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  • 1
    Online Resource
    Online Resource
    Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples
    Walter de Gruyter GmbH ; 2017
    In:  Clinical Chemistry and Laboratory Medicine (CCLM) Vol. 55, No. 9 ( 2017-01-1)
    Details
    In: Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 55, No. 9 ( 2017-01-1)
    Abstract: α Methods: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method. In addition, 19 patients were characterized by quantification, phenotyping and genotyping using only serum samples. Results: The 16 buccal swab samples were correctly characterized by genotyping. Definitive results were obtained in the 19 serum samples analyzed by quantification, phenotyping and genotyping, thereby performing the complete AATD diagnostic algorithm. Conclusions: Buccal swab samples may be useful to expand AATD screening programs and family studies. Genotyping using DNA from serum samples permits the application of the complete diagnostic algorithm without delay. These two methods will be useful for obtaining more in depth knowledge of the real prevalence of patients with AATD.
    Type of Medium: Online Resource
    ISSN: 1437-4331 , 1434-6621
    URL: Article
    DOI: 10.1515/cclm-2016-0842
    Language: Unknown
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2017
    detail.hit.zdb_id: 1492732-9
    SSG: 15,3
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  • 2
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    Online Resource
    Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples
    Walter de Gruyter GmbH ; 2016
    In:  Clinical Chemistry and Laboratory Medicine (CCLM) Vol. 54, No. 2 ( 2016-01-1)
    Details
    In: Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 54, No. 2 ( 2016-01-1)
    Abstract: α We tested the applicability of this new technique for the identification of the Mmalton allele in AATD screening using whole blood, dried blood spot (DBS) and serum samples. Mmalton heterozygote and homozygote samples and samples without this allele were included in the study. This new assay is able to detect homozygous and heterozygous genotypes in the same reaction and in a single step, giving matching results with those obtained by This technology is optimal for working with small amounts of DNA, such as in DBS and even with residual DNA present in serum samples, allowing improvement in routine algorithms of AATD diagnosis or large-scale screening. This method will be useful for obtaining more in depth knowledge of the real incidence of the Mmalton variant.
    Type of Medium: Online Resource
    ISSN: 1437-4331 , 1434-6621
    URL: Article
    DOI: 10.1515/cclm-2015-0297
    Language: Unknown
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2016
    detail.hit.zdb_id: 1492732-9
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  • 3
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    Harmonization of indirect reference intervals calculation by the Bhattacharya method
    Walter de Gruyter GmbH ; 2023
    In:  Clinical Chemistry and Laboratory Medicine (CCLM) Vol. 61, No. 2 ( 2023-01-27), p. 266-274
    Details
    In: Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 61, No. 2 ( 2023-01-27), p. 266-274
    Abstract: The aim of this study was to harmonize the criteria for the Bhattacharya indirect method Microsoft Excel Spreadsheet for reference intervals calculation to reduce between-user variability and use these criteria to calculate and evaluate reference intervals for eight analytes in two different years. Methods Anonymized laboratory test results from outpatients were extracted from January 1st 2018 to December 31st 2019. To assure data quality, we examined the monthly results from an external quality control program. Reference intervals were determined by the Bhattacharya method with the St Vincent’s hospital Spreadsheet firstly using original criteria and then using additional harmonized criteria defined in this study. Consensus reference intervals using the additional harmonized criteria were calculated as the mean of four users’ lower and upper reference interval results. To further test the operation criteria and robustness of the obtained reference intervals, an external user validated the Spreadsheet procedure. Results The extracted test results for all selected laboratory tests fulfilled the quality criteria and were included in the present study. Differences between users in calculated reference intervals were frequent when using the Spreadsheet. Therefore, additional criteria for the Spreadsheet were proposed and applied by independent users, such as: to set central bin as the mean of all the data, bin size as small as possible, at least three consecutive bins and a high proportion of bins within the curve. Conclusions The proposed criteria contributed to the harmonization of reference interval calculation between users of the Bhattacharya indirect method Spreadsheet.
    Type of Medium: Online Resource
    ISSN: 1434-6621 , 1437-4331
    URL: Article
    DOI: 10.1515/cclm-2022-0439
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2023
    detail.hit.zdb_id: 1492732-9
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  • 4
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    Online Resource
    Método rápido y preciso para la cuantificación de busulfán en muestras de plasma mediante cromatografía líquida acoplada a espectrometría de masas en tándem (LC-MS/MS)
    Walter de Gruyter GmbH ; 2022
    In:  Advances in Laboratory Medicine / Avances en Medicina de Laboratorio Vol. 3, No. 3 ( 2022-10-14), p. 272-281
    Details
    In: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Walter de Gruyter GmbH, Vol. 3, No. 3 ( 2022-10-14), p. 272-281
    Abstract: La administración de busulfán es ampliamente utilizada como parte del régimen de acondicionamiento en pacientes que se van a someter a trasplante de células madre hematopoyéticas. Se recomienda monitorizar las concentraciones plasmáticas de busulfán con el fin de optimizar la dosis en cada paciente y minimizar su toxicidad. El objetivo del presente estudio es validar un método analítico sencillo, rápido y costo-efectivo para la cuantificación de busulfán en plasma por cromatografía líquida acoplada a espectrometría de masas en tándem de aplicabilidad en la práctica clínica. Métodos Las muestras de plasma se prepararon aplicando un protocolo de un solo paso de precipitación de proteínas. A continuación, las muestras se analizaron mediante elución isocrática en una columna C18. La fase móvil está constituida por 2 mM de acetato de amonio y ácido fórmico al 0,1% disuelto a una proporción 30:70 de metanol/agua. Como patrón interno, se utilizó busulfán-D 8 . Resultados El tiempo total de medición se optimizó en 1,6 minutos. Las curvas de calibración fueron lineales entre 0,03 y 5 mg/L. El CV fue inferior al 8%. La exactitud de este método mostró un intervalo aceptable de entre 85 y 115%. No se observó interferencia por hemoglobina, lipemia o bilirrubina, ni siquiera a elevadas concentraciones de interferente. No se observó contaminación por arrastre ni efecto matriz al emplear este método. Se analizó el área bajo la curva de 15 pacientes pediátricos que recibieron tratamiento con busulfán previamente a un trasplante de células madre hematopoyéticas, y se estudió la correlación con las dosis administradas. Conclusiones El método fue validado exitosamente y demostró ser suficientemente sólido para la monitorización farmacoterapéutica en un contexto clínico.
    Type of Medium: Online Resource
    ISSN: 2628-491X
    URL: Article
    DOI: 10.1515/almed-2022-0073
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2022
    detail.hit.zdb_id: 2967900-X
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  • 5
    Online Resource
    Online Resource
    Estudio descriptivo y validación de un modelo predictivo de severidad en pacientes con infección por SARS-CoV-2
    Walter de Gruyter GmbH ; 2021
    In:  Advances in Laboratory Medicine / Avances en Medicina de Laboratorio Vol. 2, No. 3 ( 2021-08-04), p. 399-408
    Details
    In: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Walter de Gruyter GmbH, Vol. 2, No. 3 ( 2021-08-04), p. 399-408
    Abstract: Durante la pandemia causada por el virus SARS-CoV-2 ha surgido la necesidad de identificar variables predictivas que permitan una rápida identificación de aquellos pacientes que desarrollarán la COVID-19 severa para una rápida intervención. Este estudio ha desarrollado y validado un modelo capaz de realizar un pronóstico de severidad de la COVID-19. Métodos A partir de datos analíticos, demográficos y comorbilidades de pacientes visitados en el Servicio de Urgencias con sintomatología compatible de COVID-19, se ha realizado un estudio descriptivo y comparativo de pacientes con PCR-RT positiva y negativa para SARS-CoV-2 y de pacientes con enfermedad COVID-19 moderada y severa. La cohorte COVID-19 positiva ha servido para el desarrollo de un modelo de regresión logística. Resultados Se han incluido 410 pacientes COVID positivo (303 con enfermedad moderada y 107 con enfermedad severa) y 81 COVID negativo. Las variables predictivas del modelo son: lactato deshidrogenasa, proteína C reactiva, proteínas totales, urea y plaquetas. La calibración interna mostró un área bajo la curva ROC (AUC) de 0,88 (IC95%: 0,85–0,92), con un porcentaje de clasificaciones correctas del 85,2% a un valor de corte de 0,5. La validación externa (100 pacientes) obtuvo un AUC de 0,79 (IC95%: 0,71–0,89), con un 73% de clasificaciones correctas. Conclusiones El modelo predictivo desarrollado permite seleccionar desde el Servicio de Urgencias, con una única extracción de sangre y con magnitudes habituales en un Laboratorio Clínico, aquellos pacientes que con mayor probabilidad desarrollarán COVID-19 severa, proporcionando una importante herramienta para la planificación y la toma de decisiones clínicas.
    Type of Medium: Online Resource
    ISSN: 2628-491X
    URL: Article
    DOI: 10.1515/almed-2021-0006
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2021
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  • 6
    Online Resource
    Online Resource
    Rapid and accurate method for quantifying busulfan in plasma samples by isocratic liquid chromatography-tandem mass spectrometry (LC-MS/MS)
    Walter de Gruyter GmbH ; 2022
    In:  Advances in Laboratory Medicine / Avances en Medicina de Laboratorio Vol. 3, No. 3 ( 2022-10-14), p. 263-271
    Details
    In: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Walter de Gruyter GmbH, Vol. 3, No. 3 ( 2022-10-14), p. 263-271
    Abstract: Administration of busulfan is extending rapidly as a part of a conditioning regimen in patients undergoing hematopoietic stem cell transplantation (HSCT). Monitoring blood plasma levels of busulfan is recommended for identifying the optimal dose in patients and for minimizing toxicity. The aim of this research was to validate a simple, rapid, and cost-effective analytical tool for measuring busulfan in human plasma that would be suitable for routine clinical use. This novel tool was based on liquid chromatography coupled to mass spectrometry. Methods Human plasma samples were prepared using a one-step protein precipitation protocol. These samples were then resolved by isocratic elution in a C18 column. The mobile phase consisted 2 mM ammonium acetate and 0.1% formic acid dissolved in a 30:70 ratio of methanol/water. Busulfan-d 8 was used as the internal standard. Results The run time was optimized at 1.6 min. Standard curves were linear from 0.03 to 5 mg/L. The coefficient of variation (%CV) was less than 8%. The accuracy of this method had an acceptable bias that fell within 85–115% range. No interference between busulfan and the interfering compound hemoglobin, lipemia, or bilirubin not even at the highest concentrations of compound was tested. Neither carryover nor matrix effects were observed using this method. The area under the plasma drug concentration-time curves obtained for 15 pediatric patients who received busulfan therapy prior to HSCT were analyzed and correlated properly with the administered doses. Conclusions This method was successfully validated and was found to be robust enough for therapeutic drug monitoring in a clinical setting.
    Type of Medium: Online Resource
    ISSN: 2628-491X
    URL: Article
    DOI: 10.1515/almed-2022-0016
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2022
    detail.hit.zdb_id: 2967900-X
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  • 7
    Online Resource
    Online Resource
    A descriptive and validation study of a predictive model of severity of SARS-COV-2 infection
    Walter de Gruyter GmbH ; 2021
    In:  Advances in Laboratory Medicine / Avances en Medicina de Laboratorio Vol. 2, No. 3 ( 2021-08-04), p. 390-398
    Details
    In: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Walter de Gruyter GmbH, Vol. 2, No. 3 ( 2021-08-04), p. 390-398
    Abstract: The strain the SARS-COV-2 pandemic is putting on hospitals requires that predictive values are identified for a rapid triage and management of patients at a higher risk of developing severe COVID-19. We developed and validated a prognostic model of COVID-19 severity. Methods A descriptive, comparative study of patients with positive vs. negative PCR-RT for SARS-COV-2 and of patients who developed moderate vs. severe COVID-19 was conducted. The model was built based on analytical and demographic data and comorbidities of patients seen in an Emergency Department with symptoms consistent with COVID-19. A logistic regression model was designed from data of the COVID-19-positive cohort. Results The sample was composed of 410 COVID-positive patients (303 with moderate disease and 107 with severe disease) and 81 COVID-negative patients. The predictive variables identified included lactate dehydrogenase, C-reactive protein, total proteins, urea, and platelets. Internal calibration showed an area under the ROC curve (AUC) of 0.88 (CI 95%: 0.85–0.92), with a rate of correct classifications of 85.2% for a cut-off value of 0.5. External validation (100 patients) yielded an AUC of 0.79 (95% CI: 0.71–0.89), with a rate of correct classifications of 73%. Conclusions The predictive model identifies patients at a higher risk of developing severe COVID-19 at Emergency Department, with a first blood test and common parameters used in a clinical laboratory. This model may be a valuable tool for clinical planning and decision-making.
    Type of Medium: Online Resource
    ISSN: 2628-491X
    URL: Article
    DOI: 10.1515/almed-2021-0039
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2021
    detail.hit.zdb_id: 2967900-X
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