Laboratory medicine最新文献

{"title":"Patient-derived reference intervals for alkaline phosphatase to support appropriate utility for isoenzymes determinations and hypophosphatasia.","authors":"Jonathan Joseph, Ibrahim A Hashim","doi":"10.1093/labmed/lmae037","DOIUrl":"10.1093/labmed/lmae037","url":null,"abstract":"<p><strong>Background: </strong>Appropriate age- and sex-specific reference intervals for alkaline phosphatase (ALP) are essential to identify patients with hypophosphatasia (low ALP) and to avoid unnecessary ALP isoenzymes analysis (elevated ALP). This study used patient ALP historical data to statistically derive sex- and age-specific reference intervals.</p><p><strong>Methods: </strong>The ALP values reported as part of clinical management during an 18 month period (from July 2021 to March 2023) were obtained. Following logarithmic transformation of ALP data and repeated removal of outliers, cumulative frequency plots were generated using a modified Hoffmann approach to derive age- and sex-specific reference intervals.</p><p><strong>Results: </strong>Age-specific ALP reference intervals ranged from 110 to 250 and 120 to 295 U/L for males and females <15 days old, 80 to 400 and 90 to 380 U/L for males and females 15 days to 1 year old, 105 to 280 and 90 to 290 U/L for males and females 1 to 10 years old, 75 to 300 and 90 to 300 U/L for males and females 10 to 13 years old, 80 to 300 and 60 to 175 U/L for males and females 13 to 15 years old, 55 to 150 and 60 to 180 U/L for males and females 15 to 18 years old, and 55 to 140 and 60 to 147 U/L for male and female adults, respectively (>18 years old).</p><p><strong>Conclusion: </strong>By applying derived ranges, a retrospective review of ALP isoenzymes would eliminate 24.5% of requests. Additionally, 9 neonates would have required investigation for possible hypophosphatasia.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"717-723"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176927","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}

{"title":"Expect the unexpected: endocarditis caused by Legionella feeleii.","authors":"Angelica Moran, Dennise E Otero Espinal, Megan Parilla, Kathleen G Beavis, Kathleen M Mullane, Vera Tesic","doi":"10.1093/labmed/lmae029","DOIUrl":"10.1093/labmed/lmae029","url":null,"abstract":"<p><p>We report a fatal case of Legionella feeleii endocarditis in a post-lung transplant patient. The diagnosis was delayed, as routine microbiological testing of nonrespiratory specimens does not account for extrapulmonary Legionella, and urine antigen testing only reliably detects Legionella pneumophila serogroup 1. This case also illustrates the utility of molecular sequencing for blood culture-negative endocarditis.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"791-794"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082914","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}

{"title":"Early detection of myocardial infarction with reference to baseline levels during health: impact on biological variation of high-sensitivity cardiac troponin.","authors":"Alan H B Wu, Sally Graglia","doi":"10.1093/labmed/lmae043","DOIUrl":"10.1093/labmed/lmae043","url":null,"abstract":"<p><p>A 78-year-old male was seen in the emergency department (ED) with chest pain. Fifteen months earlier, he had presented to the ED with shoulder and elbow pain. High-sensitivity cardiac troponin I (hs-cTnI) testing was conducted at that time, which produced normal results of 10 and 13 ng/L (cutoff <48 ng/L). During the current admission, his electrocardiogram was unremarkable, with a borderline prolonged PR interval noted. The patient's hs-cTnI results were 25, 47, and 254 ng/L at 0, 1, and 7 hours, respectively. He was diagnosed with demand ischemia and admitted to the hospital. The detection of acute myocardial infarction in this case was made during the first sample collection (t = 0), despite the fact that this result was well within the normal range.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":"808-810"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312555","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}

{"title":"Associations between glycemic status and the ratio of γ-glutamyl transferase to HDL-C in middle-aged women.","authors":"Ichiro Wakabayashi","doi":"10.1093/labmed/lmae084","DOIUrl":"https://doi.org/10.1093/labmed/lmae084","url":null,"abstract":"<p><strong>Objective: </strong>The ratio of γ-glutamyl transferase to HDL-C (GGT/HDL-C) has been proposed as a discriminator of metabolic syndrome. The purpose of this study was to elucidate the relationship between GGT/HDL-C and glycemic status in women.</p><p><strong>Methods: </strong>The subjects were 18,218 middle-aged women who had received annual health checkups in their workplaces. They were divided by habitual alcohol intake into nondrinkers, occasional drinkers, regular light drinkers, and regular heavy drinkers.</p><p><strong>Results: </strong>In overall subjects, hemoglobin A1c level and prevalence of diabetes tended to be higher in subjects with higher GGT/HDL-C, and GGT/HDL-C tended to be higher with an increase of alcohol intake. The odds ratio for hyperglycemia in subjects with vs. subjects without high GGT/HDL-C tended to be lower with an increase of alcohol intake, and the association between high GGT/HDL-C and hyperglycemia was significantly weaker in regular heavy drinkers than in nondrinkers.</p><p><strong>Conclusion: </strong>In middle-aged women, there were positive associations of GGT/HDL-C with alcohol intake and glycemic status, and the association between GGT/HDL-C and glycemic status tended to be weaker with an increase of alcohol intake. Thus, alcohol use should be taken into account when GGT/HDL-C is used as a discriminator of diabetes.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564440","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}

{"title":"Analysis of platelet transfusion efficacy during extracorporeal membrane oxygenation (ECMO) treatment in pediatric patients post-cardiac surgery-a retrospective cohort study.","authors":"Xusheng Chen, Yongtao Yang","doi":"10.1093/labmed/lmae087","DOIUrl":"https://doi.org/10.1093/labmed/lmae087","url":null,"abstract":"<p><strong>Background: </strong>Postoperative extracorporeal membrane oxygenation (ECMO) may be necessary for pediatric patients following cardiac surgery, with associated risks of thrombocytopenia and bleeding. Prophylactic platelet transfusions are utilized to mitigate these risks, but the effectiveness of platelet transfusion cannot be reliably predicted. The aim of this study was to investigate the effect of platelet transfusion during postoperative treatment with ECMO in children undergoing cardiac surgery and to explore the optimal transfusion thresholds to reduce the number of platelet transfusions in patients and reduce the risk of death.</p><p><strong>Methods: </strong>We included in our study patients from the Pediatric Cardiac Surgery Department at the First Affiliated Hospital of Tsinghua University who underwent cardiac surgery and received ECMO treatment from January 1, 2019, to December 31, 2023, and received platelets transfusion at least once during the ECMO therapy. The platelet counts were determined both before and 24 hours posttransfusion of the platelet product. The corrected count increment (CCI) was calculated for the effectiveness estimation of platelet transfusion. The research subjects were divided into 3 groups based on the platelet count before transfusion (pretransfusion platelet count ≤30×109/L was the low-threshold group, pretransfusion count 31-50×109/L was the medium-threshold group, and ≥51×109/L was the high-threshold group) and the effective rates of each group were calculated.</p><p><strong>Results: </strong>A total of 11 patients received 47 platelet transfusions, an average of 4.27 ± 1.67 per patient. According to the 24-hour postinfusion platelet (Plt) corrected critical control increase index (24-hour CCI) ≥4500, the infusion was considered to be effective, and ineffective when the CCI was <4500. Out of these, 22 transfusions (46.8%) proved effective, whereas 25 (53.2%) were deemed ineffective. The effective transfusion rates across the 3 groups were 69.2%, 50%, and 27.7%, respectively.</p><p><strong>Conclusion: </strong>The efficacy of platelet transfusion may be higher if a low threshold of platelet transfusion is chosen during ECMO treatment, on the premise of ensuring life safety.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562964","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}

{"title":"The utility of an algorithm based on procalcitonin monitoring in patients with sepsis.","authors":"Alicia de Lózar de la Viña, Gloria Andrade Vivero, Eduardo Palencia Herrejón, Eva Márquez Liétor, Tamar Talaván Zanón, Elia Pérez-Fernández, Fernando Cava Valenciano, Eduardo Tamayo Gómez","doi":"10.1093/labmed/lmae074","DOIUrl":"10.1093/labmed/lmae074","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to develop and validate an algorithm based on procalcitonin (PCT) monitoring to predict the prognosis of patients with sepsis.</p><p><strong>Design: </strong>The design was a retrospective and observational prospective study.</p><p><strong>Setting: </strong>The study was set in intensive care units (ICUs) in 2 different hospitals in Spain.</p><p><strong>Patients: </strong>Patients in the study included 101 patients with sepsis aged ≥18 years.</p><p><strong>Interventions: </strong>In the retrospective study, PCT results from patients admitted to the ICU in 2011-2012 were collected. In the prospective study, PCT was determined at specific time points as indicated by the algorithm from March 2018 to April 2019. The primary outcome measure, 28-day mortality, was the main variable of interest.</p><p><strong>Results: </strong>The study developed an algorithm based on early PCT monitoring for predicting the prognosis of patients with sepsis. The algorithm was initially developed retrospectively in 1 cohort and subsequently validated prospectively in another cohort.</p><p><strong>Conclusions: </strong>The developed algorithm provides information on the prognosis of patients with sepsis, distinguishing between those with a good prognosis and those with a poor prognosis (defined as mortality).</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515513","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}

{"title":"Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.","authors":"Natalia Lewandowska, Michal Ordak","doi":"10.1093/labmed/lmae082","DOIUrl":"https://doi.org/10.1093/labmed/lmae082","url":null,"abstract":"<p><p>Cartilage hair hypoplasia (CHH) can lead to the development of anemia as a possible complication of this rare genetic disease. Despite various publications on anemia in CHH patients, a comprehensive review on this topic has not been conducted. This article reviews publications on anemia in CHH patients published from 1981 to 2022. Most authors have reported macrocytic anemia and blood transfusion as a common treatment approach in this patient group. Recommended guidelines for managing anemia in CHH patients include iron chelation therapy for those requiring multiple blood transfusions, regular assessment of anemia symptoms, red blood cell parameters, and immune system function. Future studies should evaluate the erythroid system in a larger cohort of CHH patients, considering key factors such as concurrent illnesses, age, height, and weight.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335329","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}

{"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":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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}

{"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":"<p><p>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.</p>","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}

{"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":"<p><strong>Background: </strong>Despite stewardship efforts, laboratory testing overuse persists across medicine.</p><p><strong>Objectives: </strong>To understand laboratory stewardship perceptions and testing patterns at a tertiary care pediatric hospital so that we could identify potential improvement opportunities.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","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}