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An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome 侵袭性局部眼眶横纹肌肉瘤和李氏综合征
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.11
Berrin Erok, K. Kıbıcı
Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.
介绍。横纹肌肉瘤(RMS)是最常见的儿童软组织肉瘤,10%的病例发生在眼眶。患者通常表现为快速发展的突出和眼球移位。的目标。我们的目标是呈现一个非常罕见的眼眶RMS,一个巨大的外生眼眶肿块,一个非常罕见的出现在更晚期的病例。案件描述。一名三岁女童因溃疡样组织肿大而来我院就诊。15个月大时被诊断为胚胎性横纹肌肉瘤(RMS)并接受放化疗。磁共振成像(MRI)显示一个巨大的非均匀增强肿块填充右眼眶并延伸至颅内区域。李·弗劳梅尼综合征(LFS)被认为是由于她的妹妹在幼年时死于神经母细胞瘤。细胞遗传学分析显示p53基因突变,支持我们的考虑。结论。RMS是一种偶发的高度恶性肿瘤。然而,一些罕见的综合征与RMS的发病率增加有关,如LFS。
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引用次数: 0
Urolithiasis due to renal dystopia and vascular anomalies 尿石症是由肾异常和血管异常引起的
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.13
A. Pliszka, M. Klos, Klaudia Możdżeń, Krzysztof Balawender
Introduction. Variations in the urogenital vascular anomalies in the abdomen are common. However, they warrant attention due to their importance in operative, diagnostic, and endovascular procedures. Aim. The aim of this article is to show an example of a patient with rare kidney and vessels anomalies. We want to prove that those anomalies contributed to development of urolithiasis in this case. Description of the case. During dissection of abdomen in a female cadaver, unique vascular anomalies and a position disorder of both kidneys were observed. Conclusion. Vessel abnormalities were congenital and appeared simultaneously with renal dystopia. Both anomalies could contribute to stone formation and nephritis. Understanding of the urogenital anatomical variations and their relations to adjacent structures is significant during surgical and radiological procedures.
介绍。腹部泌尿生殖血管异常的变异是常见的。然而,由于它们在手术、诊断和血管内手术中的重要性,它们值得注意。的目标。这篇文章的目的是展示一个罕见的肾脏和血管异常的病人的例子。我们想要证明这些异常导致了本例尿石症的发展。案件描述。在一具女性尸体的腹部解剖过程中,发现了独特的血管异常和双肾位置紊乱。结论。血管异常是先天性的,与肾异位同时出现。这两种异常都可能导致结石形成和肾炎。了解泌尿生殖解剖变异及其与邻近结构的关系在外科和放射治疗过程中具有重要意义。
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引用次数: 0
Mixed adenocarcinoma-neuroendocrine cancer – a case report 混合性腺癌-神经内分泌癌1例
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2020.4.13
Joanna Gustalik, D. Aebisher, E. Kaznowska, D. Bartusik-Aebisher
Introduction. Mixed adenocarcinoma-neuroendocrine cancer (MANEC) is a rare cancer that is characterized by aggressive course and poor prognosis. Aim. A case report and literature review. Description of the case. This article presents the case of a 63-year-old patient who was hospitalized due to the occurrence of neurological symptoms such as nausea, dizziness and headache as well as double vision and numbness of the hands. Suspected ischemic stroke, meningitis with bacterial etiology or brainstem pathology. Conclusion. MANEC composed of large neuroendocrine cells have better survival and clinical behavior than patients with small, intermediate or mixed large and intermediate cells.
介绍。摘要混合腺癌-神经内分泌癌(MANEC)是一种罕见的恶性肿瘤,其特点是病程严重,预后差。的目标。病例报告及文献复习。案件描述。本文报告一例63岁患者因出现恶心、头晕、头痛、复视及手部麻木等神经系统症状而住院。疑似缺血性中风、细菌性脑膜炎或脑干病变。结论。由大型神经内分泌细胞组成的MANEC患者的生存率和临床行为优于小型、中型或大型和中型混合细胞的患者。
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引用次数: 0
Fibromatosis-like spindle-cell metaplastic carcinoma of the breast – a case report 乳腺纤维瘤样梭状细胞化生癌1例报告
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.15
M. Osuchowski, D. Bartusik-Aebisher, E. Kaznowska, D. Aebisher
Introduction. Metaplastic breast carcinoma is expressing epithelial and/or mesenchymal tissue within the same tumor. Aim. The aim of this study is to evaluate metaplastic breast carcinoma in a case report and literature review. Description of the case. The presented case desribes metaplastic carcinoma of the breast in 65 years old female patient. Conclusion. Fibromatosis-cell metaplastic carcinoma of the breast presents a particularly large diagnostic challenge. Malignant variants of this disease have been described in the literature.
介绍。化生性乳腺癌在同一肿瘤内表达上皮和/或间质组织。的目标。本研究的目的是通过一个病例报告和文献回顾来评估乳腺癌的化生性。案件描述。本病例描述了一位65岁女性患者的乳腺化生癌。结论。纤维瘤病-乳腺细胞化生癌的诊断提出了一个特别大的挑战。这种疾病的恶性变异已在文献中描述。
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引用次数: 0
Numerous gastrointestinal tumors 大量胃肠道肿瘤
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2020.4.11
Piotr Przyczyna, Elżbieta Trojnar, D. Bartusik-Aebisher, D. Aebisher
Introduction. Gastrointestinal stromal tumor (GIST) is most often locate in the region of the stomach and the proximal part of the small intestine. Aim. The multiple histopathological examination is described. Description of the case. Multiple GISTs are rare neoplasms that originate from the interstitial cells are described. Conclussion. GIST can occur in any part of the gut, they are most common in the stomach and small intestine, and less frequent in the colorectum and esophagus. Although their pathogenesis and clinical manifestations are different, these tumor syndromes confer a high risk for developing multiple neoplasms.
介绍。胃肠道间质瘤(GIST)最常发生在胃和小肠近端。的目标。描述了多重组织病理学检查。案件描述。多发性间质瘤是一种罕见的肿瘤,起源于间质细胞。Conclussion。胃肠道间质瘤可以发生在肠道的任何部位,最常见于胃和小肠,较少发生在结直肠和食道。虽然它们的发病机制和临床表现不同,但这些肿瘤综合征具有发生多发性肿瘤的高风险。
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引用次数: 0
Pathophysiological roles of ERα in the ER signaling mediated oncogenesis of breast cancer ERα在内质网信号介导的乳腺癌发生中的病理生理作用
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2020.4.6
Sultan Abda Neja
Introduction. Estrogen receptors (ER) are members of nuclear receptors that act in the ER signaling pathway regulating the pathophysiology of hormone-responsive target cells including breast tissue. Aim. This detailled review literature was written on the pathophysiology of ER signaling as well as the effect altered ERα and associated pathway derangement in the oncogenesis of breast cancer. Material and methods. This review was performed according to systematic literature search of three major bibliographic databases (Scopus, PubMed, and Cochran). Analysis of the literature. In this pathway, estrogen receptor alpha (ERα) is a key estradiol-17β (E2) induced transcription factor that has been implicated in the initiation and development of the major fraction of breast cancers. Hence understanding the ERα-mediated ER signaling that results in alterations from normal phenotypic features of breast tissue to the oncogenic features of breast cancer is important. The oncogenic effect of ERα in ER signaling is driven by combinations of molecular assets within the cancer cells. Normally, the transcriptional activity of ERα is controlled by tight regulation of its protein level inside the cells. Altered stability and activity of ERα due to its phosphorylation, ubiquitination, glycosylation, sumoylation, and acetylation events can trigger oncogenic ER signaling. Conclusion. The function and activity of ERα is also modulated by its interaction with coregulators as well as crosstalk with oncogenic factors from other oncogenic pathways. These all events increase the complexity of the progression of ER+ breast cancer and its response to endocrine therapy.
介绍。雌激素受体(Estrogen receptor, ER)是核受体中的一员,在雌激素受体信号通路中起作用,调节包括乳腺组织在内的激素应答靶细胞的病理生理。的目标。本文详细综述了内质网信号的病理生理,以及内质网α改变和相关通路紊乱在乳腺癌发生中的作用。材料和方法。本综述是根据三个主要书目数据库(Scopus、PubMed和Cochran)的系统文献检索进行的。文献分析。在这一途径中,雌激素受体α (ERα)是雌二醇-17β (E2)诱导的关键转录因子,参与了大部分乳腺癌的发生和发展。因此,了解ERα介导的内质网信号导致乳腺组织从正常表型特征到乳腺癌的致癌特征的改变是很重要的。ERα在内质网信号中的致癌作用是由癌细胞内的分子资产组合驱动的。正常情况下,ERα的转录活性受到细胞内ERα蛋白水平的严格调控。由于ERα的磷酸化、泛素化、糖基化、sumo化和乙酰化事件,ERα的稳定性和活性的改变可以触发致癌的ER信号。结论。ERα的功能和活性也通过其与共调节因子的相互作用以及与其他致癌途径的致癌因子的串扰来调节。这些事件增加了雌激素受体阳性乳腺癌进展及其对内分泌治疗的反应的复杂性。
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引用次数: 1
The expression of CD44, CD90 and CD133 in response to cisplatin in hepatocellular cancer cells 顺铂对肝癌细胞中CD44、CD90和CD133表达的影响
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.3
Yaprak Donmez Cakil, Z. Ozunal, D. Kayalı, R. Aktas
Introduction. Cancer is a leading cause of mortality. Hepatocellular cancer is one of the malignancies associated with poor outcome and resistance to pharmacotherapy. Cancer stem cells (CSCs) contribute to resistance to therapy and hence lead to the treatment failure of tumors. Aim. This study aims to explore the expression of CSCs in response to cisplatin treatment in HepG2 hepatocellular cancer cell line. Material and methods. Cell proliferation test, CCK-8, was used to evaluate the cell proliferation following cisplatin treatment for 72 hours. The expressions of CSC markers CD44, CD90, and CD133 were assessed by flow cytometric analysis. Results. The results showed a dose-dependent decrease in cell proliferation and increased expression of CSC markers CD44 and CD90 in response to cisplatin. Conclusion. Understanding the roles of CSC markers may point to new targets and therapeutic strategies to predict and overcome cisplatin resistance.
介绍。癌症是导致死亡的主要原因。肝细胞癌是一种预后差且对药物治疗有耐药性的恶性肿瘤。肿瘤干细胞(Cancer stem cells, CSCs)有助于抵抗治疗,从而导致肿瘤治疗失败。的目标。本研究旨在探讨CSCs在HepG2肝癌细胞系顺铂治疗后的表达。材料和方法。采用细胞增殖试验CCK-8评价顺铂治疗72小时后细胞增殖情况。流式细胞术检测CSC标志物CD44、CD90和CD133的表达。结果。结果显示,顺铂治疗后,细胞增殖呈剂量依赖性下降,CSC标志物CD44和CD90的表达增加。结论。了解CSC标志物的作用可能为预测和克服顺铂耐药提供新的靶点和治疗策略。
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引用次数: 0
Changes in haematological parameters and serum beta-2-microglobulin levels in CD4+ T-cells-stratified Nigerian HIV patients CD4+ t细胞分层尼日利亚HIV患者血液学参数和血清β -2微球蛋白水平的变化
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.5
J. Olaniyi, G. J. Emeka, A. Onifade, A. Adeyanju, S. Rahamon
Introduction. Reports have shown that there is a rise in beta-2-microglobulin (β2M) concentration in patients with HIV infection and that the degree of elevation correlates well with the extent of disease burden and could be an independent prognostic marker for death. However, there is the dearth of information on the interplay between alteration in haematological profile, a common cause of morbidity and mortality in HIV, and β2M. Aim. Changes in selected haematological parameters and β2M in Nigerian HIV patients stratified based on CD4+ T-cells counts were thus assessed in this study. Material and methods. Forty-eight asymptomatic, drug naive HIV patients were enrolled into this cross-sectional study. Haemoglobin concentration (Hb), packed cell volume (PCV), total and differential white blood cell count, platelet count and CD4+ T-cells count were determined using standard methods while serum levels of β2M were determined using ELISA. Thereafter, the patients were stratified into three groups based on the CD4+ T-cells count. Results. Hb and lymphocyte counts increased with increasing CD4+ T-cells count. In contrast, neutrophils percentage, MCV and MCH reduced with increasing CD4+ T-cells count. The mean lymphocytes percentage was significantly higher while the mean neutrophils percentage was significantly lower in patients with CD4+ T-cells count of 500–800 cells/μl compared with the patients with CD4+ T-cells count <200 cells/μl. Similarly, the mean MCV was significantly lower in patients with CD4+ T-cells count of 500–800 cells/μl compared with patients with CD4+ T-cells count of 200–499 cells/μl and patients with CD4+ T-cells count <200 cells/μl. β2M had significant positive correlation with WBC and neutrophils percentage but had a significant negative correlation with lymphocytes percentage and MCH in patients with CD4+ T-cells count <200 cells/μl. However, β2M had significant positive correlation with PCV, Hb, monocytes and morphology in patients with CD4+ T-cells count of 500–800 cells/μl. Conclusion. It could be concluded from this study that HIV infection is associated with alteration in haematological profile and the alteration is CD4+ T-cells count-dependent. Also, elevation in β2M concentration appears to be a marker of lymphopaenia in patients with low CD4+ T-cells count.
介绍。有报告显示,HIV感染患者的β -2微球蛋白(β2M)浓度升高,且升高程度与疾病负担程度密切相关,可能是死亡的独立预后指标。然而,缺乏关于血液学特征改变(HIV发病率和死亡率的常见原因)与β2M之间相互作用的信息。的目标。因此,本研究评估了尼日利亚HIV患者根据CD4+ t细胞计数分层的选定血液学参数和β2M的变化。材料和方法。48名无症状、未接受药物治疗的HIV患者被纳入这项横断面研究。采用标准方法测定血红蛋白浓度(Hb)、堆积细胞体积(PCV)、白细胞总数和差异数、血小板计数和CD4+ t细胞计数,ELISA法测定血清β2M水平。之后,根据CD4+ t细胞计数将患者分为三组。结果。Hb和淋巴细胞计数随着CD4+ t细胞计数的增加而增加。相比之下,中性粒细胞百分比、MCV和MCH随着CD4+ t细胞计数的增加而降低。与CD4+ t细胞计数<200细胞/μl的患者相比,CD4+ t细胞计数在500 ~ 800细胞/μl的患者淋巴细胞的平均百分比显著增高,中性粒细胞的平均百分比显著降低。同样,CD4+ t细胞计数500 ~ 800个细胞/μl患者的平均MCV也明显低于CD4+ t细胞计数200 ~ 499个细胞/μl和CD4+ t细胞计数<200个细胞/μl的患者。在CD4+ t细胞计数<200细胞/μl的患者中,β2M与WBC、中性粒细胞百分比呈显著正相关,与淋巴细胞百分比、MCH呈显著负相关。而在CD4+ t细胞计数为500 ~ 800个/μl的患者中,β2M与PCV、Hb、单核细胞及形态学呈显著正相关。结论。从本研究可以得出结论,HIV感染与血液学特征的改变有关,并且这种改变依赖于CD4+ t细胞计数。此外,β2M浓度升高似乎是CD4+ t细胞计数低的患者淋巴肿大的标志。
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引用次数: 1
Analysis of the bacterial biofilm formation in different models of the in vitro culture 不同体外培养模式下细菌生物膜形成的分析
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.6
Agnieszka Bogut, A. Magryś
Introduction. Microtiter plate assay (MPA) remains one of workhorses of in vitro biofilm research but it requires optimization of experimental conditions to fulfill the biofilm formation requirements of different bacterial pathogens. Aim. The aim was to determine the effect of TSB and RPMI1640 culture media and selected culture variables (O2 vs. 5% CO2, extended incubation time) on the biofilm production by bacteria commonly involved in biofilm-related infections: Enterococcus faecalis (EF), Escherichia coli (EC), Staphylococcus aureus (SA), Pseudomonas aeruginosa (PA), Klebsiella pneumoniae (KP). Material and methods. The investigation was performed using the MPA with crystal violet. Results. Statistically significant (p<0.05) increase in biofilm production between 24h and 72h time points was observed for EF (TSB o2, RPMIo2 and RPMIco2), EC (TSBo2), SA (TSBo2, TSBco2), KP (TSBo2, TSBco2), PA (RPMIco2, TSBco2). The TSB caused a significantly greater stimulation of biofilm production compared to RPM1640. It outcompeted RPMI1640 irrespective of the atmospheric conditions for SA and KP and under aerobic conditions for EF. Conclusion. Although the TSB provided the most optimal conditions for biofilm production, the process was influenced by the strain type, atmospheric conditions and period of cultivation which limits the ability to design a single universal model of the in vitro biofilm investigation.
介绍。微滴板法(MPA)是体外生物膜研究的主要方法之一,但需要对实验条件进行优化,以满足不同病原菌对生物膜形成的要求。的目标。目的是确定TSB和RPMI1640培养基和选定的培养变量(O2 vs. 5% CO2,延长培养时间)对粪肠球菌(EF)、大肠埃希菌(EC)、金黄色葡萄球菌(SA)、铜绿假单胞菌(PA)、肺炎克雷伯菌(KP)等生物膜相关感染细菌产生生物膜的影响。材料和方法。用结晶紫的MPA进行了研究。结果。EF (TSBo2、RPMIo2、RPMIco2)、EC (TSBo2)、SA (TSBo2、TSBco2)、KP (TSBo2、TSBco2)、PA (RPMIco2、TSBco2)的生物膜产量在24h ~ 72h时间点间均有显著升高(p<0.05)。与RPM1640相比,TSB对生物膜产生的刺激明显更大。无论在大气条件下SA和KP,在好氧条件下EF,它都优于RPMI1640。结论。虽然TSB为生物膜的生产提供了最优的条件,但该过程受菌株类型、大气条件和培养时间的影响,限制了设计单一通用的体外生物膜研究模型的能力。
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引用次数: 1
Membrane lipids under norm and pathology 正常及病理膜脂
Pub Date : 2021-01-01 DOI: 10.15584/EJCEM.2021.1.9
B. Marzoog, T. I. Vlasova
Introduction. Lipid is an essential component of the cell and its organelles membrane. The uniqueness and selectivity of lipids to specific functions and asymmetry of lipid distribution in the organelle’s membrane give the cell ability of being highly qualified and specified. Aim. The paper provides a comprehensive review of membrane lipids in different tissues and organelles of the cell in norm and disease. Material and methods. The paper analyzed the present literature data on membrane lipids behavior in physiology and pathology. Analysis of the literature. The major structural and functional lipids of the cell membrane are phosphatidylcholine > phosphatidylethanolamine. The absence/deficiency or augmentation of a specific type of lipid results in serious defects and usually life-threatening with a permanent disability. The observations discussed here suggest, the lipid peroxidation severity depends on the membrane lipid composition of the cell. Some tissue cells can handle lipoperoxidation and protect themselves from the peroxidation damaging products better, while other cells cannot compensate. Therefore, some organs are highly sensitive to peroxidation and irreversible changes occur rapidly. Conclusion. To sum up, the understanding of lipid’s role in norm and disease is clinically crucial to evaluate a novel therapeutic target to treat many metabolic disorders such as metabolic syndrome and some lysosomal storage disorders via targeting specific new signaling pathways, lipid molecules, and enzymes.
介绍。脂质是细胞及其细胞器膜的重要组成部分。脂质对特定功能的独特性和选择性,以及脂质在细胞器膜上分布的不对称性,赋予了细胞高度定性和特异性的能力。的目标。本文对正常和疾病中不同组织和细胞器中的膜脂进行了综述。材料和方法。本文对膜脂在生理和病理方面的行为进行了分析。文献分析。细胞膜的主要结构和功能脂质是磷脂酰胆碱>磷脂酰乙醇胺。一种特定类型的脂质缺失/缺乏或增加会导致严重的缺陷,通常会危及生命并导致永久性残疾。这里讨论的观察结果表明,脂质过氧化的严重程度取决于细胞的膜脂组成。一些组织细胞能较好地处理脂质过氧化,保护自己免受过氧化损伤产物的伤害,而另一些细胞则无法补偿。因此,一些器官对过氧化反应非常敏感,不可逆的变化会迅速发生。结论。综上所述,了解脂质在正常和疾病中的作用,对于评估新的治疗靶点,通过靶向特定的新信号通路、脂质分子和酶来治疗许多代谢紊乱,如代谢综合征和一些溶酶体储存紊乱,具有重要的临床意义。
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引用次数: 5
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临床和实验医学杂志
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