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External validation of the 4C Mortality Score and PRIEST COVID-19 Clinical Severity Score in patients hospitalized with COVID-19 pneumonia in Greece. 希腊住院COVID-19肺炎患者4C死亡率评分和PRIEST COVID-19临床严重程度评分的外部验证
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-11-23 Print Date: 2022-12-01 DOI: 10.2478/rjim-2022-0015
Themistoklis Paraskevas, Christos Michailides, Iosif Karalis, Anastasios Kantanis, Charikleia Chourpiliadi, Evgenia Matthaiakaki, Markos Marangos, Dimitrios Velissaris

Background: Prognostic scores can be used to facilitate better management of patients suffering from life-threatening diseases, provided that they have been tested in the population of interest. Aim: To perform external validation of the 4C Mortality Score and PRIEST COVID-19 Clinical Severity Score. Study Design: Prospective observational Study. Methods: Patients hospitalized with COVID-19 pneumonia in a tertiary hospital in Greece were enrolled in the study. The prognostic scores were calculated based on hospital admission data and ROC curve analysis was performed. We assessed a composite outcome of either in-hospital death or need for invasive ventilation. Results: Both 4C and PRIEST scores showed good discriminative ability with an AUC value of 0.826 (CI 95%: 0.765-0.887) and 0.852 (CI 95%: 0.793-0.910) respectively. Based on the Youden Index the optimal cut-off for the 4C score was 11 (Sensitivity 75%, Specificity 75.5%) and 10 for the PRIEST score (Sensitivity 83% and Specificity 69.4%). Calibration was adequate for both scores, except for the low and very high risk groups in the PRIEST score. Conclusion: The 4C Mortality Score and PRIEST COVID-19 Clinical Severity Score can be used for early identification of patients with poor prognosis in a Greek population cohort hospitalized with COVID-19.

背景:预后评分可用于促进对患有危及生命疾病的患者进行更好的管理,前提是它们已在感兴趣的人群中进行了测试。目的:对4C死亡率评分和PRIEST COVID-19临床严重程度评分进行外部验证。研究设计:前瞻性观察性研究。方法:选取希腊某三级医院新冠肺炎住院患者为研究对象。根据入院资料计算预后评分,并进行ROC曲线分析。我们评估了院内死亡或需要有创通气的综合结果。结果:4C和PRIEST评分均表现出较好的判别能力,AUC值分别为0.826 (CI 95%: 0.765 ~ 0.887)和0.852 (CI 95%: 0.793 ~ 0.910)。基于约登指数,4C评分的最佳临界值为11(敏感性75%,特异性75.5%),而PRIEST评分的最佳临界值为10(敏感性83%,特异性69.4%)。除了PRIEST评分中的低风险组和非常高风险组外,两个评分的校准都是适当的。结论:4C死亡率评分和PRIEST COVID-19临床严重程度评分可用于希腊新冠肺炎住院人群预后不良患者的早期识别。
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引用次数: 1
Comparison of scoring systems for predicting remission of type 2 diabetes in sleeve gastrectomy patients. 预测袖式胃切除术患者2型糖尿病缓解的评分系统比较。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-11-23 Print Date: 2022-12-01 DOI: 10.2478/rjim-2022-0016
Suleyman Baldane, Murat Celik, Muslu Kazim Korez, Emine Gul Baldane, Huseyin Yilmaz, Sedat Abusoglu, Levent Kebapcilar, Husnu Alptekin

Introduction: This study aims to compare the predictive capacity of ABCD, DiaRem2, Ad-DiaRem, and DiaBetter scoring systems for type 2 diabetes mellitus (T2DM) remission in Turkish adult morbidly obese patients who underwent SG. Methods: This retrospective cohort study included 80 patients who underwent sleeve gastrectomy (SG) operation who were diagnosed with T2DM preoperatively, and had at least one-year follow-up after surgery. Because bariatric surgery is performed on patients with class III obesity (BMI ≥ 40 kg/m2) or class II obesity (BMI ≥ 35 kg/m2) with obesity releated comorbid conditions in our hospital, our study cohort consisted of these patients. Results: The diagnostic performance of the DiaBetter, DiaRem2, Ad-DiaRem and ABCD for identifying diabetes remission, assessed by the AUC was 0.882 (95% CI, 0.807-0.958, p < 0.001), 0.862 (95% CI, 0.779-0.945, p < 0.001), 0.849 (95% CI, 0.766-0.932, p < 0.001) and 0.726 (95% CI, 0.601-0.851, p = 0.002), respectively. The AUCs of the Ad-Diarem, DiaBetter and DiaRem2 were statistically higher than AUC of the ABCD (all p-value < 0.001). Besides, there was no statistically significant difference in AUCs of the Ad-Diarem, DiaBetter and DiaRem scores (all p-value > 0.05). Conclusion: Ad-Dairem, DiaBetter and DaiRem scoring systems were found to provide a successful prediction for diabetes remission in sleeve gastrectomy patients. It was observed that the predictive power of the ABCD scoring system was lower than the other systems. We think that the use of scoring systems for diabetes remission, which have a simple use, will become widespread.

简介:本研究旨在比较ABCD、DiaRem2、Ad-DiaRem和糖尿病评分系统对接受SG治疗的土耳其成年病态肥胖患者2型糖尿病(T2DM)缓解的预测能力。方法:本回顾性队列研究纳入80例术前诊断为T2DM的袖胃切除术患者,术后随访1年以上。由于我院对伴有肥胖相关合并症的III级肥胖(BMI≥40 kg/m2)或II级肥胖(BMI≥35 kg/m2)患者进行了减肥手术,因此我们的研究队列由这些患者组成。结果:diabter、DiaRem2、Ad-DiaRem和ABCD诊断糖尿病缓解的AUC分别为0.882 (95% CI, 0.807 ~ 0.958, p < 0.001)、0.862 (95% CI, 0.779 ~ 0.945, p < 0.001)、0.849 (95% CI, 0.766 ~ 0.932, p < 0.001)和0.726 (95% CI, 0.601 ~ 0.851, p = 0.002)。Ad-Diarem、diabetes、DiaRem2的AUC均高于ABCD的AUC (p值均< 0.001)。Ad-Diarem、diabetes、DiaRem评分的auc比较,差异均无统计学意义(p值均> 0.05)。结论:Ad-Dairem、diabetes和DaiRem评分系统可成功预测袖胃切除术患者的糖尿病缓解。观察到ABCD评分系统的预测能力低于其他评分系统。我们认为,使用简单易行的糖尿病缓解评分系统将得到广泛应用。
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引用次数: 0
Association between serum midkine levels and tumor size in Indonesian hepatocellular carcinoma patients: a cross-sectional study. 印度尼西亚肝细胞癌患者血清midkine水平与肿瘤大小之间的关系:一项横断面研究。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-11-23 Print Date: 2022-12-01 DOI: 10.2478/rjim-2022-0014
Darmadi Darmadi, Riska Habriel Ruslie, Cennikon Pakpahan

Background: The incidence of liver cancer is increased worldwide with 75%-85% diagnosed as hepatocellular carcinoma (HCC). Current practice has low sensitivity limitations to diagnose the early stages of HCC, thus urging the need for a biomarker with higher sensitivity to detect HCC, specifically in the early stage. This study aimed to determine the association between midkine levels and progressiveness of hepatocellular carcinoma (HCC), according to tumor size, Barcelona Clinic Liver Cancer (BCLC), and presence of portal venous thrombosis. Methods: This cross-sectional study involved 100 patients in Adam Malik General Hospital diagnosed with HCC, collected with a consecutive sampling method, whose diagnoses were confirmed by findings of hypervascular on arterial phase imaging and portal vein or delayed phase washout triple-phase CT Scan. Samples are later categorized according to Barcelona Clinic Liver Cancer (BCLC) stages, tumor size, and presence of portal venous thrombosis. Blood samples were drawn to measure serum midkine using ELISA. Kruskal-Wallis and Mann-Whitney U tests were conducted to determine the difference of midkine levels based on tumor size, BCLC staging, and presence of portal venous thrombosis. Results: Serum midkine level shows a significant difference over tumor size (p=0.014), no significant difference found compared to BCLC stages and presence of portal venous thrombosis. Conclusion: Serum midkine levels are associated with the tumor size of HCC, thus helping physicians determine treatment plans.

背景:肝癌的发病率在全球范围内呈上升趋势,其中75%-85%诊断为肝细胞癌(HCC)。目前的实践对早期HCC的诊断存在低灵敏度的限制,因此迫切需要更高灵敏度的生物标志物来检测HCC,特别是在早期。本研究旨在根据肿瘤大小、巴塞罗那临床肝癌(BCLC)和门静脉血栓形成情况,确定midkine水平与肝细胞癌(HCC)进展之间的关系。方法:本横断面研究纳入亚当马利克总医院诊断为HCC的100例患者,采用连续抽样的方法,通过动脉期成像和门静脉或延迟期冲洗三期CT扫描发现血管增生证实诊断。样本随后根据巴塞罗那诊所肝癌(BCLC)分期、肿瘤大小和是否存在门静脉血栓进行分类。抽取血样,采用ELISA法测定血清midkine。采用Kruskal-Wallis和Mann-Whitney U试验来确定基于肿瘤大小、BCLC分期和门静脉血栓形成的midkine水平的差异。结果:血清midkine水平与肿瘤大小有显著性差异(p=0.014),与BCLC分期及是否存在门静脉血栓无显著性差异。结论:血清midkine水平与肝癌肿瘤大小有关,有助于医生确定治疗方案。
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引用次数: 1
Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad. 表现为亚急性脊髓合并变性的自身免疫性多腺综合征II型:神经内分泌学的十字路口
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2021-0038
Prateek Bapat, Suman Kushwaha, Chirag Gupta, R Kirangowda, Vaibhav Seth

Introduction: Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. The basic pathophysiology of this syndrome revolves around autoimmunity.Case presentation: We discuss the case of a 50-year-old gentleman who presented to us in emergency with subacute onset progressive weakness of both lower limbs followed by upper limbs. On examination, patient was confused and disoriented. General examination findings include hypotension, pallor, facial puffiness and vitiligo. Neurological examination revealed spasticity and motor weakness in all four limbs with extensor planter response. Sensory examination during hospital course revealed posterior column involvement. Laboratory and radiological investigations confirmed subacute combined degeneration of spinal cord secondary to pernicious anaemia, Addison's disease and autoimmune thyroid disease. The final diagnosis of autoimmune polyglandular syndrome type II was made after fulfilment of the required criteria.Conclusion: Autoimmune polyglandular syndrome type II can rarely present to neurologist as subacute combined degeneration of spinal cord. This syndrome and its systemic association should be kept in mind in order to reach the final diagnosis.

自身免疫性多腺综合征(APS)是一种多发性内分泌异常的疾病。根据各种内分泌疾病的参与情况分为三种类型。它还与其他系统性参与有关。这种综合征的基本病理生理学与自身免疫有关。病例介绍:我们讨论的情况下,一位50岁的绅士谁向我们提出了紧急亚急性发作进行性无力的双下肢随后上肢。检查时,病人神志不清,没有方向感。一般检查结果包括低血压、脸色苍白、面部浮肿和白癜风。神经学检查显示四肢痉挛和运动无力,并伴有伸肌种植反应。住院期间感觉检查发现后柱受累。实验室和放射检查证实继发于恶性贫血、阿狄森氏病和自身免疫性甲状腺疾病的脊髓亚急性合并变性。自身免疫性多腺综合征II型的最终诊断是在满足要求标准后做出的。结论:自身免疫性多腺综合征II型很少以亚急性脊髓合并变性的形式出现在神经科医生面前。为了达到最终诊断,应牢记这种综合征及其系统性关联。
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引用次数: 2
Systematic approach to celiac disease: a comprehensive review for primary providers. 乳糜泻的系统方法:对主要提供者的全面回顾。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2022-0002
Pedro Cortés, Dana M Harris, Yan Bi

Celiac disease is an immune-mediated illness to gluten exposure in genetically susceptible patients. It is characterized by chronic lymphocytic inflammation of the small bowel leading to villous atrophy and its associated complications. The global prevalence of celiac disease is increasing, due in part to improved screening tests and simplified diagnostic criteria. Novel therapies are being developed and include proteolytic enzymes, sequestering agents, and immunotherapies. A strict gluten-free diet, however, remains the mainstay of treatment. In this comprehensive review, we discuss the epidemiology, definitions, diagnosis, and treatment of celiac disease.

乳糜泻是一种免疫介导的疾病,在遗传易感患者接触麸质。它的特点是小肠慢性淋巴细胞炎症导致绒毛萎缩及其相关并发症。乳糜泻的全球患病率正在上升,部分原因是筛查试验的改进和诊断标准的简化。新的治疗方法正在开发,包括蛋白水解酶、隔离剂和免疫疗法。然而,严格的无麸质饮食仍然是治疗的主要方法。在这篇全面的综述中,我们讨论了乳糜泻的流行病学、定义、诊断和治疗。
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引用次数: 2
Peculiar encounter of sarcoidosis and solid pseudopapillary tumor of the pancreas. 胰腺结节病和实性假乳头状瘤的特殊相遇。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2022-0001
Claudia Cobilinschi, Cristian Cobilinschi, Iuliana Trifan, Constantin-Ioan Busuioc, Ruxandra Ionescu, Daniela Opriş-Belinski

Objective: Current literature indicates a connection between sarcoidosis and malignancy, prompting advanced screening in uncertain cases. Solid pseudopapillary tumors (SPT) of the pancreas are rare entities that can be confirmed by adding imaging results to immunohistochemistry staining. The aim of this article is to describe a rare association of sarcoidosis and SPT.Materials and methods: Case report.Results: A young female patient with no prior medical history presents with shortness of breath and fatigue. The diagnosis of pulmonary and hepatic sarcoidosis is placed upon laboratory and radiographic changes. Intermittent abdominal pain prompts an MRI that shows the presence of a tumoral mass in the tail of the pancreas. Surgical resection of the mass is performed and histological examination indicates a SPT, subsequently confirmed by immunohistochemistry.Conclusion: This is the third reported case of concomitant sarcoidosis and solid pseudopapillary tumor of the pancreas.

目的:目前的文献表明结节病与恶性肿瘤之间存在联系,提示在不确定的病例中进行早期筛查。胰腺的实性假乳头状肿瘤(SPT)是罕见的实体,可以通过免疫组织化学染色的影像结果来证实。本文的目的是描述结节病和SPT的罕见关联。材料与方法:病例报告。结果:一名年轻女性患者,无既往病史,表现为呼吸短促和疲劳。肺和肝结节病的诊断取决于实验室和影像学的改变。间歇性腹痛提示MRI显示胰腺尾部有肿瘤肿块。手术切除肿块,组织学检查显示SPT,随后免疫组织化学证实。结论:这是报告的第三例胰腺结节病合并实性假乳头状瘤。
{"title":"Peculiar encounter of sarcoidosis and solid pseudopapillary tumor of the pancreas.","authors":"Claudia Cobilinschi,&nbsp;Cristian Cobilinschi,&nbsp;Iuliana Trifan,&nbsp;Constantin-Ioan Busuioc,&nbsp;Ruxandra Ionescu,&nbsp;Daniela Opriş-Belinski","doi":"10.2478/rjim-2022-0001","DOIUrl":"https://doi.org/10.2478/rjim-2022-0001","url":null,"abstract":"<p><p><b>Objective:</b> Current literature indicates a connection between sarcoidosis and malignancy, prompting advanced screening in uncertain cases. Solid pseudopapillary tumors (SPT) of the pancreas are rare entities that can be confirmed by adding imaging results to immunohistochemistry staining. The aim of this article is to describe a rare association of sarcoidosis and SPT.<b>Materials and methods:</b> Case report.<b>Results</b>: A young female patient with no prior medical history presents with shortness of breath and fatigue. The diagnosis of pulmonary and hepatic sarcoidosis is placed upon laboratory and radiographic changes. Intermittent abdominal pain prompts an MRI that shows the presence of a tumoral mass in the tail of the pancreas. Surgical resection of the mass is performed and histological examination indicates a SPT, subsequently confirmed by immunohistochemistry.<b>Conclusion:</b> This is the third reported case of concomitant sarcoidosis and solid pseudopapillary tumor of the pancreas.</p>","PeriodicalId":21463,"journal":{"name":"Romanian Journal of Internal Medicine","volume":"60 2","pages":"132-137"},"PeriodicalIF":1.9,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39855096","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
Anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis caused by bacterial organizing pneumonia in a patient with Sjogren's syndrome. 抗环瓜氨酸肽抗体阳性的类风湿关节炎由细菌性肺炎引起的干燥综合征患者。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2022-0003
Taro Horino, Mitsuharu Yoshida, Satoshi Inotani, Kazuki Anabuki, Hiroshi Ohnishi, Masahiro Komori, Osamu Ichii, Yoshio Terada

A 58-year-old woman with a history of Sjogren's syndrome was admitted to our hospital with cough, decreased right lung breath sounds and arthralgia in both thumbs. Chest computed tomography showed consolidation with air bronchogram in the right lung. Levels of anti-cyclic citrullinated peptide antibody and rheumatoid factor levels were significantly elevated. She was diagnosed with rheumatoid arthritis induced by bacterial organizing pneumonia. Treatment with salazosulfapyridine was added for rheumatoid arthritis and arthralgia gradually improved. This case highlights that respiratory infections could lead to anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis in patients with Sjogren's syndrome.

一名58岁女性,有干燥综合征病史,因咳嗽、右肺呼吸音减少和双拇指关节痛入院。胸部电脑断层显示右肺实变伴支气管充气征。抗环瓜氨酸肽抗体水平和类风湿因子水平显著升高。她被诊断为细菌性组织肺炎引起的类风湿关节炎。类风湿关节炎加用萨拉唑磺胺吡啶治疗,关节痛逐渐好转。本病例强调呼吸道感染可导致干燥综合征患者出现抗环瓜氨酸肽抗体阳性的类风湿关节炎。
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引用次数: 1
Serum uric acid as a predictor of cardio- and cerebro-vascular diseases in maintenance hemodialysis patients. 血清尿酸作为维持性血液透析患者心脑血管疾病的预测因子。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2021-0039
Najmeh Khodabandeh, Elahe Taziki, Toktam Alirezaei

Background: Hyperuricemia is associated with an increased risk of cardio-and cerebrovascular disease (CVD) in general population. However, in the hemodialysis (HD) patients, low serum uric acid (SUA) increases the risk of mortality. Considering that CVD is the principal cause of death among maintenance HD patients, the present study aimed to determine the predictive value of SUA for CVD outcome in this population.Methods: In this two-year follow-up prospective study, 205 outpatients under maintenance HD were enrolled from March 2017 to 2020. Patients' demographic data, underlying diseases, and the results of serum tests, as well as two-year follow-up results of CVD events and mortality were recorded.Results: A total of 130 (63%) patients were eligible for analysis; 62.9% were male; mean age of participants was 59±13years. At follow-up, coronary artery disease was observed in 43.2%, peripheral artery disease in 26.5%, and cerebrovascular disease in 20.5%; angiography was required in 52.3% and 4.5% died of CVD. SUA was ≤5.4 mg/dL in 52 patients, 5.5-6.1 mg/dL in 19, and ≥6.2 mg/dL in 59 patients with significant difference based on mean age, sex distribution, occurrence of cerebrovascular disease and cardiovascular mortality (P<0.05). Patients with cerebrovascular disease had a significantly lower SUA levels (P=0.006). Logistic regression showed the significant effect of SUA on the occurrence of cerebrovascular disease (P=0.008).Conclusion: Low SUA can predict two-year incidence of cerebrovascular disease in HD patients. However, SUA levels did not show significant predictive effect on two-year coronary events, peripheral artery disease and cardiovascular mortality.

背景:在普通人群中,高尿酸血症与心脑血管疾病(CVD)的风险增加有关。然而,在血液透析(HD)患者中,低血清尿酸(SUA)增加了死亡的风险。考虑到心血管疾病是维持性HD患者的主要死亡原因,本研究旨在确定SUA对该人群心血管疾病结局的预测价值。方法:在这项为期两年的随访前瞻性研究中,从2017年3月至2020年,纳入205例维持性HD门诊患者。记录患者的人口统计数据、基础疾病、血清测试结果以及心血管疾病事件和死亡率的两年随访结果。结果:共有130例(63%)患者符合分析条件;男性占62.9%;参与者平均年龄59±13岁。随访时,冠状动脉疾病43.2%,外周动脉疾病26.5%,脑血管疾病20.5%;52.3%的患者需要血管造影,4.5%的患者死于心血管疾病。52例患者SUA≤5.4 mg/dL, 19例患者5.5-6.1 mg/dL, 59例患者SUA≥6.2 mg/dL,在平均年龄、性别分布、脑血管疾病发生及心血管病死率等方面存在显著差异(结论:低SUA可预测HD患者2年脑血管疾病的发病率)。然而,SUA水平对两年冠状动脉事件、外周动脉疾病和心血管死亡率没有显著的预测作用。
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引用次数: 0
COVID-19: a trigger for severe thrombotic microangiopathy in a patient with complement gene variant. COVID-19:补体基因变异患者严重血栓性微血管病变的触发因素
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2021-0040
Larisa Pinte, Bogdan Marian Sorohan, Zoltán Prohászka, Mihaela Gherghiceanu, Cristian Băicuş

The evidence regarding thrombotic microangiopathy (TMA) related to Coronavirus Infectious Disease 2019 (COVID-19) in patients with complement gene mutations as a cause of acute kidney injury (AKI) are limited. We presented the case of a 23-year-old male patient admitted with an asymptomatic form of COVID-19, but with uncontrolled hypertension and AKI. Kidney biopsy showed severe lesions of TMA. In evolution patient had persistent microangiopathic hemolytic anemia, decreased level of haptoglobin and increased LDH level. Decreased complement C3 level and the presence of schistocytes were found for the first time after biopsy. Kidney function progressively decreased and the patient remained hemodialysis dependent. Complement work-up showed a heterozygous variant with unknown significance in complement factor I (CFI) c.-13G>A, affecting the 5' UTR region of the gene. In addition, the patient was found to be heterozygous for the complement factor H (CFH) H3 haplotype (involving the rare alleles of c.-331C>T, Q672Q and E936D polymorphisms) reported as a risk factor of atypical hemolytic uremic syndrome. This case of AKI associated with severe TMA and secondary hemolytic uremic syndrome highlights the importance of genetic risk modifiers in the alternative pathway dysregulation of the complement in the setting of COVID-19, even in asymptomatic forms.

补体基因突变患者中与2019冠状病毒传染病(COVID-19)相关的血栓性微血管病变(TMA)作为急性肾损伤(AKI)原因的证据有限。我们报告了一例23岁的男性患者,入院时患有无症状的COVID-19,但高血压和AKI未得到控制。肾活检显示严重的TMA病变。演进过程中患者有持续性微血管病变性溶血性贫血,触珠蛋白水平降低,LDH水平升高。活检后首次发现补体C3水平降低,存在血吸虫细胞。肾功能逐渐下降,患者仍然依赖血液透析。补体检查显示补体因子I (CFI) c - 13g > a的杂合变异,影响基因的5' UTR区域,意义未知。此外,该患者被发现为补体因子H (CFH) H3单倍型杂合(涉及c - 331c >T, Q672Q和E936D多态性的罕见等位基因),这是报道的非典型溶血性尿毒症综合征的危险因素。本例AKI合并严重TMA和继发性溶血性尿毒症综合征,突出了遗传风险修饰因子在COVID-19背景下补体替代途径失调中的重要性,即使在无症状形式中也是如此。
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引用次数: 8
Acute myelogenous leukemia - current recommendations and approaches in molecular-genetic assessment. 急性髓性白血病-分子遗传学评估的当前建议和方法。
IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-14 Print Date: 2022-06-01 DOI: 10.2478/rjim-2022-0004
Dinnar Yahya, Mari Hachmeriyan, Ilina Micheva, Trifon Chervenkov

Acute myelogenous leukemia is a multi-step hematological malignancy, affecting function, growth, proliferation and cell cycle of myeloid precursors. Overall assessment of patients with the disease requires among everything else, a comprehensive investigation of the genetic basis through various methods such as cytogenetic and molecular-genetic ones. This clarification provides diagnostic refinement and carries prognostic and predictive value in respect of essential therapeutic choices.With this review of the literature, we focus on summarizing the latest recommendations and preferred genetic methods, as well as on emphasizing on their general benefits and limitations. Since none of these methods is actually totipotent, we also aim to shed light over the often-difficult choice of appropriate genetic analyses.

急性髓性白血病是一种多步骤的血液系统恶性肿瘤,影响骨髓前体细胞的功能、生长、增殖和细胞周期。对患者进行全面评估,首先需要通过细胞遗传学和分子遗传学等多种方法对遗传基础进行全面调查。这种澄清提供了诊断的精细化,并在基本治疗选择方面具有预后和预测价值。通过对文献的回顾,我们重点总结了最新的推荐和首选的遗传方法,并强调了它们的一般优点和局限性。由于这些方法中没有一种是全能的,我们还旨在阐明通常很难选择适当的基因分析。
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引用次数: 1
期刊
Romanian Journal of Internal Medicine
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