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Hypothyroidism and autoimmune thyroid disorders in rheumatoıd arthritis: relationship wıth disease activity. 风湿性关节炎中的甲状腺功能减退症和自身免疫性甲状腺疾病:与疾病活动的关系。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-27 Print Date: 2024-06-01 DOI: 10.2478/rjim-2024-0002
Gülseren Demir Karakiliç, Pinar Borman, Seher Kocaoğlu, Ferda Büyük, Esra Şahingöz Bakirci

Background and aims: Thyroid function abnormalities and thyroid autoantibodies have previously been described in rheumatoid arthirits (RA) with limited data. In some studies, a relationship was found between thyroid autoantibodies and RA disease activity. However, there are not strong studies in the literature indicating the relationship between thyroid diseases and RA. The aim of this study was to determine the frequency of hypothyroidism and to investigate the relationship between thyroid hormone levels, autoantibodies and disease activity in patients with rheumatoid arthritis (RA). Methods : 1017 patients with the diagnosis of RA were recruited. This observational study was conducted between January 2014 and July 2015. Demographic variables were recorded. Anti-nuclear antibodies (ANA), anti-cyclic citrulli-nated peptide antibody (anti-CCP), Rheumatoid Factor (RF), C reactive protein (CRP), Erythrocyte Sedimentation Rate (ESR), thyroid stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4), anti-microsomal antibody (anti-TPO )and anti-thyroglobulin antibody (anti-TG) were determined. Visual analog score and Disease Activiy Score 28 (DAS-28) ESR and DAS-28 CRP were recorded. The relationship between thyroid hormone levels and thyroid antibodies and disease activity parameters were determined. Results: 98 (%9,7) patients had hypothyroidism and 61 (%6) patients had hyperthyroidism. 210 (20,7%) patients with RA was positive for TPOAb and 165(16,3%) for anti-TG. Positive correlation was detected between anti-TPO positivity and anti-CCP levels (p:0.005, r:0,274). In anti-TG antibody positive patients, there was a significant positive correlation of thyroid hormone levels with CRP and DAS 28-CRP (p:0.01, r:0,120; p:0.01, r:0,169). Conclusion: Thyroid autoantibodies were found to be positive in 16-21% of patients with RA. Though hypothyroidism is not very frequent in RA patients, autoimmune thyroid disease is quite common, which may be related to disease activity.

背景和目的:甲状腺功能异常和甲状腺自身抗体在类风湿关节炎(RA)患者中的描述曾经出现过,但数据有限。一些研究发现,甲状腺自身抗体与 RA 疾病活动性之间存在关系。然而,文献中并没有关于甲状腺疾病与 RA 关系的有力研究。本研究旨在确定类风湿关节炎(RA)患者中甲状腺功能减退症的发生率,并调查甲状腺激素水平、自身抗体和疾病活动性之间的关系。方法:招募了 1017 名确诊为类风湿关节炎的患者。这项观察性研究于 2014 年 1 月至 2015 年 7 月间进行。记录了人口统计学变量。测定了抗核抗体(ANA)、抗环瓜氨酸肽抗体(anti-CCP)、类风湿因子(RF)、C反应蛋白(CRP)、红细胞沉降率(ESR)、促甲状腺激素(TSH)、三碘甲状腺原氨酸(T3)、甲状腺素(T4)、抗微粒体抗体(anti-TPO)和抗甲状腺球蛋白抗体(anti-TG)。此外,还记录了视觉模拟评分、疾病活动评分 28(DAS-28)、血沉(ESR)和 CRP(DAS-28)。确定甲状腺激素水平、甲状腺抗体和疾病活动参数之间的关系。结果98例(9.7%)患者患有甲状腺功能减退症,61例(6%)患者患有甲状腺功能亢进症。210名(20.7%)RA患者的TPOAb呈阳性,165名(16.3%)患者的抗TG呈阳性。抗-TPO阳性与抗-CCP水平呈正相关(p:0.005, r:0.274)。在抗 TG 抗体阳性患者中,甲状腺激素水平与 CRP 和 DAS 28-CRP 呈显著正相关(p:0.01,r:0,120;p:0.01,r:0,169)。结论16%-21%的RA患者甲状腺自身抗体呈阳性。虽然甲状腺功能减退症在RA患者中并不常见,但自身免疫性甲状腺疾病却很常见,这可能与疾病的活动性有关。
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引用次数: 0
Comparison of outcomes of different modalities of renal replacement therapy in patients of acute kidney injury: a single centre prospective observational study. 急性肾损伤患者不同肾脏替代疗法效果的比较:单中心前瞻性观察研究。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-12-28 Print Date: 2024-06-01 DOI: 10.2478/rjim-2023-0033
H K Aggarwal, Deepak Jain, Arpit Agarwal, Shaveta Dahiya, Prabhakar Misra, Arup Saha

Background: Acute Kidney Injury (AKI) is one of the most important causes of in-hospital mortality. The global burden of AKI continues to rise without a marked reduction in mortality. As such, the use of renal replacement therapy (RRT) forms an integral part of AKI management, especially in critically ill patients. There has been much debate over the preferred modality of RRT between continuous, intermittent and intermediate modes. While there is abundant data from Europe and North America, data from tropical countries especially the Indian subcontinent is sparse. Our study aims to provide an Indian perspective on the dialytic management of tropical AKI in a tertiary care hospital setup.

Methods: 90 patients of AKI, 30 each undergoing Continuous Renal Replacement Therapy (CRRT), Intermittent Hemodialysis (IHD) and SLED (Sustained Low-Efficiency Dialysis) were included in this prospective cohort study. At the end of 28 days of hospital stay, discharge or death, outcome measures were ascertained which included mortality, duration of hospital stay, recovery of renal function and requirement of RRT after discharge. In addition median of the net change of renal parameters was also computed across the three groups. Lastly, Kaplan Meier analysis was performed to assess the probability of survival with the use of each modality of RRT.

Results: There was no significant difference in the primary outcome of mortality between the three cohorts (p=0.27). However, CRRT was associated with greater renal recovery (p= 0.015) than IHD or SLED. On the other hand, SLED and IHD were associated with a greater net reduction in blood urea (p=0.004) and serum creatinine (p=0.053).

Conclusion: CRRT, IHD and SLED are all complementary to each other and are viable options in the treatment of AKI patients.

背景:急性肾损伤(AKI)是导致院内死亡的最重要原因之一。AKI 的全球负担持续上升,而死亡率却没有明显下降。因此,使用肾脏替代疗法(RRT)是急性肾损伤治疗不可或缺的一部分,尤其是对重症患者而言。关于持续性、间歇性和中间性 RRT 的首选模式一直存在争议。虽然欧洲和北美有大量数据,但热带国家(尤其是印度次大陆)的数据却很少。方法:这项前瞻性队列研究纳入了 90 名 AKI 患者,其中接受持续肾脏替代疗法 (CRRT)、间歇性血液透析 (IHD) 和持续低效透析 (SLED) 的患者各 30 名。在住院 28 天、出院或死亡时,研究人员确定了包括死亡率、住院时间、肾功能恢复情况和出院后 RRT 需求在内的结果指标。此外,还计算了三组患者肾脏参数净变化的中位数。最后,还进行了卡普兰-梅耶尔分析,以评估使用每种 RRT 方式的存活概率:结果:三组患者的主要死亡率结果无明显差异(P=0.27)。然而,与 IHD 或 SLED 相比,CRRT 与更大的肾功能恢复相关(p= 0.015)。另一方面,SLED 和 IHD 与血尿素(p=0.004)和血清肌酐(p=0.053)的净减少幅度更大相关:结论:CRRT、IHD 和 SLED 可相互补充,是治疗 AKI 患者的可行方案。
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引用次数: 0
Hypereosinophilic syndrome presenting as eosinophilic gastroenteritis exacerbated by clopidogrel bisulphate. 高嗜酸性粒细胞综合征表现为嗜酸性胃肠炎,盐酸氯吡格雷加重。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-05 Print Date: 2023-12-01 DOI: 10.2478/rjim-2023-0022
Taro Horino, Hiroshi Ohnishi, Masahiro Komori, Yoshio Terada

Clopidogrel is a widely prescribed prodrug with antithrombotic activity that functions by irreversibly inhibiting the P2Y12 receptors on platelets; nevertheless, drug-induced eosinophilia from this drug is rarely reported. An 81-year-old man was diagnosed with cerebral infarction 2 months earlier and was admitted to our hospital with rash, fever, wheezing, and stomach discomfort after being initiated with clopidogrel treatment. Based on his medical history, chest CT, and gastroscopy, we diagnosed him with clopidogrel-induced hypereosinophilic syndrome. After discontinuation of clopidogrel, the eosinophilia and symptoms improved. In cases of drug-induced eosinophilia, it is important to obtain a detailed medical history.

氯吡格雷是一种广泛使用的前药,具有抗血栓活性,通过不可逆地抑制血小板上的P2Y12受体发挥作用;然而,该药引起的嗜酸性粒细胞增多很少报道。1例81岁男性患者2个月前被诊断为脑梗死,在接受氯吡格雷治疗后出现皮疹、发热、喘息和胃部不适入院。根据他的病史,胸部CT和胃镜检查,我们诊断他为氯吡格雷诱导的嗜酸性粒细胞增多综合征。停用氯吡格雷后,嗜酸性粒细胞增多,症状改善。在药物性嗜酸性粒细胞增多的病例中,获得详细的病史是很重要的。
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引用次数: 1
Orthostatic hypotension as an unusual presentation of spinal calcium pyrophosphate deposition disease: case report and review of literature. 直立性低血压是脊柱焦磷酸钙沉积病的一种不寻常的表现:病例报告和文献复习。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-05 Print Date: 2023-12-01 DOI: 10.2478/rjim-2023-0021
Sofia Moura De Azevedo, Rita Carrilho Pichel, Egídio Freitas, Ana Campar, António Marinho, Teresa Mendonça

Calcium pyrophosphate crystal deposition disease (CPPD), also known as pseudogout, with spinal involvement, is associated with clinical manifestations of acute nerve compression or chronic spinal stenosis. Precipitation of crystals of calcium pyrophosphate dihydrate in connective tissues can lead to acute inflammatory arthritis, degenerative chronic arthropathies, and radiographic evidence of cartilage calcification. We present a case of an 87-year-old woman, with unstudied chronic polyarthralgia and symptomatic orthostatic hypotension. It were documented acute calcium pyrophosphate deposition wrist arthritis, and cervical CT and MRI was suggestive of spinal involvement of CPPD. Workup excluded other causes of OH. Surgical approach could be indicated to minimize the symptoms, but it was contra-indicated due to the patient's performance status, so histological diagnosis was not possible. Muscle atrophy played an important part in the rapid progression of this insidious chronic disease. Conservative and symptomatic treatment achieve scarce short-term clinical improvement. Spinal involvement of CPPD was thought to be rare but recent studies show a higher prevalence than expected. We call for attention to the extent of structural changes that may occur when not early diagnosed nor treated. High clinical suspicion is required and this is, to our knowledge, the first report of orthostatic hypotension as a presentation of CPPD.

焦磷酸钙晶体沉积病(CPPD),又称假性out,伴脊柱受累,临床表现为急性神经压迫或慢性椎管狭窄。结缔组织中二水合焦磷酸钙晶体的沉淀可导致急性炎性关节炎、退行性慢性关节病和软骨钙化的影像学证据。我们提出一个病例87岁的妇女,慢性多关节痛和症状性体位性低血压未经研究。急性焦磷酸钙沉积腕部关节炎,颈椎CT和MRI提示CPPD累及脊柱。检查排除了OH的其他原因。手术入路可减轻症状,但由于患者运动状态不佳,无法进行组织学诊断。肌肉萎缩在这种潜伏的慢性疾病的快速发展中起着重要作用。保守和对症治疗在短期内难以取得临床改善。CPPD的脊髓受累被认为是罕见的,但最近的研究显示其患病率高于预期。我们呼吁注意如果不及早诊断和治疗,可能发生的结构变化的程度。需要高度的临床怀疑,据我们所知,这是第一个以CPPD为表现的直立性低血压的报告。
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引用次数: 0
Thrombotic microangiopathy and disseminated intravascular coagulation in a patient with carcinomatosis of the bone marrow due to gastric adenocarcinoma: Case report. 胃腺癌致骨髓癌患者的血栓性微血管病变和弥散性血管内凝血:1例报告。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0015
Gabriel Suarez-Reyes, Kateir Contreras, Fredy Alexander Avila-Almanza, Ana Janeth Salazar-Vargas, Camilo Molineros-Baron, Julian Serrano-Giraldo

Carcinomatosis of the bone marrow is a rare clinical condition characterized by diffuse tumor infiltration of the bone marrow accompanied by hematological abnormalities, including thrombotic microangiopathy (TMA) and disseminated intravascular coagulation (DIC). In patients with gastric carcinoma, this association is infrequent. Below we present a case of a 19-year-old female patient with no known pathological history who presented with upper digestive tract bleeding. Upon examination, anemia and thrombocytopenia were documented, with schistocytes in the peripheral blood smear and prolonged coagulation times. Endoscopic studies indicated a lesion in the Borrmann IV gastric body, and the bone marrow biopsy showed the presence of signet ring cells. Because there was no possibility of systemic therapy, the patient died during hospitalization. This case contributes to the medical literature by describing an unusual presentation of a very frequent pathology.

骨髓癌病是一种罕见的临床疾病,其特征是弥漫性肿瘤浸润骨髓并伴有血液学异常,包括血栓性微血管病(TMA)和弥散性血管内凝血(DIC)。在胃癌患者中,这种关联并不常见。下面我们报告一个19岁的女性患者,没有已知的病理史,她表现为上消化道出血。经检查,贫血和血小板减少的记录,与血吸虫细胞在外周血涂片和延长凝血时间。内镜检查显示Borrmann IV型胃体病变,骨髓活检显示印戒细胞存在。由于无法进行全身治疗,患者在住院期间死亡。这个病例通过描述一个非常常见的病理的不寻常的表现,为医学文献做出了贡献。
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引用次数: 0
Evaluation of Reliability and Validity of the RALE and BRIXIA Chest-X Ray Scores in Patients Hospitalized with COVID-19 Pneumonia. 新型冠状病毒肺炎住院患者RALE和BRIXIA胸片评分信效度评价
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0013
Themistoklis Paraskevas, Platon M Dimopoulos, Anastasios Kantanis, Anna-Sofia Garatzioti, Iosif Karalis, Christos Michailides, Charikleia Chourpiliadi, Evgenia Matthaiakaki, Christina Kalogeropoulou, Dimitrios Velissaris

Introduction: Chest X-rays are commonly used to assess the severity in patients that present in the emergency department with suspected COVID-19 pneumonia, but in clinical practice quantitative scales are rarely employed.

Aims: To evaluate the reliability and validity of two semi-quantitative radiological scales in patients hospitalized for COVID-19 pneumonia (BRIXIA score and RALE score).

Methods: Patients hospitalized between October 2021 and March 2022 with confirmed COVID-19 pneumonia diagnosis were eligible for inclusion. All included patients had a chest X-ray taken in the ED before admission. Three raters that participated in the treatment and management of patients with COVID-19 during the pandemic independently assessed chest X-rays.

Results: Intraclass coefficients for BRIXΙA and RALES was 0.781 (0.729-0.826) and 0.825 (0.781-0.862) respectively, showing good to excellent reliability overall. Pairwise analysis was performed using quadratic weighted kappa showing significant variability in the inter-rater agreement. The prognostic accuracy of the two scores for in-hospital mortality for all raters was between 0.753 and 0.763 for BRIXIA and 0.737 and 0.790 for RALES, demonstrating good to excellent prognostic value. Both radiological scores were significantly associated with inhospital mortality after adjustment for 4C Mortality score. We found a consistent upwards trend with significant differences between severity groups in both radiological scores.

Conclusion: Our findings suggest that BRIXIA and RALES are reliable and can be used to assess the prognosis of patients with COVID-19 requiring hospitalization. However, the inherent subjectivity of radiological scores might make it difficult to set a cut-off value suitable for all assessors.

简介:胸片通常用于评估急诊疑似COVID-19肺炎患者的严重程度,但在临床实践中很少使用定量量表。目的:评价两种半定量放射学量表(BRIXIA评分和RALE评分)在COVID-19肺炎住院患者中的信度和效度。方法:纳入2021年10月至2022年3月住院并确诊为COVID-19肺炎的患者。所有患者在入院前都在急诊科拍过胸部x光片。在大流行期间参与COVID-19患者治疗和管理的三名评分员独立评估胸部x光片。结果:BRIXΙA和RALES的类内系数分别为0.781(0.729-0.826)和0.825(0.781-0.862),总体信度为良至优。两两分析使用二次加权kappa显示显着变异性之间的协议。BRIXIA和RALES两项评分对院内死亡率的预测准确率分别为0.753 ~ 0.763和0.737 ~ 0.790,具有良好至极好的预后价值。调整4C死亡率评分后,两种放射学评分均与住院死亡率显著相关。我们发现严重程度组在两种放射学评分上有显著差异的持续上升趋势。结论:我们的研究结果表明,BRIXIA和RALES是可靠的,可用于评估COVID-19住院患者的预后。然而,放射学评分固有的主观性可能使其难以设定一个适用于所有评估者的临界值。
{"title":"Evaluation of Reliability and Validity of the RALE and BRIXIA Chest-X Ray Scores in Patients Hospitalized with COVID-19 Pneumonia.","authors":"Themistoklis Paraskevas,&nbsp;Platon M Dimopoulos,&nbsp;Anastasios Kantanis,&nbsp;Anna-Sofia Garatzioti,&nbsp;Iosif Karalis,&nbsp;Christos Michailides,&nbsp;Charikleia Chourpiliadi,&nbsp;Evgenia Matthaiakaki,&nbsp;Christina Kalogeropoulou,&nbsp;Dimitrios Velissaris","doi":"10.2478/rjim-2023-0013","DOIUrl":"https://doi.org/10.2478/rjim-2023-0013","url":null,"abstract":"<p><strong>Introduction: </strong>Chest X-rays are commonly used to assess the severity in patients that present in the emergency department with suspected COVID-19 pneumonia, but in clinical practice quantitative scales are rarely employed.</p><p><strong>Aims: </strong>To evaluate the reliability and validity of two semi-quantitative radiological scales in patients hospitalized for COVID-19 pneumonia (BRIXIA score and RALE score).</p><p><strong>Methods: </strong>Patients hospitalized between October 2021 and March 2022 with confirmed COVID-19 pneumonia diagnosis were eligible for inclusion. All included patients had a chest X-ray taken in the ED before admission. Three raters that participated in the treatment and management of patients with COVID-19 during the pandemic independently assessed chest X-rays.</p><p><strong>Results: </strong>Intraclass coefficients for BRIXΙA and RALES was 0.781 (0.729-0.826) and 0.825 (0.781-0.862) respectively, showing good to excellent reliability overall. Pairwise analysis was performed using quadratic weighted kappa showing significant variability in the inter-rater agreement. The prognostic accuracy of the two scores for in-hospital mortality for all raters was between 0.753 and 0.763 for BRIXIA and 0.737 and 0.790 for RALES, demonstrating good to excellent prognostic value. Both radiological scores were significantly associated with inhospital mortality after adjustment for 4C Mortality score. We found a consistent upwards trend with significant differences between severity groups in both radiological scores.</p><p><strong>Conclusion: </strong>Our findings suggest that BRIXIA and RALES are reliable and can be used to assess the prognosis of patients with COVID-19 requiring hospitalization. However, the inherent subjectivity of radiological scores might make it difficult to set a cut-off value suitable for all assessors.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"61 3","pages":"141-146"},"PeriodicalIF":1.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9967568","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
Cardio-Oncology for the Primary Care Provider. 初级保健提供者心脏肿瘤学。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0012
Nikita Jhawar, Alyssa Mcpherson, Razvan Chirila, Jordan Ray

Cardiovascular disease is a major cause of mortality among oncologic patients. As cancer therapies continue to evolve and advance, cancer survival rates have been increasing and so has the burden of cardiovascular disease within this population. For this reason, cardio-oncology plays an important role in promoting multidisciplinary care with the primary care provider, oncology, and cardiology. In this review, we discuss the roles of different providers, strategies to monitor patients receiving cardiotoxic therapies, and summarize cancer therapy class-specific toxicities. Continued collaboration among providers and ongoing research related to cardiotoxic cancer therapies will enable patients to receive maximal, evidence-based, comprehensive care.

心血管疾病是肿瘤患者死亡的主要原因。随着癌症治疗的不断发展和进步,癌症存活率一直在增加,这一人群中心血管疾病的负担也在增加。因此,心脏肿瘤学在促进初级保健提供者、肿瘤学和心脏病学的多学科护理方面发挥着重要作用。在这篇综述中,我们讨论了不同提供者的角色,监测接受心脏毒性治疗的患者的策略,并总结了癌症治疗类别特异性毒性。提供者之间的持续合作和正在进行的与心脏毒性癌症治疗相关的研究将使患者获得最大的,循证的,全面的护理。
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引用次数: 0
Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism. RAN (rs14035)和XPO5 (rs11077)多态性与静脉血栓栓塞的相关性研究
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0014
Khloud M Alquraan, Omar F Khabour

Introduction: Venous thromboembolism (VTE) is the third most common hemostatic disease worldwide. Studies have reported a role for microRNA (miRNA) in the homeostasis and development of VTE. The ras-related nuclear protein (RAN) and exportin 5 (XPO5) genes are involved in miRNA biogenesis, as both regulate the transport of pre-miRNA from the nucleus to the cytoplasm. Therefore, the aim of the current study is to examine the association between RAN (rs14035) and XPO5 (rs11077) single nucleotide polymorphisms (SNPs) and VTE.

Methods: The study sample consisted of 300 subjects (150 patients and 150 age and sex matched controls). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractory mutation system (T-ARMS) techniques were used to genotype rs14035 and rs11077, respectively.

Results: The results showed that there was a significant association between the XPO5 rs11077 and the risk of VTE (P < 0.05). Subjects with AC (OR: 2.08, CI:1.26-3.44) and CC (OR: 1.77, CI: 0.88-3.55) genotypes were at increased risk of the developing VTE. Regarding RAN gene, no association was found between rs14035 and VTE (P > 0.05). In addition, no associations were found between XPO5 rs11077 and RAN rs14035 genotypes with blood cell parameters (P > 0.05). As for the demographic characteristics, the results indicated a strong association between family history and body mass index (BMI) with the risk of VTE (P < 0.01).

Conclusion: The XPO5 rs11077, BMI and family history might contribute to the development of VTE in Jordan.

简介:静脉血栓栓塞(VTE)是世界上第三大最常见的止血疾病。研究报道了microRNA (miRNA)在静脉血栓栓塞的动态平衡和发展中的作用。ras相关核蛋白(RAN)和输出蛋白5 (XPO5)基因参与miRNA的生物发生,它们都调节miRNA前体从细胞核到细胞质的运输。因此,本研究的目的是研究RAN (rs14035)和XPO5 (rs11077)单核苷酸多态性(snp)与VTE之间的关系。方法:研究样本包括300名受试者(150名患者和150名年龄和性别匹配的对照组)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和四引物扩增难突变系统(T-ARMS)技术分别对rs14035和rs11077进行基因分型。结果:XPO5 rs11077与VTE发生风险有显著相关性(P < 0.05)。AC基因型(OR: 2.08, CI:1.26-3.44)和CC基因型(OR: 1.77, CI: 0.88-3.55)的受试者发生静脉血栓栓塞的风险增加。对于RAN基因,rs14035与VTE无相关性(P > 0.05)。此外,XPO5 rs11077和RAN rs14035基因型与血细胞参数无相关性(P > 0.05)。在人口学特征方面,家族史和体重指数(BMI)与血栓栓塞风险有较强的相关性(P < 0.01)。结论:XPO5 rs11077、BMI和家族史可能与约旦VTE的发生有关。
{"title":"Investigation of the association of the <i>RAN</i> (rs14035) and <i>XPO5</i> (rs11077) polymorphisms with venous thromboembolism.","authors":"Khloud M Alquraan,&nbsp;Omar F Khabour","doi":"10.2478/rjim-2023-0014","DOIUrl":"https://doi.org/10.2478/rjim-2023-0014","url":null,"abstract":"<p><strong>Introduction: </strong>Venous thromboembolism (VTE) is the third most common hemostatic disease worldwide. Studies have reported a role for microRNA (miRNA) in the homeostasis and development of VTE. The ras-related nuclear protein (<i>RAN</i>) and exportin 5 (<i>XPO5</i>) genes are involved in miRNA biogenesis, as both regulate the transport of pre-miRNA from the nucleus to the cytoplasm. Therefore, the aim of the current study is to examine the association between <i>RAN</i> (rs14035) and <i>XPO5</i> (rs11077) single nucleotide polymorphisms (SNPs) and VTE.</p><p><strong>Methods: </strong>The study sample consisted of 300 subjects (150 patients and 150 age and sex matched controls). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractory mutation system (T-ARMS) techniques were used to genotype rs14035 and rs11077, respectively.</p><p><strong>Results: </strong>The results showed that there was a significant association between the <i>XPO5</i> rs11077 and the risk of VTE (P < 0.05). Subjects with AC (OR: 2.08, CI:1.26-3.44) and CC (OR: 1.77, CI: 0.88-3.55) genotypes were at increased risk of the developing VTE. Regarding <i>RAN</i> gene, no association was found between rs14035 and VTE (P > 0.05). In addition, no associations were found between <i>XPO5</i> rs11077 and <i>RAN</i> rs14035 genotypes with blood cell parameters (P > 0.05). As for the demographic characteristics, the results indicated a strong association between family history and body mass index (BMI) with the risk of VTE (P < 0.01).</p><p><strong>Conclusion: </strong>The <i>XPO5</i> rs11077, BMI and family history might contribute to the development of VTE in Jordan.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"61 3","pages":"154-162"},"PeriodicalIF":1.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9972983","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
Challenges in the diagnosis of leptomeningeal dissemination of glioblastoma in a patient with fever and xanthochromic CSF: a case report. 发热伴黄色脑脊液的胶质母细胞瘤脑膜播散诊断的挑战:1例报告。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0010
Andrei Neagu, Cristian-Mihail Niculae, Irina Lăpădat, Adriana Hristea

Background: Leptomeningeal spread with carcinomatous meningitis is a severe complication of glioblastoma, with a poor prognosis. Diagnosis is challenging, as the sensitivity of classic diagnostic investigations remains low for detecting cerebrospinal fluid (CSF) tumor spread and exclusion of infectious causes is mandatory, especially if unusual clinical findings are present.

Case presentation: A 71-year-old woman was admitted to our hospital for recurrent episodes of high fever and xanthochromic meningitis, with subacute onset. Her past medical history was significant for a left temporal glioblastoma, treated with surgical resection and adjuvant chemo- and radiotherapy, with associated systemic immunosuppression secondary to chemotherapy. An extensive workup especially with molecular microbiology testing for exclusion of infectious causes was performed. CSF was analyzed for typical bacterial and viral causes, but also pathogens associated with immunosuppression, such as Listeria monocytogenes and Cryptococcus neoformans. A therapeutic trial of standard antituberculous drugs with repeated lumbar punctures were needed in order to exclude Mycobacterium tuberculosis and to confirm the diagnosis of carcinomatous meningitis by cytopathological examination of the CSF.

Conclusions: The case describes an unusual clinical presentation of a patient with glioblastoma associated leptomeningeal dissemination, as high fever and xanthochromic CSF could raise important diagnostic and therapeutic challenges in the clinical practice. The diagnosis of carcinomatous meningitis requires an extensive workup for exclusion of infectious causes which is important for urgent oncologic treatment.

背景:小脑膜扩散伴癌性脑膜炎是胶质母细胞瘤的严重并发症,预后较差。诊断是具有挑战性的,因为传统诊断调查在检测脑脊液(CSF)肿瘤扩散方面的敏感性仍然很低,必须排除感染原因,特别是在出现异常临床表现的情况下。病例介绍:一名71岁妇女因反复发作的高热和黄色脑膜炎而入院,亚急性起病。她的既往病史为左侧颞叶胶质母细胞瘤,接受手术切除和辅助化疗和放疗,化疗后继发全身免疫抑制。进行了广泛的检查,特别是分子微生物检测,以排除感染原因。分析脑脊液的典型细菌和病毒原因,以及与免疫抑制相关的病原体,如单核细胞增生李斯特菌和新型隐球菌。为了排除结核分枝杆菌,并通过脑脊液细胞病理学检查确认癌性脑膜炎的诊断,需要进行标准抗结核药物的治疗试验,并反复腰椎穿刺。结论:该病例描述了一个不寻常的临床表现,患者与胶质母细胞瘤相关的脑脊液播散,高热和黄色脑脊液可能在临床实践中提出重要的诊断和治疗挑战。癌性脑膜炎的诊断需要广泛的检查,以排除感染性原因,这对紧急肿瘤治疗很重要。
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引用次数: 0
The correlation between Body Mass Index and histological features of Nonalcoholic Fatty Liver Disease. 体重指数与非酒精性脂肪性肝病组织学特征的相关性
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-01 DOI: 10.2478/rjim-2023-0011
Ana Calin-Necula, Vlad Enciu, Priscila Ologeanu, Alexandru Constantin Moldoveanu, Carmen Fierbinteanu Braticevici

Introduction: NAFLD is strongly associated with metabolic syndrome, and for many years, fatty liver was an exclusive feature of obese patients. The study tries to assess whether the body mass index (BMI) and body circumference is correlated to steatosis, fibrosis, or inflammatory activity of the liver. Methods: 81 patients with recent hepatic biopsy were included in the study and were weighed and measured. The biopsy results were compared to the measurements. Results: The average BMI overall for the whole lot was 30.16. There was a significant difference in BMI across the inflammatory activity categories (p = 0.009): groups with higher necro inflammatory activity tended to have higher BMI values (average values per grade: 0-28, 1-29, 2-33, 3-32, 4-29). There was no significant difference for grades of steatosis (p = 0.871). With regards to waist circumference, the overall average was 90.70cm/35.70in. There was a significant difference across the steatosis categories (p < 0.001): groups with higher steatosis scores had higher waist circumferences (average values per grade: 1-77cm / 30 in, 2-95 cm / 37 in, 3-94 cm / 37 in). There was no significant difference for grades of activity (p = 0.058). Conclusion: BMI and waist circumference are easy to measure, non-invasive parameters, which could be useful in screening patients at higher risk for necro inflammatory activity or severe steatosis.

NAFLD与代谢综合征密切相关,多年来,脂肪肝是肥胖患者的独有特征。该研究试图评估身体质量指数(BMI)和身体周长是否与脂肪变性、纤维化或肝脏炎症活动相关。方法:对81例近期肝活检患者进行称重和测量。将活检结果与测量结果进行比较。结果:全体患者的平均BMI为30.16。不同炎症活动度组的BMI差异有统计学意义(p = 0.009):坏死炎症活动度较高的组BMI值也较高(各级别平均值:0-28、1-29、2-33、3-32、4-29)。两组脂肪变性程度差异无统计学意义(p = 0.871)。腰围方面,整体平均为90.70厘米/35.70英寸。脂肪变性类别之间存在显著差异(p < 0.001):脂肪变性评分较高的组腰围较高(每个级别的平均值:1-77厘米/ 30英寸,2-95厘米/ 37英寸,3-94厘米/ 37英寸)。两组的活动等级差异无统计学意义(p = 0.058)。结论:BMI和腰围是一种易于测量、无创的参数,可用于筛选坏死性炎症活动或严重脂肪变性的高危患者。
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Romanian Journal of Internal Medicine
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