Laboratory medicine最新文献_第5页

NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review. NR3C2微缺失--假性醛固酮增多症1A型的一个未被充分认识的病因：病例报告和文献综述。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae005

Bobby L Boyanton, Yuri A Zarate, Brannon G Broadfoot, Thomas Kelly, Brendan D Crawford

{"title":"NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.","authors":"Bobby L Boyanton, Yuri A Zarate, Brannon G Broadfoot, Thomas Kelly, Brendan D Crawford","doi":"10.1093/labmed/lmae005","DOIUrl":"10.1093/labmed/lmae005","url":null,"abstract":"Objectives: Pseudohypoaldosteronism type 1A (PHA1A) is caused by haploinsufficiency of the mineralocorticoid receptor (MR). Heterozygous small insertions/deletions, transitions, and/or transversions within NR3C2 comprise the majority (85%-90%) of pathogenic copy number variants. Structural chromosomal abnormalities, contiguous gene deletion syndromes, and microdeletions are infrequent. We describe a neonate with PHA1A due to a novel NR3C2 microdeletion involving exons 1-2.Methods: Literature review identified 39 individuals with PHA1A due to NR3C2 microdeletions. Transmission modality, variant description(s), testing method(s), exon(s) deleted, and affected functional domain(s) were characterized.Results: In total, 40 individuals with NR3C2 microdeletions were described: 19 involved contiguous exons encoding a single MR domain; 21 involved contiguous exons encoding multiple MR domains. Transmission modality frequency was familial (65%), de novo (20%), or unknown (15%). Sequencing (Sanger or short-read next-generation) failed to detect microdeletions in 100% of tested individuals (n = 38). All were detected using deletion/duplication testing modalities. In 2 individuals, only microarray-based testing was performed; microdeletions were detected in both cases.Conclusion: Initial testing for PHA1A should rely on sequencing to detect the most common genetic alterations. Deletion/duplication analysis should be performed when initial testing is nondiagnostic. Most NR3C2 microdeletions are parentally transmitted, thus highlighting the importance of familial genetic testing and counseling.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"640-644"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141288","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

High-grade B-cell lymphoma with a quadruple-hit genetic profile including concurrent MYC, BCL2, BCL6, and CCND1 gene rearrangements. 高度B细胞淋巴瘤，具有四重基因突变，包括并发MYC、BCL2、BCL6和CCND1基因重排。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae017

Marie-France Gagnon, Reid G Meyer, Eric J Weaver, Adam J Wood, Dudley A Dupuy, Sudeep J Menachery, Min Shi, Linda B Baughn, Rhett P Ketterling, Jess F Peterson

{"title":"High-grade B-cell lymphoma with a quadruple-hit genetic profile including concurrent MYC, BCL2, BCL6, and CCND1 gene rearrangements.","authors":"Marie-France Gagnon, Reid G Meyer, Eric J Weaver, Adam J Wood, Dudley A Dupuy, Sudeep J Menachery, Min Shi, Linda B Baughn, Rhett P Ketterling, Jess F Peterson","doi":"10.1093/labmed/lmae017","DOIUrl":"10.1093/labmed/lmae017","url":null,"abstract":"Several reports of concurrent MYC, BCL2, BCL6, and CCND1 rearrangements in high-grade B-cell lymphoma (HGBL) have been recently described. Herein, we aimed to delineate the scope of this entity through a review of HGBL with a \"quadruple-hit\" genetic profile identified at our institution. We performed a retrospective review (2015-2023) at our institution of B-cell lymphoma (BCL) cases that were evaluated with concurrent MYC, BCL2, and BCL6 break-apart and IGH::MYC and IGH::CCND1 dual-color dual-fusion fluorescence in situ hybridization studies. Of 203 cases meeting inclusion criteria, 2 (1%) with a quadruple-hit genetic profile were identified. Case 1 represented a 59-year-old female with widespread lymphadenopathy and a diagnosis of HGBL who exhibited primary refractoriness to dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, and rituximab (DA-EPOCH-R) chemotherapy. Case 2 represented a 58-year-old male with mediastinal and abdominal lymphadenopathy and a diagnosis of large BCL who died from disease after 1 cycle of DA-EPOCH-R chemotherapy. Similarly, a literature review of 7 previously reported cases of HGBL with a quadruple-hit profile also demonstrated aggressive disease behavior. Our study adds 2 new cases to the rarely encountered quadruple-hit HGBL, and a brief meta-analysis of the 9 available cases indicates aggressive disease behavior conferred by this constellation of genetic events.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"649-654"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140208742","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

Laboratory stewardship perceptions and testing patterns at a pediatric tertiary care center. 儿科三级医疗中心的实验室管理认知和检测模式。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae003

Tejas S Desai, Ken Tang, Viveak Kaul, Ivan M Blasutig, Melanie Buba

{"title":"Laboratory stewardship perceptions and testing patterns at a pediatric tertiary care center.","authors":"Tejas S Desai, Ken Tang, Viveak Kaul, Ivan M Blasutig, Melanie Buba","doi":"10.1093/labmed/lmae003","DOIUrl":"10.1093/labmed/lmae003","url":null,"abstract":"Background: Despite stewardship efforts, laboratory testing overuse persists across medicine.Objectives: To understand laboratory stewardship perceptions and testing patterns at a tertiary care pediatric hospital so that we could identify potential improvement opportunities.Methods: An electronic survey exploring laboratory stewardship was sent to all pediatric medicine resident and staff physicians. Laboratory testing data were also assessed for patterns of testing and overuse.Results: The survey response rate was 54% (43/80). The results indicated good familiarity with stewardship but poor familiarity with testing specifics (eg, cost). A mobile reference application was the most preferred quality improvement intervention, and online modules were the least desired. Overuse was apparent, with as many as 53% of laboratory tests being repeated within 7 days and only half of repeated tests subsequently yielding abnormal results.Conclusions: Altogether, the data we collated demonstrated poor understanding of laboratory stewardship and substantial repeat testing with few abnormal results. These study findings suggest that laboratory stewardship is lacking at our center, and that multiple improvement opportunities exist.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"571-579"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992242","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 thiol/disulfide balance is shifted towards oxidation in psoriatic arthritis compared to controls and is associated with higher disease activity. 与对照组相比，银屑病关节炎患者体内的硫醇/二硫化物平衡偏向于氧化，这与疾病活动性增高有关。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae014

Ahmet Kor, Selçuk Akan, Esra Fırat Oğuz, Yüksel Maraş, Salim Neşelioğlu, Şükran Erten

{"title":"The thiol/disulfide balance is shifted towards oxidation in psoriatic arthritis compared to controls and is associated with higher disease activity.","authors":"Ahmet Kor, Selçuk Akan, Esra Fırat Oğuz, Yüksel Maraş, Salim Neşelioğlu, Şükran Erten","doi":"10.1093/labmed/lmae014","DOIUrl":"10.1093/labmed/lmae014","url":null,"abstract":"Objective: This study was designed to compare thiol/disulfide and ischemia-modified albumin (IMA) levels between psoriatic arthritis (PsA) and healthy controls and evaluate the correlation between these molecules and the disease activity scores used in PsA.Methods: A total of 63 PsA patients and 49 healthy volunteers were included in the study. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), modified disease activity score 28 (DAS28), and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were used as disease activity indices for PsA patients. Calculations of native thiol (-SH), disulfide (-SS), and total thiol (-SH+-SS) molecules were made by the automatic spectrophotometric method, and the albumin cobalt binding test was used to measure IMA levels.Results: In the PsA group, -SS/-SH and -SS/(-SH+-SS) levels were higher and -SH/(-SH+-SS) levels were lower than in controls. In the linear regression analysis, a significant correlation relationship was detected between DAS28-erythrocyte sedimentation rate (ESR) and -SS/(-SH+-SS) (β = 0.795, CI 95%, 0.196-1.395; P = .010), -SH/(-SH+-SS) (β = -0.475, CI 95%, 0.114-0.836; P = .010) and IMA (β = 3.932, CI 95%, 0.859-7.005; P = .013). Additionally, a significant correlation was detected between IMA and BASDAI and BASFI.Conclusion: In PsA, thiol/disulfide homeostasis has shifted in favor of disulfide as an oxidative indicator. Serum thiol/disulfide levels are correlated with PsA disease activity indices.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"633-639"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140295739","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 Arg/Arg genotype of leptin receptor gene Gln223Arg polymorphism may be an independent risk factor for nonalcoholic fatty liver disease. 瘦素受体基因 Gln223Arg 多态性的 Arg/Arg 基因型可能是非酒精性脂肪肝的独立风险因素。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae016

Mahsa Navari, Fatemeh Zarei, Shiva Sayedsalehi, Touraj Mahmoudi, Mitra Rostami, Aidin Mahban, Gholamreza Rezamand, Asadollah Asadi, Reza Dabiri, Hossein Nobakht, Hamid Farahani, Seidamir Pasha Tabaeian, Mohammad Reza Zali

{"title":"The Arg/Arg genotype of leptin receptor gene Gln223Arg polymorphism may be an independent risk factor for nonalcoholic fatty liver disease.","authors":"Mahsa Navari, Fatemeh Zarei, Shiva Sayedsalehi, Touraj Mahmoudi, Mitra Rostami, Aidin Mahban, Gholamreza Rezamand, Asadollah Asadi, Reza Dabiri, Hossein Nobakht, Hamid Farahani, Seidamir Pasha Tabaeian, Mohammad Reza Zali","doi":"10.1093/labmed/lmae016","DOIUrl":"10.1093/labmed/lmae016","url":null,"abstract":"Background: Given that obesity and insulin resistance play key roles in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and the connection between leptin and these metabolic diseases, the association between NAFLD and a leptin receptor gene (LEPR) polymorphism was examined.Methods: In this genetic case-control association study, 144 biopsy-proven NAFLD patients and 144 controls were genotyped for the LEPR gene Gln223Arg (rs1137101) polymorphism using the polymerase chain reaction-restriction fragment length polymorphism method.Results: The distributions of genotypes and alleles of Gln223Arg variant were in accordance with the Hardy-Weinberg equilibrium in the study groups (P > .05). Multivariate logistic regression analysis showed that the LEPR Gln223Arg Arg/Arg genotype was an independent risk factor for NAFLD; the Arg/Arg genotype, compared with the Gln/Gln genotype, was associated with a 2.09-fold increased risk for NAFLD (P = .036, odds ratio = 2.09 [95% CI = 1.31-5.95]).Conclusions: We found that the LEPR Gln223Arg Arg/Arg genotype was independently associated with a more than 2-fold rise in biopsy-proven NAFLD risk. Our findings, however, need to be corroborated by further studies.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"590-594"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140208743","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

Diagnostic and prognostic value of circulating exosomal glypican-1 in pancreatic cancer: a meta-analysis. 循环外泌体 glypican-1 在胰腺癌中的诊断和预后价值：一项荟萃分析。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae013

Zengyun Qiao, Enbo Wang, Boyang Bao, Xiaodong Tan, Hailong Chen, Dong Wang, Liu Yuan

{"title":"Diagnostic and prognostic value of circulating exosomal glypican-1 in pancreatic cancer: a meta-analysis.","authors":"Zengyun Qiao, Enbo Wang, Boyang Bao, Xiaodong Tan, Hailong Chen, Dong Wang, Liu Yuan","doi":"10.1093/labmed/lmae013","DOIUrl":"10.1093/labmed/lmae013","url":null,"abstract":"Background: Pancreatic cancer (PC) is usually detected in the advanced stages. Liquid biopsy has become a revolutionary strategy for cancer diagnosis and prognosis prediction. This study aims to investigate the diagnostic and prognostic value of circulating exosomal glypican-1 (GPC-1) in PC.Methods: We systematically searched relevant studies. For diagnostic accuracy, pooled sensitivity and specificity and the area under the summary receiver operating characteristic curve (AUC) were calculated. Regarding prognostic value, hazard ratios (HRs) and 95% CIs for overall survival (OS) were summarized by using a random-effects model.Results: We found 8 studies that examined the diagnostic value of circulating exosomal GPC-1 in PC, and 3 studies that investigated its prognostic value. Pooled sensitivity and specificity were 0.88 (95% CI, 0.65-0.97) and 0.86 (95% CI, 0.72-0.94). The AUC was 0.93 (95% CI, 0.90-0.95). Prognostic analysis showed that higher levels of circulating exosomal GPC-1 were associated with poorer OS in PC patients, and the combined HR for OS was 4.59 (random-effects model, 95% CI = 1.17-18.03, P = .022). The results of both studies were robust and neither had publication bias.Conclusion: Circulating exosomal GPC-1 may be used as a diagnostic and prognostic biomarker for PC. However, this result needs to be validated by further research using a larger sample size.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"543-552"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103109","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

DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature. 在原发性和转移性肺腺癌中检测到的 DNA 变异：病例报告和文献综述。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae019

Christina Kelly, Caitlin Raymond, Song Han, Youmin Lin, Linyijia Chen, Gengming Huang, Jianli Dong

引用次数: 0

Noninvasive biomarkers for lupus nephritis. 狼疮肾炎的无创生物标志物。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae015

Ting Liu, Yun-Long Yang, Yan Zhou, Yong-Mei Jiang

引用次数: 0

Rainbow phlebotomy collection and urine aliquots for emergency department add-on testing in the era of pandemic-driven supply shortages. 在大流行病导致供应短缺的时代，彩虹抽血采集和尿液等分，用于急诊科附加检验。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae011

Scott Potter, Joseph W Rudolf, Lauren N Pearson

{"title":"Rainbow phlebotomy collection and urine aliquots for emergency department add-on testing in the era of pandemic-driven supply shortages.","authors":"Scott Potter, Joseph W Rudolf, Lauren N Pearson","doi":"10.1093/labmed/lmae011","DOIUrl":"10.1093/labmed/lmae011","url":null,"abstract":"Background: Rainbow blood draws for add-on testing in the emergency department (ED) are a common practice at our institution. We sought to determine the prevalence of this practice among reference laboratory clients and characterize the impact of pandemic-driven supply shortages.Methods: This cross-sectional study surveyed 354 client laboratories to understand specimen collection practices in specific clinical environments and how these practices may have been affected by supply chain shortages. Data analysis by descriptive statistics was performed in Qualtrics.Results: A total of 138 laboratories took the survey (39% response rate) with 57% indicating that their ED performed rainbow draws. Of these, 16% have a formal policy regarding rainbow draws, and 76% of respondents indicated that their institution was required to modify practices due to pandemic-driven supply shortages. A total of 19% indicated they routinely collect multiple urine aliquots for add-on testing.Conclusion: Rainbow draws and collection of urine aliquots in the ED for add-on testing are relatively common practices, with few institutions maintaining formal policies regarding the practice. Pandemic-driven supply chain shortages affected a majority of respondent laboratories and local cost-benefit analysis regarding extra specimen collection is recommended to limit waste of laboratory resources.","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"585-589"},"PeriodicalIF":0.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11371900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bone marrow reinvestigation leading to the diagnosis of VEXAS syndrome. 通过骨髓再探查诊断出 VEXAS 综合征。

Laboratory medicine Pub Date : 2024-09-04 DOI: 10.1093/labmed/lmae020

Bernhard Strasser, Wolfgang Kranewitter, Harald Hofer, Alexander Haushofer

引用次数: 0