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Clinical manifestation variability of bullous pemphigoid. 大疱性类天疱疮的临床表现变异性。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_104
Danka Svecova, Jana Nemsovska, Pavel Babal

Background: Bullous pemphigoid (BP) is a rare autoimmune blistering disease predominantly affecting the elderly population.

Objectives: The present study aims to identify clinical factors that may influence outcomes of BP, including skin phenotype, serology, mucosal involvement, pruritus, and triggers.

Methods: A retrospective analysis was conducted on 70 cases with BP registered from January 2019 to December 2022. The Bullous Pemphigoid Disease Activity Index (BPDAI) score was used to assess disease intensity. The BPDAI-Pruritus score and a modified Brest questionnaire were used to document pruritus. Anti-BP180 and anti-BP230 autoantibodies were regularly recorded. Peripheral blood eosinophil counts were documented during flare-up and remission phases of BP.

Results: Of the cases, 81.4% were identified with bullous BP, 12.9% with nonbullous BP and 5.7% with localized BP. Oral involvement was documented in 17.1% of cases. Increased peripheral eosinophilia was prominent in the nonbullous phenotype and returned to normal level during remission in both phenotypes.

Conclusion: The outcomes of BP depended on the disease phenotype and trigger types. Bullous BP showed more intense disease activity, while nonbullous BP demonstrated more intense pruritus. BP associated with diabetes mellitus (DM) or psoriasis manifested as a more severe disease, predominantly with the bullous phenotype and pruritus, compared to cases without comorbidities. New triggers, including SARS-CoV-2 infection and vaccination, were documented (Tab. 6, Ref. 43). Text in PDF www.elis.sk Keywords: bullous pemphigoid, nonbullous pemphigoid, pruritus, comorbidity, eosinophilia, new triggers.

背景:大疱性类天疱疮(BP)是一种罕见的自身免疫性水疱病,主要影响老年人群:本研究旨在确定可能影响大疱性类天疱疮预后的临床因素,包括皮肤表型、血清学、粘膜受累、瘙痒和诱发因素:方法:对2019年1月至2022年12月登记的70例BP患者进行回顾性分析。采用大疱性类天疱疮疾病活动指数(BPDAI)评分来评估疾病强度。BPDAI-瘙痒评分和改良的布雷斯特问卷用于记录瘙痒情况。定期记录抗 BP180 和抗 BP230 自身抗体。在 BP 爆发期和缓解期记录外周血嗜酸性粒细胞计数:结果:81.4%的病例被确诊为牛皮癣,12.9%为非牛皮癣,5.7%为局部牛皮癣。17.1%的病例有口腔受累记录。外周嗜酸性粒细胞增多在非大疱性表型中很突出,在两种表型的缓解期均恢复到正常水平:结论:BP 的预后取决于疾病表型和诱因类型。结论:BP 的结果取决于疾病表型和诱因类型。大疱性 BP 表现出更强烈的疾病活动,而非大疱性 BP 则表现出更强烈的瘙痒。与无并发症的病例相比,伴有糖尿病(DM)或银屑病的 BP 表现为更严重的疾病,主要表现为牛皮癣表型和瘙痒。新的诱发因素包括 SARS-CoV-2 感染和疫苗接种(参考文献 43,表 6)。PDF 格式的文本 www.elis.sk 关键词: 大疱性类天疱疮、非大疱性类天疱疮、瘙痒、合并症、嗜酸性粒细胞增多、新的诱发因素。
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引用次数: 0
MMP9 and pancreatic cancer. MMP9 与胰腺癌
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_110
Veronika Roskovicova, Jana Katuchova, Ivana Vecurkovska, Jana Maslankova, Maria Marekova, Jozef Radonak, Vladimir Katuch

Background: Pancreatic carcinoma is one of the most severe oncological diseases of the gastrointestinal tract. At the time of diagnosis, up to 28% of patients have metastatic liver damage, and only 5% of patients survive five years. Scientific research focuses on non-invasive markers that could help screen for the disease and identify patients more quickly. Potential biomarkers also include matrix metalloproteinases, which play a role in oncogenesis.

Material and methods: We prospectively followed 46 patients with pancreatic cancer and benign pancreatic diseases from September 2022 to March 2023. We determined the level of MMP9 in serum and tissue biopsied during surgeries.

Result: As a result, MMP9 levels were elevated from the T2 stage. The correlation between disease stage and MMP9 level was not confirmed in lower stages, possibly due to the small group of patients.

Conclusion: MMP9 seems suitable for detecting late stages of pancreatic cancer, possibly for secondary prevention. We could not confirm a correlation between MMP9 levels and the initial stages of the disease (Tab. 1, Fig. 3, Ref. 21). Text in PDF www.elis.sk Keywords: pancreatic cancer, MMP9, marker, non-invasive, screening.

背景:胰腺癌是胃肠道最严重的肿瘤疾病之一。确诊时,多达 28% 的患者会出现肝转移性损伤,只有 5% 的患者能存活五年。科学研究的重点是有助于筛查这种疾病并更快确定患者的非侵入性标记物。潜在的生物标志物还包括在肿瘤发生过程中发挥作用的基质金属蛋白酶:从2022年9月到2023年3月,我们对46名胰腺癌和良性胰腺疾病患者进行了前瞻性随访。我们测定了血清和手术活检组织中的 MMP9 水平:结果:MMP9 水平从 T2 阶段开始升高。结果:MMP9水平从T2期开始升高,但在较低期,疾病分期与MMP9水平之间的相关性未得到证实,这可能是由于患者人数较少所致:结论:MMP9 似乎适用于检测胰腺癌晚期,也可用于二级预防。我们无法证实 MMP9 水平与疾病初期阶段之间存在相关性(表 1,图 3,参考文献 21)。Text in PDF www.elis.sk Keywords: pancreatic cancer, MMP9, marker, non-invasive, screening.
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引用次数: 0
The ROX, shock and diastolic shock indexes in the prediction of mortality in COVID-19. COVID-19中预测死亡率的ROX、休克和舒张性休克指数。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_76
Serdal Ates, Mehmet Okumus, Erdal Demirtas, Yahya Kemal Gunaydin, Sertac Guler

Objectives: The aim of this study is to determine the role of Respiratory Rate Oxygenation (ROX), shock, and diastolic shock indexes ​​in predicting mortality in coronavirus disease 2019 (COVID-19) patients admitted to the emergency department.

Background: The COVID-19 spread worldwide in a short time and caused a major pandemic. The ROX, shock, and diastolic shock indexes are used in various life-threatening clinical situations. The use of these indexes in triage at emergency departments can accelerate the determination of COVID-19 patients' severity.

Methods: The ROX, shock and diastolic shock indices were calculated and recorded. Patients were divided into three groups; 1) who were discharged from the hospital, 2) who were admitted to the hospital and 3) who were admitted to the intensive care unit.

Results: Increased diastolic shock index and decreased ROX index were found to be independent risk factors for mortality. In the prediction of mortality, the sensitivity and specificity of the diastolic shock index were 61.2% and 60.8%, respectively. However, the sensitivity and specificity of ROX index was 73.1% and 71.5%, respectively.

Conclusion: In conclusion, we found that the ROX index had higher sensitivity and specificity than other indexes in predicting mortality in the evaluation of COVID-19 patients (Tab. 3, Fig. 2, Ref. 18).

研究目的本研究旨在确定呼吸频率氧合(ROX)、休克和舒张性休克指数在预测急诊科收治的2019年冠状病毒病(COVID-19)患者死亡率中的作用:背景:COVID-19病毒在短时间内蔓延全球,并引发了一场大流行。ROX、休克和舒张性休克指数被用于各种危及生命的临床情况。在急诊科分诊时使用这些指数可加快确定 COVID-19 患者的严重程度:方法:计算并记录 ROX、休克和舒张性休克指数。将患者分为三组:1)出院患者;2)住院患者;3)入住重症监护室患者:结果发现,舒张性休克指数升高和 ROX 指数降低是死亡率的独立危险因素。在预测死亡率方面,舒张性休克指数的敏感性和特异性分别为 61.2% 和 60.8%。然而,ROX指数的敏感性和特异性分别为73.1%和71.5%:总之,在对 COVID-19 患者进行评估时,我们发现 ROX 指数在预测死亡率方面比其他指数具有更高的敏感性和特异性(表 3,图 2,参考文献 18)。
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引用次数: 0
Clinical utility of biomarkers of hepatocellular carcinoma. 肝细胞癌生物标志物的临床实用性。
IF 1.5 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_016
Abdul Fatawu Mohammed, Xu Chen, Chengbin Li

Hepatocellular carcinoma (HCC) is one of the most common forms of cancer significantly affecting the mortality and morbidity rates. The increasing incidence of HCC is a great concern across the globe. The current methods of HCC screening, detection and diagnosis depend mainly on imaging techniques. However, biomarkers represent a relatively easy and noninvasive way to detect and estimate the disease prognosis. New potential biomarkers such as α-fetoprotein (AFP), des‑γ‑carboxyprothrombin (DCP), α-fetoprotein L3 (AFP-L3), glypican 3 (GCP3), micro-RNA, and Golgi-protein 73 (GP73) are being used more often in the diagnosis and prognosis of HCC. The lack of prudent diagnostic measures makes early detection of HCC nearly impossible. The use of biomarkers to detect cancer has helped to screen for the disease. However, the most commonly used biomarkers for HCC have inadequate performance characteristics. Despite numerous efforts to identify molecules as potential biomarkers, there is no single ideal marker for HCC. In this paper the main biomarkers for the surveillance, diagnosis and prognosis of HCC are reviewed. The advantages and limitations of these biomarkers are summarized, and the future development directions are proposed (Tab. 1, Ref. 30). Keywords: hepatocellular carcinoma, biomarkers, AFP, DCP, diagnosis.

肝细胞癌(HCC)是最常见的癌症之一,严重影响死亡率和发病率。肝细胞癌发病率的不断上升引起了全球的高度关注。目前筛查、检测和诊断 HCC 的方法主要依赖于成像技术。然而,生物标志物是一种相对简便、无创的检测和评估疾病预后的方法。α-胎儿蛋白(AFP)、去γ-羧基凝血酶原(DCP)、α-胎儿蛋白 L3(AFP-L3)、糖蛋白 3(GCP3)、微小核糖核酸(micro-RNA)和球蛋白 73(GP73)等新的潜在生物标志物正越来越多地被用于 HCC 的诊断和预后。由于缺乏审慎的诊断措施,早期发现 HCC 几乎是不可能的。使用生物标记物检测癌症有助于筛查这种疾病。然而,最常用的 HCC 生物标记物的性能特征并不完善。尽管人们在确定潜在生物标志物分子方面做出了许多努力,但目前还没有一种理想的 HCC 标志物。本文回顾了用于监测、诊断和预后 HCC 的主要生物标志物。总结了这些生物标记物的优势和局限性,并提出了未来的发展方向(表 1,参考文献 30)。关键词:肝细胞癌、生物标志物、AFP、DCP、诊断。
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引用次数: 0
The low birth weights of newborns conceived using assisted reproduction technology. 利用辅助生殖技术受孕的新生儿出生体重偏低。
IF 1.5 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_023
Eva Waldaufova, Anna Stastna, Tomas Fait

Couples are increasingly using assisted reproduction technology (ART) to facilitate having children. This raises the question of whether using ART leads to the same health outcomes as spontaneous conception.One of the major health outcome factors concerns the weight of the newborn. Many foreign studies have proved that newborns conceived via ART evince lower birth weights than newborns that were conceived spontaneously. The purpose of this study is to determine whether the risk of low birth weight differs according to the ART method selected (in-vitro fertilisation with fresh embryo transfer, frozen embryo transfer, oocyte receipt), and which of these methods is associated with the lowest risk of a low birth weight. Anonymised individual data on all deliveries that took place in Czechia between 2013 and 2018 was used for the analysis. The dataset was obtained from the National Registry of Reproduction Health (administered by IHIS CR).The binary logistic regression revealed that concerning many of the covariates controlled, women who underwent IVF had a higher risk (30 %) of giving birth to a child with a low birth weight than women who received frozen embryo transfer treatment (CI 1.15-1.48). Women who underwent oocyte receipt treatment were found to have an even higher (52 %, CI 1.17-1.97) risk than women who received frozen embryo transfer. This study supports existing international knowledge of the specifics of the health outcomes of women who use ART (Tab. 1, Fig. 3, Ref. 32). Keywords: Low birth weight, assisted reproduction technology, in-vitro fertilisation, frozen embryo transfer, oocyte receipt.

越来越多的夫妇使用辅助生殖技术(ART)来生儿育女。这就提出了一个问题:使用 ART 是否会带来与自然受孕相同的健康结果。许多国外研究证明,通过 ART 受孕的新生儿出生体重低于自然受孕的新生儿。本研究的目的是确定新生儿体重过轻的风险是否因所选择的 ART 方法(体外受精与新鲜胚胎移植、冷冻胚胎移植、卵母细胞接收)而有所不同,以及哪种方法与新生儿体重过轻的最低风险相关。分析使用的是 2013 年至 2018 年期间在捷克进行的所有分娩的匿名个人数据。数据集来自国家生殖健康登记处(由IHIS CR管理)。二元逻辑回归结果显示,在控制了许多协变量的情况下,接受试管婴儿的妇女比接受冷冻胚胎移植治疗的妇女生育低出生体重儿的风险更高(30%)(CI为1.15-1.48)。接受卵细胞接收治疗的妇女比接受冷冻胚胎移植的妇女生育低体重儿的风险更高(52%,CI 1.17-1.97)。这项研究支持了国际上对使用抗逆转录病毒疗法的妇女的健康结果的具体情况的现有认识(表 1,图 3,参考文献 32)。关键词低出生体重、辅助生殖技术、体外受精、冷冻胚胎移植、卵母细胞接收。
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引用次数: 0
Zahorec index or Neutrophil-to-lymphocyte ratio, valid biomarker of inflammation and immune response to infection, cancer and surgery. Zahorec 指数或中性粒细胞与淋巴细胞比率,是炎症和对感染、癌症和手术的免疫反应的有效生物标志物。
IF 1.5 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_012
Jozef Firment, Ivan Hulin

Background: For many years, the physicians are searching for easily measurable marker of immune response to the stress and inflammation. More than, 20 years ago Zahorec (2001) proposed neutrophil-to-lymphocyte ratio (NLR) as an easy available and valid biomarker of inflammation, stress, and activation of immune system.

Methods: In this narrative review we focused on the utility of neutrophil-to-lymphocyte ratio (Zahorec's index) in clinical practice of general medicine (inflammation and infection), intensive medicine (sepsis), oncology (prediction of prognosis in cancer of solid organs), surgery and perioperative medicine (diagnosis of complications, and prediction of clinical outcome).

Results and conclusion: We provide many evidences of clinical research which confirm that Neutrophil-to-lymphocyte ratio is a very sensitive marker of inflammation, stress reliable and valid parameter in everyday clinical practice. NLR (Zahorec index) is an effective tool for diagnosis of infection and severity of disease of variable etiologies. NLR reflect the grade of inflammation in cancer disease, which has a significant impact on the prognosis of cancer patients. Zahorec index should be used routinely in emergency medicine, surgery and perioperative medicine as a marker of the severity of affliction, infection, and complications in general. NLR may help physicians in decision making process for early diagnosis and therapy. NLR should be investigated frequently in acute states (sepsis, shock, peritonitis, stroke, trauma) on a daily basis, in subacute states few times per week (during hospital stay), and few times per year in chronic disease (cancer, diabetes mellitus, ischemic heart disease, psychiatry disorders). NLR has a deep biological sense connecting together function of three suprasystems: immune, endocrinne and autonomous nervous system (Tab. 2, Fig. 3, Ref. 86).

背景介绍多年来,医生们一直在寻找易于测量的应激和炎症免疫反应标志物。20 多年前,Zahorec(2001 年)提出中性粒细胞与淋巴细胞比率(NLR)是炎症、应激和免疫系统激活的一种简便有效的生物标志物:在这篇叙述性综述中,我们重点讨论了中性粒细胞与淋巴细胞比值(Zahorec 指数)在全科医学(炎症和感染)、重症医学(败血症)、肿瘤学(实体器官癌症预后预测)、外科和围手术期医学(并发症诊断和临床结果预测)等临床实践中的应用:我们提供了许多临床研究证据,证实中性粒细胞与淋巴细胞比值是非常敏感的炎症标志物,是日常临床实践中可靠有效的压力参数。NLR(Zahorec 指数)是诊断感染和不同病因疾病严重程度的有效工具。NLR 反映了癌症疾病的炎症程度,对癌症患者的预后有重要影响。Zahorec 指数应在急诊医学、外科和围手术期医学中常规使用,作为疾病、感染和一般并发症严重程度的标志。NLR 可以帮助医生做出早期诊断和治疗的决策。在急性期(败血症、休克、腹膜炎、中风、创伤)应每天经常检测 NLR,在亚急性期(住院期间)每周检测几次,在慢性病(癌症、糖尿病、缺血性心脏病、精神疾病)中每年检测几次。NLR 具有深刻的生物学意义,将免疫、内分泌和自主神经系统这三个超级系统的功能联系在一起(表 2,图 3,参考文献 86)。
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引用次数: 0
Characterization of HIV-1 subtypes and drug resistance mutations in Slovakia: update 2017-2018. 斯洛伐克 HIV-1 亚型和耐药性突变的特征:2017-2018 年更新。
IF 1.5 4区 医学 Q2 Medicine Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_26
Monika Habekova, Danica Valkovicova Stanekova, Maria Takacova, Alexandra Kovarova

Objectives: This study aimed to provide an overview on the HIV-1 subtypes circulating in Slovakia between 2017 and 2018 and to evaluate the risk of transmission of HIV‑resistant strains.

Background: The HIV epidemic in Slovakia is characterised by low incidence of new and pre-existing infections and a slightly elevated level of strain heterogeneity.

Methods: Partial HIV pol gene sequences of 110 individuals newly diagnosed with HIV between 2017 and 2018 were analysed.

Results: The genotypic analysis revealed sporadic occurrence of mutations linked to HIV resistance to antiretroviral therapy (ART). The HIV-1 B subtype has been found as predominant (84.55 %) and primarily linked to men who have sex with men (MSM). A total of eighteen individuals (15.45 %) were found to be infected with HIV-1 non-B subtypes.

Conclusion: The data suggest a minimal risk of a resistant HIV strain transmission and a marginal rise of HIV-1 subtypes´ diversity. The HIV-1 B subtype remains the most prevalent in the period 2017-2018 in Slovakia (Tab. 2, Fig. 2, Ref. 37).

研究目的本研究旨在概述2017年至2018年间在斯洛伐克流行的HIV-1亚型,并评估HIV耐药株的传播风险:斯洛伐克艾滋病疫情的特点是新感染者和原有感染者的发病率较低,菌株异质性略高:分析了2017年至2018年间110名新诊断为HIV感染者的部分HIV pol基因序列:基因型分析表明,零星出现的突变与艾滋病毒对抗逆转录病毒疗法(ART)的耐药性有关。发现HIV-1 B亚型占主导地位(84.55%),主要与男男性行为者(MSM)有关。共发现 18 人(15.45%)感染了 HIV-1 非 B 亚型:这些数据表明,耐药 HIV 株传播的风险很小,HIV-1 亚型的多样性略有上升。2017-2018年期间,HIV-1 B亚型仍是斯洛伐克最流行的病毒(表2,图2,参考文献37)。
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引用次数: 0
Elevated pretreatment lactate dehydrogenase and albumin-to-alkaline phosphatase ratio predict poor prognosis and early treatment discontinuation in head and neck cancer patients with preexistent diabetes mellitus. 治疗前乳酸脱氢酶和白蛋白与碱性磷酸酶比值升高可预测患有糖尿病的头颈癌患者的不良预后和早期终止治疗。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_70
Camil Ciprian Mireștean, Mihai Cosmin Stan, Roxana Irina Iancu, Dragoș Petru Teodor Iancu, Florinel Bădulescu

Increased serum lactate dehydrogenase (LDH) activity is considered as a marker of cellular necrosis and serves as a metabolomic diagnostic marker in several types of cancer including head and neck squamous cell carcinoma (HNSCC). LDH, an enzyme involved in the glycolytic cycle, is correlated not only with the activation of oncogenes such as HIF-α and Myc, but also with effects such as tumor proliferation and metastasis. Serum alkaline phosphatase (ALP) is a marker of cell differentiation and tumor induction. Albumin-to-alkaline phosphatase ratio (AAPR) could be an advantageous biomarker due to its easily accessible dynamics and cost-effectiveness. Elevated values of AAPR could be associated with longer overall survival (OS) in cases with solid tumors. Diabetes mellitus (DM) could influence the outcome of patients with HNSCC by contributing to insulin resistance and chronic inflammation, and by being involved in various aspects of carcinogenesis, disease progression and metastasis. However, the use of antihyperglycemic medications (metformin) can have beneficial effects by inhibiting tumor metabolic pathways. The biomarker role of LDH and AAPR in HNSCC patients with DM has been less evaluated. The purpose of the study was to assess the prognostic value of pretreatment serum lactate dehydrogenase (LDH) and albumin-to-alkaline phosphatase ratio (AAPR) in predicting the duration of non-surgical oncological treatment and glycemic control in cases of head and neck cancers patients with DM, including cases selected from the database of the oncology clinic and oncology outpatient clinic of the Craiova County Hospital. Both LDH and AAPR can be used as pre-treatment biomarkers predictive of treatment response, or prognostic tools included in complex multi-parametric models in HNC associated with DM. However, given the impact of short-term glycemic control on the LDH level, it is necessary to evaluate these biomarkers after assessing and controlling for DM, and with the recommended cut-off value set around 0.5. Due to the limited number of cases, it is necessary to validate the results in multicentric trials with a larger number of patients (Tab. 5, Ref. 50). Keywords: diabetes mellitus, HNC, LDH, AAPR, biomarkers, predictive, head and neck cancers, lactate dehydrogenase, albumin-to-alkaline phosphatase ratio.

血清乳酸脱氢酶(LDH)活性升高被认为是细胞坏死的标志,也是包括头颈部鳞状细胞癌(HNSCC)在内的几种癌症的代谢组学诊断标志。LDH 是一种参与糖酵解循环的酶,不仅与 HIF-α 和 Myc 等癌基因的激活有关,还与肿瘤增殖和转移等效应有关。血清碱性磷酸酶(ALP)是细胞分化和肿瘤诱导的标志物。白蛋白-碱性磷酸酶比值(AAPR)因其易于获得的动态性和成本效益而成为一种有利的生物标志物。白蛋白与碱性磷酸酶比值升高可能与实体瘤患者总生存期(OS)延长有关。糖尿病(DM)可导致胰岛素抵抗和慢性炎症,并参与癌变、疾病进展和转移的各个方面,从而影响 HNSCC 患者的预后。然而,使用降糖药物(二甲双胍)可通过抑制肿瘤代谢途径产生有益的影响。目前还较少评估 LDH 和 AAPR 在患有 DM 的 HNSCC 患者中的生物标记作用。该研究的目的是评估治疗前血清乳酸脱氢酶(LDH)和白蛋白与碱性磷酸酶比值(AAPR)在预测头颈部肿瘤患者非手术治疗时间和血糖控制方面的预后价值,这些病例选自克拉约瓦县医院肿瘤诊所和肿瘤门诊的数据库。LDH 和 AAPR 均可作为预测治疗反应的治疗前生物标记物,或作为与 DM 相关的 HNC 复杂多参数模型中的预后工具。然而,考虑到短期血糖控制对 LDH 水平的影响,有必要在评估和控制 DM 后再评估这些生物标志物,并将推荐的临界值设定在 0.5 左右。由于病例数量有限,有必要在有更多患者参与的多中心试验中验证结果(表 5,参考文献 50)。关键词:糖尿病、HNC、LDH、AAPR、生物标志物、预测性、头颈部癌症、乳酸脱氢酶、白蛋白与碱性磷酸酶比值。
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引用次数: 0
A genome-wide association study of longitudinal change in CSF tau among non-demented elderly. 非痴呆老年人 CSF tau 纵向变化的全基因组关联研究。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_99
Yingbei Liu, Na Zhang, Shulei Liu, Xiaoling Zhong, Ling Wang

Methods: This study conducted a genome-wide association study (GWAS) on longitudinal CSF t-tau and genotype data from 319 non-Hispanic Caucasians within the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. The aim was to identify genetic determinants influencing the rate of change in CSF t-tau, a key biomarker in AD.

Results: The GWAS identified a significant single nucleotide polymorphism (SNP), rs17149074, within the C9orf171 (CFAP77) gene region that showed significant association with changes in CSF t-tau over time. Additionally, five other SNPs-rs10916844, rs10916846, rs9425869, rs3744474, and rs8078303-were found to potentially influence CSF t-tau variability.

Conclusions: These findings not only enhance our understanding of t-tau's progression in AD but also suggest that these identified SNPs could serve as novel genetic biomarkers, potentially providing novel insights in the prognostic landscape of AD by refining the predictive value of CSF-tau measurements (Tab. 2, Fig. 2, Ref. 31). Text in PDF www.elis.sk Keywords: cerebrospinal fluid, t-tau, genome-wide association study, single nucleotide polymorphism, genetic factors.

研究方法这项研究对阿尔茨海默病神经影像学倡议(ADNI)队列中319名非西班牙裔白种人的纵向CSF t-tau和基因型数据进行了全基因组关联研究(GWAS)。研究的目的是确定影响CSF t-tau变化率的遗传决定因素:GWAS发现了C9orf171 (CFAP77)基因区域内一个重要的单核苷酸多态性(SNP)rs17149074,它与CSF t-tau随时间的变化有显著关联。此外,研究还发现其他五个 SNPs-rs10916844、rs10916846、rs9425869、rs3744474 和 rs8078303 有可能影响 CSF t-tau 的变化:这些发现不仅加深了我们对t-tau在AD中的进展的理解,而且还表明这些确定的SNPs可作为新型遗传生物标记物,通过完善CSF-tau测量的预测价值,为AD的预后提供新的见解(表2,图2,参考文献31)。Text in PDF www.elis.sk Keywords: cerebrospinal fluid, t-tau, genome-wide association study, single nucleotide polymorphism, genetic factors.
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引用次数: 0
Mitochondrial oxidative stress in immunopathogenesis of diseases. 疾病免疫发病机制中的线粒体氧化应激。
IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.4149/BLL_2024_107
Juraj Deglovic, Marek Supler, Mario Dvorzak, Katarina Gazdikova

Mitochondria are subcellular organelles involved in many metabolic events, including oxidative phosphorylation and signaling in tissue-specific processes. They play a key role in cell proliferation, differentiation and death.Diseases in the pathogenesis of which mitochondrial oxidative stress and immunity play a significant role include cancer, cardiovascular, nervous and rheumatic diseases as well as liver, lung and kidney diseases. In addition, mitochondria participate in the pathogenesis of infections and autoimmunity.Mitochondrial dysfunction can be positively influenced by administration of antioxidants, including coenzyme Q10 (Tab. 1, Fig. 5, Ref. 20). Text in PDF www.elis.sk Keywords: mitochondria, immunopathogenesis, bronchial asthma, chronic hepatitis C, reactive oxidative species, antioxidants, coenzyme Q10.

线粒体是一种亚细胞器,参与许多新陈代谢活动,包括组织特异性过程中的氧化磷酸化和信号传导。线粒体氧化应激和免疫在癌症、心血管疾病、神经疾病、风湿病、肝病、肺病和肾病等疾病的发病机制中发挥着重要作用。此外,线粒体还参与了感染和自身免疫的发病机制。线粒体功能障碍可通过服用包括辅酶 Q10 在内的抗氧化剂产生积极影响(表 1,图 5,参考文献 20)。Text in PDF www.elis.sk Keywords: mitochondria, immunopathogenesis, bronchial asthma, chronic hepatitis C, reactive oxidative species, antioxidants, coenzyme Q10.
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Bratislava Medical Journal-Bratislavske Lekarske Listy
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