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Conversion of Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma to Angioimmunoblastic T-cell Lymphoma: a Rare Case. 慢性淋巴细胞白血病/小淋巴细胞淋巴瘤向血管免疫母细胞t细胞淋巴瘤转化一例罕见病例。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2025-01-01 DOI: 10.7754/Clin.Lab.2024.240743
Hongjuan Yu, Xuefen Qi, Jifei Zhang, Lingrong He

Background: Angioimmunoblastic T-cell lymphoma (AITL) is a distinct subtype of peripheral T-cell lymphoma (PTCL) and accounts for 2% of all non-Hodgkin lymphomas. Its typical characteristics include an aggressive course, progressive lymphadenopathy, hepatosplenomegaly, systemic symptoms, anemia, hypergammaglobulinemia, and generally poor prognosis.

Methods: We describe a rare case in which the left inguinal lymph node was completely excised and biopsied one year ago. Based on histomorphology and immunohistochemistry, B-cell small lymphocytic lymphoma (CLL/SLL) was diagnosed. Routine bone marrow examination indicated the presence of immature lymphocytes; however, immunophenotyping showed no significant abnormal lymphocytes. One month ago, the patient developed swelling in the left lower limb, which gradually worsened. A fine-needle aspiration biopsy of the left inguinal lymph node revealed angioimmunoblastic T-cell lymphoma.

Results: The final diagnosis for this patient is a transformation from B-cell small lymphocytic lymphoma to angioimmunoblastic T-cell lymphoma (AITL) one year after the initial diagnosis.

Conclusions: In this report, we present a rare case of AITL. The aim is to enhance awareness among readers regarding the clinical, immunological, and phenotypic characteristics of various forms of AITL.

背景:血管免疫母细胞t细胞淋巴瘤(AITL)是外周t细胞淋巴瘤(PTCL)的一种独特亚型,占所有非霍奇金淋巴瘤的2%。其典型特征包括病程侵袭性、进行性淋巴结病变、肝脾肿大、全身性症状、贫血、高γ球蛋白血症和一般预后不良。方法:我们描述了一个罕见的情况下,左侧腹股沟淋巴结完全切除和活检一年前。根据组织形态学和免疫组织化学,诊断为b细胞小淋巴细胞淋巴瘤(CLL/SLL)。常规骨髓检查提示存在未成熟淋巴细胞;免疫表型分析未见明显淋巴细胞异常。1个月前,患者左下肢出现肿胀,并逐渐加重。左侧腹股沟淋巴结细针穿刺活检显示血管免疫母细胞t细胞淋巴瘤。结果:该患者的最终诊断为b细胞小淋巴细胞淋巴瘤向血管免疫母细胞t细胞淋巴瘤(AITL)转变,最初诊断一年。结论:在本报告中,我们报告了一例罕见的AITL病例。目的是提高读者对各种形式的AITL的临床、免疫学和表型特征的认识。
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引用次数: 0
Verification and Implementation of a Bovine Chromogenic Factor VIII Assay for Hemophilia A Patients on Emicizumab Therapy. Emicizumab治疗的血友病a患者的牛显色因子VIII检测的验证和实施。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240521
Tlangelani V Masia, Susan Louw

Backround: Patients with hemophilia A can develop inhibitors to factor concentrates. Emicizumab, a nonfactor-based therapy, has efficacy despite inhibitors. FVIII activity assessment on emicizumab treatment requires a bovine chromogenic reagent such as TriniCHROM FVIII:C.

Methods: FVIII levels were measured in 15 patients with and 35 without hemophilia and 10 patients on emicizumab therapy with a time-to-clot and the TriniCHROM FVIII:C reagents. FVIII inhibitor levels were also determined with both reagents.

Results: Acceptable agreement of FVIII and FVIII inhibitor levels were obtained with the 2 reagents (R² = 0.92 and 0.96, respectively) in patients not exposed to emicizumab. The time-to-clot FVIII assay overestimated FVIII levels in patients on emicizumab therapy. The chromogenic FVIII assay delivered accurate endogenous FVIII levels in patients on emicizumab therapy.

Conclusions: The TriniCHROM FVIII:C assay is compatible with routine automated coagulation analysers and delivers accurate FVIII and FVIII inhibitor levels.

背景:A型血友病患者可产生因子浓缩物抑制剂。Emicizumab是一种非因子治疗,尽管有抑制剂,但仍有疗效。对半蜜单抗治疗的FVIII活性评估需要牛显色试剂,如TriniCHROM FVIII:C。方法:对15例血友病患者和35例非血友病患者以及10例接受emicizumab治疗的患者进行FVIII水平检测,这些患者采用了血栓形成时间和TriniCHROM FVIII:C试剂。同时用两种试剂测定FVIII抑制剂水平。结果:在未暴露于emicizumab的患者中,这两种试剂获得了FVIII和FVIII抑制剂水平的可接受一致性(R²分别= 0.92和0.96)。到凝块时间FVIII测定过高估计了接受emicizumab治疗的患者的FVIII水平。显色FVIII检测在接受emicizumab治疗的患者中提供准确的内源性FVIII水平。结论:TriniCHROM FVIII:C检测与常规自动凝血分析仪兼容,并提供准确的FVIII和FVIII抑制剂水平。
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引用次数: 0
Performance Evaluation of a Coagulation Laboratory Using Sigma Metrics and Quality Goal Index. 用西格玛指标和质量目标指标评价凝血实验室的性能。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240619
Yasemin Erdogan-Doventas, Esma Ozdemir-Anayurt, Hatice Erdogan, Pelin Kulan, Macit Koldas

Background: Sigma methodology is a statistical calculation and quality management tool that provides information about process performance. If clinical laboratories start using sigma metrics to monitor their performance, they can more easily identify gaps in their performance, thereby improve their performance and patient safety. This study aimed to calculate sigma metrics and quality target index values by using internal quality control data from coagulation tests, thus evaluating the analytical performance.

Methods: Sigma levels were calculated using the formula: [total allowable error (TEa) - bias]/coefficient of variation (CV). Sigma values ≥ 6, between 3 and 6, and < 3 were classified as "world-class", "good" or "unacceptable", respectively. A biological variation database (BVD) was used for TEa. The quality goal index (QGI) is the reason behind a low sigma value, that is, lower precision, lower accuracy, or both due to the combination. QGI was calcu-lated using the formula QGI = bias/1.5 x % CV. With a QGI value of < 0.8, the measurement indicates that the accuracy of the procedure needs to be improved; QGI values > 1.2 indicate accuracy needs to be improved and values 0.8 ≤ QGI ≤ 1.2 indicate both precision and accuracy need to be improved.

Results: Sigma and QGI of three-monthly two-level internal quality control values were calculated by using the laboratory automation system. In the prothrombin time (PT) and activated partial thromboplastin time (APTT) tests of the coagulation parameters studied, sigma values were found to be < 3 in both levels. When the QGI value was calculated, it was PT 0.45 and APTT 0.90 for level 1 and PT 0.16 and APTT 0.6 for level 2, respectively.

Conclusions: It was decided that sigma values of coagulation parameters at "low quality" levels and improvement studies should be carried out for coagulation parameters in our laboratory. By evaluating sigma levels, it is possible to identify tests with a high probability of failure, and these tests should undergo strict quality control inspections. In clinical biochemistry laboratories, appropriate quality control planning should be performed for each test by using the Six Sigma methodology and by calculating the quality target index.

背景:西格玛方法是一种统计计算和质量管理工具,提供有关过程性能的信息。如果临床实验室开始使用sigma指标来监控他们的表现,他们可以更容易地发现他们表现中的差距,从而提高他们的表现和患者安全。本研究旨在利用凝血试验的内部质控数据计算sigma指标和质量目标指标值,从而评价分析性能。方法:采用公式[总允许误差(TEa) -偏差]/变异系数(CV)计算西格玛水平。Sigma值≥6、介于3 ~ 6之间、< 3分别为“世界级”、“良好”和“不可接受”。TEa采用生物变异数据库(biological variation database, BVD)。质量目标指数(QGI)是西格玛值低的原因,即精度低、准确度低,或两者兼而有之。QGI的计算公式为:QGI = bias/1.5 x % CV。当QGI值< 0.8时,表明该方法的准确性有待提高;QGI值> 1.2表示精度有待提高,0.8≤QGI≤1.2表示精度和精度均有待提高。结果:利用实验室自动化系统计算了3个月两级内部质控值的Sigma和QGI。在凝血参数的凝血酶原时间(PT)和活化部分凝血活酶时间(APTT)试验中,两个水平的sigma值均< 3。计算QGI值时,水平1为PT 0.45和APTT 0.90,水平2为PT 0.16和APTT 0.6。结论:本实验室凝血参数sigma值处于“低质量”水平,需要开展凝血参数的改进研究。通过评估西格玛水平,可以识别出高失败概率的测试,并且这些测试应该经过严格的质量控制检查。在临床生物化学实验室中,应采用六西格玛方法,通过计算质量目标指标,对每项检验进行适当的质量控制规划。
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引用次数: 0
Rapid Detection of Entamoeba histolytica Using FilmArray Gastrointestinal Panel: Enhancing Early Treatment and Outcomes. 利用FilmArray胃肠道小组快速检测溶组织内阿米巴:提高早期治疗和结果。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240716
Yung-Che Chou, Yu-Ta Lin, Si-Yu Chen, Yu-Wei Tseng, Tze-Kiong Er

Background: Entamoeba histolytica, a protozoan parasite, is responsible for intestinal amebiasis and can cause severe complications. It is prevalent in tropical and subtropical regions and is a significant health concern in developing countries. Traditional diagnostic methods often delay the diagnosis, leading to prolonged patient suffering and increased risk of complications.

Methods: We report the case of a 59-year-old HIV-positive man on Odefsey, who presented with a week-long history of abdominal pain and diarrhea. Initial stool analysis suggested bacterial colitis, and empirical treatment with levofloxacin was initiated. However, the patient's condition worsened, resulting in hospitalization. Laboratory findings included elevated white blood cell count and high-sensitivity C-reactive protein, with low plasma sodium and potassium levels. Stool bacterial cultures were negative for common pathogens.

Results: Rapid diagnosis was achieved using the FilmArray GI Panel, which detected E. histolytica within an hour. Subsequent stool microscopy suggested the presence of E. histolytica/E. dispar cysts. Prompt antiamoebic therapy with metronidazole and paromomycin resulted in significant clinical improvement. The case was reported to the Centers for Disease Control (CDC) as a Category II notifiable disease.

Conclusions: This case underscores the critical role of the FilmArray GI Panel in the rapid detection of E. his-tolytica, facilitating timely and effective treatment. Early diagnosis using advanced molecular diagnostics significantly improves patient outcomes and should be incorporated into routine clinical practice for managing gastrointestinal infections.

背景:溶组织内阿米巴是一种原生动物寄生虫,可引起肠道阿米巴病,并可引起严重并发症。它在热带和亚热带地区流行,是发展中国家的一个重大健康问题。传统的诊断方法往往延误诊断,导致患者的痛苦延长,并发症的风险增加。方法:我们报告一个59岁的艾滋病毒阳性男子在奥德赛,谁提出了一个星期的腹痛和腹泻的历史。最初的粪便分析提示细菌性结肠炎,并开始了左氧氟沙星的经验性治疗。然而,病人的病情恶化,导致住院。实验室结果包括白细胞计数和高敏c反应蛋白升高,血浆钠和钾水平低。粪便细菌培养对常见病原体呈阴性。结果:使用FilmArray GI Panel快速诊断,可在1小时内检测到溶组织芽胞杆菌。随后的粪便显微镜检查显示存在溶组织大肠杆菌/大肠杆菌。dispar囊肿。及时用甲硝唑和帕罗霉素进行抗阿米巴治疗可显著改善临床症状。该病例被报告给疾病控制中心(CDC)作为第二类应通报疾病。结论:该病例强调了FilmArray GI Panel在快速发现他型溶血性大肠杆菌,促进及时有效治疗方面的关键作用。早期诊断采用先进的分子诊断显著改善患者的结果,应纳入常规临床实践,以管理胃肠道感染。
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引用次数: 0
Quality Management System in Coagulation Laboratory of a Public Sector Hospital- An experience from a Developing Country. 公立医院凝血实验室质量管理体系——来自发展中国家的经验。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2023.230803
Maria Ali, Maliha Sumbul
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引用次数: 0
3D Culture System for Human Adrenal Glands That Uses a Sequential Processing Medium to Facilitate Cortical-Medullary Cell Development. 使用顺序处理介质促进皮质-髓细胞发育的人肾上腺三维培养系统。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240719
Yajie Guo, Bingqian Guo, Yan Huang, Yu Ye, Hongfei Chen, Liying Zhang, Minxi Li, Yifu Wang, Yufang Lv, Jinling Liao, Yang Chen, Yu Long, Jinghang Jiang, Zhongyuan Chen, Yi Guo, Zengnan Mo, Yonghua Jiang

Background: The human adrenal gland is composed of the cortex and the medulla, which contain different function cells. The aim of this study was to build a 3D culture system for human adrenal glands.

Methods: Human fetal adrenal tissues were digested into a cell suspension culture and processed in three-phase 3D cultures.

Results: Apparent spheroids could be seen from the 4th day on. After 21 days of 3D culture, steroid synthesis cells were evident via CYP17A1+ immunohistochemical staining and flow cytometry analysis. Electron microscopy analysis showed that these cells were present in lipid droplets in the cytoplasm. Meanwhile, TH+ cells represented catecholamine-producing cells, and these cells exhibited electron density particle gathering in the cytoplasm. Dehydroepiandrosterone and epinephrine syntheses were further confirmed via enzyme-linked immunosorbent assay.

Conclusions: We established a 3D culture system for human adrenal glands by using a sequential processing medium to facilitate cortical-medullary cell development.

背景:人肾上腺由皮质和髓质组成,两者含有不同的功能细胞。本研究的目的是建立人肾上腺三维培养系统。方法:将人胎儿肾上腺组织消化成细胞悬浮培养,并进行三相三维培养。结果:第4天起可见明显的球体。3D培养21天后,通过CYP17A1+免疫组化染色和流式细胞术分析可见类固醇合成细胞。电镜分析显示,这些细胞以脂滴形式存在于细胞质中。同时,TH+细胞代表儿茶酚胺产生细胞,这些细胞在细胞质中表现出电子密度粒子聚集。通过酶联免疫吸附试验进一步证实脱氢表雄酮和肾上腺素的合成。结论:利用序贯处理培养基建立了人肾上腺三维培养体系,促进皮质-髓细胞的发育。
{"title":"3D Culture System for Human Adrenal Glands That Uses a Sequential Processing Medium to Facilitate Cortical-Medullary Cell Development.","authors":"Yajie Guo, Bingqian Guo, Yan Huang, Yu Ye, Hongfei Chen, Liying Zhang, Minxi Li, Yifu Wang, Yufang Lv, Jinling Liao, Yang Chen, Yu Long, Jinghang Jiang, Zhongyuan Chen, Yi Guo, Zengnan Mo, Yonghua Jiang","doi":"10.7754/Clin.Lab.2024.240719","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240719","url":null,"abstract":"<p><strong>Background: </strong>The human adrenal gland is composed of the cortex and the medulla, which contain different function cells. The aim of this study was to build a 3D culture system for human adrenal glands.</p><p><strong>Methods: </strong>Human fetal adrenal tissues were digested into a cell suspension culture and processed in three-phase 3D cultures.</p><p><strong>Results: </strong>Apparent spheroids could be seen from the 4th day on. After 21 days of 3D culture, steroid synthesis cells were evident via CYP17A1+ immunohistochemical staining and flow cytometry analysis. Electron microscopy analysis showed that these cells were present in lipid droplets in the cytoplasm. Meanwhile, TH+ cells represented catecholamine-producing cells, and these cells exhibited electron density particle gathering in the cytoplasm. Dehydroepiandrosterone and epinephrine syntheses were further confirmed via enzyme-linked immunosorbent assay.</p><p><strong>Conclusions: </strong>We established a 3D culture system for human adrenal glands by using a sequential processing medium to facilitate cortical-medullary cell development.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 12","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Distribution and Drug Resistance of Pathogens of Catheter-Related Blood Stream Infection in a Hospital from 2017 to 2021. 2017 - 2021年某医院导管相关血流感染病原菌分布及耐药性分析
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240514
Panpan Sun, Jiyong Jian, Liang Chen

Background: We analyzed the clinical distribution and the antibiotic susceptibility of pathogens for catheter-related blood stream infection (CRBSI) in the hospital retrospectively.

Methods: The clinical information and pathogens associated with CRBSI were collected from the Microbiology Laboratory of the hospital retrospectively from January 2017 to December 2021. Identification and the antibiotic susceptibility test (AST) were carried out with VITEK-2 Compact. The data were analyzed by WHONET 5.6.

Results: A total of 138 isolates (6.4%) associated with CRBSI were found during the 5-year period. Among the pathogens of CRBSI, 89 (64.5%) isolates were coagulase-negative Staphylococcus, 6 (4.3%) were strains of Enterococcus, and 4 (2.9%) were strains of Staphylococcus aureus. Staphylococci and Streptococci were all sensitive to Linezolid, Vancomycin, Quinuprine/Dafuprine, and Tigecycline. There were 39 (28.3%) Gram-negative bacilli isolates, including 17 strains of Klebsiella pneumoniae (12.3%), 6 (4.3%) strains of Acinetobacter baumannii, and 6 (4.3%) strains of Burkholderia cepacia. The drug resistance rates of Gram-negative bacilli to most drugs were higher than 50%. The main departments where CRBSI pathogens were isolated were Peritoneal Tumor Surgery (86, 62.3%), ICU (20, 14.5%), Emergency Department (6, 4.3%), and Respiratory Department (6, 4.3%).

Conclusions: With the emergence of multidrug-resistant (MDR) bacteria, more attention should be paid to the prevention and control of nosocomial infections. At the same time, the use and management of antibiotics should be standardized, and monitoring of multidrug-resistant bacteria should be strengthened in hospitals.

背景:回顾性分析医院导管相关性血流感染(CRBSI)病原菌的临床分布及药敏情况。方法:回顾性收集2017年1月至2021年12月该院微生物学实验室CRBSI相关临床资料及病原菌。用VITEK-2 Compact进行鉴定和药敏试验(AST)。数据采用WHONET 5.6进行分析。结果:5年间共分离出138株(6.4%)与CRBSI相关。CRBSI病原菌中凝固酶阴性葡萄球菌89株(64.5%)、肠球菌6株(4.3%)、金黄色葡萄球菌4株(2.9%)。葡萄球菌和链球菌对利奈唑胺、万古霉素、喹嘌呤/达福嘌呤和替加环素均敏感。革兰氏阴性杆菌39株(28.3%),其中肺炎克雷伯菌17株(12.3%)、鲍曼不动杆菌6株(4.3%)、洋葱伯克霍尔德菌6株(4.3%)。革兰氏阴性杆菌对大部分药物的耐药率均大于50%。CRBSI病原菌分离的主要科室为腹膜肿瘤外科(86例,62.3%)、ICU(20例,14.5%)、急诊科(6例,4.3%)、呼吸科(6例,4.3%)。结论:随着耐多药细菌(MDR)的出现,应重视医院感染的预防和控制。同时,规范抗菌药物的使用和管理,加强医院耐多药菌的监测。
{"title":"Distribution and Drug Resistance of Pathogens of Catheter-Related Blood Stream Infection in a Hospital from 2017 to 2021.","authors":"Panpan Sun, Jiyong Jian, Liang Chen","doi":"10.7754/Clin.Lab.2024.240514","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240514","url":null,"abstract":"<p><strong>Background: </strong>We analyzed the clinical distribution and the antibiotic susceptibility of pathogens for catheter-related blood stream infection (CRBSI) in the hospital retrospectively.</p><p><strong>Methods: </strong>The clinical information and pathogens associated with CRBSI were collected from the Microbiology Laboratory of the hospital retrospectively from January 2017 to December 2021. Identification and the antibiotic susceptibility test (AST) were carried out with VITEK-2 Compact. The data were analyzed by WHONET 5.6.</p><p><strong>Results: </strong>A total of 138 isolates (6.4%) associated with CRBSI were found during the 5-year period. Among the pathogens of CRBSI, 89 (64.5%) isolates were coagulase-negative Staphylococcus, 6 (4.3%) were strains of Enterococcus, and 4 (2.9%) were strains of Staphylococcus aureus. Staphylococci and Streptococci were all sensitive to Linezolid, Vancomycin, Quinuprine/Dafuprine, and Tigecycline. There were 39 (28.3%) Gram-negative bacilli isolates, including 17 strains of Klebsiella pneumoniae (12.3%), 6 (4.3%) strains of Acinetobacter baumannii, and 6 (4.3%) strains of Burkholderia cepacia. The drug resistance rates of Gram-negative bacilli to most drugs were higher than 50%. The main departments where CRBSI pathogens were isolated were Peritoneal Tumor Surgery (86, 62.3%), ICU (20, 14.5%), Emergency Department (6, 4.3%), and Respiratory Department (6, 4.3%).</p><p><strong>Conclusions: </strong>With the emergence of multidrug-resistant (MDR) bacteria, more attention should be paid to the prevention and control of nosocomial infections. At the same time, the use and management of antibiotics should be standardized, and monitoring of multidrug-resistant bacteria should be strengthened in hospitals.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 12","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes. COQ8B肾病表现不典型肾脏病理改变1例报告。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240706
Fan Wu, Fengfang Wei, Bingqing Liu, Danhua Lin

Background: COQ8B nephropathy is a hereditary mitochondrial kidney disease. Most cases present with steroidresistant nephrotic syndrome and focal segmental glomerulosclerosis, whereas this patient exhibited asymptomatic isolated proteinuria and mild renal histopathology.

Methods: Appropriate laboratory tests, abdominal ultrasonography, renal biopsy, and whole exome sequencing were performed to explore the cause of the disease.

Results: Laboratory results revealed that the patient was asymptomatic. Abdominal ultrasonography confirmed left renal vein nutcracker. Renal histopathology showed mild mesangial proliferation. An unreported splice mutation in the COQ8B (c.893+2T>A) gene was identified by whole exome sequencing.

Conclusions: COQ8B nephropathy is an emerging cause of isolated proteinuria, particularly prevalent among adolescents. For nephritis of unknown etiology following renal biopsy, prompt consideration of gene sequencing is advisable.

背景:COQ8B肾病是一种遗传性线粒体肾病。大多数病例表现为类固醇抵抗性肾病综合征和局灶节段性肾小球硬化,而该患者表现为无症状孤立性蛋白尿和轻度肾脏组织病理学。方法:通过适当的实验室检查、腹部超声检查、肾脏活检和全外显子组测序来探讨疾病的原因。结果:实验室结果显示患者无症状。腹部超声证实左肾静脉胡桃钳。肾组织病理学显示轻度肾系膜增生。通过全外显子组测序鉴定了COQ8B基因(c.893+2T>A)的一个未报道的剪接突变。结论:COQ8B肾病是孤立性蛋白尿的新病因,尤其在青少年中流行。对于肾活检后病因不明的肾炎,建议及时考虑基因测序。
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引用次数: 0
Metabolomics in Context of Alpha-Ketoglutarate and Lactate in Neonates with Birth Asphyxia. 新生儿出生窒息时α -酮戊二酸和乳酸的代谢组学研究。
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240717
Chandini Dash, Seema Lekhwani, Jagjit S Dalal, Kiran Bala, Kiran Dahiya, Isha Malik, Ajay Momi, Rajan D Singh

Background: Neonatal birth/perinatal asphyxia is a critical condition that can adversely affect many different bodily tissues, particularly the brain; depending on duration and severity of asphyxia, leading to difficulties and lifelong disabilities. These can be avoided by early detection of the biochemical derangements and prompt intervention. Serum alpha-ketoglutarate (α-KG) and cord blood lactate have been found to be associated with birth asphyxia and may have potential to act as biomarkers for birth asphyxia.

Methods: Serum levels of α-KG and cord blood lactate were estimated in 34 birth asphyxiated neonates with clinical evidence of asphyxia. The levels were also analyzed in 46 apparently healthy controls, and data was compared among different groups by using appropriate statistical analysis. Serum α-KG was estimated by enzyme-linked immunosorbent assay (ELISA) and cord blood lactate by blood gas autoanalyzer (BGA) in the serum samples.

Results: Serum α-KG levels were found to be increased in birth asphyxiated neonates as compared to healthy controls (p-value = 0.06). Correlation of serum α-ketoglutarate (ng/mL) levels with outcome (discharged/expired) in birth asphyxiated neonates was not found to be statistically significant (r value = 0.156, p-value = 0.384). A statisti-cally significant correlation was not found between severity of birth asphyxia and levels of serum α-ketoglutarate (ng/mL) (r value = 0.029, p-value = 0.86). Also, correlation of cord blood lactate levels (mmol/L) with severity in birth asphyxiated neonates was not found to be statistically significant (r value = 0.326, p-value = 0.10). Correlation between cord blood lactate levels (mmol/L) and outcome in birth asphyxiated neonates (discharged/ expired) was not found to be statistically significant (r value = 0.03, p-value = 0.87), while correlation of cord pH levels and severity of birth asphyxia in cases was found to be highly statistically significant (r value = -0.60, p-value < 0.01) Conclusions: Serum α-KG and cord blood lactate bear the potential to act as biomarkers in neonates with birth asphyxia.

背景:新生儿/围产期窒息是一种严重的疾病,可对许多不同的身体组织,特别是大脑产生不利影响;根据窒息的持续时间和严重程度,导致困难和终身残疾。这些可以通过早期发现生化紊乱和及时干预来避免。血清α-酮戊二酸(α-KG)和脐带血乳酸已被发现与出生窒息有关,可能有潜力作为出生窒息的生物标志物。方法:对34例有临床窒息证据的新生儿进行血清α-KG和脐带血乳酸水平测定。同时分析了46例明显健康的对照,并采用适当的统计学方法对不同组间的数据进行了比较。采用酶联免疫吸附法(ELISA)测定血清α-KG,采用血气自动分析仪(BGA)测定脐带血乳酸含量。结果:与健康对照组相比,窒息新生儿血清α-KG水平升高(p值= 0.06)。出生窒息新生儿血清α-酮戊二酸(ng/mL)水平与结局(出院/过期)的相关性无统计学意义(r值= 0.156,p值= 0.384)。出生窒息严重程度与血清α-酮戊二酸(ng/mL)水平无统计学意义(r值= 0.029,p值= 0.86)。脐带血乳酸水平(mmol/L)与出生窒息新生儿严重程度的相关性无统计学意义(r值= 0.326,p值= 0.10)。脐带血乳酸水平(mmol/L)与出生窒息新生儿结局(出院/过期)的相关性无统计学意义(r值= 0.03,p值= 0.87),而脐带血pH水平与新生儿出生窒息严重程度的相关性有高度统计学意义(r值= -0.60,p值< 0.01)。结论:血清α-KG和脐带血乳酸水平有可能作为新生儿出生窒息的生物标志物。
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引用次数: 0
A Case of Acute Necrotic Encephalopathy Associated with Influenza A Virus in Adults. 成人甲型流感病毒相关急性坏死性脑病1例
IF 0.7 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-12-01 DOI: 10.7754/Clin.Lab.2024.240730
Meixia Su, Dan Wang, Ming Zeng, Haiwang Zhang, Qing Wang

Background: Acute necrotizing encephalopathy is a rare acute, explosive, and severe form of encephalopathy that predominantly occurs in children; however, it is infrequent in adults. The patient is typically caused by viral infection, with rapid onset of fever, convulsion, disturbance of consciousness, and other symptoms. It presents symmetrical, multifocal, involving bilateral thalamic damage and other typical imaging features. This disease has a poor prognosis and can lead to severe neurological symptom sequelae such as epilepsy, coma and even necrotic encephalopathy [1], and its fatality rate can be as high as 52% [2]. Early identification and timely treatment are the key to reducing the fatality rate.

Methods: Laboratory routine examinations, encompassing blood routine, biochemistry, influenza PCR, cytokines, and blood gas, were carried out for the patient. Moreover, imaging examinations such as skull CT were also conducted. Based on the combination of clinical symptoms, the patient was diagnosed and treated.

Results: Auxiliary examination: The white blood cell count was 2.33 x 109/L, the lymphocyte percentage was 62.3%, the platelet count was 83.0 x 109/L, the CRP was 7.4 mg/L, the PCR was positive, the partial pressure of oxygen was 59.3 mmHg, the partial pressure of carbon dioxide was 26.6 mmHg, the lactic acid was 6.98 mmol/L, the ALT was 1,892 U/L, the AST was 6,804 U/L, the IL6 was > 1,1836 pg/mL, the plasma D-dimer determination was > 35.20 mg/L, the 3P test was positive, the PT was > 180 sec, and the fibrinogen was 0.1 g/L. Skull CT revealed a small number of low-density changes in the bilateral thalamus.

Treatment: Oral tube intubation, ventilator-assisted ventilation, cranial pressure reduction, pressure enhancement, methylprednisolone injection for anti-inflammation, plasma and platelet transfusion, and oseltamivir capsule for antiviral purposes. After MDT consultation, acute necrotic encephalopathy was considered, and intravenous shock therapy with immunoglobulin and methylprednisolone needle was added. Forty-eight hours after admission, the patient's condition deteriorated, multiple organ failure occurred, and the family gave up treatment.

Conclusions: Acute necrotizing encephalopathy is infrequent in adults, prone to being overlooked and misdiagnos-ed, and the disease progresses rapidly with a high fatality rate. Clinicians should enhance the early recognition ability of the disease and actively administer glucocorticoid treatment combined with immunoglobulin, which is conducive to a better prognosis for patients.

背景:急性坏死性脑病是一种罕见的急性、爆炸性和严重形式的脑病,主要发生在儿童;然而,它在成人中并不常见。患者通常由病毒感染引起,伴有快速发热、惊厥、意识障碍和其他症状。它表现为对称、多灶性,包括双侧丘脑损伤和其他典型的影像学特征。本病预后差,可导致癫痫、昏迷甚至坏死性脑病[1]等严重的神经系统症状后遗症,病死率可高达52%[1]。早期发现和及时治疗是降低死亡率的关键。方法:对患者进行血常规、生化、流感PCR、细胞因子、血气等实验室常规检查。此外,还进行了颅骨CT等影像学检查。结合临床症状对患者进行诊断和治疗。结果:辅助检查:白细胞计数为2.33×109 / L,淋巴细胞百分比为62.3%,血小板计数83.0 x 109 / L, c反应蛋白为7.4 mg / L, PCR是积极的,氧的分压为59.3毫米汞柱,二氧化碳的分压为26.6毫米汞柱,乳酸是6.98更易/ L, 1892 U / L ALT, AST 6804 U / L,白细胞介素6 > 1,1836 pg / mL,等离子体肺动脉栓塞决心> 35.20 mg / L, 3 p测试是积极的,PT > 180秒,纤维蛋白原0.1 g/L。头颅CT显示双侧丘脑少量低密度改变。治疗:口服插管,呼吸机辅助通气,颅底减压,加压,注射甲泼尼龙抗炎,输血浆和血小板,奥司他韦胶囊抗病毒。经MDT会诊,考虑急性坏死性脑病,加用免疫球蛋白及甲泼尼龙针静脉休克治疗。入院48小时后,患者病情恶化,多器官功能衰竭,家属放弃治疗。结论:急性坏死性脑病在成人中少见,易被忽视和误诊,且病情进展快,病死率高。临床医生应提高对疾病的早期识别能力,积极给予糖皮质激素联合免疫球蛋白治疗,有利于患者更好的预后。
{"title":"A Case of Acute Necrotic Encephalopathy Associated with Influenza A Virus in Adults.","authors":"Meixia Su, Dan Wang, Ming Zeng, Haiwang Zhang, Qing Wang","doi":"10.7754/Clin.Lab.2024.240730","DOIUrl":"10.7754/Clin.Lab.2024.240730","url":null,"abstract":"<p><strong>Background: </strong>Acute necrotizing encephalopathy is a rare acute, explosive, and severe form of encephalopathy that predominantly occurs in children; however, it is infrequent in adults. The patient is typically caused by viral infection, with rapid onset of fever, convulsion, disturbance of consciousness, and other symptoms. It presents symmetrical, multifocal, involving bilateral thalamic damage and other typical imaging features. This disease has a poor prognosis and can lead to severe neurological symptom sequelae such as epilepsy, coma and even necrotic encephalopathy [1], and its fatality rate can be as high as 52% [2]. Early identification and timely treatment are the key to reducing the fatality rate.</p><p><strong>Methods: </strong>Laboratory routine examinations, encompassing blood routine, biochemistry, influenza PCR, cytokines, and blood gas, were carried out for the patient. Moreover, imaging examinations such as skull CT were also conducted. Based on the combination of clinical symptoms, the patient was diagnosed and treated.</p><p><strong>Results: </strong>Auxiliary examination: The white blood cell count was 2.33 x 109/L, the lymphocyte percentage was 62.3%, the platelet count was 83.0 x 109/L, the CRP was 7.4 mg/L, the PCR was positive, the partial pressure of oxygen was 59.3 mmHg, the partial pressure of carbon dioxide was 26.6 mmHg, the lactic acid was 6.98 mmol/L, the ALT was 1,892 U/L, the AST was 6,804 U/L, the IL6 was > 1,1836 pg/mL, the plasma D-dimer determination was > 35.20 mg/L, the 3P test was positive, the PT was > 180 sec, and the fibrinogen was 0.1 g/L. Skull CT revealed a small number of low-density changes in the bilateral thalamus.</p><p><strong>Treatment: </strong>Oral tube intubation, ventilator-assisted ventilation, cranial pressure reduction, pressure enhancement, methylprednisolone injection for anti-inflammation, plasma and platelet transfusion, and oseltamivir capsule for antiviral purposes. After MDT consultation, acute necrotic encephalopathy was considered, and intravenous shock therapy with immunoglobulin and methylprednisolone needle was added. Forty-eight hours after admission, the patient's condition deteriorated, multiple organ failure occurred, and the family gave up treatment.</p><p><strong>Conclusions: </strong>Acute necrotizing encephalopathy is infrequent in adults, prone to being overlooked and misdiagnos-ed, and the disease progresses rapidly with a high fatality rate. Clinicians should enhance the early recognition ability of the disease and actively administer glucocorticoid treatment combined with immunoglobulin, which is conducive to a better prognosis for patients.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"70 12","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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Clinical laboratory
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