Andrea Mosca, R. Paleari, Giovanni Palazzi, Alessia Pancaldi, Lorenzo Iughetti, Donatella Venturelli, Roberta Rolla, Enza Pavanello, Ferruccio Ceriotti, Massimiliano Ammirabile, Stefano Capri, Antonio Piga, Giovanni Ivaldi
Abstract Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is at most universal and mandatory. The essential laboratory issues are reviewed, from sampling aspects (cord blood or peripheral), to the analytical (analytical methods dedicated to neonatal screening and adult carrier detection) and post analytical (reporting, informative) ones. An economic analysis based on data collected in the province of Modena is also proposed, clearly showing that neonatal screening is also beneficial from an economic point of view.
{"title":"Screening for sickle cell disease: focus on newborn investigations","authors":"Andrea Mosca, R. Paleari, Giovanni Palazzi, Alessia Pancaldi, Lorenzo Iughetti, Donatella Venturelli, Roberta Rolla, Enza Pavanello, Ferruccio Ceriotti, Massimiliano Ammirabile, Stefano Capri, Antonio Piga, Giovanni Ivaldi","doi":"10.1515/cclm-2024-0478","DOIUrl":"https://doi.org/10.1515/cclm-2024-0478","url":null,"abstract":"Abstract Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is at most universal and mandatory. The essential laboratory issues are reviewed, from sampling aspects (cord blood or peripheral), to the analytical (analytical methods dedicated to neonatal screening and adult carrier detection) and post analytical (reporting, informative) ones. An economic analysis based on data collected in the province of Modena is also proposed, clearly showing that neonatal screening is also beneficial from an economic point of view.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141334754","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}
Abstract Objectives Lymphocyte subsets are the predictors of disease diagnosis, treatment, and prognosis. Determination of lymphocyte subsets is usually carried out by flow cytometry. Despite recent advances in flow cytometry analysis, most flow cytometry data can be challenging with manual gating, which is labor-intensive, time-consuming, and error-prone. This study aimed to develop an automated method to identify lymphocyte subsets. Methods We propose a knowledge-driven combined with data-driven method which can gate automatically to achieve subset identification. To improve accuracy and stability, we have implemented a Loop Adjustment Gating to optimize the gating result of the lymphocyte population. Furthermore, we have incorporated an anomaly detection mechanism to issue warnings for samples that might not have been successfully analyzed, ensuring the quality of the results. Results The evaluation showed a 99.2 % correlation between our method results and manual analysis with a dataset of 2,000 individual cases from lymphocyte subset assays. Our proposed method attained 97.7 % accuracy for all cases and 100 % for the high-confidence cases. With our automated method, 99.1 % of manual labor can be saved when reviewing only the low-confidence cases, while the average turnaround time required is only 29 s, reducing by 83.7 %. Conclusions Our proposed method can achieve high accuracy in flow cytometry data from lymphocyte subset assays. Additionally, it can save manual labor and reduce the turnaround time, making it have the potential for application in the laboratory.
{"title":"An automatic analysis and quality assurance method for lymphocyte subset identification","authors":"MinYang Zhang, YaLi Zhang, JingWen Zhang, JiaLi Zhang, SiYuan Gao, ZeChao Li, KangPei Tao, XiaoDan Liang, JianHua Pan, Min Zhu","doi":"10.1515/cclm-2023-1141","DOIUrl":"https://doi.org/10.1515/cclm-2023-1141","url":null,"abstract":"Abstract Objectives Lymphocyte subsets are the predictors of disease diagnosis, treatment, and prognosis. Determination of lymphocyte subsets is usually carried out by flow cytometry. Despite recent advances in flow cytometry analysis, most flow cytometry data can be challenging with manual gating, which is labor-intensive, time-consuming, and error-prone. This study aimed to develop an automated method to identify lymphocyte subsets. Methods We propose a knowledge-driven combined with data-driven method which can gate automatically to achieve subset identification. To improve accuracy and stability, we have implemented a Loop Adjustment Gating to optimize the gating result of the lymphocyte population. Furthermore, we have incorporated an anomaly detection mechanism to issue warnings for samples that might not have been successfully analyzed, ensuring the quality of the results. Results The evaluation showed a 99.2 % correlation between our method results and manual analysis with a dataset of 2,000 individual cases from lymphocyte subset assays. Our proposed method attained 97.7 % accuracy for all cases and 100 % for the high-confidence cases. With our automated method, 99.1 % of manual labor can be saved when reviewing only the low-confidence cases, while the average turnaround time required is only 29 s, reducing by 83.7 %. Conclusions Our proposed method can achieve high accuracy in flow cytometry data from lymphocyte subset assays. Additionally, it can save manual labor and reduce the turnaround time, making it have the potential for application in the laboratory.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139437439","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}
Marth Briers, Bo Massa, Bert Vander Cruyssen, S. Van den Bremt, Laura Hofman, Leen Van Langenhove, Bernhard Hoermann, Xavier Bossuyt, L. Van Hoovels
{"title":"Discriminating signal from noise: the biological variation of circulating calprotectin in serum and plasma","authors":"Marth Briers, Bo Massa, Bert Vander Cruyssen, S. Van den Bremt, Laura Hofman, Leen Van Langenhove, Bernhard Hoermann, Xavier Bossuyt, L. Van Hoovels","doi":"10.1515/cclm-2023-1126","DOIUrl":"https://doi.org/10.1515/cclm-2023-1126","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138633194","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}
Pub Date : 2023-04-11DOI: 10.1007/978-3-319-13069-9_34
D. Harrison
{"title":"Traumatic brain injury","authors":"D. Harrison","doi":"10.1007/978-3-319-13069-9_34","DOIUrl":"https://doi.org/10.1007/978-3-319-13069-9_34","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81227332","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":"43rd annual conference of the association of clinical biochemists in Ireland (ACBI 2021)","authors":"","doi":"10.1515/cclm-2023-0192","DOIUrl":"https://doi.org/10.1515/cclm-2023-0192","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86471591","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}
The proceedings contain 16 papers. The topics discussed include: false identification of icterus by eye in a complex patient with severe neutropenic sepsis;an unusual cause of Hypertriglyceridemia in an Infant;a confectionary cause of biochemical mimic for fructose-1,6-bisphosphatase (FBP1) deficiency;forward thinking for reverse PseudoHyperKalaemia;an unexpected follow-up of increased leucine on newborn blood spot screening;'that's gas!' - evaluation of the Abbott Alinity carbon dioxide assay;calcium verification with a difference?;changes in diagnosis of gestational diabetes mellitus during the Covid-19 pandemic at a large maternity hospital in Southwest Ireland;NT-proBNP in primary care. What's the indication and can it be interpreted? and elevated serum neurofilament light chain (NfL) as a potential biomarker in neuropsychiatric disorders.
{"title":"44th Annual Conference of the Association of Clinical Biochemists in Ireland (ACBI 2022)","authors":"Anonymous","doi":"10.1515/cclm-2023-0193","DOIUrl":"https://doi.org/10.1515/cclm-2023-0193","url":null,"abstract":"The proceedings contain 16 papers. The topics discussed include: false identification of icterus by eye in a complex patient with severe neutropenic sepsis;an unusual cause of Hypertriglyceridemia in an Infant;a confectionary cause of biochemical mimic for fructose-1,6-bisphosphatase (FBP1) deficiency;forward thinking for reverse PseudoHyperKalaemia;an unexpected follow-up of increased leucine on newborn blood spot screening;'that's gas!' - evaluation of the Abbott Alinity carbon dioxide assay;calcium verification with a difference?;changes in diagnosis of gestational diabetes mellitus during the Covid-19 pandemic at a large maternity hospital in Southwest Ireland;NT-proBNP in primary care. What's the indication and can it be interpreted? and elevated serum neurofilament light chain (NfL) as a potential biomarker in neuropsychiatric disorders.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87376455","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}
B. Decru, J. Van Elslande, S. Steels, G. Van Pottelbergh, L. Godderis, X. Bossuyt, B. Van Holm, J. Van Weyenbergh, P. Maes, P. Vermeersch
{"title":"Annual meeting of the Royal Belgian Society of Laboratory Medicine: “Men’s health”","authors":"B. Decru, J. Van Elslande, S. Steels, G. Van Pottelbergh, L. Godderis, X. Bossuyt, B. Van Holm, J. Van Weyenbergh, P. Maes, P. Vermeersch","doi":"10.1515/cclm-2022-1224","DOIUrl":"https://doi.org/10.1515/cclm-2022-1224","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89339236","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}
Pub Date : 2022-07-05DOI: 10.1101/2022.07.01.22276646
Anelia Kuvbachieva-Benarrosh, C. Nefzaoui, I. Quadrio, Charles-Henry Rémignon, E. Jullian, A. Perret‐Liaudet
Robust intraocular markers are needed in clinical practice for several inflammatory ophthalmological conditions in addition to advanced imaging, histology and immunohistochemistry tests in order to assure reliable diagnosis. Neopterin (NPt) is produced by activated lymphocyte T cells and is known to increase within the CNS in proinflammatory or early infectious states. This study aimed to measure intraocular NPt in aqueous liquid following intraocular liquid biopsy using standard methods. We enrolled 20 healthy patients without known inflammatory history or medication underdoing cataract surgery and analyzed samples for 19 out of 20. NPt level was measured below 1,9 nmol/l in 16 patients (84 %) and less than 3 nmol/l in 94,74%. Given the first time that NPt is measured in intraocular liquids we compared with the established reference limits within the CSF. These findings suggest that NPt could serve as a potential additional signature in ophthalmological conditions to differentiate between any or proinflammatory intraocular state, as well in follow-up.
{"title":"Neopterin level can be measured by intraocular liquid biopsy","authors":"Anelia Kuvbachieva-Benarrosh, C. Nefzaoui, I. Quadrio, Charles-Henry Rémignon, E. Jullian, A. Perret‐Liaudet","doi":"10.1101/2022.07.01.22276646","DOIUrl":"https://doi.org/10.1101/2022.07.01.22276646","url":null,"abstract":"Robust intraocular markers are needed in clinical practice for several inflammatory ophthalmological conditions in addition to advanced imaging, histology and immunohistochemistry tests in order to assure reliable diagnosis. Neopterin (NPt) is produced by activated lymphocyte T cells and is known to increase within the CNS in proinflammatory or early infectious states. This study aimed to measure intraocular NPt in aqueous liquid following intraocular liquid biopsy using standard methods. We enrolled 20 healthy patients without known inflammatory history or medication underdoing cataract surgery and analyzed samples for 19 out of 20. NPt level was measured below 1,9 nmol/l in 16 patients (84 %) and less than 3 nmol/l in 94,74%. Given the first time that NPt is measured in intraocular liquids we compared with the established reference limits within the CSF. These findings suggest that NPt could serve as a potential additional signature in ophthalmological conditions to differentiate between any or proinflammatory intraocular state, as well in follow-up.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78986429","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}
Pub Date : 2022-06-20DOI: 10.1515/cclm-2022-frontmatter8
{"title":"Frontmatter","authors":"","doi":"10.1515/cclm-2022-frontmatter8","DOIUrl":"https://doi.org/10.1515/cclm-2022-frontmatter8","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87888995","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}
Abstract Objectives Macroprolactin cross-reacts in immunoassays for prolactin causing apparent hyperprolactinaemia (macroprolactinaemia) and consequent misdiagnosis and mismanagement of patients. Methods We determined the prevalence of macroprolactinaemia using prolactin immunoassays with reported “high” (Tosoh) or “low” cross-reactivity (Roche) with macroprolactin. We additionally modelled the effects of increasing the screening threshold on workload and sensitivity in the detection of macroprolactinaemia. Results A review of routine requests for prolactin received in a 12 month period identified 670 sera with hyperprolactinaemia (Tosoh assay). Treatment with polyethylene glycol (PEG) precipitation demonstrated normal levels of monomeric prolactin in 165 sera (24.6%) indicating macroprolactinaemia. In the macroprolactinaemic cohort, total prolactin levels were lower with the Roche assay (473 ± 132 mU/L; mean ± SD) compared to the Tosoh assay (683 ± 217 mU/L), p < 0.005. The prevalence of macroprolactinaemia was also lower with the Roche assay (6.2%). The number of samples that required screening for macroprolactinaemia fell by 14% when Roche gender specific total prolactin reference limits were applied. Use of a higher screening threshold (700 mU/L) reduced the screening workload considerably (Roche by 45%, Tosoh by 37%) however, the sensitivity of detection of macroprolactinaemia decreased markedly (Roche 90%, Tosoh 59%). Conclusions Macroprolactin interferes in both Tosoh and Roche prolactin immunoassays. Use of an assay with a relatively low cross reactivity with macroprolactin, e.g. Roche, will lead to a modest reduction in the screening workload. Increasing the screening threshold above the upper limit of the assay reference interval will also reduce the screening workload but leads to disproportionate increases in the number of cases of macroprolactinaemia which are missed.
{"title":"Cross-reactivity in assays for prolactin and optimum screening policy for macroprolactinaemia","authors":"T. Smith, S. Kelly, M. Fahie-Wilson","doi":"10.1515/cclm-2022-0459","DOIUrl":"https://doi.org/10.1515/cclm-2022-0459","url":null,"abstract":"Abstract Objectives Macroprolactin cross-reacts in immunoassays for prolactin causing apparent hyperprolactinaemia (macroprolactinaemia) and consequent misdiagnosis and mismanagement of patients. Methods We determined the prevalence of macroprolactinaemia using prolactin immunoassays with reported “high” (Tosoh) or “low” cross-reactivity (Roche) with macroprolactin. We additionally modelled the effects of increasing the screening threshold on workload and sensitivity in the detection of macroprolactinaemia. Results A review of routine requests for prolactin received in a 12 month period identified 670 sera with hyperprolactinaemia (Tosoh assay). Treatment with polyethylene glycol (PEG) precipitation demonstrated normal levels of monomeric prolactin in 165 sera (24.6%) indicating macroprolactinaemia. In the macroprolactinaemic cohort, total prolactin levels were lower with the Roche assay (473 ± 132 mU/L; mean ± SD) compared to the Tosoh assay (683 ± 217 mU/L), p < 0.005. The prevalence of macroprolactinaemia was also lower with the Roche assay (6.2%). The number of samples that required screening for macroprolactinaemia fell by 14% when Roche gender specific total prolactin reference limits were applied. Use of a higher screening threshold (700 mU/L) reduced the screening workload considerably (Roche by 45%, Tosoh by 37%) however, the sensitivity of detection of macroprolactinaemia decreased markedly (Roche 90%, Tosoh 59%). Conclusions Macroprolactin interferes in both Tosoh and Roche prolactin immunoassays. Use of an assay with a relatively low cross reactivity with macroprolactin, e.g. Roche, will lead to a modest reduction in the screening workload. Increasing the screening threshold above the upper limit of the assay reference interval will also reduce the screening workload but leads to disproportionate increases in the number of cases of macroprolactinaemia which are missed.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87489903","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}
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