding dystonia or of involuntary head drops may help to distinguish these disorders in the clinic. Immunohematological demonstration of the McLeod-Kell phenotype or detection of pathogenic mutations of XK (or VPS13A, respectively) is the gold standard for distinction. “Neuroacanthocytosis” was often used as an overarching term, but is potentially misleading, as the term does not refer to a defined disease entity. Its use, if continued, must not prevent clinicians to seek a final diagnosis on the basis of molecular findings. The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. Evidence for molecular interaction between XK, the McLeod protein, and chorein, the VPS13A gene product, has recently been put forward: XK forms a complex with chorein/VPS13A, a bulk lipid transporter located at various membrane contact sites. The exact role of XK in this complex needs to be further elucidated. Impairment of bulk lipid transport appears as the common denominator of both MLS and VPS13A disease. A variety of further conditions may in time be added to the “bulk lipid transport diseases,” such as the recently recognized disorders caused by mutations in the VPS13B, VPS13C, and VPS13D genes. Key Messages: (1) Patients diagnosed with the rare red cell McLeod phenotype (McLeod syndrome, MLS) require interdisciplinary collaboration of transfusion medicine specialists, neurologists, and cardiologists for both their hematological and nonhematological disease manifestations. (2) The phenotypical similarity of MLS and VPS13A disease, often leading to either confusion or insufficient diagnostic depth (under the label of “neuroacanthocytosis”), is based on interaction of the respective proteins, XK and chorein, within the cellular machinery for bulk lipid transport. (3) Overall, the term “bulk lipid transport diseases” seems useful for further research on a group of conditions that may not only share pa","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"4 - 12"},"PeriodicalIF":2.2,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44805942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Blood Group Antigen CD59 with Disease","authors":"C. Weinstock","doi":"10.1159/000521174","DOIUrl":"https://doi.org/10.1159/000521174","url":null,"abstract":"In 2014, the membrane-bound protein CD59 became a blood group antigen. CD59 has been known for decades as an inhibitor of the complement system, located on erythrocytes and on many other cell types. In paroxysmal nocturnal haemoglobinuria (PNH), a stem cell clone with acquired deficiency to express GPI-anchored molecules, including the complement inhibitor CD59, causes severe and life-threatening disease. The lack of CD59, which is the only membrane-bound inhibitor of the membrane attack complex, contributes a major part of the intravascular haemolysis observed in PNH patients. This crucial effect of CD59 in PNH disease prompted studies to investigate its role in other diseases. In this review, the role of CD59 in inflammation, rheumatic disease, and age-related macular degeneration is investigated. Further, the pivotal role of CD59 in PNH and congenital CD59 deficiency is reviewed.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"13 - 24"},"PeriodicalIF":2.2,"publicationDate":"2022-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45080214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Augustine Blood Group System and Equilibrative Nucleoside Transporter 1","authors":"G. Daniels","doi":"10.1159/000520596","DOIUrl":"https://doi.org/10.1159/000520596","url":null,"abstract":"Augustine (AUG) is a blood group system comprising four antigens: AUG1, AUG2 (Ata), and AUG4 are of very high frequency; AUG3 is of very low frequency. These antigens are located on ENT1, an equilibrative nucleoside transporter encoded by SLC19A1. AUG antibodies are of clinical relevance in blood transfusion and pregnancy: anti-AUG2 have caused haemolytic transfusion reactions; the only anti-AUG3 was associated with severe haemolytic disease of the fetus and newborn. ENT1 is present in almost all human tissues. It facilitates the transfer of purine and pyrimidine nucleosides and is responsible for the majority of adenosine transport across plasma membranes. Adenosine transport appears to be an important factor in the regulation of bone metabolism. The AUGnull phenotype (AUG:–1,–2,–3,–4) has been found in three siblings, who are homozygous for an inactivating splice-site mutation in SLC29A1. Although ENT1 is very likely to be absent from all cells in these three individuals, they were apparently healthy with normal lifestyles. However, they suffered frequent attacks of pseudogout, a form of arthritis, in various joints with multiple calcifications around their hand joints. Ectopic calcification in the hips, pubic symphysis, and lumbar discs was present in the propositus. The three AUGnull individuals had misshapen red cells with deregulated protein phosphorylation, but no anaemia or shortening of red cell lifespan. Defective in vitro erythropoiesis in the absence of ENT1 was confirmed by shRNA-mediated knockdown of ENT1 during in vitro erythropoiesis of CD34+ progenitor cells from individuals with normal ENT1. Nucleoside transporters, such as ENT1, are vital in the uptake of synthetic nucleoside analogue drugs, used in cancer and viral chemotherapy. It is feasible that the efficacy of these drugs would be compromised in patients with the extremely rare AUGnull phenotype.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"25 - 29"},"PeriodicalIF":2.2,"publicationDate":"2021-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42983864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Sex-Mismatched Red Blood Cell Transfusion on Endothelial Cell Activation in Critically Ill Patients","authors":"Abdulrahman Alshalani, L. van Manen, M. Boshuizen, R. van Bruggen, J. Acker, N. Juffermans","doi":"10.1159/000520651","DOIUrl":"https://doi.org/10.1159/000520651","url":null,"abstract":"Background: Observational studies suggest that sex-mismatched transfusion is associated with increased mortality. Mechanisms driving mortality are not known but may include endothelial activation. The aim of this study is to investigate the effects of sex-mismatched red blood cell (RBC) transfusions on endothelial cell activation markers in critically ill patients. Study Design and Methods: In patients admitted to the intensive care unit who received a single RBC unit, blood samples were drawn before (T0), 1 h after (T1), and 24 h after transfusion (T24) for analysis of soluble syndecan-1, soluble intercellular adhesion molecule-1, soluble thrombomodulin (sTM), von Willebrand factor antigen, interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNFα). Changes in the levels of these factors were compared between sex-matched and sex-mismatched groups. Results: Of 69 included patients, 32 patients were in the sex-matched and 37 patients were in the sex-mismatched group. Compared to baseline, sex-matched transfusion was associated with significant reduction in sTM level (p value = 0.03). Between-group comparison showed that levels of syndecan-1 and sTM were significantly higher in the sex-mismatched group compared to the sex-matched group at T24 (p value = 0.04 and 0.01, respectively). Also, TNFα and IL-6 levels showed a statistically marginal significant increase compared to baseline in the sex-mismatched group at T24 (p value = 0.06 and 0.05, respectively), but not in the sex-matched group. Discussion: Transfusion of a single sex-mismatched RBC unit was associated with higher syndecan-1 and sTM levels compared to transfusion of sex-matched RBC unit. These findings may suggest that sex-mismatched RBC transfusion is associated with endothelial activation.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"98 - 106"},"PeriodicalIF":2.2,"publicationDate":"2021-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47289700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Profiling and Bioinformatics Analysis Revealing Differential Circular RNA Expression about Storage Lesion Regulatory in Stored Red Blood Cells","authors":"Yiyu Zhang, Guoqing Huang, Zhaohu Yuan, Yonggang Zhang, Xiaojie Chen, Jianyun Huang, Nan Li, Zhen Liu, W. Zhong, Huikang Huang, Canze Huang, Yaming Wei","doi":"10.1159/000519626","DOIUrl":"https://doi.org/10.1159/000519626","url":null,"abstract":"Introduction: Circular RNA (circRNA) plays an important role in regulating metabolism of red blood cells (RBCs) and their storage lesions, but the study of how circRNA expression changes in stored RBCs has rarely been conducted. Methods: The expression change of circRNA was systemically evaluated via high-throughput sequencing on healthy RBCs on day 0, 20, and 40. And then we confirmed the reliability of the high-throughput sequencing analysis by RT-qPCR characterization on selected circRNAs. A higher parental gene enrichment was used to explore circRNA function in pathways. In addition, we deciphered a dysregulated circRNA-related ceRNAs network, and identified three circRNA-miRNA-mRNA regulatory axes related to storage lesion. Results: We identified 2,586 known and 6,216 putative novel circRNAs, more than 100 circRNAs expression levels were shifted, and the number of downregulated circRNAs was greater with longer storage time. Furthermore, a higher parental gene enrichment related to circRNA was found in pathways, including cAMP signaling pathway, ubiquitin-mediated proteolysis, apoptosis, adhesion, MAPK signaling pathway, cystine methionine metabolism, RNA degradation, RNA transport, TGF-β, and actin regulatory pathway. hsa_circ_0007127-miR-513a-5p-SMAD4, hsa_circ_0000033-miR-19a-3p-VAMP3, and hsa_circ_0005546-miR-4720-CCND3 regulatory axes related to storage lesion was found. Conclusions: Through investigation in circRNAs profile and circRNA-miRNA-mRNA interactions, this study provides insights on stored RBC circRNA expression changes, which closely relate to the storage lesion of RBCs and their physiological functions.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"76 - 87"},"PeriodicalIF":2.2,"publicationDate":"2021-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44039198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortality in Critically Ill Patients Does Not Differ according to Transfusion Strategy","authors":"F. Sanfilippo, L. La Via, P. Murabito, M. Astuto","doi":"10.1159/000520476","DOIUrl":"https://doi.org/10.1159/000520476","url":null,"abstract":"Dear Editor, We read with great interest the meta-analysis by Zhang et al. [1] comparing the effects of two transfusion strategies in critically ill patients. The authors conclude that the restrictive transfusion strategy potentially reduced in-hospital mortality in critically ill adults as compared with a more liberal strategy. Unfortunately, we have several concerns in regard to this study and its results. First of all, as per the inclusion criteria stated by the authors, the meta-analysis focused on trials reporting mortality in critically ill adults receiving restrictive or liberal red-cell transfusion. The authors decided to include only critically ill patients with hemoglobin concentrations of 90 g/L or less on admission. Considering such criteria, we note that they missed the study by Mazza et al. [2] conducted in septic shock patients; conversely, they included the study by Mazer et al. [3] where the authors included patients with baseline values of hemoglobin over 130 g/L. Nonetheless, mild errors in inclusion of studies may happen [4], and our colleagues did a very hard work when screening studies from a huge literature search. Importantly, by strictly limiting the inclusion of studies according to the hemoglobin levels on admission, at least five important trials conducted in a cardiac surgery population [5–7] and in patients with traumatic brain injury [8, 9] were excluded by the meta-analysis. A second consideration that warrants further caution when interpreting the results of the meta-analysis [1] is the authors’ choice to perform a meta-analysis with a fixedeffects model, which assumes that the “true effect” is the same across studies. However, it is unlikely that all included studies have an identical or similar “true effect” due to the clinical heterogeneity of the included populations, ranging from all the critically ill patients admitted to intensive care to a more specific population (septic shock or patients undergoing cardiac surgery). More importantly, the fixed-effects model should not be used when there is statistical heterogeneity (I2) as in most of the forest plots of the meta-analysis by Zhang et al. [1]. In such cases, it is strongly advisable to use a randomeffects model, which better balances the weights of the included studies [10]. A third concern regards the authors’ decision to separate the analyses on the outcome of mortality into several endpoints. This resulted in 7 forest plots on the same outcome (mortality), but most of them included a very low number of studies (1–3 studies). For instance, the conclusion on a reduction of in-hospital mortality with a restrictive strategy seems rather hazardous as it is based on 2 studies only. With such a low number of included studies, it is difficult to interpret also the robustness of the results, considering that a trial sequential analysis has not been carried out [11]. In order to correct for all the above-mentioned concerns, we provide a forest plot including the ","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"62 - 64"},"PeriodicalIF":2.2,"publicationDate":"2021-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48858458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"G. Bein","doi":"10.1159/000519987","DOIUrl":"https://doi.org/10.1159/000519987","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47422669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"«Zero Bleeds» – realistisches Behandlungsziel bei Hämophilie A","authors":"Amy L. Dunn","doi":"10.1159/000519809","DOIUrl":"https://doi.org/10.1159/000519809","url":null,"abstract":"information@karger.com www.karger.com eignisse mehr hatten [2] und diese Patienten insgesamt über eine bessere Lebensqualität berichteten [3]. Aus Sicht der erfahrenen Hämostaseologin ist eine Blutungsfreiheit («Zero Bleeds») ein realistisches Therapieziel, das Hämophilie-A-Patienten und das Behandlungsteam unbedingt anstreben sollten, weil es die Lebensqualität von Patienten mit Hämophilie A deutlich verbessern kann.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"48 1","pages":"316 - 318"},"PeriodicalIF":2.2,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47104755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}