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Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab 旁遮普省一家三级教学医院的产前地中海贫血筛查和产前诊断经验
IF 0.9 4区 医学 Pub Date : 2024-05-08 DOI: 10.1007/s12288-024-01785-z
Ranjeet Singh Mashon, Kavita Mandrelle, Naveen Kakkar

Prevention of birth of thalassemia major children by identification of risk couples and prenatal diagnosis has been recommended as a realistic and cost effective method for control of thalassemia. We present our experience of antenatal thalassemia screening and prenatal diagnosis (PND) in a tertiary care teaching hospital. All antenatal women presenting to the antenatal clinic over 6 years were counseled for beta thalassemia screening. If the lady was detected heterozygous for thalassemia/hemoglobinopathy, partner screening was advised. If the husband was also detected to be heterozygous, the risk couple was offered prenatal diagnosis by chorionic villus tissue DNA analysis. A total of 5392 antenatal women were counseled for beta thalassemia screening, with compliance in 4376 (81.1%) cases. Beta Thalassemia heterozygosity was detected in 147(3.4%) cases, borderline HbA2 in 75(1.7%) and other hemoglobin variants in 91(2.1%). Partner screening was advised in 313 (7.1%) affected antenatal women, with non-compliance in 33.8% cases. Of 27 risk couples identified, prenatal diagnosis was done in 19 couples, detecting 3 affected fetuses. In 8 couples, PND could not be done because of late gestation, financial constraints, lost follow up, failed CVS tissue aspiration and miscarriage prior to CVS tissue biopsy. Late presentation to the antenatal clinic, non-compliance to screening advice and financial constraints could be the factors impeding the thalassemia control program. This emphasizes on the need for community level awareness and inclusion of Thalassemia screening and prenatal diagnosis in the healthcare system.

通过识别高危夫妇和产前诊断来预防重型地中海贫血症患儿的出生,已被推荐为控制地中海贫血症的一种切实可行且具有成本效益的方法。我们介绍了一家三级教学医院在产前地中海贫血筛查和产前诊断(PND)方面的经验。所有前来产前门诊就诊的 6 岁以上产妇都接受了地中海贫血筛查咨询。如果产妇被检测出是地中海贫血/血红蛋白病的杂合子,则建议其伴侣接受筛查。如果丈夫也被检测出是杂合子,则为这对高风险夫妇提供绒毛组织 DNA 分析产前诊断。共有 5392 名产前妇女接受了β地中海贫血筛查咨询,其中 4376 人(81.1%)接受了筛查。其中有 147 例(3.4%)检测出β地中海贫血杂合子,75 例(1.7%)检测出边缘 HbA2,91 例(2.1%)检测出其他血红蛋白变异。有 313 名(7.1%)受影响的产前妇女被建议进行伴侣筛查,33.8% 的病例未按要求进行筛查。在发现的 27 对高风险夫妇中,有 19 对进行了产前诊断,发现了 3 个受影响的胎儿。在 8 对夫妇中,由于妊娠晚期、经济拮据、失去随访、CVS 组织抽吸失败和 CVS 组织活检前流产等原因,无法进行产前诊断。产前检查过晚、不遵守筛查建议和经济拮据可能是阻碍地中海贫血控制计划的因素。这强调了在社区层面提高对地中海贫血筛查和产前诊断的认识并将其纳入医疗保健系统的必要性。
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引用次数: 0
Correlation of Pulmonary Arterial Hypertension with Laboratory Parameters in Sickle Cell Disease- A Retrospective Study 镰状细胞病肺动脉高压与实验室参数的相关性--一项回顾性研究
IF 0.9 4区 医学 Pub Date : 2024-05-08 DOI: 10.1007/s12288-024-01772-4
Anindita Paul, Priyanka Samal, Kumar Gaurav Behera, Pritish Chandra Patra, Ashutosh Samal, Ajit Kumar Bishoyi, Sarita Pradhan

To study the prevalence of pulmonary arterial hypertension (PAH) in individuals with sickle cell disease (SCD) and its relationship with serological markers. Data of ninety-two SCD patients who visited the Department of Clinical Haematology between 2020 and 2021 was retrieved through the hospital record system. These patients underwent laboratory testing, including a clinical evaluation was done at baseline. They underwent Doppler echocardiography to determine the maximum tricuspid regurgitation jet velocity. Among 92 patients, 43 were men and 49 were female, with the mean age being 29.9 ± 8.8 years. Using Doppler echocardiography, their pulmonary artery systolic pressure was determined. Pulmonary arterial hypertension was found in 29 out of 92 patients (31.5%). The prevalence of PAH was 20.9% in males and 40.8% in women. A significant association was shown with females (p = 0.041.) There was a positive correlation with hemolytic markers, including reticulocyte count (r = 0.212, p < 0.05), lactate dehydrogenase (r = 0.322, p < 0.01 with tricuspid regurgitation velocity (TRvmax) (r = 0.322, p < 0.01) along with NT-ProBNP (r = 0.310, p < 0.01). The maximal tricuspid regurgitation velocity and haemoglobin concentration had a negative correlation. (r = -0.340, p < 0.01). In resource-limited settings, NT Pro BNP and transthoracic echocardiography can be used as screening tools for pulmonary hypertension in SCD.

研究镰状细胞病(SCD)患者肺动脉高压(PAH)的发病率及其与血清学标志物的关系。通过医院记录系统检索了在 2020 年至 2021 年期间就诊于临床血液学部的 92 名 SCD 患者的数据。这些患者接受了实验室检测,包括基线临床评估。他们接受了多普勒超声心动图检查,以确定三尖瓣反流的最大射流速度。92 名患者中,男性 43 人,女性 49 人,平均年龄(29.9±8.8)岁。使用多普勒超声心动图测定了他们的肺动脉收缩压。92 名患者中有 29 人(31.5%)患有肺动脉高压。男性 PAH 患病率为 20.9%,女性为 40.8%。与溶血标志物呈正相关,包括网织红细胞计数(r = 0.212,p < 0.05)、乳酸脱氢酶(r = 0.322,p < 0.01)、三尖瓣反流速度(TRvmax)(r = 0.322,p < 0.01)以及 NT-ProBNP (r = 0.310,p < 0.01)。最大三尖瓣反流速度与血红蛋白浓度呈负相关。(r = -0.340, p <0.01)。在资源有限的情况下,NT Pro BNP 和经胸超声心动图可用作 SCD 肺动脉高压的筛查工具。
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引用次数: 0
Serum lncRNA RAMP2-AS1 Served as a Biomarker of Deep Vein Thrombosis Occurrence and Development in Elderly 血清lncRNA RAMP2-AS1是老年人深静脉血栓发生和发展的生物标志物
IF 0.9 4区 医学 Pub Date : 2024-05-06 DOI: 10.1007/s12288-024-01782-2
Hailong Zhang, Qichen Feng, Qingfeng Ma, Li Li, Youzhong Xing

The incidence of deep vein thrombosis (DVT) is increasing with aging, which needs a screening and monitoring biomarker. This study focused on the significance of aging- and angiogenesis-related lncRNA RAMP2-AS1 (RAMP2-AS1) aiming to identify a promising biomarker for the incidence of DVT. Serum samples were collected from 63 healthy individuals and 98 patients with DVT. The serum RAMP2-AS1 level was analyzed by PCR and its significance in DVT detection and development prediction was evaluated by ROC and multivariate Cox regression analysis. The regulatory effect of RAMP2-AS1 on endothelial progenitor cells (EPCs) was evaluated by CCK8 and transwell assays. RAMP2-AS1 was significantly downregulated in patients with DVT, which could discriminate patients with DVT from healthy individuals with relatively high sensitivity and specificity. The downregulation of RAMP2-AS1 could predict poor outcomes and was associated with activities of daily living (ADL), neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), lymphocyte to monocyte ratio (LMR), and monocyte to high-density lipoprotein cholesterol ratio (MHR) of patients with DVT. RAMP2-AS1 was identified as an independent prognostic factor of DVT by Cox regression analysis. In EPCs, overexpressing RAMP2-AS1 significantly suppressed cell proliferation, migration, and invasion. Downregulated serum RAMP2-AS1 could predict the incidence and progression of DVT. RAMP2-AS1 inhibited EPCs growth and motility, which provides a target for thrombolytic therapy. RAMP2-AS1 level could be included in the risk assessment model of DVT.

随着年龄的增长,深静脉血栓(DVT)的发病率也在增加,这就需要一种筛选和监测生物标志物。本研究重点研究了与衰老和血管生成相关的lncRNA RAMP2-AS1(RAMP2-AS1)的意义,旨在为深静脉血栓的发病率找出一个有前景的生物标志物。研究人员采集了 63 名健康人和 98 名深静脉血栓患者的血清样本。通过 PCR 分析血清 RAMP2-AS1 水平,并通过 ROC 和多变量 Cox 回归分析评估其在深静脉血栓检测和发展预测中的意义。RAMP2-AS1对内皮祖细胞(EPCs)的调控作用通过CCK8和透孔试验进行了评估。RAMP2-AS1在深静脉血栓患者中明显下调,它能以相对较高的灵敏度和特异性区分深静脉血栓患者和健康人。RAMP2-AS1的下调可预测不良预后,并与深静脉血栓患者的日常生活能力(ADL)、中性粒细胞与淋巴细胞比值(NLR)、血小板与淋巴细胞比值(PLR)、淋巴细胞与单核细胞比值(LMR)和单核细胞与高密度脂蛋白胆固醇比值(MHR)相关。通过 Cox 回归分析,RAMP2-AS1 被确定为深静脉血栓的独立预后因素。在EPCs中,过表达RAMP2-AS1能显著抑制细胞增殖、迁移和侵袭。血清中下调的RAMP2-AS1可预测深静脉血栓的发生和进展。RAMP2-AS1抑制了EPCs的生长和运动,为溶栓治疗提供了靶点。RAMP2-AS1水平可纳入深静脉血栓的风险评估模型。
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引用次数: 0
Lymphoid Proliferations and Lymphoma Associated with Immune Deficiency, and Dysregulation in a Patient Treated with Cyclosporine Monotherapy for Psoriasis 一名接受环孢素单药治疗的银屑病患者淋巴细胞增生和淋巴瘤与免疫缺陷和失调有关
IF 0.9 4区 医学 Pub Date : 2024-05-01 DOI: 10.1007/s12288-024-01781-3
Toshiyuki Nakanishi, Satoshi Noto, Yusuke Nakamichi, Mori Nakai, Naoki Takezako
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引用次数: 0
The Comparative Effect of Plasma Exosomes of Young and Old People on the Expression of BCL-2 and BAX Genes in Hematopoietic Stem Cells 年轻人和老年人血浆外泌体对造血干细胞中 BCL-2 和 BAX 基因表达的影响比较
IF 0.9 4区 医学 Pub Date : 2024-05-01 DOI: 10.1007/s12288-024-01779-x
Roya Moradi, Reza Afrisham, Zahra Kashanikhatib, Seyed Hadi Mousavi, Masoud Soleimani, Shaban Alizadeh

Apoptosis may disrupt differentiation of hematopoietic stem cells (HSCs), which can affect aging. Thus, the main goal of this study was to compare the effect of plasma exosomes from young and old people on the expression of Bcl-2-associated X (BAX) and B-cell lymphoma 2 (BCL-2) genes in the HSCs. Plasma samples were acquired from four elderly adults and four younger adults, referring to Blood Transfusion Organization of Tehran-Iran during August 2022– September 2022.Then, the exosomes of the samples were extracted and analyzed using DLS, TEM, and CD63 surface marker. HSCs were isolated from umbilical cord blood cells. The MTT test was used to assess the viability of exosomes-treated HSCs at doses of 5 and 10 μg/ml. The expression of BAX and BCL-2 genes in the cells was examined using real-time PCR. A one-way analysis of variance (ANOVA) was performed to examine the distinctions among five groups. The viability of HSCs was not affected by the exosomes from young and old people than the control group (P = 0.453). Exosomes from young people (doses 5 and 10 µg/ml) did not have any significant impacts on BAX (P = 0.746, and P = 0.345, respectively) and BCL-2 (P = 0.773, and P = 0.461, respectively) expression in the HSCs compared to the control group. The BAX gene was significantly upregulated and the BCL-2 gene was significantly downregulated after utilizing the exosomes derived from the plasma of elderly individuals (dose 10 µg/ml) compared to the control (P = 0.001, P = 0.002, respectively). The current research shows that aged people's exosomes can increase BAX/ BCL-2 ratio in umbilical cord blood-derived HSCs compared to control and young groups.

细胞凋亡可能会破坏造血干细胞(HSCs)的分化,从而影响衰老。因此,本研究的主要目的是比较年轻人和老年人的血浆外泌体对造血干细胞中Bcl-2相关X(BAX)和B细胞淋巴瘤2(BCL-2)基因表达的影响。研究人员于2022年8月至2022年9月期间从伊朗德黑兰输血组织获取了4名老年人和4名年轻人的血浆样本,然后提取样本中的外泌体,并使用DLS、TEM和CD63表面标记物进行分析。从脐带血细胞中分离出造血干细胞。MTT试验用于评估外泌体处理的造血干细胞的活力,剂量分别为5和10微克/毫升。使用实时 PCR 检测细胞中 BAX 和 BCL-2 基因的表达。进行单因素方差分析(ANOVA)以检验五组间的差异。与对照组相比,来自年轻人和老年人的外泌体对造血干细胞的活力没有影响(P = 0.453)。与对照组相比,年轻人的外泌体(剂量分别为5和10 µg/ml)对造血干细胞中BAX(P = 0.746,P = 0.345)和BCL-2(P = 0.773,P = 0.461)的表达没有显著影响。与对照组相比,利用从老年人血浆中提取的外泌体(剂量为10微克/毫升)后,BAX基因明显上调,BCL-2基因明显下调(分别为P = 0.001和P = 0.002)。目前的研究表明,与对照组和年轻组相比,老年人的外泌体能提高脐带血造血干细胞中的BAX/ BCL-2比率。
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引用次数: 0
Temporomandibular Joint and Dental Complications in Long-Term Survivors of Children with Leukemia after Chemoradiotherapy and Stem Cell Transplantation 化疗和干细胞移植后长期存活的白血病患儿的颞下颌关节和牙齿并发症
IF 0.9 4区 医学 Pub Date : 2024-04-29 DOI: 10.1007/s12288-024-01786-y
Öykü Öztürk Gündoğdu, Dilek Aynur Cankal, Zühre Kaya, Zühre Akarslan, Serap Kirkiz, Ülker Koçak

The purpose of this study was to investigate the long-term effects of chemoradiotherapy and transplantation on the temporomandibular joint (TMJ) and dental status in leukemia and stem cell transplantation (SCT) patients. The study included 44 patients and 22 controls. Participants were categorized into three groups: patients with leukemia in Group-1 (n = 22), patients with SCT in Group-2 (n = 22), and controls in Group-3 (n = 22). All patients were evaluated using the Diagnostic Criteria for TMJ Disorders (TMD), as well as clinical and radiographic assessments. TMD was found in 19 (86%) of the 22 patients in Group-1, 12 (54%) of the 22 patients in Group-2, and 4 (18%) of the 22 controls. The brushing habit was significantly lower in Group-2 than in other Groups (p < 0.05). Group-3 had significantly higher mean values for painless, maximum assisted, and unassisted mouth opening than the other Groups (p < 0.05). The rate of click and crepitation sounds was significantly higher in Group-1 and Group-2 than in Group-3 (p < 0.05). The rate of nondental pain was significantly higher in Group-1 than in other Groups (p < 0.05). The rate of disc displacement with a reduction in both TMJ was significantly higher in Group-1 than in Group-3 (p < 0.05). Radiological studies revealed flattening in at least one condyle in 9 (20%) of both Group-1 and Group-2 patients. Flattening of both condyles and thinning of the mandibular cortex due to osteoporosis were found in 2 (9%) of Group-2. Our data suggest that screening for TMD after chemoradiotherapy and SCT may be beneficial for pediatric leukemia.

本研究旨在调查化放疗和移植对白血病和干细胞移植(SCT)患者的颞下颌关节(TMJ)和牙齿状况的长期影响。研究包括 44 名患者和 22 名对照组。参与者分为三组:白血病患者为第一组(22 人),干细胞移植患者为第二组(22 人),对照组为第三组(22 人)。所有患者均接受了颞下颌关节紊乱症(TMD)诊断标准以及临床和放射学评估。第一组的 22 名患者中有 19 人(86%)、第二组的 22 名患者中有 12 人(54%)、对照组的 22 人中有 4 人(18%)被发现患有 TMD。第 2 组患者的刷牙习惯明显低于其他组别(p < 0.05)。第 3 组患者的无痛张口、最大辅助张口和无辅助张口的平均值明显高于其他组(p < 0.05)。第 1 组和第 2 组的咔嗒声和咯吱声发生率明显高于第 3 组(p < 0.05)。第 1 组的非牙痛率明显高于其他组(p < 0.05)。第 1 组颞下颌关节盘移位并缩小的比例明显高于第 3 组(p < 0.05)。放射学研究显示,在第一组和第二组患者中,有 9 人(20%)至少有一个髁突变平。第 2 组有 2 人(9%)因骨质疏松症导致双侧髁突变平,下颌骨皮质变薄。我们的数据表明,在化疗和 SCT 后进行 TMD 筛查可能对儿童白血病患者有益。
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引用次数: 0
In-vitro Dilution of Human Plasma to Reduce ABO Antibody Titer Levels While Preserving Coagulation Factors 体外稀释人血浆以降低 ABO 抗体滴度水平,同时保留凝血因子
IF 0.9 4区 医学 Pub Date : 2024-04-27 DOI: 10.1007/s12288-024-01784-0
Seema Kumari Meena, Gopal Kumar Patidar, R. Lakshmy, Rahul Chaurasia, Anjali Hazarika

Abstract

The objective of this study was to prepare universal plasma by mixing Group A and Group B plasma with normal saline in varying proportions. This prospective in vitro study involved mixing blood group A and B plasma in ratios of 1:1, 3:1, 1:3, and with normal saline in ratios of 1:1:1, 2:2:1, and 1:1:2. The titration of IgG and IgM levels of anti-A and anti-B antibodies, as well as fibrinogen and factor VIII levels, were performed. The titers of anti-A and anti-B antibodies of both IgG and IgM types were found to have significantly decreased in all ratios compared to the control sample. Coagulation factors were found to be higher than the allowable limit when simple plasma mixing ratios (1:1, 3:1, and 1:3) were used, while they significantly decreased upon dilution with normal saline in 1:1:1 and 1:1:2 ratios. In conclusion, the mixing of A and B blood group plasma at a fixed ratio may be a promising strategy for the preparation of universal plasma with a low titre of haemolytic antibodies, while maintaining an adequate amount of coagulation factors.

摘要 本研究的目的是通过将 A 组血浆和 B 组血浆与生理盐水按不同比例混合来制备通用血浆。这项前瞻性体外研究将 A 组和 B 组血浆按 1:1、3:1、1:3 的比例混合,并与正常生理盐水按 1:1:1、2:2:1 和 1:1:2 的比例混合。对抗 A 和抗 B 抗体的 IgG 和 IgM 水平以及纤维蛋白原和因子 VIII 水平进行滴定。结果发现,与对照样本相比,IgG 和 IgM 型抗 A 和抗 B 抗体的滴度在所有比例下都明显下降。在使用简单的血浆混合比例(1:1、3:1 和 1:3)时,凝血因子高于允许限度,而在使用正常生理盐水稀释 1:1:1 和 1:1:2 比例时,凝血因子则明显降低。总之,以固定比例混合 A 和 B 血型血浆可能是制备溶血抗体滴度较低的通用血浆的一种有前途的策略,同时还能保持足够数量的凝血因子。
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引用次数: 0
Acute Appendicitis at Presentation in Acute Promyelocytic Leukaemia- An Exceptional Dilemma 急性早幼粒细胞白血病发病时的急性阑尾炎--一个特殊的难题
IF 0.9 4区 医学 Pub Date : 2024-04-26 DOI: 10.1007/s12288-024-01783-1
Sreedhar Jayakrishnan Cherulil, Sudeep Vaniyath, Abishek Rajan
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引用次数: 0
Successful Stem Cell Transplantation from Varicella Infected Donor 水痘感染捐献者的干细胞移植手术获得成功
IF 0.9 4区 医学 Pub Date : 2024-04-25 DOI: 10.1007/s12288-024-01738-6
Prerna Pramanik, Moupali Ghosh, S. Mitra, Bhaswati Bandopadhyay, Maitreyee Bhattacharyya
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引用次数: 0
Naturally Occurring Anti-D in a Male Blood Donor, Unresolved Mystery 一名男性献血者体内自然存在的抗-D,未解之谜
IF 0.9 4区 医学 Pub Date : 2024-04-25 DOI: 10.1007/s12288-024-01771-5
R. Basnotra, J. Philip, R. S. Mallhi, Abhipsa Shrotriya
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引用次数: 0
期刊
Indian Journal of Hematology and Blood Transfusion
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