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Systemic and Craniospinal Rosai Dorfman Disease with Intraparenchymal, Intramedullary and Leptomeningeal Disease rossai Dorfman病合并脑实质内、髓内和脑膜内疾病的全身性和颅脊髓性疾病
Q3 Medicine Pub Date : 2021-10-01 DOI: 10.18502/ijhoscr.v15i4.7482
Yi Li, E. Sloan, A. Bollen, D. Solomon, P. Theodosopoulos, S. Cha
Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and sinonasal involvement. We report a rare case of systemic and disseminated craniospinal Rosai Dorfman disease with intraparenchymal and leptomeningeal involvement, but no sinus or dural-based disease. The diagnosis was established by biopsy of a hypothalamic mass. Additionally, UCSF500 Next Generation Sequencing demonstrated a solitary pathogenic alteration affecting the BRAF oncogene, which supports the morphologic and immunohistochemical diagnosis of Rosai-Dorfman disease.
Rosai Dorfman病是一种罕见的非朗格汉斯组织细胞过度产生的组织细胞疾病,典型表现为大量淋巴结病变和鼻窦受累。我们报告一例罕见的系统性和播散性颅脊髓Rosai Dorfman病伴实质内和脑膜轻脑膜受累,但无窦性或硬脑膜基础疾病。诊断是通过下丘脑肿块活检确定的。此外,UCSF500下一代测序显示了影响BRAF癌基因的单独致病改变,这支持了Rosai-Dorfman病的形态学和免疫组织化学诊断。
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引用次数: 1
Neuroblastoma Cell Death Induced by eEF1A2 Knockdown Is Possibly Mediated by the Inhibition of Akt and mTOR Phosphorylation eEF1A2敲低诱导神经母细胞瘤细胞死亡可能是通过抑制Akt和mTOR磷酸化介导的
Q3 Medicine Pub Date : 2021-10-01 DOI: 10.18502/ijhoscr.v15i4.7477
Kawinthra Khwanraj, P. Dharmasaroja
Background The protein kinase B/mammalian target of the rapamycin (Akt/mTOR) pathway is one of the most potent prosurvival signaling cascades that is constitutively active in neuroblastoma. The eukaryotic translation elongation factor-1, alpha-2 (eEF1A2) protein has been found to activate the Akt/mTOR pathway. However, there is a lack of data on the role of eEF1A2 in neuroblastoma. The present study investigated the effect of eEF1A2 silencing on the viability of neuroblastoma cells and its possible signaling. Materials and Methods: Human SH-SY5Y neuroblastoma cells were transfected with small interfering RNA (siRNA) against eEF1A2. After 48 h of transfection, cell viability was assessed using an MTT assay. The mRNA expression of p53, Bax, Bcl-2, caspase-3 and members of the phosphoinositide 3-kinases (PI3K)/Akt/mTOR pathway was determined using quantitative real-time RT-PCR (qRT-PCR). The protein expression of Akt and mTOR was measured using Western blot analysis. Results: eEF1A2 knockdown significantly decreased the viability of neuroblastoma cells. No significant changes were observed on the expression of p53, Bax/Bcl-2 ratio, and caspase-3 mRNAs; however, the upregulated trends were noted for the p53 and Bax/Bcl-2 ratio. eEF1A2 knockdown significantly inhibited the phosphorylation of both Akt and mTOR. Almost all of the class I (PIK3CA, PIK3CB, and PIK3CD) and all of the class II PI3K genes were slightly increased in tumor cells with eEF1A2 knockdown. In addition, a slightly decreased expression of the Akt2, mTORC1, and mTORC2 was observed. Conclusion: eEF1A2 knockdown induced neuroblastoma cell death, in part through the inhibition of Akt and mTOR, suggesting a potential role of eEF1A2 as a molecular target for neuroblastoma therapy.
雷帕霉素(Akt/mTOR)通路的蛋白激酶B/哺乳动物靶点是神经母细胞瘤中最有效的促生存信号级联反应之一。真核翻译延伸因子- 1,α -2 (eEF1A2)蛋白已被发现激活Akt/mTOR通路。然而,缺乏关于eEF1A2在神经母细胞瘤中的作用的数据。本研究探讨了eEF1A2沉默对神经母细胞瘤细胞活力的影响及其可能的信号传导机制。材料和方法:用小干扰RNA (siRNA)转染人SH-SY5Y神经母细胞瘤细胞,抑制eEF1A2。转染48 h后,采用MTT法评估细胞活力。采用实时荧光定量RT-PCR (qRT-PCR)检测p53、Bax、Bcl-2、caspase-3和PI3K /Akt/mTOR通路成员的mRNA表达。Western blot检测Akt和mTOR蛋白表达。结果:eEF1A2基因敲低显著降低神经母细胞瘤细胞活力。p53、Bax/Bcl-2比值、caspase-3 mrna表达无明显变化;然而,p53和Bax/Bcl-2比值的上调趋势被注意到。eEF1A2敲低显著抑制Akt和mTOR的磷酸化。几乎所有I类(PIK3CA、PIK3CB和PIK3CD)和所有II类PI3K基因在eEF1A2敲低的肿瘤细胞中都略有增加。此外,观察到Akt2、mTORC1和mTORC2的表达略有下降。结论:eEF1A2敲低诱导神经母细胞瘤细胞死亡,部分通过抑制Akt和mTOR,提示eEF1A2可能作为神经母细胞瘤治疗的分子靶点。
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引用次数: 1
RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran 伊朗东南部献血者rh阴性和弱D表型的RHD基因分型
Q3 Medicine Pub Date : 2021-10-01 DOI: 10.18502/ijhoscr.v15i4.7476
Younes Sadeghi-Bojd, N. Amirizadeh, A. Oodi
Background: The D antigen is a subset of Rh blood group antigens involved in the hemolytic disease of the newborn [HDFN] and hemolytic transfusion reaction [HTR]. The hybrid Rhesus box that was created after RH gene deletion, was known as a mechanism of the Rh-negative phenotype. Hybrid marker identification is used to confirm the deletion of the RHD gene and to determine zygosity. This study aims to detect this marker in Rh-negative and weak D phenotype blood donors of the southeast of Iran. Materials and Methods: The molecular analysis of the hybrid Rhesus box was performed on the 200 Rh-negative blood donors in Sistan and Baluchestan province, southeast Iran. The presence of alleles responsible for the D variants was assessed by DNA sequencing in 26 weak D phenotype donors. Results: Of the 200 Rh-negative blood samples, 198 samples were homozygous (99%), and two samples were heterozygous (1%). Heterozygous samples had RHD*01N.73 allele and the RHD*01N.18 allele. Of the 26 samples with weak D phenotype, 16 partial DLO (61%), 4 partial DBT1 (15.3%), 2 partial DV type 2 (7.7%), 1 weak D type 1, 1 weak D type 4.2.3, 1weak D type 105 and 1 RHD (S103P) (4%) were determined. Conclusion: Since RHD gene deletion is the main mechanism of the Rh-negativity in Sistan and Baluchestan provinces, a hybrid Rhesus box marker can be used in resolving RhD typing discrepancies by RHD genotyping methods.
背景:D抗原是Rh血型抗原的一个亚群,参与新生儿溶血性疾病[hddn]和溶血性输血反应[HTR]。RH基因缺失后产生的杂交恒河猴箱被认为是RH阴性表型的一种机制。杂交标记鉴定用于确认RHD基因的缺失和确定合子性。本研究旨在检测伊朗东南部rh阴性和弱D表型献血者的这一标记。材料与方法:对伊朗东南部锡斯坦和俾路支斯坦省200名rh阴性献血者进行杂交恒河猴盒分子分析。在26名弱D表型供体中,通过DNA测序评估了导致D变异的等位基因的存在。结果:200份rh阴性血样中纯合子198份(99%),杂合子2份(1%)。杂合样品RHD*01N。73等位基因和RHD*01N。18个等位基因。在26份弱D表型样本中,检测到部分DLO 16份(61%)、部分DBT1 4份(15.3%)、部分DV 2型2份(7.7%)、1份弱D 1型、1份弱D 4.2.3型、1份弱D 105型和1份RHD (S103P)(4%)。结论:由于RHD基因缺失是锡斯坦和俾路支斯坦省rh阴性的主要机制,RHD基因分型方法可以利用杂交恒河猴箱标记解决RHD分型差异。
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引用次数: 2
Hodgkin Variant of Richter’s Transformation in Chronic Lymphocytic Leukemia (CLL): An Illustrative Case Report and Literature Review 慢性淋巴细胞白血病(CLL)中Richter转化的霍奇金变异体:一例说白性病例报告及文献复习
Q3 Medicine Pub Date : 2021-10-01 DOI: 10.18502/ijhoscr.v15i4.7480
N. Gupta, Aditi Mittal, R. Duggal, T. Dadu, A. Agarwal, A. Handoo
Hodgkin lymphoma variant of Richter’s transformation (HL-RT) is a rare event, occurring in < 1% chronic lymphocytic leukemia (CLL) cases, of which, in < 10% cases, HL is the first finding leading to a diagnosis of CLL that co-exists simultaneously. Here we report a 60 years old male patient who presented with an outside diagnosis of lymphocyte-rich classical HL. On evaluation, he had only B-symptoms in the form of low-grade fever and weight loss. Peripheral smear revealed mild leukocytosis with an absolute lymphocytosis and a few smudge cells. Bone marrow (BM) aspirate and biopsy exhibited diffuse infiltration by a small cell, low grade, Non-Hodgkin’s lymphoma with no immunohistochemical evidence of HL. Flow cytometry performed on BM was consistent with classical immunoprofile of CLL. Meanwhile the lymph node received for review revealed diffuse effacement of nodal architecture by small mature lymphocytes with immunoprofile of CLL expressing CD20, CD5, and CD23. Interspersed between these cells, were a few eosinophils along with classical Reed Sternberg cells, expressing CD30, MUM-1, CD15, and dim PAX-5, with a surrounding rosette of T-Cells highlighted by CD3 and PD-1 and negative for CD45, CD20, and EBV immunohistochemistry. Fluorodeoxyglucose positron emission tomography (FDG-PET) scan revealed hepatosplenomegaly with multiple supra/infra diaphragmatic lymph nodes. So, a final diagnosis of HL-RT in CLL was considered. The patient is currently doing well after the first cycle of ABVD chemotherapy. HL-RT occurring in CLL is a rare event with heterogeneous clinical presentation, morphology, clonal origin, disease course, prognostic features, and survival.
霍奇金淋巴瘤变异型里希特氏转化(HL- rt)是一种罕见的事件,发生在< 1%的慢性淋巴细胞白血病(CLL)病例中,其中< 10%的病例中,HL是导致CLL同时存在的第一个发现。我们在此报告一位60岁男性病患,外在诊断为淋巴细胞丰富的经典HL。经评估,他只有b型症状,表现为低烧和体重减轻。外周涂片显示轻度白细胞增多,绝对淋巴细胞增多和少量污浊细胞。骨髓(BM)穿刺和活检显示小细胞、低级别非霍奇金淋巴瘤弥漫性浸润,无HL免疫组织化学证据。BM的流式细胞术与典型的CLL免疫图谱一致。同时,淋巴结复查显示淋巴结结构被表达CD20、CD5和CD23的CLL免疫谱的小成熟淋巴细胞弥漫性抹去。在这些细胞之间,散布着少量嗜酸性粒细胞和经典的Reed Sternberg细胞,表达CD30、um -1、CD15和暗淡的PAX-5,周围有CD3和PD-1突出的t细胞花环,CD45、CD20和EBV免疫组织化学阴性。氟脱氧葡萄糖正电子发射断层扫描(FDG-PET)显示肝脾肿大并伴有多个膈上/膈下淋巴结。因此,考虑最终诊断为HL-RT的CLL。患者目前在第一轮ABVD化疗后情况良好。在CLL中发生HL-RT是一种罕见的事件,具有异质的临床表现、形态、克隆起源、病程、预后特征和生存率。
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引用次数: 2
Prolonged Thrombin Time in Asymptomatic Patient with Hypo Dysfibrogememia Tucson 低纤维异常血症无症状患者凝血酶时间的延长
Q3 Medicine Pub Date : 2021-08-24 DOI: 10.14302/issn.2372-6601.jhor-21-3903
S. Katakkar
A 61 years female patient with known diagnosis of the breast cancer in remission for more than 10 years has Renaud’s disease. During her work up for lupus and lupus anticoagulant which both were negative a prolonged thrombin time was noted which was done by mistake. She has no history of bleeding or thrombosis and last recent surgery was 5 years ago for spinal stenosis and was uncomplicated. Her clinical examination is normal without evidence of any spontaneous bruises but colder hands. The thrombin time was greater than 125 seconds on two different occasions and correction of it by addition of normal plasma was down to 56 seconds and was thus incomplete. Her prothrombin time and PTT were normal and there was no evidence of FDP or D-Dimers. There was no evidence of circulating heparins. The fibrinogen level was normal. The para proteinmia was excluded by normal serum protein electrophoresis and by immunofixation . Thus it is felt that this patient has dysfibrinogenemia or hypo dysfibrinogenemia without bleeding or thrombotic complication. The literature review shows approximately 55% of dysfibrinogenemia patients do not have bleeding or thrombotic complications.
一名61岁的女性患者,已知诊断为乳腺癌,缓解超过10年,患有雷诺氏病。在她对狼疮和狼疮抗凝血剂的检查中,都是阴性的,凝血酶时间延长了,这是错误的。患者无出血或血栓形成史,最近一次手术是5年前因椎管狭窄,无并发症。临床检查正常,无自发性瘀伤,但手较冷。凝血酶时间在两个不同的场合大于125秒,通过添加正常血浆来校正凝血酶时间降至56秒,因此是不完整的。凝血酶原时间和PTT正常,无FDP或d -二聚体。没有肝素循环的迹象。纤维蛋白原水平正常。正常血清蛋白电泳及免疫固定均可排除para蛋白血症。因此,我们认为该患者有异常纤维蛋白原血症或低异常纤维蛋白原血症,但无出血或血栓并发症。文献综述显示,大约55%的纤维蛋白异常血症患者没有出血或血栓并发症。
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引用次数: 0
Determination of Tumor Size and Hounsfield Unit/Electron Density Values in Three Different CT Scans for Lung SBRT Planning 三种不同CT扫描对肺SBRT规划的肿瘤大小和Hounsfield单位/电子密度值的测定
Q3 Medicine Pub Date : 2021-07-31 DOI: 10.4999/uhod.214054
A. Okumus
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引用次数: 0
Survival Outcomes of Patients in Advanced Non-Clear Renal Cell Carcinoma Treated with Pazopanib: A Retrospective Single Institution Experience 帕唑帕尼治疗晚期非透明肾细胞癌患者的生存结局:回顾性单机构经验
Q3 Medicine Pub Date : 2021-07-31 DOI: 10.4999/uhod.215146
O. Aktepe
{"title":"Survival Outcomes of Patients in Advanced Non-Clear Renal Cell Carcinoma Treated with Pazopanib: A Retrospective Single Institution Experience","authors":"O. Aktepe","doi":"10.4999/uhod.215146","DOIUrl":"https://doi.org/10.4999/uhod.215146","url":null,"abstract":"","PeriodicalId":38991,"journal":{"name":"International Journal of Hematology-Oncology and Stem Cell Research","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89073692","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
Anxiety, Insomnia and Pandemic Awareness of Cancer Patients Receiving Chemotherapy During the COVID-19 Pandemic Period 2019冠状病毒病疫情期间癌症化疗患者的焦虑、失眠与流行意识
Q3 Medicine Pub Date : 2021-07-31 DOI: 10.4999/uhod.214677
S. Esen
The emergence of COVID-19 pandemic caused a global public health problem. In this article, anxiety and insomnia rates of cancer patients who received chemotherapy during COVID-19 outbreak period were determined. In addition, patients' information and opinions about COVID-19 were discussed. The study included 218 cancer patients who apply to outpatient chemotherapy clinic between May-June 2020, aged 18 and over, who were receiving chemotherapy. Generalized Anxiety Disorder and Insomnia Severity Index questionnaire forms were given to fill the patients to evaluate their anxiety and insomnia levels. We also prepared 12 additional questions about the knowledge and perceptions of COVID-19. Seventy eight (35.8%) patients had anxiety and 106 (48.6%) had insomnia. The rate of whole patients with severe anxiety was 1.8% and with severe insomnia was 2.8%. There was a statistically significant relationship between tumor localization and anxiety (p=0.006). Anxiety scores also increased with the increase in insomnia scores (p< 0.001). Eighty three percent of our patients wore face masks in any environment where they were in contact with people, and 84.9% believed in the protection of the face mask. To the authors'knowledge, this is the first study to examine the anxiety and insomnia rates of the cancer patients receiving chemotherapy in COVID-19 pandemic. The uncertainty of the COVID-19 pandemic process can further increase anxiety and insomnia rates. Patients should be evaluated psychosocially both in the pandemic process and after. Correcting these misperception should be targe-ted in information campaigns, information by clinicians to their patients, and media coverage.
COVID-19大流行的出现造成了全球性的公共卫生问题。本文测定了2019冠状病毒病疫情期间接受化疗的癌症患者的焦虑和失眠率。此外,还讨论了患者对COVID-19的信息和意见。该研究包括218名在2020年5月至6月期间申请门诊化疗诊所的癌症患者,年龄在18岁及以上,正在接受化疗。采用广泛性焦虑障碍和失眠严重程度指数问卷调查表,对患者的焦虑和失眠水平进行评估。我们还准备了12个关于COVID-19知识和认知的附加问题。78例(35.8%)患者有焦虑,106例(48.6%)患者有失眠。重度焦虑患者占1.8%,重度失眠患者占2.8%。肿瘤定位与焦虑的关系有统计学意义(p=0.006)。焦虑评分也随着失眠评分的增加而增加(p< 0.001)。83%的患者在与人接触的任何环境中都戴口罩,84.9%的患者相信口罩的保护作用。据作者所知,这是第一个研究COVID-19大流行期间接受化疗的癌症患者的焦虑和失眠率的研究。COVID-19大流行过程的不确定性可能进一步增加焦虑和失眠率。应在大流行过程中和大流行后对患者进行心理社会评估。纠正这些误解应在宣传活动、临床医生向患者提供的信息和媒体报道中有针对性。
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引用次数: 5
Clinical Course of Covid-19 in Hematological Disorders Covid-19在血液系统疾病中的临床病程
Q3 Medicine Pub Date : 2021-07-31 DOI: 10.4999/uhod.215014
M. H. Atay, M. Okuyucu, Y. T. Gullu, N. T. Tuna, H. Bilek, E. Tanyel, O. Terzi, M. Turgut
Hematology patients are extremely vulnerable to COVID-19 infection due to the immunosuppression arising from the direct effect of the disease and the medicines administered. Our purpose is to analyze the results of the patients that both have a hematological disease and receive treatment for COVID-19 infection in our hospital. Four hundred COVID-19 positive patients that received inpatient treatment between March 12, 2020 and October 1, 2020 in our center and got a diagnosis by using real -time polymerase chain reaction (RT-PCR) test were scanned retrospectively. Eighty one patients were included in the study. Nineteen patients had a hematological disease;62 had a chronic disease but didn't have a hematological disease. We found that the group with hematological disease had a high level of ferritin (p= 0.0001). While the use of steroids in COVID-19 treatments is more frequent in the group with hematological disease (p= 0.01), the use of LMWH (low molecular weight heparin) is more frequent in the group with no hematological diseases (p= 0.02). Intensive care treatment and mechanical ventilatory support were required more for the patients with hematological disease than the others (p= 0.03. p= 0.008). While the mortality rate is 42.1% in the patients with hematological disease, it is 9.7% in the patients with chronic disease (p= 0.003). In cox regression analysis, the study found that hematological diseases (HR: 4.02, 95% CI: 1.7-1844.5, p= 0.02), cardiac diseases (HR: 2.28, 95% CI: 1.2-77.9, p= 0.03), and intensive care treatment (HR: 4.60, 95% CI: 3.1-3115.0, p= 0.009) are significant risk factors. Hematological patients infected with COVID-19 have a more severe and mortal clinical manifestation than the patients with other chronical disease.
血液学患者极易受到COVID-19感染,因为疾病的直接影响和所使用的药物会产生免疫抑制。我们的目的是分析我院同时患有血液病并接受COVID-19感染治疗的患者的结果。对2020年3月12日至2020年10月1日在我中心住院治疗并经实时聚合酶链反应(RT-PCR)检测确诊的400例COVID-19阳性患者进行回顾性扫描。81名患者参与了这项研究。19名患者患有血液病,62名患者患有慢性疾病,但没有血液病。我们发现血液病组铁蛋白水平较高(p= 0.0001)。在COVID-19治疗中,类固醇在血液病组的使用更为频繁(p= 0.01),而低分子肝素(低分子肝素)在无血液病组的使用更为频繁(p= 0.02)。血液病患者对重症监护和机械呼吸支持的需求高于其他疾病患者(p= 0.03)。p = 0.008)。血液病患者的死亡率为42.1%,而慢性病患者的死亡率为9.7% (p= 0.003)。在cox回归分析中,研究发现血液病(HR: 4.02, 95% CI: 1.7 ~ 1844.5, p= 0.02)、心脏病(HR: 2.28, 95% CI: 1.2 ~ 77.9, p= 0.03)和重症监护治疗(HR: 4.60, 95% CI: 3.1 ~ 3115.0, p= 0.009)是显著的危险因素。血液病患者感染COVID-19的临床表现比其他慢性疾病患者更为严重和致命。
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引用次数: 1
Neoadjuvant Radiotherapy in Rectal Cancer: A Single Center Experience 直肠癌新辅助放疗:单中心经验
Q3 Medicine Pub Date : 2021-07-31 DOI: 10.4999/uhod.214936
B. Tilki
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引用次数: 0
期刊
International Journal of Hematology-Oncology and Stem Cell Research
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