4区医学

Labmedicine Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae026

Qun Wang, Xinjian Cai, Li Zhang

{"title":"Uncommon pathogen misidentification of Herbaspirillum huttiense as Burkholderia cepacia in bacteremia: a case report","authors":"Qun Wang, Xinjian Cai, Li Zhang","doi":"10.1093/labmed/lmae026","DOIUrl":"https://doi.org/10.1093/labmed/lmae026","url":null,"abstract":"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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"63 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584732","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

When you think you should transfuse…don’t! 当你认为应该输血时......不要！

4区医学

Labmedicine Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae024

Richard R Gammon, Harold Alvarez, Camila Masias, Nancy Benitez, Claribel Resto

{"title":"When you think you should transfuse…don’t!","authors":"Richard R Gammon, Harold Alvarez, Camila Masias, Nancy Benitez, Claribel Resto","doi":"10.1093/labmed/lmae024","DOIUrl":"https://doi.org/10.1093/labmed/lmae024","url":null,"abstract":"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 (&lt; 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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584878","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 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

Labmedicine Pub Date : 2024-04-06 DOI: 10.1093/labmed/lmae023

Liqiu Pan, Yuling Qiu, Lihua Ye, Linlin Li, Yuanyuan Huang, Wuning Mo, Faquan Lin

{"title":"A clinical update of compound heterozygosity for hemoglobin Hekinan II [a27(B8)Glu–Asp; HBA1: c.84G>T] variant in China","authors":"Liqiu Pan, Yuling Qiu, Lihua Ye, Linlin Li, Yuanyuan Huang, Wuning Mo, Faquan Lin","doi":"10.1093/labmed/lmae023","DOIUrl":"https://doi.org/10.1093/labmed/lmae023","url":null,"abstract":"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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"2016 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584880","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

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

Labmedicine Pub Date : 2024-04-05 DOI: 10.1093/labmed/lmae021

Ivan Stevic, Harminder Singh, AbdulRazaq Sokoro

{"title":"Feasibility of opportunistic colorectal cancer screening of hospitalized patients in tertiary care and community hospitals","authors":"Ivan Stevic, Harminder Singh, AbdulRazaq Sokoro","doi":"10.1093/labmed/lmae021","DOIUrl":"https://doi.org/10.1093/labmed/lmae021","url":null,"abstract":"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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584642","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

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

Labmedicine Pub Date : 2024-04-05 DOI: 10.1093/labmed/lmae022

Yu Zhang, Chui Mei Ong, Kara Lynch, Javier Waksman, Alan H B Wu

{"title":"Serum microRNA‑122 for assessment of acute liver injury in patients with extensive skeletal muscle damage","authors":"Yu Zhang, Chui Mei Ong, Kara Lynch, Javier Waksman, Alan H B Wu","doi":"10.1093/labmed/lmae022","DOIUrl":"https://doi.org/10.1093/labmed/lmae022","url":null,"abstract":"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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140584877","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

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

Labmedicine 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

{"title":"Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm","authors":"Parham Sadeghipour, Marzieh Valuian, Serwa Ghasemi, Farnaz Rafiee, Maryam Pourirahim, Mehran Mahmoodian, Majid Maleki, Samira Kalayinia","doi":"10.1093/labmed/lmad109","DOIUrl":"https://doi.org/10.1093/labmed/lmad109","url":null,"abstract":"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&gt;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.","PeriodicalId":54328,"journal":{"name":"Labmedicine","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138819405","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

About the Journal 关于华尔街日报

4区医学

Labmedicine Pub Date : 2023-11-01 DOI: 10.1093/labmed/lmad093

引用次数: 0

Reviewer List 评论列表

4区医学

Labmedicine Pub Date : 2023-02-23 DOI: 10.1093/labmed/lmad008

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

Labmedicine Pub Date : 2021-10-30 DOI: 10.3969/J.ISSN.1673-8640.2021.010.011