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Challenges in perioperative blood transfusions in kidney transplantation and the need for Patient Blood Management. 肾移植围手术期输血的挑战和患者血液管理的必要性。
IF 3.7 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-10-09 DOI: 10.2450/BloodTransfus.577
Diana Rodríguez-Espinosa, José J Broseta, Anney Rosario, Judit Cacho, Beatriz Tena, Elena Cuadrado-Payan, Ramsés Marrero, Beatriu Bayés, Nuria Esforzado, Mireia Musquera, Fritz Diekmann, Aleix Cases, Misericordia Basora

Background: Anemia is highly prevalent in end-stage chronic kidney disease patients, increasing their risk of receiving blood transfusions during and on the days after a kidney transplant (KTx) surgery. However, there is currently a lack of data that thoroughly describes this phenomenon in this population, the associated risk factors, and how they could benefit from the application of Patient Blood Management (PBM) guidelines.

Materials and methods: Observational study. All adult patients who received a KTx between January 1st, 2020, and December 31st, 2021, were included and followed up to six months after transplantation. Those who received a multiorgan transplant, whose data was missing in the electronic health records, and who had primary non-function were excluded. We recorded donor and recipient characteristics, cold ischemia time, preoperative hemoglobin concentration, iron status deficiency biomarkers, incidence of delayed graft function and biopsy-proven graft rejections, and graft function at discharge and 6 months after transplantation.

Results: We found that a high amount (39%) of KTx recipients required at least one blood transfusion during the perioperative period. And that 1) most of these patients had anemia at the time of transplantation (85.4%), 2) iron status upon admission was associated with the transfusion of more blood units (3.9 vs 2.7, p=0.019), 3) surgical reintervention (OR 7.28, 2.35-22.54) and deceased donor donation (OR 1.99, 1.24-3.21) were associated with an increased risk of transfusion, and finally, 4) there was an association between a higher number of blood units transfused and impaired kidney graft function six months after hospital discharge (1.6 vs 1.9, p=0.02).

Conclusions: In conclusion, PBM guidelines should be applied to patients on the KTx deceased donor waiting list and especially those scheduled to receive a transplant from a living donor. This could potentially increase the utilization efficiency of blood products and avoid transfusion-related severe adverse effects.

背景:贫血在终末期慢性肾脏病患者中非常普遍,增加了他们在肾移植(KTx)手术期间和手术后接受输血的风险。然而,目前缺乏全面描述该人群中这一现象、相关风险因素以及他们如何从患者血液管理(PBM)指南的应用中受益的数据。材料和方法:观察研究。纳入2020年1月1日至2021年12月31日期间接受KTx的所有成年患者,并在移植后随访至六个月。那些接受了多器官移植、电子健康记录中数据缺失以及原发性无功能的患者被排除在外。我们记录了供体和受体的特征、冷缺血时间、术前血红蛋白浓度、铁缺乏生物标志物、移植物功能延迟和活检证实的移植物排斥反应的发生率,以及出院时和移植后6个月的移植物功能。结果:我们发现大量(39%)的KTx接受者在围手术期至少需要一次输血。1)这些患者中的大多数在移植时患有贫血(85.4%),2)入院时的铁状态与输注更多的血液单位有关(3.9 vs 2.7,p=0.019),3)手术再干预(OR 7.28,2.35-22.54)和已故捐赠者捐赠(OR 1.99,1.24-3.21)与输注风险增加有关,最后,4)出院六个月后,输血单位数增加与肾移植功能受损之间存在关联(1.6比1.9,p=0.02)。结论:总之,PBM指南应适用于KTx已故捐赠者等待名单上的患者,尤其是那些计划接受活体捐赠者移植的患者。这可能会提高血液制品的利用效率,避免与输血相关的严重不良反应。
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引用次数: 0
Knowledge, attitude and practice survey of bacterial contamination of blood for transfusion in the Democratic Republic of the Congo. 刚果民主共和国输血细菌污染的知识、态度和实践调查。
IF 3.7 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-11-17 DOI: 10.2450/BloodTransfus.586
Anne-Sophie Heroes, Paul Kabamba, Aimée Luyindula, Bernard Bongenya, Pierre Nzazi, Monica Nasali, Cathérine Akele, Marie-Paule Lusinga, John Ekofo, José Coene, Inge Van Cauwenberg, Philippe Vandekerckhove, Octavie Lunguya, Jan Jacobs

Background: We assessed healthcare worker's knowledge-attitude-practice regarding bacterial contamination of blood products in the Democratic Republic of the Congo.

Materials and methods: In three hospitals and the National Blood Transfusion Center (NBTC), two multiple-choice surveys were completed on a tablet computer: one each, for blood bank (31 questions) and for clinical ward staff (20 questions). A score was calculated for 11 overlapping knowledge questions.

Results: Among 247 participants (blood bank No.=62, ward No.=185), median (range) knowledge score was 10 (2-19) on a maximum of 20, with blood bank staff (12/20) scoring higher than clinical ward staff (9/20) (p<0.0001). Half (50.2%) of 247 participants recalled previous training in transfusion medicine. Participants had limited understanding of and compliance with NBTC-recommended preventive measures: incorrect assumption that wearing gloves prevents bacterial contamination (83.8%) and that blood banks test donor blood for bacteria (59.9%). Half (50.0%) of blood bank staff did not acknowledge the NBTC-recommended antisepsis procedure, 62.1% did not apply the appropriate number of antisepsis steps, and 32.3% saw no harm in touching the venipuncture site after antisepsis. Presence of bacteria on healthy skin (62.3%) and blood bank fomites (examination gloves: 30.8%, soap: 62.8%) was underestimated. Although 92.4% of clinical ward staff said to easily recognize transfusion reactions, only 15.7% recognized septic reactions and post-transfusion antibiotic treatment practices were not consistent. Challenges reported by blood bank staff and particular for low-resource settings were: frequent power cuts (98.4%), transport of blood products by patient attendants (41.1%), without cooling elements (64.4%), and reuse of finished antiseptic/disinfectant containers (75.4%).

Discussion: The present study points to gaps in knowledge, attitudes, practices along sampling, cold chain and transfusion which can feed customized training and monitoring.

背景:我们对刚果民主共和国医护人员在血液制品细菌污染方面的知识-态度-实践进行了评估:在三家医院和国家输血中心(NBTC),通过平板电脑完成了两项选择题调查:血库(31 道题)和临床病房工作人员(20 道题)。对 11 个重叠的知识问题进行了评分:在 247 名参与者(血库人数=62,病房人数=185)中,知识得分的中位数(范围)为 10(2-19)分,最高分为 20 分,血库工作人员(12/20)的得分高于临床病房工作人员(9/20)(讨论:本研究指出了在采样、冷链和输血的知识、态度和实践方面存在的差距,可为定制培训和监测提供参考。
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引用次数: 0
Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology. 儿童急性免疫性血小板减少症治疗建议。意大利儿科血液学和肿瘤学协会共识会议。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2024-01-29 DOI: 10.2450/BloodTransfus.501
Giovanna Russo, Emilia Parodi, Piero Farruggia, Lucia D Notarangelo, Silverio Perrotta, Maddalena Casale, Simone Cesaro, Giovanni Del Borrello, Giovanni C Del Vecchio, Fiorina Giona, Chiara Gorio, Saverio Ladogana, Giuseppe Lassandro, Antonio Marzollo, Karolina Maslak, Maurizio Miano, Margherita Nardi, Giuseppe Palumbo, Francesca Rossi, Marco Spinelli, Alessandra Tolva, Paola Saracco, Ugo Ramenghi, Paola Giordano

Background: Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population is 1.9-6.4/100,000. ITP in children is usually a self-limiting and benign disorder. The clinical management of children with ITP often remains controversial, as robust randomized trials on the management of this disorder are lacking. Treatments vary widely in clinical practice and existing guidelines from hematology societies on clinical management offer indications based largely on expert opinion rather than strong evidence.

Materials and methods: The Coagulative Disorder Working Group of the Italian Association of Pediatric Hematology and Oncology (AIEOP) developed this document to collect shared expert opinions on the management of newly diagnosed ITP, updating previous guidelines and providing recommendations to pediatricians. Each statement has been given a score expressing the strength of evidence, appropriateness and agreement among participants.

Results: Clear-cut definitions of the clinical phases of the disease and clinical response are stated. Recommendations are given regarding the classification of bleeding symptoms, evaluation of bleeding risk, diagnosis, and prognostic factors. Specific recommendations for treatment include indications for first-line (intravenous immunoglobulins, steroids) and second-line (combined therapy, thrombopoietin receptor agonists, immunosuppressive drugs, rituximab) therapeutic agents, as well as hemorrhagic emergency and supportive treatment, including emergency splenectomy. The optimal follow-up schedule, the relation between ITP and vaccines and health-related quality-of-life issues are also discussed.

Discussion: The panel achieved broad consensus on issues related to how to treat children with newly diagnosed ITP, providing a comprehensive review of all relevant clinical aspects.

背景:免疫性血小板减少症(ITP)是一种获得性免疫介导的出血性疾病,以孤立的血小板减少为特征。据估计,其在儿童人群中的年发病率为 1.9-6.4/100,000 。儿童 ITP 通常是一种自限性良性疾病。由于缺乏有关治疗这种疾病的可靠的随机试验,ITP 儿童的临床治疗往往仍存在争议。临床实践中的治疗方法千差万别,血液学协会现有的临床治疗指南主要根据专家意见而非有力证据提供适应症:意大利儿科血液学和肿瘤学协会(AIEOP)的凝血障碍工作组制定了这份文件,以收集专家对新诊断的 ITP 管理的共同意见,更新之前的指南并向儿科医生提供建议。每项声明都有一个分数,表示证据的强度、适当性和参与者之间的一致意见:结果:明确定义了疾病的临床阶段和临床反应。就出血症状分类、出血风险评估、诊断和预后因素提出了建议。具体的治疗建议包括一线(静脉注射免疫球蛋白、类固醇)和二线(联合疗法、促血小板生成素受体激动剂、免疫抑制剂、利妥昔单抗)治疗药物的适应症,以及出血急救和支持性治疗,包括急诊脾切除术。此外,还讨论了最佳随访时间表、ITP 与疫苗的关系以及与健康相关的生活质量问题:讨论:专家小组就如何治疗新确诊的 ITP 儿童的相关问题达成了广泛共识,对所有相关临床方面进行了全面回顾。
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引用次数: 0
Thrombotic thrombocytopenic purpura: optimal management of plasma exchange, platelets and infection prevention. 血栓性血小板减少性紫癜:血浆置换、血小板和感染预防的优化管理。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2024-03-04 DOI: 10.2450/BloodTransfus.710
Ingrid Parra-Salinas, Juan Rodríguez-García, Saioa Zalba-Marcos, José A García-Erce
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引用次数: 0
Knowledge, attitudes and practices for blood safety in a worldwide perspective. 从全球角度看血液安全的知识、态度和实践。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-11-30 DOI: 10.2450/BloodTransfus.692
Massimo La Raja
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引用次数: 0
Advantages of high cell concentration prior to cryopreservation of initial leukapheresis in CAR-T cell therapy. 在 CAR-T 细胞疗法中冷冻保存初始白细胞前高细胞浓度的优势。
IF 3.7 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-09-06 DOI: 10.2450/BloodTransfus.542
Diego Carbonell, Silvia Monsalvo, Eva Catalá, Ana Pérez-Corral, Carolina Villegas, Carmen Falero, Gloria Ruano, Monica Martinez, Mi Kwon, Cristina Muñoz-Martínez, José Luis Díez-Martín, Jorge Gayoso, Javier Anguita

Background: Chimeric antigen receptor (CAR) T-cell therapy is increasingly used in patients affected by B-cell lymphoma and acute lymphoblastic leukemia. For logistical reasons, initial apheresis products may be cryopreserved for shipment to manufacturing centers. Due to the characteristics of these patients, cells are often collected in large volumes, meaning more bags must be cryopreserved. This requires increased storage, time and monetary costs. In this context, we aimed to evaluate a high cell concentration cryopreservation protocol by centrifugation to standardize the initial CAR-T manufacturing procedure.

Materials and methods: Sixty-eight processes of leukapheresis of 57 patients affected by refractory/relapsed B cell lymphoma and 9 patients affected by acute lymphoblastic leukemia who were eligible for anti-CD19 CAR-T cell treatment performed between June 2019 and October 2022 were analyzed. Whole blood count, percentage and number of T cells were assessed on the apheresis final product. The apheresis product, which was alternatively stored overnight at 4°C, was centrifuged, adjusting the volume to approximately 40 mL. The product was immediately cryopreserved to achieve a final cell concentration of 50-200×106 cells/ml for cryopreservation.

Results: Leukapheresis volume was reduced by almost fivefold (median: 185 to 40 mL), resulting in a higher product concentration in one bag. In addition, the number of non-target cells (monocytes, platelets and erythrocytes) was also reduced during the development of CAR-T cell therapy, thereby maintaining T lymphocyte levels and providing a purer starting material.

Discussion: The advantages of the protocol include reducing economic costs, saving storage space, simplifying the manufacturing process, and facilitating shipping logistics. In conclusion, we present a validated, simple, and cost-effective cell enrichment processing protocol that provides high-quality cryopreserved products as starting material for the CAR-T cell manufacturing process.

背景:嵌合抗原受体(CAR)T 细胞疗法越来越多地用于 B 细胞淋巴瘤和急性淋巴细胞白血病患者。由于物流原因,最初的血液净化产品可能需要低温保存,以便运往制造中心。由于这些患者的特点,细胞收集量往往很大,这意味着必须冷冻保存更多的细胞袋。这就需要增加存储、时间和金钱成本。在这种情况下,我们旨在评估一种通过离心的高浓度细胞冷冻保存方案,以规范最初的 CAR-T 生产程序:分析了2019年6月至2022年10月期间对57名难治性/复发性B细胞淋巴瘤患者和9名急性淋巴细胞白血病患者进行的68次白细胞分离过程,这些患者均符合抗CD19 CAR-T细胞治疗的条件。全血细胞计数、T细胞的百分比和数量都是通过血液净化最终产品进行评估的。离心后,将离心产物的体积调整到约 40 毫升,然后在 4°C 下保存过夜。产品立即进行冷冻保存,以达到 50-200×106 个细胞/毫升的最终细胞浓度:结果:白细胞分离体积减少了近五倍(中位数:从 185 毫升到 40 毫升),从而提高了一袋产品的浓度。此外,在 CAR T 细胞疗法的开发过程中,非靶细胞(单核细胞、血小板和红细胞)的数量也减少了,从而保持了 T 淋巴细胞的水平,并提供了更纯净的起始材料:该方案的优点包括降低经济成本、节省储存空间、简化生产流程和方便物流运输。总之,我们提出了一种经过验证、简单且经济高效的细胞富集处理方案,它能提供高质量的冷冻保存产品,作为 CAR-T 细胞制造工艺的起始材料。
{"title":"Advantages of high cell concentration prior to cryopreservation of initial leukapheresis in CAR-T cell therapy.","authors":"Diego Carbonell, Silvia Monsalvo, Eva Catalá, Ana Pérez-Corral, Carolina Villegas, Carmen Falero, Gloria Ruano, Monica Martinez, Mi Kwon, Cristina Muñoz-Martínez, José Luis Díez-Martín, Jorge Gayoso, Javier Anguita","doi":"10.2450/BloodTransfus.542","DOIUrl":"10.2450/BloodTransfus.542","url":null,"abstract":"<p><strong>Background: </strong>Chimeric antigen receptor (CAR) T-cell therapy is increasingly used in patients affected by B-cell lymphoma and acute lymphoblastic leukemia. For logistical reasons, initial apheresis products may be cryopreserved for shipment to manufacturing centers. Due to the characteristics of these patients, cells are often collected in large volumes, meaning more bags must be cryopreserved. This requires increased storage, time and monetary costs. In this context, we aimed to evaluate a high cell concentration cryopreservation protocol by centrifugation to standardize the initial CAR-T manufacturing procedure.</p><p><strong>Materials and methods: </strong>Sixty-eight processes of leukapheresis of 57 patients affected by refractory/relapsed B cell lymphoma and 9 patients affected by acute lymphoblastic leukemia who were eligible for anti-CD19 CAR-T cell treatment performed between June 2019 and October 2022 were analyzed. Whole blood count, percentage and number of T cells were assessed on the apheresis final product. The apheresis product, which was alternatively stored overnight at 4°C, was centrifuged, adjusting the volume to approximately 40 mL. The product was immediately cryopreserved to achieve a final cell concentration of 50-200×10<sup>6</sup> cells/ml for cryopreservation.</p><p><strong>Results: </strong>Leukapheresis volume was reduced by almost fivefold (median: 185 to 40 mL), resulting in a higher product concentration in one bag. In addition, the number of non-target cells (monocytes, platelets and erythrocytes) was also reduced during the development of CAR-T cell therapy, thereby maintaining T lymphocyte levels and providing a purer starting material.</p><p><strong>Discussion: </strong>The advantages of the protocol include reducing economic costs, saving storage space, simplifying the manufacturing process, and facilitating shipping logistics. In conclusion, we present a validated, simple, and cost-effective cell enrichment processing protocol that provides high-quality cryopreserved products as starting material for the CAR-T cell manufacturing process.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"239-245"},"PeriodicalIF":3.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Types of plasma exchange solution in the new scenario of thrombotic thrombocytopenic purpura treatment. 血栓性血小板减少性紫癜治疗新方案中的血浆置换液类型。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2024-03-04 DOI: 10.2450/BloodTransfus.744
Nadia García Muñoz, Sandra Ortega Sánchez, Joan R Grifols
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引用次数: 0
Aplastic anemia after SARS-CoV-2 infection or vaccines: case series and literature review. 感染 SARS-CoV-2 或接种疫苗后出现再生障碍性贫血:系列病例和文献综述。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-09-04 DOI: 10.2450/BloodTransfus.500
Bruno Fattizzo, Raffaella Pasquale, Giorgio A Croci, Loredana Pettine, Giulio Cassanello, Wilma Barcellini
{"title":"Aplastic anemia after SARS-CoV-2 infection or vaccines: case series and literature review.","authors":"Bruno Fattizzo, Raffaella Pasquale, Giorgio A Croci, Loredana Pettine, Giulio Cassanello, Wilma Barcellini","doi":"10.2450/BloodTransfus.500","DOIUrl":"10.2450/BloodTransfus.500","url":null,"abstract":"","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"266-272"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Platelet rich plasma use for treatment of acne scars: an overview of systematic reviews. 富血小板血浆用于治疗痤疮疤痕:系统综述。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-09-06 DOI: 10.2450/BloodTransfus.536
Mario Cruciani, Francesca Masiello, Ilaria Pati, Simonetta Pupella, Vincenzo De Angelis

Background: A reappraisal of the conclusions of systematic reviews (SRs) and meta-analyses validity related to Platelet-rich plasma (PRP), alone or in combination with other treatments, compared to regimens PRP-free for the treatment of acne scars.

Materials and methods: An overview of SRs. The methodological quality of the reviews was assessed using AMSTAR-2 checklist; quality of the evidence of primary studies was appraised following the GRADE approach.

Results: Fifteen SRs were included in this overview. Data were from 124 overlapping reports, based on 34 individual primary studies (10 parallel arm randomized trials, 21 split-face studies, and 3 uncontrolled studies). Most of the studies evaluated combination of PRP with microneedling or with laser therapy compared to microneedling or laser therapy without PRP. Clinical improvement (reported as degree of improvement or improvement score) and patient's satisfaction rate were significantly higher in PRP recipients compared to controls. Crusting time and duration of erythema were significantly shorter in PRP recipients compared to controls. Most of the reviews considered in this overview can be considered of low methodological quality due to the fact that several critical methodological requirements of AMSTAR-2 checklist were unmet or partially met; only 6 of the 15 reviews incorporated study quality in their conclusions, and no GRADE assessment was performed for the reported outcomes in any of the SRs. With the GRADE approach, the quality of the evidence for the outcomes analysed ranged from very low to low due to risk of bias in the primary studies, inconsistency between the studies, and imprecision.

Discussion: The low or very low certainty of evidence does not support clear clinical decision about the PRP use in combination with microneedling or laser therapy for the treatment of acne scars. Further well-designed studies are required to improve the evidence base for PRP combination therapy for acne scars.

背景:重新评估与富血小板血浆(PRP)治疗痤疮疤痕相关的系统性综述(SR)和荟萃分析的有效性结论,与不含PRP的治疗方案进行比较:研究综述。采用AMSTAR-2检查表评估综述的方法学质量;采用GRADE方法评估主要研究的证据质量:本综述共收录了 15 篇研究报告。数据来自 124 份重叠报告,基于 34 项单独的主要研究(10 项平行臂随机试验、21 项分面研究和 3 项无对照研究)。大多数研究评估了 PRP 与微针疗法或激光疗法的组合,并与不含 PRP 的微针疗法或激光疗法进行了比较。与对照组相比,PRP 受试者的临床改善(以改善程度或改善评分报告)和患者满意度明显更高。与对照组相比,PRP 接受者的结痂时间和红斑持续时间明显更短。本综述中考虑的大多数综述可被视为方法学质量较低,原因是未满足或部分满足 AMSTAR-2 检查表中的几项关键方法学要求;15 篇综述中只有 6 篇在结论中纳入了研究质量,而且没有任何一篇 SR 对报告的结果进行 GRADE 评估。根据 GRADE 方法,由于主要研究存在偏倚风险、研究之间不一致以及不精确,所分析结果的证据质量从很低到很低不等:讨论:较低或极低的证据确定性并不支持临床对 PRP 与微针或激光疗法结合使用治疗痤疮疤痕做出明确的决定。需要进一步开展设计良好的研究,以完善PRP联合疗法治疗痤疮疤痕的证据基础。
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引用次数: 0
Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual. 太平洋岛民中 RHD-CE(4-9)-D 等位基因和罕见 JK 等位基因的断裂点区域。
IF 2.4 3区 医学 Q2 HEMATOLOGY Pub Date : 2024-05-01 Epub Date: 2023-08-25 DOI: 10.2450/BloodTransfus.534
Kshitij Srivastava, Marina U Bueno, Willy A Flegel

Background: Among 710 RHD alleles, 3 alleles have been shown to express CcEe antigens and, among 67 hybrid alleles of the RHD gene, 2 alleles have evolved to include RHCE exons 4-9. No breakpoint region had been described for such RHD-CE(4-9)-D hybrid alleles. In the Kidd blood group system, the JK*02N.01 null allele is found with high prevalence in the Polynesian population. We investigated a self-identified Pacific Islander with discrepant serologic and molecular results for his C and Jkb antigens. Another 8 samples with genotype-phenotype discrepancies in the Kidd blood group system were assessed.

Materials and methods: A combination of published molecular methods and commercial kits were applied to analyze the RHD, RHCE, and SLC14A1 gene sequences, as were hemagglutination tests to determine the serologic phenotypes.

Results: Nucleotide sequencing of the RHD gene in the index case, including relevant intron stretches, and cDNA identified an RHD-CE(4-9)-D hybrid allele. Nucleotide sequencing of his RHCE gene confirmed the presence of 2 RHCE*ce alleles despite expressing the C antigen. Sequencing of his SLC14A1 gene documented the JK*02N.01 null allele. In the other 8 samples, 5 previously known SLC14A1 nucleotide substitutions were identified. The JK*02N.17 allele was determined to be Jkb-positive.

Discussion: We determined the 2 breakpoint regions of his RHD-CE(4-9)-D hybrid allele, which was likely distinct from the 2 previously published hybrid alleles due to the differences in the linked RHCE allele. His RHD variant was shown to express the C antigen. An SLC14A1 substitution was underlying his unexpected Jkb-negative phenotype. In a quality improvement project, we resolved 8 samples with similarly discrepant results between Jk serology and red cell genotyping.

背景:在 710 个 RHD 等位基因中,有 3 个等位基因表达 CcEe 抗原,在 67 个 RHD 基因杂交等位基因中,有 2 个等位基因进化到包含 RHCE 4-9 外显子。这种 RHD-CE(4-9)-D杂交等位基因的断裂点区域尚未被描述。在基德血型系统中,JK*02N.01 空等位基因在波利尼西亚人群中的流行率很高。我们调查了一名自称为太平洋岛民的人,他的 C 抗原和 Jkb 抗原的血清学和分子学结果都不一致。我们还评估了另外 8 个基德血型系统基因型与表型不一致的样本:结合已发表的分子方法和商业试剂盒分析 RHD、RHCE 和 SLC14A1 基因序列,并通过血凝试验确定血清学表型:结果:对该病例的RHD基因(包括相关的内含子段)和cDNA进行了核苷酸测序,发现了一个RHD-CE(4-9)-D杂合等位基因。他的 RHCE 基因的核苷酸测序证实,尽管表达 C 抗原,但仍存在 2 个 RHCE*ce 等位基因。他的 SLC14A1 基因测序结果显示存在 JK*02N.01 等位基因。在其他 8 个样本中,发现了 5 个以前已知的 SLC14A1 核苷酸置换。JK*02N.17等位基因被确定为Jkb阳性:我们确定了他的 RHD-CE(4-9)-D杂交等位基因的两个断裂点区域,由于相连的 RHCE 等位基因的差异,该等位基因可能与之前公布的两个杂交等位基因不同。他的 RHD 变体被证明能表达 C 抗原。SLC14A1置换是其意外的Jkb阴性表型的基础。在一个质量改进项目中,我们解决了 8 个样本的 Jk 血清学和红细胞基因分型结果存在类似差异的问题。
{"title":"Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.","authors":"Kshitij Srivastava, Marina U Bueno, Willy A Flegel","doi":"10.2450/BloodTransfus.534","DOIUrl":"10.2450/BloodTransfus.534","url":null,"abstract":"<p><strong>Background: </strong>Among 710 RHD alleles, 3 alleles have been shown to express CcEe antigens and, among 67 hybrid alleles of the RHD gene, 2 alleles have evolved to include RHCE exons 4-9. No breakpoint region had been described for such RHD-CE(4-9)-D hybrid alleles. In the Kidd blood group system, the JK*02N.01 null allele is found with high prevalence in the Polynesian population. We investigated a self-identified Pacific Islander with discrepant serologic and molecular results for his C and Jk<sup>b</sup> antigens. Another 8 samples with genotype-phenotype discrepancies in the Kidd blood group system were assessed.</p><p><strong>Materials and methods: </strong>A combination of published molecular methods and commercial kits were applied to analyze the RHD, RHCE, and SLC14A1 gene sequences, as were hemagglutination tests to determine the serologic phenotypes.</p><p><strong>Results: </strong>Nucleotide sequencing of the RHD gene in the index case, including relevant intron stretches, and cDNA identified an RHD-CE(4-9)-D hybrid allele. Nucleotide sequencing of his RHCE gene confirmed the presence of 2 RHCE*ce alleles despite expressing the C antigen. Sequencing of his SLC14A1 gene documented the JK*02N.01 null allele. In the other 8 samples, 5 previously known SLC14A1 nucleotide substitutions were identified. The JK*02N.17 allele was determined to be Jk<sup>b</sup>-positive.</p><p><strong>Discussion: </strong>We determined the 2 breakpoint regions of his RHD-CE(4-9)-D hybrid allele, which was likely distinct from the 2 previously published hybrid alleles due to the differences in the linked RHCE allele. His RHD variant was shown to express the C antigen. An SLC14A1 substitution was underlying his unexpected Jk<sup>b</sup>-negative phenotype. In a quality improvement project, we resolved 8 samples with similarly discrepant results between Jk serology and red cell genotyping.</p>","PeriodicalId":49260,"journal":{"name":"Blood Transfusion","volume":" ","pages":"189-197"},"PeriodicalIF":2.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10172155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Blood Transfusion
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