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Uncommon pathogen misidentification of Herbaspirillum huttiense as Burkholderia cepacia in bacteremia: a case report 在菌血症中将赫氏吸虫误认为伯克霍尔德氏菌:一份病例报告
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae026
Qun Wang, Xinjian Cai, Li Zhang
Herbaspirillum huttiense is an opportunistic pathogen associated with rare cases of bacteremia. In this case report, H huttiense was isolated from blood samples collected from an intravenous catheter (incubated for 20.8 hours) and a peripheral vein (incubated for 14.16 hours) of a lung adenocarcinoma patient. Positive blood culture bottles were subjected to smear preparation, and Gram staining and microscopic examination revealed the presence of gram-negative rods in both aerobic bottles. We used the VITEK MS automatic microbial mass spectrometry system, VITEK 2 Compact automatic microbial analysis system, and high-throughput nucleic acid sequencing for accurate identification of the isolate. It is noteworthy that although the VITEK 2 Compact identified the isolate as Burkholderia cepacia, confirmation through VITEK MS mass spectrometry and 16S ribosomal DNA (rDNA) sequencing identified it as H huttiense. Subsequently, antimicrobial susceptibility testing was performed using the broth microdilution method, following the guidelines for nonfermenting gram-negative bacilli provided by the Clinical and Laboratory Standards Institute. This case highlights the possibility of misidentification of H huttiense as B cepacia by VITEK 2 Compact in certain situations, emphasizing the importance of considering uncommon pathogens, such as H huttiense, in the context of bacteremia in cancer patients.
胡提香草菌(Herbaspirillum huttiense)是一种机会性病原体,与罕见的菌血症病例有关。在本病例报告中,从一名肺腺癌患者的静脉导管(培养 20.8 小时)和外周静脉(培养 14.16 小时)采集的血液样本中分离出了呼肠孤菌。对阳性血培养瓶进行涂片制备,革兰氏染色和显微镜检查显示两个需氧瓶中均存在革兰氏阴性杆菌。我们使用 VITEK MS 自动微生物质谱分析系统、VITEK 2 Compact 自动微生物分析系统和高通量核酸测序技术对分离菌株进行了准确鉴定。值得注意的是,尽管 VITEK 2 Compact 将分离物鉴定为伯克霍尔德氏菌,但通过 VITEK MS 质谱分析和 16S 核糖体 DNA(rDNA)测序确认其为 Huttiense。随后,按照临床和实验室标准研究所提供的非发酵革兰氏阴性杆菌指南,使用肉汤微稀释法进行了抗菌药敏感性检测。本病例强调了在某些情况下 VITEK 2 Compact 将胡蒂斯氏菌误认为头孢杆菌的可能性,并强调了在癌症患者发生菌血症时考虑胡蒂斯氏菌等不常见病原体的重要性。
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引用次数: 0
When you think you should transfuse…don’t! 当你认为应该输血时......不要!
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae024
Richard R Gammon, Harold Alvarez, Camila Masias, Nancy Benitez, Claribel Resto
A 48-year-old female presented to the emergency department with severe fatigue. Admission laboratory test results were hemoglobin 6.6 g/dL, platelet count 287,000/μL, and white blood cell count 25,200/μL. Lactate dehydrogenase was elevated at 898 U/L, haptoglobin was markedly decreased (< 31 mg/dL), indirect bilirubin was elevated (5.3 mg/dL), and the absolute reticulocyte count was low at 0.0050/μL. A sample was sent to the immunohematology reference laboratory. The direct antiglobulin test immunoglobulin G was negative; C3 was 1+. All cells were reactive at immediate spin phase, indirect antiglobulin testing (IAT) with polyethylene glycol, with low ionic strength saline, neat, prewarm, and in the solid phase. All cells were nonreactive at IAT-ficin. Additional testing included a cold antibody titer that was 1:4096 and thermal amplitude studies demonstrating reactivity of 2+ at 37°C. These results were consistent with a clinically significant anti-Pr and cold agglutinin disease (CAD). Although rituximab is effective in autoimmune hemolytic anemia, this may take weeks. The patient was treated with pegcetacoplan, a pegylated peptide that targets C3 inhibiting hemolysis. The patient was discharged on day 29 with a hemoglobin of 8 g/dL. This is a report of one of the first patients successfully treated with pegcetacoplan for CAD.
一名 48 岁女性因严重乏力到急诊科就诊。入院化验结果为血红蛋白 6.6 g/dL,血小板计数 287 000/μL,白细胞计数 25 200/μL。乳酸脱氢酶升高至 898 U/L,血红蛋白明显降低(31 mg/dL),间接胆红素升高(5.3 mg/dL),网织红细胞绝对计数低至 0.0050/μL。样本被送往免疫血液学参考实验室。直接抗球蛋白试验免疫球蛋白 G 为阴性;C3 为 1+。所有细胞在立即旋转阶段、聚乙二醇间接抗球蛋白试验(IAT)、低离子强度生理盐水、整洁、预热和固相阶段均有反应。所有细胞对 IAT-ficin均无反应。其他测试包括冷抗体滴度(1:4096)和热振幅研究(37°C 时反应性为 2+)。这些结果与具有临床意义的抗原和冷凝集素病(CAD)一致。虽然利妥昔单抗对自身免疫性溶血性贫血有效,但可能需要数周时间。患者接受了聚乙二醇肽治疗,这种聚乙二醇肽可抑制 C3 溶血。患者于第 29 天出院,血红蛋白为 8 g/dL。这是首例使用培高氯普兰成功治疗 CAD 患者的报告。
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引用次数: 0
A clinical update of compound heterozygosity for hemoglobin Hekinan II [a27(B8)Glu–Asp; HBA1: c.84G>T] variant in China 中国血红蛋白 Hekinan II [a27(B8)Glu-Asp; HBA1: c.84G>T]复合杂合子变异的临床最新进展
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae023
Liqiu Pan, Yuling Qiu, Lihua Ye, Linlin Li, Yuanyuan Huang, Wuning Mo, Faquan Lin
Background Hemoglobin (Hb) Hekinan II (A27; Glu-Asp) is an α-chain variant, and its interaction with the common Southeast Asian (--SEA/) α-thalassemia (α-thal) deletion is rarely reported. This study provides a clinical update of Hb Hekinan II associated with (--SEA/) α-thal. Methods A total of 11 simple heterozygotes and 20 composite heterozygotes for Hb Hekinan II and (--SEA/) α-thal were included based on molecular diagnosis. Results Hb Hekinan II exhibited a significant increase in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin content, but a decrease in red blood cell level compared with α+ thalassemia deletion. Compared with (--SEA/) α-thal, composite heterozygotes for Hb Hekinan II and (--SEA/) α-thal showed similar erythrocyte parameters. Both heterozygotes with and without (--SEA/) α-thal showed low Hb A2 level. Hb Hekinan II showed abnormal performance in high-performance liquid chromatography but not in capillary electrophoresis. Conclusion Hb Hekinan II is a benign Hb variant. The heterozygotes exhibit clinically asymptomatic coinheritance with (--SEA/) α-thal having comparable hematological phenotype to simple (--SEA/) α-thal. The combination of hematological and molecular analysis helped to improve the detection rate of this rare variant.
背景 血红蛋白(Hb)Hekinan II(A27;Glu-Asp)是一种α链变异型,其与常见的东南亚(--SEA/)α-地中海贫血(α-thal)缺失的相互作用很少见报道。本研究提供了与 (--SEA/) α-thal 相关的 Hb Hekinan II 的最新临床资料。方法 根据分子诊断结果,共纳入了 11 例 Hb Hekinan II 和 (--SEA/) α-thal 简单杂合子和 20 例复合杂合子。结果 与α+地中海贫血缺失型相比,Hb Hekinan II 血红蛋白、平均血球容积和平均血球血红蛋白含量显著增加,但红细胞水平下降。与(--SEA/)α-thal相比,Hb Hekinan II和(--SEA/)α-thal的复合杂合子显示出相似的红细胞参数。含(--SEA/) α-thal的杂合子和不含(--SEA/) α-thal的杂合子都显示出较低的Hb A2水平。Hb Hekinan II 在高效液相色谱法中表现异常,但在毛细管电泳中没有异常。结论 Hb Hekinan II 是一种良性 Hb 变异体。杂合子与 (--SEA/) α-thal 具有临床无症状的共遗传性,其血液学表型与单纯 (--SEA/) α-thal 相似。结合血液学和分子分析有助于提高这种罕见变异的检出率。
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引用次数: 0
Feasibility of opportunistic colorectal cancer screening of hospitalized patients in tertiary care and community hospitals 对三级医疗机构和社区医院的住院病人进行机会性大肠癌筛查的可行性
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-04-05 DOI: 10.1093/labmed/lmae021
Ivan Stevic, Harminder Singh, AbdulRazaq Sokoro
Background Population screening for colorectal cancer (CRC) remains low, requiring alternative approaches for increasing participation. Opportunistic screening of hospitalized patients may aid in increasing uptake rates. Objective To assess whether inpatients can be recruited for opportunistic CRC screening using fecal immunochemical testing (FIT). Methods Inpatient charts were prospectively reviewed for study eligibility on admission of patients to the medical wards of 3 hospitals in Winnipeg, Canada. Eligible patients were approached for participation and consent. Inoculated FIT specimen collection tubes were sent to the hospital laboratory for testing. Patients with positive FIT results received a follow-up colonoscopy. Results In total, 1542 inpatient charts were screened for eligibility; 53 patients were identified for enrollment (51.9% were male; median age, 59 years), of whom 13 patients consented to participate but only 7 provided a stool specimen. One of those 7 patients had a positive FIT result. The overall screening rate was low, at 0.45%. The primary reason for exclusion of patients was age (outside of the range of 50-75 years), followed by patients having recent gastrointestinal bleeding and/or known intestinal diseases. Conclusions Our data suggest that it is infeasible to recruit inpatients for opportunistic CRC screening in routine clinical practice.
背景 大肠癌(CRC)的人群筛查率仍然很低,需要采用其他方法来提高参与率。对住院患者进行机会性筛查可能有助于提高筛查率。目的 评估是否可以招募住院病人使用粪便免疫化学检验(FIT)进行机会性 CRC 筛查。方法 对加拿大温尼伯市 3 家医院内科病房的住院病人病历进行前瞻性审查,以确定其是否符合研究条件。对符合条件的患者进行接触,征得其同意后方可参与研究。接种的 FIT 标本采集管被送往医院实验室进行检测。FIT 结果呈阳性的患者将接受后续结肠镜检查。结果 共筛查了 1542 份住院病历,确定了 53 名患者(51.9% 为男性,年龄中位数为 59 岁),其中 13 名患者同意参与,但只有 7 名患者提供了粪便标本。这 7 名患者中有一人的 FIT 结果呈阳性。总体筛查率较低,仅为 0.45%。排除患者的主要原因是年龄(超出 50-75 岁的范围),其次是近期有消化道出血和/或已知肠道疾病的患者。结论 我们的数据表明,在常规临床实践中招募住院患者进行机会性 CRC 筛查是不可行的。
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引用次数: 0
Serum microRNA‑122 for assessment of acute liver injury in patients with extensive skeletal muscle damage 评估骨骼肌广泛损伤患者急性肝损伤的血清微RNA-122
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2024-04-05 DOI: 10.1093/labmed/lmae022
Yu Zhang, Chui Mei Ong, Kara Lynch, Javier Waksman, Alan H B Wu
Background Serum level of microRNA-122 (miR-122) has been reported as a sensitive diagnostic biomarker for detecting liver injury, comparable to the aminotransferases. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) activities are increased in other conditions, such as acute skeletal muscle injury (ASMI). We determined whether miR-122 is nonspecifically increased in patients suffering from ASMI. Methods We measured ALT, AST, creatine kinase (CK), and miR-122 in 3 groups: healthy controls (n = 24), patients with ASMI (total n = 29, 11 with recreational drug use and 18 without recreational drug use), and patients with acute liver injury (ALI; n = 14). Results Levels of ALT, AST, and CK increased 83%, 97%, and 100% for patients with ASMI and 100% for all 3 enzymes in ALI patients. In contrast, miR-122 increased in 34% of patients with ASMI (44.4% with recreational drug use and 18.2% without recreational drug use) and 100% of ALI patients. In 2 drug-induced liver injury cases, miR-122 increased about 12-24 hours before ALT and AST. Conclusion Recreational drug misuse is associated with both rhabdomyolysis and drug-induced liver injury (DILI). The traditional liver function markers AST and ALT were nonspecifically increased in the majority of patients with ASMI. miR-122 is only increased in patients at risk for DILI and demonstrates superior specificity for liver injury.
背景 据报道,血清微RNA-122(miR-122)水平是检测肝损伤的敏感诊断生物标志物,与转氨酶相当。天门冬氨酸氨基转移酶(AST)和丙氨酸氨基转移酶(ALT)的活性在其他情况下也会升高,如急性骨骼肌损伤(ASMI)。我们测定了 miR-122 在 ASMI 患者中是否非特异性地增加。方法 我们测量了三组患者的谷丙转氨酶(ALT)、谷草转氨酶(AST)、肌酸激酶(CK)和 miR-122:健康对照组(n = 24)、急性骨骼肌损伤(ASMI)患者(共 n = 29,其中 11 人使用过娱乐性药物,18 人未使用过娱乐性药物)和急性肝损伤(ALI;n = 14)。结果 ASMI 患者的谷丙转氨酶(ALT)、谷草转氨酶(AST)和肌酸激酶(CK)水平分别升高了 83%、97% 和 100%,而 ALI 患者的这三种酶水平均升高了 100%。与此相反,34%的 ASMI 患者(44.4%使用过娱乐性药物,18.2%未使用过娱乐性药物)和 100% 的 ALI 患者体内的 miR-122 水平升高。在 2 例药物性肝损伤病例中,miR-122 比 ALT 和 AST 早约 12-24 小时升高。结论 休闲药物滥用与横纹肌溶解症和药物性肝损伤(DILI)有关。在大多数 ASMI 患者中,传统的肝功能指标谷草转氨酶(AST)和谷丙转氨酶(ALT)非特异性地升高。
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引用次数: 0
Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm 全外显子组测序发现与显性非综合征性胸主动脉瘤相关的新型 EFEMP2 基因变异(c.C247T)
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2023-12-19 DOI: 10.1093/labmed/lmad109
Parham Sadeghipour, Marzieh Valuian, Serwa Ghasemi, Farnaz Rafiee, Maryam Pourirahim, Mehran Mahmoodian, Majid Maleki, Samira Kalayinia
Background Thoracic aortic aneurysm (TAA) is a multifactorial disorder. Familial TAA, which is more clinically aggressive, is associated with a high risk of lethal dissection or rupture. Genetic evaluation can provide TAA patients with personalized treatment and help in predicting risk to family members. Objective The purpose of this investigation was to report a likely pathogenic variant in the EFEMP2 gene that may contribute to TAA in a family with a documented history of the condition. Methods In the index patient, the causative genetic predisposition was identified using whole-exome sequencing. The potential likely pathogenic effect of the candidate variant was further analyzed through bioinformatics analysis, homology modeling, and molecular docking. Results The results revealed a likely pathogenic heterozygous variant, c.247C>T p.Arg83Cys, in exon 4 of the EFEMP2 gene (NM_016938), which was predicted to have disease-causing effects by MutationTaster, PROVEAN, SIFT, and CADD (phred score = 27.6). Conclusion In this study, a likely pathogenic variant in the EFEMP2 gene was identified in an Iranian family with a dominant pattern of autosomal inheritance of TAA. This finding underscores the importance of conducting molecular genetic evaluations in families with nonsyndromic TAA and the significance of early detection of at-risk family members.
背景胸主动脉瘤(TAA)是一种多因素疾病。家族性胸主动脉瘤在临床上更具侵袭性,与致命夹层或破裂的高风险相关。基因评估可为 TAA 患者提供个性化治疗,并有助于预测家庭成员的风险。目的 本研究旨在报告 EFEMP2 基因中一个可能导致 TAA 的致病变异体。方法 通过全外显子组测序确定了患者的致病遗传倾向。通过生物信息学分析、同源建模和分子对接,进一步分析了候选变体的潜在致病效应。结果 结果显示,在 EFEMP2 基因 (NM_016938) 的第 4 外显子中发现了一个可能致病的杂合变异,即 c.247C>T p.Arg83Cys,该变异被 MutationTaster、PROVEAN、SIFT 和 CADD 预测为具有致病效应(phred score = 27.6)。结论 在这项研究中,在一个伊朗家族中发现了 EFEMP2 基因中一个可能的致病变体,该家族具有 TAA 的常染色体显性遗传模式。这一发现强调了对非综合征 TAA 家族进行分子遗传学评估的重要性,以及早期发现高危家族成员的意义。
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引用次数: 0
About the Journal 关于华尔街日报
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2023-11-01 DOI: 10.1093/labmed/lmad093
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引用次数: 0
Reviewer List 评论列表
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2023-02-23 DOI: 10.1093/labmed/lmad008
Journal Article Reviewer List Get access Laboratory Medicine, Volume 54, Issue 2, March 2023, Pages 220–224, https://doi.org/10.1093/labmed/lmad008 Published: 23 February 2023
获取《实验室医学》第54卷第2期,2023年3月,220-224页,https://doi.org/10.1093/labmed/lmad008出版日期:2023年2月23日
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引用次数: 0
Comparison of different-brand tandem mass spectrometers for newborn screening of genetic metabolic diseases 不同品牌串联质谱在新生儿遗传代谢疾病筛查中的比较
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2021-10-30 DOI: 10.3969/J.ISSN.1673-8640.2021.010.011
Cheng-fang Tang, Qingxiu Wei, Jian-zeng Qin, F. Tang, Sichi Liu, Jiang Xiang, Yonglan Huang
{"title":"Comparison of different-brand tandem mass spectrometers for newborn screening of genetic metabolic diseases","authors":"Cheng-fang Tang, Qingxiu Wei, Jian-zeng Qin, F. Tang, Sichi Liu, Jiang Xiang, Yonglan Huang","doi":"10.3969/J.ISSN.1673-8640.2021.010.011","DOIUrl":"https://doi.org/10.3969/J.ISSN.1673-8640.2021.010.011","url":null,"abstract":"","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"65 1","pages":"1042"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84349472","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
Epidemic status and challenges of important human parasitic diseases in China 中国重要人类寄生虫病流行现状与挑战
4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY Pub Date : 2021-10-30 DOI: 10.3969/J.ISSN.1673-8640.2021.010.001
Jia-xu Chen, Y. Cai, L. Ai, P. Song, Mu-xin Chen, Shao-Hong Chen, Yan Lu, Z. Xiaonong
{"title":"Epidemic status and challenges of important human parasitic diseases in China","authors":"Jia-xu Chen, Y. Cai, L. Ai, P. Song, Mu-xin Chen, Shao-Hong Chen, Yan Lu, Z. Xiaonong","doi":"10.3969/J.ISSN.1673-8640.2021.010.001","DOIUrl":"https://doi.org/10.3969/J.ISSN.1673-8640.2021.010.001","url":null,"abstract":"","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"6 1","pages":"993"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91173518","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: 2
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