Kala F Schilter, Shivani Kapoor, Brandon A Smith, Ayofemi Saleem, Samantha J Scott, Dana Batchelor, Kathryn A Stoll, Qian Nie, Honey V Reddi
{"title":"Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.","authors":"Kala F Schilter, Shivani Kapoor, Brandon A Smith, Ayofemi Saleem, Samantha J Scott, Dana Batchelor, Kathryn A Stoll, Qian Nie, Honey V Reddi","doi":"10.1093/labmed/lmad075","DOIUrl":"10.1093/labmed/lmad075","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to compare the performance of direct amplification of viral nucleic acid from transport medium to extracted nucleic acid for polymerase chain reaction (PCR), sequencing, and genotyping applications.</p><p><strong>Methods: </strong>XpressAmp lysate and extracted total nucleic acid from viral transport medium containing nasopharyngeal specimens were evaluated across different molecular applications to determine performance characteristics.</p><p><strong>Results: </strong>SARS-CoV-2 quantitative PCR and angiotensin-converting enzyme (ACE) genotyping assays worked well with XpressAmp lysate, almost equal with or better than extracted nucleic acid in some specimens. However, XpressAmp completely failed to perform in next-generation sequencing for strain typing. Both protocols failed to detect ACE2 expression in viral transport medium.</p><p><strong>Conclusion: </strong>Direct amplification of viral nucleic acid from viral transport medium containing nasopharyngeal specimen works well for molecular assays with low thresholds of quality; however, it does have limitations with assays that require high quality nucleic acid for input. Use of the XpressAmp protocol significantly improves turnaround time and allows for easy ramp-up of PCR and genotyping assays.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"267-270"},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9965258","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}
Rubiceli Hernández-Peña, Eric Jonathan Maciel-Cruz, Lourdes Del Carmen Rizo-De La Torre, Francisco Javier Perea-Díaz, Bertha Ibarra-Cortés
{"title":"Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.","authors":"Rubiceli Hernández-Peña, Eric Jonathan Maciel-Cruz, Lourdes Del Carmen Rizo-De La Torre, Francisco Javier Perea-Díaz, Bertha Ibarra-Cortés","doi":"10.1093/labmed/lmad077","DOIUrl":"10.1093/labmed/lmad077","url":null,"abstract":"<p><strong>Objective: </strong>To identify the TMPRSS6 gene variants in Mexican patients with iron treatment refractoriness, to describe hematological and iron profile parameters, and to use bioinformatic prediction and protein modeling tools to assess a possible biological impact for the detected missense variants.</p><p><strong>Methods: </strong>Nineteen patients referred with iron treatment refractoriness were studied. Peripheral blood was collected to determine hematic cytometry, iron profile, hemoglobin electrophoresis, and quantification. Molecular screening was carried out for exons 15 through 18 of the TMPRSS6 gene by Sanger sequencing and for frequent thalassemia variants by amplification-refractory mutation system-polymerase chain reaction (PCR) and gap-PCR. The biological impact of the detected missense variants was assessed using bioinformatic prediction and protein modeling tools.</p><p><strong>Results: </strong>We found 5 genetic variants in the matriptase-2 catalytic domain: 1 at intron-15/exon-16 junction (rs60484081) and 4 exonic, 3 missense (rs377054987, p.Gly626Asp; rs1384127820, p.Ser672Thr; rs855791, p.Val727Ala) and 1 synonymous (rs2235321, p.Tyr730=), with frequencies ranging from 0.18 to 0.53. No significant differences were observed in the hematological parameters or iron profile, considering type and number of variants. Bioinformatic predictions suggested a possible biological impact only for rs377054987.</p><p><strong>Conclusions: </strong>The TMPRSS6 variants observed in Mexican patients with oral iron treatment refractoriness have high frequencies; nevertheless, their relationship with hematological and iron profile parameters needs further research. The possible biological impact for rs377054987 is due to size and amino acid hydrophobicity changes and hydrogen bond modifications.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"277-284"},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9990940","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":"Frequency of antithyroid antibodies in patients with primary biliary cholangitis.","authors":"Mariam Ghozzi, Amani Mankai, Zeineb Chedly, Ikram Mlika, Wiem Manoubi, Sarra Melayah, Ibtissem Ghedira","doi":"10.1093/labmed/lmad080","DOIUrl":"10.1093/labmed/lmad080","url":null,"abstract":"<p><strong>Objective: </strong>Primary biliary cholangitis (PBC) is an autoimmune disease of liver that may be associated with other conditions, including autoimmune thyroid diseases. We aimed to investigate the frequency of anti-thyroperoxidase antibodies (TPO-Ab), antithyroglobulin antibodies (TG-Ab), and anti-thyrotropin receptor antibodies (TSHR-Ab) in Tunisian patients with PBC.</p><p><strong>Methods: </strong>Sera of 80 patients with PBC were collected over a 9-year period. A total of 189 healthy blood donors (HBD) were included in the control group. Measurements of TPO-Ab and TG-Ab were performed using indirect enzyme-linked immunosorbent assay (ELISA). Competitive ELISA was used to assess TSHR-Ab.</p><p><strong>Results: </strong>Antithyroid antibodies (ATA) were significantly more frequent in PBC patients than in the control group (13.7% vs 1.6%; P < 10-3). Out of 11 patients with ATA, 10 (90.9%) were female. Nine patients and 2 HBD had TPO-Ab (11.2% vs 1%; P < 10-3). TG-Ab were more frequent in patients than in healthy subjects but the difference was not statistically significant (6.2% vs 1.6%; P = .1). TPO-Ab and TG-Ab were present together in 3 patients (3.7%). TSHR-Ab were absent in patients and controls.</p><p><strong>Conclusion: </strong>This study shows that PBC is associated with a high frequency of ATA but not TG-Ab or TSHR-Ab.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"304-309"},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10082376","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":"Sixty years of conjecture over a urinary biomarker: a step closer to understanding the proposed link between anxiety and urinary pyrroles.","authors":"Angela Sherwin, Ian C Shaw","doi":"10.1093/labmed/lmad086","DOIUrl":"10.1093/labmed/lmad086","url":null,"abstract":"<p><strong>Objective: </strong>For over 60 years there has been conjecture about the identity of an Ehrlich's test positive pyrrole (Mauve Factor) reputed to be a biomarker for psychological disorders, including anxiety. We reviewed studies that attempt to identify Mauve Factor and subjected authentic standards of the 2 main candidates, kryptopyrrole and hydroxypyrrole, to the Ehrlich's reaction.</p><p><strong>Methods: </strong>Modified Ehrlich's test for kryptopyrrole and hydroxypyrrole were applied to urine samples from 10 volunteers, anxious and nonanxious.</p><p><strong>Results: </strong>Based on the mechanistic chemistry of Ehrlich's reaction and reactions of the 2 compounds, Mauve Factor cannot be hydroxypyrrole. Analyses of urine samples from volunteers, identified by the Generalized Anxiety Disorder - 7 item scale (GAD-7 ≥10; n = 5) and control urine samples (GAD-7 <10; n = 5) using a kryptopyrrole calibration graph, show that concentrations are similar in both groups.</p><p><strong>Conclusion: </strong>Kryptopyrrole may be the elusive Mauve Factor. Its possible origin from stercobilin via gut microbiome-mediated metabolism, its link to gut-mediated neurological effects via γ-aminobutyric acid (GABA) receptors, and its predicted interaction with Zn2+ and consequent impact on zinc homeostasis are discussed. The GAD-7 scale does not differentiate between state and trait anxiety and as such, the minimal difference in pyrrole levels between volunteer groups requires further study.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"334-340"},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10220580","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}
Jongmin Kim, Hye Ju Yeo, Woo Hyun Cho, Hyun-Ji Lee
{"title":"Predictors of mortality and transfusion requirements in venoarterial extracorporeal membrane oxygenation patients.","authors":"Jongmin Kim, Hye Ju Yeo, Woo Hyun Cho, Hyun-Ji Lee","doi":"10.1093/labmed/lmad089","DOIUrl":"10.1093/labmed/lmad089","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to evaluate the prognostic impact of variables, including thrombocytopenia and the amount of platelet transfusion, for predicting survival in venoarterial extracorporeal membrane oxygenation (ECMO) recipients. Additionally, we aimed to identify the predictors of increased transfusion requirement during venoarterial ECMO support.</p><p><strong>Methods: </strong>All patients who received venoarterial ECMO between December 2008 and March 2020 were retrospectively analyzed. Univariate and multivariate Cox regressions were used to evaluate in-hospital mortality according to variables including thrombocytopenia and daily average of platelet concentrate transfusion. Stepwise multiple linear regression analysis was used to identify independent predictors for transfusion requirements.</p><p><strong>Results: </strong>Analysis of 218 patients demonstrated severe thrombocytopenia as an independent predictor of in-hospital mortality (hazard ratio = 2.840, 95% CI: 1.593-5.063, P < .001), along with age, pre-ECMO cardiac arrest, and pH. In contrast, the amount of platelet transfusion was not associated with in-hospital mortality. Multiple variables, including the type of indication for ECMO were associated with transfusion requirements.</p><p><strong>Conclusion: </strong>Our findings identified severe thrombocytopenia as an independent prognostic factor of in-hospital mortality. However, daily average platelet transfusion was not associated with survival outcomes. Additionally, our study identified predictive variables of increased transfusion requirements.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"347-354"},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10598267","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":"Correction to: DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature.","authors":"","doi":"10.1093/labmed/lmae032","DOIUrl":"https://doi.org/10.1093/labmed/lmae032","url":null,"abstract":"","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":"8 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140653371","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":"Verifying the nonreporting hemolysis index for potassium, phosphate, magnesium, AST, LDH, iron, CA 19-9, and vitamin D, using Beckman Coulter AU5800 and DxI800 automated analyzers.","authors":"Samuel Sheerin","doi":"10.1093/labmed/lmae027","DOIUrl":"https://doi.org/10.1093/labmed/lmae027","url":null,"abstract":"BACKGROUND\u0000Hemolysis is a common reason for nonreporting results in biochemistry and is measured using the hemolysis index (HI), with nonreporting limits set for analytes by manufacturers.\u0000\u0000\u0000OBJECTIVE\u0000To verify the nonreporting HI limit for potassium, phosphate, magnesium, aspartate aminotransferase (AST), lactate dehydrogenase (LDH), iron, CA19-9, and vitamin D on the Beckman Coulter AU5800/DxI800 analyzers.\u0000\u0000\u0000METHOD\u0000Hemolysate was created from EDTA-lined tubes of whole blood using an osmotic shock procedure. The hemolysate underwent serial dilutions with saline and was spiked in paired serum. The delta changes in HI and analyte concentration were measured, assessed using regression analysis, and compared against calculated reference change values.\u0000\u0000\u0000RESULTS\u0000A linear relationship between increasing HI and increasing analyte concentration (R2 > 0.9) was observed for potassium (y = 0.8864x), phosphate (y = 0.1079x), magnesium (y = 0.0678x), AST (y = 29.035x), and LDH (y = 350x). Increasing HI values did not have a linear effect on iron (y = -0.2544x), CA19-9 (y = 2.7019x), or vitamin D (y = 8.036x) concentrations.\u0000\u0000\u0000CONCLUSION\u0000The results from this experiment support increasing the HI nonreporting limit to 100 mg/dL for potassium; 200 mg/dL for magnesium; and 300 mg/dL for phosphate, CA19-9, and vitamin D. The iron assay is not affected by hemolysis as high as 500 mg/dL. The current HI nonreporting limit of 50 mg/dL is appropriate for LDH.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140688821","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}
Se-eun Koo, Jinyoung Hong, Kuenyoul Park, Seongsoo Jang
{"title":"Current status of testing intervals for antiphospholipid syndrome testing: a 13-year retrospective national data analysis in South Korea.","authors":"Se-eun Koo, Jinyoung Hong, Kuenyoul Park, Seongsoo Jang","doi":"10.1093/labmed/lmae025","DOIUrl":"https://doi.org/10.1093/labmed/lmae025","url":null,"abstract":"OBJECTIVE\u0000To assess the appropriateness of laboratory testing intervals and antiphospholipid syndrome (APS) incidence.\u0000\u0000\u0000METHODS\u0000Between January 2010 and August 2022, insurance claims data of patients with disease codes for other thrombophilia (D68.6) and APS (V253) were retrieved in South Korea. Patients who received antiphospholipid antibody tests more than twice were classified as having suspected APS. The interval between the first 2 antiphospholipid antibody tests was evaluated in the patients with suspected APS. Patients with suspected APS who received anticoagulants for >180 days were classified as having APS.\u0000\u0000\u0000RESULTS\u0000Overall, 8656 patients were classified as having suspected APS. The testing interval for the first 2 tests in patients with suspected APS was <6 and <12 weeks in 11.1% and 20.6% of cases, respectively, in 2010, gradually increasing to 21.0% and 35.4%, respectively, in 2021. Subsequently, 4344 patients were classified as having APS, with 65.0% being female. Only 330 patients were diagnosed with APS in 2021, down from 436 in 2020.\u0000\u0000\u0000CONCLUSION\u0000This study showed a gradual increase in patients receiving antiphospholipid antibody testing with an inappropriate short-term interval, underscoring the need for laboratory stewardship to ensure an appropriate interval for APS testing.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":"35 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140699624","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":"Patent blue interferes with the measurement of lipemia index in a patient with sentinel lymph node.","authors":"Keiichi Nakano, Masanori Seimiya, Kojiro Yamazaki, Keiko Yasuda, N. Yamashita, Hideki Goto, Takanori Teshima","doi":"10.1093/labmed/lmae028","DOIUrl":"https://doi.org/10.1093/labmed/lmae028","url":null,"abstract":"Lipids interfere with absorbance measurements conducted using colorimetric methods. To monitor lipemia, some systems measure absorbance using an analyzer. This report describes a novel case of interference with the lipemia index without lipemia. A 64-year-old woman with giant basal cell carcinoma underwent resection and sentinel lymph node biopsy. The patient had been subcutaneously injected with patent blue during sentinel lymph node resection. After surgery, her serum and urine were yellow-green, and the lipemia index, calculated by measuring absorbance at 658 nm (main wavelength) and 694 nm (secondary wavelength) using a JCA-BM8040 chemistry analyzer, was high. The absorbance spectrum of the patient's serum and patent blue solution were compared to determine the cause of the high lipemia index. The patient's serum and the patent blue solution showed absorption at wavelengths between 540 and 698 nm. Moreover, the absorbance was concentration-dependent for patent blue. These results thus indicated that the patient's serum contained patent blue. Here, we report a case wherein patent blue affected the lipemia index. Thus, it must be noted that patent blue injection may yield inaccurate results when evaluating lipemia index.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":"68 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140700000","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":"Bone marrow findings post allogeneic transplant for myeloproliferative neoplasms and chronic myelomonocytic leukemia with increased fibrosis.","authors":"Srishti Gupta, Elizabeth L Courville","doi":"10.1093/labmed/lmae018","DOIUrl":"https://doi.org/10.1093/labmed/lmae018","url":null,"abstract":"BACKGROUND\u0000Allogeneic hematopoietic stem cell transplant for myeloid neoplasms with increased fibrosis is uncommon; morphologic features posttransplant can be concerning for persistent disease.\u0000\u0000\u0000METHODS\u0000In this retrospective study, we identified 22 patients transplanted for myeloproliferative neoplasms or chronic myelomonocytic leukemia with fibrosis at our institution, and reviewed slides from pretransplant and posttransplant bone marrow biopsies. Clinical features and results of molecular, chimerism, and cytogenetic studies were retrieved from the medical record.\u0000\u0000\u0000RESULTS\u0000Pretransplant bone marrow biopsies commonly exhibited hypercellularity, atypical megakaryocytes, and reticulin fibrosis. At day 100, 36% of biopsies had reticulin grade >MF1 and 33% of those tested had positive molecular studies, with no significant associations between day 100 marrow characteristics and molecular profile or peripheral count recovery times. In the 1 year posttransplant biopsies (n = 12), 7 of 9 had negative molecular studies; of these, none had reticulin grade >MF1, 1 had trichrome 1+, 2 had atypical megakaryocytes, and 1 was hypercellular.\u0000\u0000\u0000CONCLUSIONS\u0000Supporting recent literature, our study indicates that persistent day 100 reticulin fibrosis/collagen deposition does not show an association with day 100 molecular status. Our study additionally provides data for 12 patients with 1 year posttransplant marrow biopsies, with the majority of those lacking either increased fibrosis or molecular evidence of persistent disease.","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":"95 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140713678","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}