Laboratory medicine最新文献

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation. 一名 SH3TC2 基因突变患者的三叉神经痛、脱髓鞘性多发性神经病和中枢神经系统受累。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae081

Alexandros Giannakis, Gkirai Chamko, Ioannis Sarmas, Georgia Pepe, Christos Sidiropoulos, Spiridon Konitsiotis

{"title":"Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.","authors":"Alexandros Giannakis, Gkirai Chamko, Ioannis Sarmas, Georgia Pepe, Christos Sidiropoulos, Spiridon Konitsiotis","doi":"10.1093/labmed/lmae081","DOIUrl":"10.1093/labmed/lmae081","url":null,"abstract":"Background: Charcot-Marie-Tooth type 4C (CMT4C) is a slowly progressive, autosomal recessive, sensorimotor polyneuropathy characterized by demyelination and distinct clinical features, including cranial nerve involvement. CMT4C is associated with pathogenic mutations in the SH3TC2 gene.Methods: A patient presenting with gait instability due to demyelinating polyneuropathy and refractory trigeminal neuralgia underwent comprehensive evaluation. Nerve conduction studies, magnetic resonance imaging (MRI) of the brain, cervical spine, and thoracic spine, lumbar puncture, and genetic test through next generation sequencing were performed.Results: The genetic test found an Arg1109Stop mutation in the SH3TC2 gene, associated with demyelinating polyneuropathy and cranial neuropathy. Interestingly, brain MRI showed multiple, nonenhancing white matter hyperintensities. This is the first case of CMT4C associated with white matter lesions.Conclusion: Any patient with slowly progressive peripheral nervous system symptoms and disproportionally abnormal nerve conduction study findings should be tested for an inherited polyneuropathy and brain imaging for screening of possible central nervous system involvement should be performed. Further investigation is needed to elucidate the pathogenetic basis of CMT4C and a possible association with white matter lesions.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"195-198"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305079","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

Analytical evaluation of the automated interleukin-6 assay on the Roche cobas e602 analyzer. 对罗氏 cobas e602 分析仪上的自动白细胞介素-6 分析法进行分析评估。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae064

Anastasia Gant Kanegusuku, Timothy Carll, Kiang-Teck J Yeo

{"title":"Analytical evaluation of the automated interleukin-6 assay on the Roche cobas e602 analyzer.","authors":"Anastasia Gant Kanegusuku, Timothy Carll, Kiang-Teck J Yeo","doi":"10.1093/labmed/lmae064","DOIUrl":"10.1093/labmed/lmae064","url":null,"abstract":"Background: Interleukin-6 (IL-6) is a proinflammatory cytokine that is associated with many inflammatory diseases. This validation study evaluates the automated Roche Elecsys IL-6 electrochemiluminescent immunoassay that has been granted emergency use authorization by the US Food and Drug Administration.Methods: The Elecsys IL-6 assay was evaluated for precision, linearity, interference (by hemoglobin, bilirubin, triglycerides, and biotin) and clinical performance was compared to the V-PLEX Human IL-6 immunoassay (Meso Scale Discovery), performed by a reference laboratory.Results: The Elecsys IL-6 assay is precise (intra-assay <3% coefficient of variation [CV], interassay <5% CV), exhibits an analytical measurable range of 1.5-4790 pg/mL, and is tolerant of significant interferences (H < 2522, I <62, L<2101, biotin <50 ng/mL). Comparison with the V-PLEX assay revealed a 2.95 slope bias in patient samples evaluated for IL-6 concentration (n = 43, range = 1.5-1891 pg/mL, y = 2.95x - 32.7, r2 = 0.84). Bland-Altman analysis revealed an absolute mean bias of 152 pg/mL (SD = 254 pg/mL), or a mean percentage difference of 73%.Conclusion: The Roche IL-6 assay showed good analytical performance. The large systematic bias compared with another reference method precludes using multiple methods to monitor IL-6 response. The random-access nature of an automated IL-6 assay on the Roche platform makes the test available on demand.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"129-135"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914964","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

Implementing laboratory internal audit to improve compliance and quality of care in the municipal public health system-based ambulatory care health clinics in New York city. 实施实验室内部审计，以提高纽约市基于市政公共卫生系统的非住院医疗诊所的合规性和医疗质量。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae088

Faisal M Huq Ronny, Tshering Sherpa, Faisal N Saquib, Shana Ahmad

{"title":"Implementing laboratory internal audit to improve compliance and quality of care in the municipal public health system-based ambulatory care health clinics in New York city.","authors":"Faisal M Huq Ronny, Tshering Sherpa, Faisal N Saquib, Shana Ahmad","doi":"10.1093/labmed/lmae088","DOIUrl":"10.1093/labmed/lmae088","url":null,"abstract":"Introduction: System-wide laboratory internal audits are useful to help laboratories prepare for external audits in addition to being part of the ongoing program for compliance improvement and quality assurance in the laboratory to track and enhance care quality.Methods: A formal plan was developed and a modified audit checklist was prepared by our laboratory management team, applicable and uniquely tailored for our ambulatory care clinic settings to track operational, quality, and compliance metrics according to the New York State Department of Health Clinical Laboratory Evaluation Program. Two audits were conducted 6 months apart and the conformity documented.Results: An overall 84% increase in compliance and conformity was observed between first and second audits, which ranged from 63% to 100% across different categories, with 100% improvement (0% nonconformity) in 75% of the sites in the second audit.Conclusion: A system-wide laboratory internal audit was created and carried out. Staff shortages, rapid turnover, and lack of retraining were found to be contributing factors to sites that did not achieve 100% conformance. Continuous assessment and monitoring are key elements to success in the laboratory quality management system, and through this scheduled audit process, we were able to achieve continual laboratory quality improvement.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"115-117"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142670174","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

Dihydrorhodamine-123 flow cytometry method: time for substantial revision in technical procedure. 二氢罗丹明-123 流式细胞仪方法：是对技术程序进行重大修订的时候了。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae076

Mahdi Zavvar, Sina Zargaran, Hamed Baghdadi, Peyvand Poopak, Amir Hossein Poopak, Fariba Nabatchian, Yousef Fatahi, Gelareh Khosravipour, Behzad Poopak

引用次数: 0

Double-stranded DNA antibody test using BioPlex220 system: unacceptable option for SLE diagnosis and follow-up. 使用 BioPlex220 系统进行双链 DNA 抗体检测：诊断和随访系统性红斑狼疮的不可接受的选择。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae083

Kamran Kadkhoda, Gordon Schroeder, Nicole Boyert, Matthew Dee

引用次数: 0

Health disparities among incarcerated populations: a crucial laboratory and pathology review. 被监禁人群的健康差异：重要的实验室和病理学回顾。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae070

Diane Price Banks, Morgane McGuire, Von Samedi, Stephanie Whitehead, Melissa P Upton, Nicole R Jackson

{"title":"Health disparities among incarcerated populations: a crucial laboratory and pathology review.","authors":"Diane Price Banks, Morgane McGuire, Von Samedi, Stephanie Whitehead, Melissa P Upton, Nicole R Jackson","doi":"10.1093/labmed/lmae070","DOIUrl":"10.1093/labmed/lmae070","url":null,"abstract":"Background: The United States notoriously has one of the highest rates of incarceration in the world, yet scant attention to the health care needs of those incarcerated exists within laboratory medicine and pathology training and education. This article explores health disparities among incarcerated and released individuals regarding diagnostic laboratory testing and pathology services.Methods: A literature search was conducted for articles published between 2002 and 2023 using keywords including \"healthcare,\" \"incarcerated,\" \"laboratory services,\" \"pathology services,\" and \"health insurance for prisoners.\" Central themes were extracted and discussed to reveal the realities of health care during and after release from incarceration. Excluded from the analysis were articles about the immediate or extended family of incarcerated persons.Results: Incarcerated individuals have an increased risk for the development and exacerbation of communicable and noncommunicable diseases and mental health disorders, which results in exceedingly high morbidity and mortality rates.Conclusion: Policy changes are needed to mitigate disparities and improve health outcomes for incarcerated and released persons. Central to these disparities is decreased access to laboratory and pathology services, impeded by inadequate health care funding for these carceral institutions. Providing additional funding to the carceral system's health care budget is necessary to improve access to pathology and laboratory services.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"107-112"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142006204","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

Placental site nodules and reproductive outcomes: a clinicopathologic case series. 胎盘部位结节与生殖结果：临床病理学病例系列。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae075

Meaghan Jain, Andrea Peterson, F N U Sapna, Tiffany Hebert, Harry Lieman

{"title":"Placental site nodules and reproductive outcomes: a clinicopathologic case series.","authors":"Meaghan Jain, Andrea Peterson, F N U Sapna, Tiffany Hebert, Harry Lieman","doi":"10.1093/labmed/lmae075","DOIUrl":"10.1093/labmed/lmae075","url":null,"abstract":"Background: Placental site nodules (PSNs) are benign tumor-like growths that develop from chorionic-type intermediate trophoblastic cells. Their clinical significance is unknown. This study aims to determine the risk factors associated with PSNs, with focus on possible reproductive impact.Methods: We performed a retrospective case series of all patients with a pathology diagnosis of PSN in a large urban hospital system from 2018 to 2022. We collected clinical variables such as pathology diagnosis/description, presenting symptoms, method of prior delivery, and prior history of infertility, pregnancy loss, and uterine instrumentation.Results: A total of 32 patients were included in this case series. The most common presenting symptom was abnormal uterine bleeding (40.6%, 13/32). Recurrent pregnancy loss (RPL) (15.6%, 5/32) and infertility (15.6%, 5/32) were common presenting symptoms as well. 62.5% (20/32) patients had a history of prior uterine instrumentation. Coexisting chronic endometritis was identified in 9.4% (3/32) of cases. Of the 5 RPL/infertility patients who underwent hysteroscopic resection of a PSN, 1 achieved a live birth.Conclusion: PSNs may be associated with abnormal uterine bleeding, recurrent pregnancy loss, infertility, history of prior uterine instrumentation, and chronic endometritis. Although a rare diagnosis, the presence of a PSN should be considered in patients presenting for infertility or recurrent pregnancy loss workup.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"146-149"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142142245","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

The effect of plerixafor on autologous stem cell mobilization, cell viability, and apheresis challenges. plerixafor对自体干细胞动员、细胞存活率和分离挑战的影响。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae080

Christian J Puzo, Philippa Li, Christopher A Tormey, Alexa J Siddon

{"title":"The effect of plerixafor on autologous stem cell mobilization, cell viability, and apheresis challenges.","authors":"Christian J Puzo, Philippa Li, Christopher A Tormey, Alexa J Siddon","doi":"10.1093/labmed/lmae080","DOIUrl":"10.1093/labmed/lmae080","url":null,"abstract":"Objective: The aim of this study was to determine the efficacy of plerixafor for hematopoietic stem cell (HSC) mobilization prior to autologous stem cell transplantation (aSCT) for patients with multiple myeloma (MM) and various lymphomas, using an oncologist-guided HSC collection goal and markers of cell viability.Methods: A retrospective chart review of all aSCT patients at Yale New Haven Hospital between 2017 and 2021 who met diagnostic criteria for MM, non-Hodgkin, or Hodgkin lymphoma (n = 382) was undertaken. Logistic regression evaluated plerixafor's effect on meeting the individual's HSC goal. The use of t-tests determined plerixafor's relationship to HSC yield and analysis of variance testing assessed its effect on cell viability.Results: Mobilization with granulocyte colony-stimulating factor (G-CSF) and plerixafor (odds ratio [OR] = 0.08; P < .05) relative to G-CSF alone was negatively associated with meeting the individual's HSC goal. Diffuse large B-cell lymphoma in patients mobilized with plerixafor yielded fewer HSCs than those without plerixafor (t = -2.78; P = .03). Mobilization regimen (P = .13) had no association with HSC viability. Mobilization failure with plerixafor was rare but occurred in patients with multiple risk factors, including exposure to several rounds of HSC-affecting chemotherapy.Conclusion: Plerixafor is effective across multiple diagnoses using an oncologist-driven HSC collection endpoint. Its association with mobilization failure is likely attributable to its use in patients predicted to be poor mobilizers.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"187-194"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305078","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

Identification of biomarkers associated with pathological tumor staging and their utility in the diagnosis and prognosis of prostate cancer. 鉴定与病理肿瘤分期相关的生物标志物及其在前列腺癌诊断和预后中的应用。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae059

Shiquan Xu, He Shi, Yiran Liu, Jing Lin, Xia Wu, Ruichun Lu, Yu Fan, Weiqiang Tan

{"title":"Identification of biomarkers associated with pathological tumor staging and their utility in the diagnosis and prognosis of prostate cancer.","authors":"Shiquan Xu, He Shi, Yiran Liu, Jing Lin, Xia Wu, Ruichun Lu, Yu Fan, Weiqiang Tan","doi":"10.1093/labmed/lmae059","DOIUrl":"10.1093/labmed/lmae059","url":null,"abstract":"Objective: Pathological tumor (pT) staging plays a crucial role in prostate cancer (PCa) diagnosis. This study aimed to identify pT stage-associated biomarkers and explored their utility in PCa prognosis.Methods: GSE69223 was used to identify potential targets differentially expressed between level 2 of pT staging (pT2) and level 3 of pT staging (pT3). Quantitative reverse transcriptase-polymerase chain reaction and immunohistochemistry were performed on tissues from patients with PCa to screen the pT stage-associated targets and to explore the prognostic value of these targets in PCa.Results: CENPI and SLC38A11 were most significantly upregulated, whereas ANO6 and KANK2 were mostly decreased in pT3 tumors compared with pT2 staging. ANO6 levels were negatively associated with preoperative prostate-specific antigen (PSA) levels, lymph node staging (N staging), Gleason score, and overall survival (OS); CENPI was positively associated with preoperative PSA levels, N staging, and OS, but was not associated with the Gleason score; SLC38A11 and KANK2 were not associated with OS. ANO6 and KANK2 were correlated with neutrophil markers, whereas CENPI was correlated with macrophage M2 types.Conclusion: We identified 4 reliable PCa biomarkers associated with pT staging that would be valuable for diagnosing and determining PCa prognosis.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"118-128"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141984261","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

Molecular pathology and computational profiling of Janus kinase 2 (JAK2) mutation in acute lymphoblastic leukemia: insights from a Pakistani cohort. 急性淋巴细胞白血病中 Janus 激酶 2 (JAK2) 突变的分子病理学和计算分析：来自巴基斯坦队列的启示。

Laboratory medicine Pub Date : 2025-03-10 DOI: 10.1093/labmed/lmae071

Sidra Maqsood, Saqib Hussain Ansari, Mamona Mushtaq, Azhar Abbas, Ali Muhammad Waryah, Zaheer Ul- Haq

{"title":"Molecular pathology and computational profiling of Janus kinase 2 (JAK2) mutation in acute lymphoblastic leukemia: insights from a Pakistani cohort.","authors":"Sidra Maqsood, Saqib Hussain Ansari, Mamona Mushtaq, Azhar Abbas, Ali Muhammad Waryah, Zaheer Ul- Haq","doi":"10.1093/labmed/lmae071","DOIUrl":"10.1093/labmed/lmae071","url":null,"abstract":"Background: JAK2 mutation plays a clinically significant role in the pathogenesis of acute lymphoblastic leukemia (ALL) by enhancing its oncogenicity. The study aimed to characterize the molecular pathology and computational profile of the JAK2 mutation in an ALL cohort of Pakistani origin.Methods: Ninety-three patients were enrolled in the current study. The disease diagnosis was confirmed via flow cytometry and karyotyping of bone marrow aspirate/blood. For the identification of causative gene variations and assessment of their potential impact, the JAK2 gene underwent direct sequencing and predictive computational and in silico structural analysis, respectively.Results: JAK2 mutations were detected in 10 (11%) patients. All mutations were missense with 1 being frameshift. Most mutations showed a similar pattern to the wild type but p.N673H+p.V674L+p.C675W (AAD699), p.V674F (AAD704), and p.V674L (AAD705) exhibited statistically significant stability loss. The triple mutation displayed reduced stability both globally and locally.Conclusion: The pattern of gene defects in JAK2 in the studied cohort showed a disruption in proper folding behavior, evident from increased gyration values, resulting in the hypothesis that these mutations may cause structural alterations in the JAK2 protein that lead to disease progression.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"136-145"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142006205","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