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Impact of Haplotypes on the Frequency of Morbid Complications in Homozygous SSFA2 Sickle Cell Disease in Cote D’ivoire 单倍型对科特迪瓦纯合子SSFA2镰状细胞病发病并发症频率的影响
Pub Date : 2021-12-14 DOI: 10.26420/austinhematol.2021.1043
Silue Da, Ndhatz E, Ayemou R, K. B., Nanho Dc, Kamara I, Meite N, Bognini As, Botti Rp, Kouakou I, Djeket R, Koff Kg
Background: Sickle cell disease is a constitutional hemoglobin disease witch poses a public health problem in Côte d’Ivoire due to its prevalence and complications. The homozygous form (SSFA2) is the most severe. The proportion of hemoglobin F by its property determines the haplotype. Authors wanted to determine the impact of these haplotypes on the frequency of morbid complications. Methods: Our study was a transversal type and analytical aims, occurred in the clinical hematology department of the University Hospital of Yopougon over a 3 months period. Our study included 150 SSFA2 patients with complications. The statistical test used was the student. Results: The mean age was 11 years, (6 months to 42 years). The sex ratio was 1.05. The mean rate of hemoglobin S was 86%, of which 17% had severe haplotype, 37% intermediate haplotype, and 45% benign haplotype. Infectious complications were the most frequent (58.72%) (Malaria 53.47%; bronchial pneumonia: 28.22%), followed by anemic complications (36.92%) and ischemic complications (4.36%). Deglobulization crisis was the major acute anemic complication (97.5%) followed by splenic sequestration (2.5%). Chronic anemic complications were dominated by leg ulcers (57.14%) followed by biliary lithiasis (42.86%). Aseptic necrosis of the femoral head was the most frequent ischemic complication (46.66%), followed by retinopathy (33.33%), and then stroke (20%). The severe haplotype was associated with a high frequency of complications in general and infectious complications in particular. (P=0.005) Conclusion: The clinical expression of the SSFA2 homozygous form and the occurrence of complications is closely related to the haplotype.
背景:镰状细胞病是一种体质性血红蛋白疾病,由于其患病率和并发症,在Côte科特迪瓦构成了一个公共卫生问题。纯合子型(SSFA2)最为严重。血红蛋白F的比例由其性质决定单倍型。作者想要确定这些单倍型对病态并发症发生频率的影响。方法:本研究为横向型,目的为分析性研究,研究时间为3个月,发生于育蒲岗大学附属医院临床血液科。我们的研究纳入了150例伴有并发症的SSFA2患者。使用的统计检验是学生。结果:患者平均年龄11岁(6个月~ 42岁)。性别比为1.05。血红蛋白S的平均发生率为86%,其中重度单倍型占17%,中度单倍型占37%,良性单倍型占45%。感染并发症发生率最高(58.72%)(疟疾53.47%;支气管肺炎占28.22%,其次是贫血并发症(36.92%)和缺血性并发症(4.36%)。去全球化危机是最主要的急性贫血并发症(97.5%),其次是脾隔离(2.5%)。慢性贫血并发症以腿部溃疡为主(57.14%),其次为胆道结石(42.86%)。无菌性股骨头坏死是最常见的缺血性并发症(46.66%),其次是视网膜病变(33.33%),其次是脑卒中(20%)。严重的单倍型通常与并发症的高频率相关,特别是感染性并发症。(P=0.005)结论:SSFA2纯合子型的临床表达与并发症的发生与单倍型密切相关。
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引用次数: 0
Molecular Screening of Hemoglobin E Variant in Anemia Patients of Eastern UP Population, India 印度北方邦东部人群贫血患者血红蛋白E变异的分子筛选
Pub Date : 2021-11-23 DOI: 10.26420/austinhematol.2021.1042
R. V, Y. U, K. P
Hemoglobinopathy is one of the most common monogenic disorders. This is prevalent in South East Asia. More than 700 heboglobinopathies are reported worldwide, out of which HbS and HbE are also prevalent in India. The objective of the present study is to determine the frequency of HbE in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from all the collected blood samples. PCR-RFP method was used to analyze the HbE mutation. Out of 350 samples analyzed, one individual was Heterozygous (HbE/N) and one individual was Homozygous (HbE/E) for HbE mutation. In conclusion, the βE allele frequency was observed as 0.42% in Eastern UP population. Percentage of both heterozygous and homozygous genotypes were 0.28%.
血红蛋白病是最常见的单基因疾病之一。这在东南亚很普遍。全世界报告了700多种heboglobinopathies,其中HbS和HbE在印度也很流行。本研究的目的是确定东部北方邦人口中HbE的频率。在获得书面同意后,采集了350人的血样,并从所有血样中提取了基因组DNA。采用PCR-RFP方法对HbE突变进行分析。在350个样本中,HbE突变为杂合型(HbE/N)和纯合型(HbE/E)各1例。结果表明,东部UP人群βE等位基因频率为0.42%。杂合型和纯合型的比例均为0.28%。
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引用次数: 0
Genetics or Environmental Factor? Two Siblings with Myeloid Leukaemia: Case Report 遗传还是环境因素?两名兄弟姐妹患有髓性白血病:病例报告
Pub Date : 2021-10-18 DOI: 10.26420/austinhematol.2021.1041
Ibijola Aa, Adegbamigbe Oj, Okunlola Ai
We present two female siblings of ages 28 and 21 years who developed myeloid Leukaemia concurrently within a year. No family history of haematological malignancy but there was positive history of undue exposure to herbicides and pesticides. Objective: To create more awareness on the need to observe bio safety measures when handling hazardous agents.
我们介绍了两名年龄分别为28岁和21岁的女性兄弟姐妹,她们在一年内并发患上骨髓性白血病。无血液病恶性家族史,但有过度接触除草剂和农药的阳性史。目的:提高人们在处理危险品时遵守生物安全措施的意识。
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引用次数: 1
Successful Treatment of Pure Red Cell Aplasia and Chronic GVH with Rituximab after ABO Mismatched HSCT 利妥昔单抗成功治疗ABO错配HSCT后的纯红细胞发育不全和慢性GVH
Pub Date : 2021-07-13 DOI: 10.26420/austinhematol.2021.1040
S. Haidouri, Mehtat Em, S. Jennane, H. Elmaaroufi, M. Mikdame, K. Doghmi
Background: Pure Red Cell Aplasia (PRCA) is a rare complication of ABO mismatched hematopoietic stem cell transplantation; there isn’t no standard of care, here we report a case of successful treatment by Rituximab in a refractory PRCA and chronic graft versus host disease. Case Presentation: A 26-year-old woman with PRCA following ABOmismatched allogeneic HSCT for chronic myeloid leukemia, associated with steroid refractory chronic hepatic graft versus host disease, treated with 4 doses of Rituximab 375mg/m² weekly, with an increase in her hemoglobin level and improvement of her liver’s enzymes. Conclusion: The interest of this case is to report the important therapeutic result of Rituximab, widely used in literature, especially if chronic Graft Versus host disease is associated.
背景:纯红细胞发育不全(PRCA)是ABO血型错配造血干细胞移植的罕见并发症;没有标准的护理,在这里我们报告一例成功的利妥昔单抗治疗难治性PRCA和慢性移植物抗宿主病。病例介绍:一名26岁的女性,慢性髓性白血病伴类固醇难治性慢性肝移植物抗宿主病,在接受异基因HSCT治疗后出现PRCA,每周使用4剂量的利妥昔单抗375mg/m²,其血红蛋白水平升高,肝脏酶改善。结论:本病例的兴趣是报告利妥昔单抗的重要治疗效果,在文献中广泛使用,特别是慢性移植物抗宿主病。
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引用次数: 0
Immune Reconstitution Inflammatory Syndrome Associated with Hepatosplenic Candidiasis in a Patient with Acute Myeloblastic Leukemia: Possible Pathogenesis and Treatment in the Light of Current Knowledge 急性髓母细胞白血病患者肝脾念珠菌病相关的免疫重建炎症综合征:根据目前的知识,可能的发病机制和治疗
Pub Date : 2021-06-28 DOI: 10.26420/austinhematol.2021.1039
Z. Bıçakcı, D. Koca, G Bozbeyoglu
Acquired immune deficiencies caused by different etiologies, promote invasive fungal infections. When this immunity begins to improve, it can induce an excessive inflammatory response defined as Immune Reconstitution Inflammatory Syndrome (IRIS). Hepatosplenic Candidiasis (HSC) can be considered a form of IRIS syndrome as it occurs following neutrophil recovery in patients treated for acute leukemia. Differentiating IRIS from a single fungal infection or treatment failure due to a similar clinical picture is a real diagnostic problem. Misdiagnosis and subsequently ineffective treatment with antifungal therapy instead of anti-inflammatory drugs, may lead fatal course of the disease. A deep and prolonged neutropenia developed after the first induction chemotherapy in our two and a half-year-old male patient who was followed up in our clinic with the diagnosis of Acute Myeloblastic Leukemia (AML). Our patient had fever, abdominal pain as well as his Gamma Glutamyl Transferase (GGT) and Alkaline Phosphatase (ALP) levels increased during neutropenia recovery. He was diagnosed with hepatosplenic candidiasis, by observing ‘target like abscesses’ on dynamic Magnetic Resonance Imaging (MRI) taken for his newly developing symptoms and laboratory findings while recovering neutropenia. After his first and third induction chemotherapy courses, his fever persisted although antifungal therapy, steroid treatment was initiated considering IRIS. After his re-intensification course, because of the same flare-up symptoms, we started immunglobulin in addition to steroid. With methylprednisolone and intravenous immunoglobulin, his symptoms improved and significant regression was observed in the lesions ‘target-like abscesses’ on MRI and in the laboratory values. Result: IRIS should be considered for patients with hepatic candidiasis whose have persistent fever despite appropriate antifungal therapy. Glucocorticoid should be started first for an anti-inflammatory effect.
不同病因引起的获得性免疫缺陷,促进侵袭性真菌感染。当这种免疫开始改善时,它可以诱导过度的炎症反应,定义为免疫重建炎症综合征(IRIS)。肝脾念珠菌病(HSC)可被认为是IRIS综合征的一种形式,因为它发生在急性白血病治疗患者中性粒细胞恢复后。鉴别IRIS与单一真菌感染或治疗失败,由于类似的临床表现是一个真正的诊断问题。误诊和随后用抗真菌治疗代替抗炎药物治疗无效,可能导致疾病的致命过程。我们的两岁半的男性患者在第一次诱导化疗后出现了深度和长期的中性粒细胞减少症,他被诊断为急性髓母细胞白血病(AML)。我们的病人有发烧,腹痛,并且他的γ -谷氨酰转移酶(GGT)和碱性磷酸酶(ALP)水平在中性粒细胞减少恢复期间升高。他被诊断为肝脾念珠菌病,在动态磁共振成像(MRI)上观察到“靶样脓肿”,这是他在恢复中性粒细胞减少症时新出现的症状和实验室结果。在他的第一次和第三次诱导化疗疗程后,他的发烧持续,尽管抗真菌治疗,类固醇治疗考虑IRIS开始。在他的再次强化治疗后,由于同样的突发症状,我们开始使用免疫球蛋白和类固醇。使用甲基强的松龙和静脉注射免疫球蛋白后,他的症状得到改善,MRI和实验室值显示病灶“靶样脓肿”明显消退。结果:肝念珠菌病患者经适当抗真菌治疗后仍持续发热,应考虑IRIS。首先应使用糖皮质激素,以发挥抗炎作用。
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引用次数: 0
Transfusion Related Acute Lung Injury (TRALI): A Rare Case after Single Packed Red Blood Cell (PRBC) Unit Transfusion 输血相关急性肺损伤(TRALI):一个罕见的病例后,单包装红细胞(PRBC)单位输血
Pub Date : 2021-06-23 DOI: 10.26420/austinhematol.2021.1038
Balaban Pm
Transfusion Related Acute Lung Injury (TRALI) is a rare but serious adverse event of allogeneic blood component transfusion, manifested typically by shortness of breath, a non-productive cough, fever, and hypotension, mostly seen after plasma component transfusion collected from female donors. We here present a rare case of TRALI requiring Intensive Care Unit (ICU) support after transfusion of single Packed Red Blood Cell (PRBC) unit collected from a male donor. The present case emphasizes that TRALI to be ruled out first in any patient showing acute /respiratory distress within 6hrs of transfusion, with prompt management and notification to transfusion services.
输血相关急性肺损伤(TRALI)是一种罕见但严重的异基因血液成分输血不良事件,典型表现为呼吸短促、无痰咳嗽、发热和低血压,主要见于从女性供体采集的血浆成分输血后。我们在此报告一例罕见的TRALI病例,需要重症监护病房(ICU)支持后,输入单个包装红细胞(PRBC)单位从男性供者收集。本病例强调,在输血后6小时内出现急性/呼吸窘迫的任何患者应首先排除TRALI,并及时进行管理并通知输血服务部门。
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引用次数: 0
Tricuspid Annular Plane Systolic Excursion as a Potential Marker of Hospital Utilization in Patients with Sickle Cell Disease 镰状细胞病患者三尖瓣环平面收缩漂移作为医院使用的潜在标志
Pub Date : 2021-06-08 DOI: 10.26420/austinhematol.2021.1037
Seyller Hr, Harkins Ap, R. A, Mahrat S, Gutierrez D, C. J., Khong Ht
Objective: Pulmonary Artery Hypertension (PAH) is an independent risk factor for increased morbidity in Sickle Cell Disease (SCD) patients. Tricuspid Annular Plane Systolic Excursion (TAPSE) can be used as a surrogate measure for PAH. The objective of this study was to determine whether lower TAPSE values are associated with increased Emergency Department (ED) and hospital utilization. Methods: TAPSE measurements were retrospectively obtained from bedside echocardiograms from a convenience sample of 28 SCD patients presenting to the ED with SCD pain. TAPSE was considered abnormal if <24.9mm, one standard deviation below the mean TAPSE for SCD patients. Medical records were reviewed to determine ED visits and hospital overnight stays over a two-year period. A t-test analysis and Pearson’s correlation were used for each variable. Results: The initial sample included 28 SCD patient encounters. TAPSE measurements were abnormal in 5 patients and normal in 23 patients. The mean number of ED visits/year for the abnormal and normal TAPSE group were 23.00 and 16.87, respectively (p=0.57) with moderate negative linearity (p=0.03). The mean number of hospitalized days for abnormal and normal TAPSE groups was 108.8 and 59.6, respectively (p=0.10) with moderate negative linearity (p=0.07). Conclusion: Lower TAPSE values (<24.9mm) in SCD patients were associated with higher ED and hospital utilization. If findings are replicated in larger studies, TAPSE may serve as a marker of morbidity in SCD patients presenting to the ED.
目的:肺动脉高压(PAH)是镰状细胞病(SCD)患者发病率增加的独立危险因素。三尖瓣环形平面收缩偏移(TAPSE)可作为PAH的替代测量。本研究的目的是确定较低的TAPSE值是否与急诊科(ED)和医院使用率的增加有关。方法:回顾性地从床边超声心动图中获得28例伴有SCD疼痛的ED患者的TAPSE测量值。如果TAPSE <24.9mm,则认为是异常的,比SCD患者的平均TAPSE低一个标准差。研究人员审查了医疗记录,以确定两年内急诊科的就诊情况和住院时间。对每个变量进行t检验分析和Pearson相关性分析。结果:初始样本包括28例SCD患者。5例患者TAPSE测量异常,23例正常。TAPSE异常组和正常组的平均ED就诊次数/年分别为23.00次和16.87次(p=0.57),与中度负线性关系(p=0.03)。TAPSE异常组和正常组的平均住院天数分别为108.8和59.6天(p=0.10),并呈中度负线性关系(p=0.07)。结论:SCD患者较低的TAPSE值(<24.9mm)与较高的ED和住院率相关。如果研究结果在更大规模的研究中得到重复,那么TAPSE可能会作为SCD患者出现急诊科的发病率标志。
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引用次数: 0
Retrospective Study of Blood Transfusion Complications in the Capital Region of Denmark from 1999-2017: Characteristics of Potentially “Dangerous” Blood Donors?s 1999-2017年丹麦首都地区输血并发症的回顾性研究:潜在“危险”献血者的特征?年代
Pub Date : 2021-06-05 DOI: 10.26420/austinhematol.2021.1036
Have Sb, Hother Ce, V. Jh, Dziegiel Mh, Hansen Mb, Ostrowski Sr
Objectives: We hypothesized that the blood donors most frequently involved in complications would induce more and severe immunologic transfusion complications compared to other donors, i.e. potentially “dangerous”. Secondary aims were differences in demographic variables. Background: Donor-related mechanisms may contribute to allogeneic blood transfusion complications and may represent a dangerous treatment adverse event. Materials and Methods: By analyzing transfusion data from the Capital Region of Denmark from January 1, 1999 to December 31, 2017; 2,574,646 blood transfusions and 9,779 transfusion complications from 194,432 blood donors were included in our dataset. We divided donors into three groups based on the number of complications and complication frequency (potentially “dangerous” vs. two differently defined control groups i.e. control 1 and control 2), and compared the nature of transfusion complications and demographic variables by statistical analysis. Results: There were no differences in the proportion of complication types between the potentially “dangerous” donors and control donors, and no difference in the proportion of complications from RBCs, plasma or platelets according to ABO and RhD blood types. However, more potentially “dangerous” donors were female and had ABO blood type B compared to control donors (p<0.001 and p<0.01, respectively). The potentially “dangerous” donors were younger compared to control donors (40.36 years vs. 45.24 years and 42.84 years, p<0.001). Conclusion: The potentially “dangerous” did not display more/severe immunologic transfusion complications compared to control donors. However, they differed in regards to gender, age and blood type. Further research regarding the differences in complication frequency per donor and demographic variety is warranted.
目的:我们假设,与其他献血者相比,最常发生并发症的献血者会诱发更多和更严重的免疫输血并发症,即潜在的“危险”。次要目的是人口统计学变量的差异。背景:供体相关机制可能导致异基因输血并发症,并可能是一种危险的治疗不良事件。材料与方法:对1999年1月1日至2017年12月31日丹麦首都地区输血数据进行分析;我们的数据集中包括来自194,432名献血者的2,574,646次输血和9,779次输血并发症。我们根据并发症的数量和并发症的频率将献血者分为三组(潜在“危险”与两个不同定义的对照组,即对照1和对照2),并通过统计分析比较了输血并发症的性质和人口统计学变量。结果:潜在“危险”献血者与对照献血者并发症类型比例无差异,根据ABO血型和RhD血型,红细胞、血浆和血小板并发症比例无差异。然而,与对照组相比,ABO血型B的女性献血者更具潜在的“危险”(分别p<0.001和p<0.01)。与对照组相比,潜在“危险”献血者更年轻(40.36岁,45.24岁和42.84岁,p<0.001)。结论:与对照供者相比,潜在的“危险”输血没有显示出更多/严重的免疫并发症。然而,他们在性别、年龄和血型方面存在差异。进一步研究每个供者并发症频率的差异和人口统计学差异是有必要的。
{"title":"Retrospective Study of Blood Transfusion Complications in the Capital Region of Denmark from 1999-2017: Characteristics of Potentially “Dangerous” Blood Donors?s","authors":"Have Sb, Hother Ce, V. Jh, Dziegiel Mh, Hansen Mb, Ostrowski Sr","doi":"10.26420/austinhematol.2021.1036","DOIUrl":"https://doi.org/10.26420/austinhematol.2021.1036","url":null,"abstract":"Objectives: We hypothesized that the blood donors most frequently involved in complications would induce more and severe immunologic transfusion complications compared to other donors, i.e. potentially “dangerous”. Secondary aims were differences in demographic variables. Background: Donor-related mechanisms may contribute to allogeneic blood transfusion complications and may represent a dangerous treatment adverse event. Materials and Methods: By analyzing transfusion data from the Capital Region of Denmark from January 1, 1999 to December 31, 2017; 2,574,646 blood transfusions and 9,779 transfusion complications from 194,432 blood donors were included in our dataset. We divided donors into three groups based on the number of complications and complication frequency (potentially “dangerous” vs. two differently defined control groups i.e. control 1 and control 2), and compared the nature of transfusion complications and demographic variables by statistical analysis. Results: There were no differences in the proportion of complication types between the potentially “dangerous” donors and control donors, and no difference in the proportion of complications from RBCs, plasma or platelets according to ABO and RhD blood types. However, more potentially “dangerous” donors were female and had ABO blood type B compared to control donors (p<0.001 and p<0.01, respectively). The potentially “dangerous” donors were younger compared to control donors (40.36 years vs. 45.24 years and 42.84 years, p<0.001). Conclusion: The potentially “dangerous” did not display more/severe immunologic transfusion complications compared to control donors. However, they differed in regards to gender, age and blood type. Further research regarding the differences in complication frequency per donor and demographic variety is warranted.","PeriodicalId":401162,"journal":{"name":"Austin Hematology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131185706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial Intelligence Tools in the Global Deployment of Vaccines and Alternatives Modes of Immunotherapy for the Evolving SARS-CoV-2 Variants, From the UK Perspectivess 从英国的角度来看,人工智能工具在全球部署疫苗和不断演变的SARS-CoV-2变体免疫治疗的替代模式
Pub Date : 1900-01-01 DOI: 10.26420/austinhematol.2021.1034
S. J
This commentary is focused on a working title: “The story of a different year, with enormous challenges imposed by CoV-2 strains” and how we have responded to the way back to normality, where the use of newer artificial intelligence tools become extremely useful in the procedurals, patterns and big data analyses of the “new generation of vaccines and convalescent plasma therapy for management of CoV-2”. The goal is to highlights the current status of deployment of vaccines, from the UK perspectives, in two specific areas.
这篇评论的重点是一个工作标题:“不同的一年,新冠病毒毒株带来的巨大挑战”,以及我们如何应对恢复正常的道路,在“新一代新冠病毒疫苗和恢复期血浆治疗”的程序、模式和大数据分析中,使用更新的人工智能工具变得非常有用。目标是从联合王国的角度,强调在两个具体领域部署疫苗的现状。
{"title":"Artificial Intelligence Tools in the Global Deployment of Vaccines and Alternatives Modes of Immunotherapy for the Evolving SARS-CoV-2 Variants, From the UK Perspectivess","authors":"S. J","doi":"10.26420/austinhematol.2021.1034","DOIUrl":"https://doi.org/10.26420/austinhematol.2021.1034","url":null,"abstract":"This commentary is focused on a working title: “The story of a different year, with enormous challenges imposed by CoV-2 strains” and how we have responded to the way back to normality, where the use of newer artificial intelligence tools become extremely useful in the procedurals, patterns and big data analyses of the “new generation of vaccines and convalescent plasma therapy for management of CoV-2”. The goal is to highlights the current status of deployment of vaccines, from the UK perspectives, in two specific areas.","PeriodicalId":401162,"journal":{"name":"Austin Hematology","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127871179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Austin Hematology
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