Teléfono: +34 976 765 500 ext 2156
Email: egarciag@salud.aragon.es
Dirección: c/ Padre Arrupe sn, pl 3, Hospital Universitario Miguel Servet, S° Bioquímica Clínica – Zaragoza (Spain)
SOBRE MÍ
Elena García González, Licenciada en Ciencias Químicas por la Universidad de Oviedo (1996 - 2001). Facultativo Especialista de Área, especialidad Bioquímica Clínica desde el 2005. Miembro del grupo M.A.R.T.E. desde 2014.
PUBLICACIONES
2020
Gazulla, José; Orduna-Hospital, Elvira; Benavente, Isabel; Rodríguez-Valle, Ana; Osorio-Caicedo, Pedro; Andrés, Sara Alvarez-de; García-González, Elena; Fraile-Rodrigo, Jesús; Fernández-Tirado, Francisco Javier; Berciano, José
Contributions to the study of spinocerebellar ataxia type 38 (SCA38) Artículo de revista
En: J Neurol, vol. 267, no 8, pp. 2288–2295, 2020, ISSN: 1432-1459.
@article{pmid32314013,
title = {Contributions to the study of spinocerebellar ataxia type 38 (SCA38)},
author = {José Gazulla and Elvira Orduna-Hospital and Isabel Benavente and Ana Rodríguez-Valle and Pedro Osorio-Caicedo and Sara Alvarez-de Andrés and Elena García-González and Jesús Fraile-Rodrigo and Francisco Javier Fernández-Tirado and José Berciano},
doi = {10.1007/s00415-020-09840-1},
issn = {1432-1459},
year = {2020},
date = {2020-08-01},
journal = {J Neurol},
volume = {267},
number = {8},
pages = {2288--2295},
abstract = {OBJECTIVE: To report clinical and ancillary findings in a kindred with spinocerebellar ataxia 38 (SCA38).
PATIENTS AND METHODS: Five family members spanning two generations developed gait ataxia and intermittent diplopia. On examination, a cerebellar syndrome accompanied by downbeat nystagmus and a saccadic head impulse test (HIT) were found.
RESULTS: Whole-exome sequencing demonstrated a heterozygous variant in ELOVL5, c.779A > G (p.Tyr260Cys), in four tested patients. Intermittent concomitant esotropia and hypertropia caused transient diplopia in one individual each. Saccadic HIT responses were found in four subjects. Sensorineural hypoacusis was present in every case. Electrophysiological studies demonstrated a sensory neuronopathy in patients from the first generation, with prolonged disease duration. Baseline serum docosahexaenoic acid (DHA) percent was diminished in four individuals. Oral 26-week dietary DHA supplementation, 650 mg/day, raised serum DHA percent and induced a statistically significant reduction in Scale for the Assessment and Rating of Ataxia (SARA) total scores, and in stance and heel-shin slide item scores.
CONCLUSION: The mentioned ELOVL5 variant segregated with disease in this kindred. Downbeat nystagmus, intermittent heterotropia causing transient diplopia, vestibular impairment demonstrated by abnormal HIT, and sensory neuronopathy were part of the clinical picture in this series. DHA supplementation raised serum DHA percent in cases with diminished levels, and induced a clinical amelioration and a statistically significant reduction in SARA scores in the study group. Further studies are needed to investigate the role of these findings in SCA38, and to determine the response to prolonged DHA supplementation.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
OBJECTIVE: To report clinical and ancillary findings in a kindred with spinocerebellar ataxia 38 (SCA38).
PATIENTS AND METHODS: Five family members spanning two generations developed gait ataxia and intermittent diplopia. On examination, a cerebellar syndrome accompanied by downbeat nystagmus and a saccadic head impulse test (HIT) were found.
RESULTS: Whole-exome sequencing demonstrated a heterozygous variant in ELOVL5, c.779A > G (p.Tyr260Cys), in four tested patients. Intermittent concomitant esotropia and hypertropia caused transient diplopia in one individual each. Saccadic HIT responses were found in four subjects. Sensorineural hypoacusis was present in every case. Electrophysiological studies demonstrated a sensory neuronopathy in patients from the first generation, with prolonged disease duration. Baseline serum docosahexaenoic acid (DHA) percent was diminished in four individuals. Oral 26-week dietary DHA supplementation, 650 mg/day, raised serum DHA percent and induced a statistically significant reduction in Scale for the Assessment and Rating of Ataxia (SARA) total scores, and in stance and heel-shin slide item scores.
CONCLUSION: The mentioned ELOVL5 variant segregated with disease in this kindred. Downbeat nystagmus, intermittent heterotropia causing transient diplopia, vestibular impairment demonstrated by abnormal HIT, and sensory neuronopathy were part of the clinical picture in this series. DHA supplementation raised serum DHA percent in cases with diminished levels, and induced a clinical amelioration and a statistically significant reduction in SARA scores in the study group. Further studies are needed to investigate the role of these findings in SCA38, and to determine the response to prolonged DHA supplementation.
PATIENTS AND METHODS: Five family members spanning two generations developed gait ataxia and intermittent diplopia. On examination, a cerebellar syndrome accompanied by downbeat nystagmus and a saccadic head impulse test (HIT) were found.
RESULTS: Whole-exome sequencing demonstrated a heterozygous variant in ELOVL5, c.779A > G (p.Tyr260Cys), in four tested patients. Intermittent concomitant esotropia and hypertropia caused transient diplopia in one individual each. Saccadic HIT responses were found in four subjects. Sensorineural hypoacusis was present in every case. Electrophysiological studies demonstrated a sensory neuronopathy in patients from the first generation, with prolonged disease duration. Baseline serum docosahexaenoic acid (DHA) percent was diminished in four individuals. Oral 26-week dietary DHA supplementation, 650 mg/day, raised serum DHA percent and induced a statistically significant reduction in Scale for the Assessment and Rating of Ataxia (SARA) total scores, and in stance and heel-shin slide item scores.
CONCLUSION: The mentioned ELOVL5 variant segregated with disease in this kindred. Downbeat nystagmus, intermittent heterotropia causing transient diplopia, vestibular impairment demonstrated by abnormal HIT, and sensory neuronopathy were part of the clinical picture in this series. DHA supplementation raised serum DHA percent in cases with diminished levels, and induced a clinical amelioration and a statistically significant reduction in SARA scores in the study group. Further studies are needed to investigate the role of these findings in SCA38, and to determine the response to prolonged DHA supplementation.
2019
Ballano, D. Álvarez; Nivela, M. O. Bandrés; Ruiz, M. L. Gracia; González, A. Ilundain; García, P. Diego; Lamarca, Y. Blasco; Martínez, A. B. Mañas; García-González, E.; Varas, L. Rello; Serrano, M. A. Sancho; Lanzarote, J. J. Puente
En: Clínica e Investigación en Ginecología y Obstetricia, vol. 46, no 1, pp. 21-27, 2019, ISSN: 0210-573X.
@article{ALVAREZBALLANO201921,
title = {Intervalos de referencia de hormonas tiroideas en mujeres gestantes mediante 2 inmunoanálisis diferentes: la importancia del método por encima de valores únicos universales, en consonancia con las recomendaciones internacionales 2017},
author = {D. Álvarez Ballano and M. O. Bandrés Nivela and M. L. Gracia Ruiz and A. Ilundain González and P. Diego García and Y. Blasco Lamarca and A. B. Mañas Martínez and E. García-González and L. Rello Varas and M. A. Sancho Serrano and J. J. Puente Lanzarote},
url = {https://www.sciencedirect.com/science/article/pii/S0210573X17300588},
doi = {https://doi.org/10.1016/j.gine.2017.09.001},
issn = {0210-573X},
year = {2019},
date = {2019-01-01},
journal = {Clínica e Investigación en Ginecología y Obstetricia},
volume = {46},
number = {1},
pages = {21-27},
abstract = {Resumen
Antecedentes y objetivos
La disfunción tiroidea durante la gestación repercute sobre la salud materno-fetal y puede influir en el desarrollo neurocognitivo del niño. La fisiología tiroidea cambia en el embarazo y obliga a establecer valores de referencia (VR) para cada población y método. Los objetivos fueron determinar dichos VR de hormonas tiroideas (HT) empleando 2 inmunoanálisis, estimar el estado nutricional de yodo y la prevalencia de autoinmunidad tiroidea en nuestra población.
Pacientes y métodos
Se seleccionó a 378 gestantes de los sectores sanitarios de Zaragoza y Huesca, con determinación de yoduria, anticuerpos antitiroideos y HT mediante 2 inmunoanálisis diferentes (Beckman y Siemens).
Resultados
Yoduria media 187μg/L, mediana 146μg/L. El 78% tomaba suplemento (yoduro potásico) y su consumo se relacionó con mayores niveles de yoduria. El 10,8% tenían anticuerpos antiperoxidasa positivos, el 4,4% antitiroglobulina, el 2,4% ambos y el 4,1% anti-TSHr. No hubo asociación entre yoduria y TSH ni T4L. Los VR de TSH en el primer trimestre fueron Beckman 0,2-4 y Siemens 0,2-3,4 mUI/L.
Conclusión
Los VR de HT fueron claramente diferentes a los propuestos por la ATA 2011 pero prácticamente iguales a los descritos en población española utilizando los mismos inmunoanálisis, como propone la ATA 2017. La autoinmunidad tiroidea fue similar a la publicada a nivel nacional e internacional. La media y la mediana de yodurias son de las más elevadas publicadas en España hasta el momento y dependen principalmente de la toma de yoduro potásico para alcanzar los objetivos de la OMS, lo que avala las recomendaciones de suplementación con al menos 150μg de yodo.
Background and objectives
Thyroid dysfunction during pregnancy affects maternal and foetal health, which may influence the child's neurocognitive development. The thyroid physiology changes during pregnancy, requiring reference values (RV) to be established for each population and method. The objectives were to determine these thyroid hormone (TH) RV using 2 immunoassays and to estimate the nutritional status of iodine and the prevalence of thyroid autoimmunity in our population.
Patients and methods
A total of 378 pregnant women from the health sectors of Zaragoza and Huesca, whose urinary iodine, antithyroid antibody and TH levels were assessed by 2different immunoassays (Beckman and Siemens), were enrolled.
Results
The mean urinary iodine concentration was 187μg/l, with a median concentration of 146μg/l. From them, 78% took potassium iodide supplements and their consumption was related to higher levels of urinary iodine; 10.8% were positive for antithyroid peroxidase antibodies, 4.4% for anti-thyroglobulin antibodies, 2.4% for both and 4.1% for anti-TSHr. There was no association between urinary iodine and TSH or T4L. The reference values of TSH in the first trimester were Beckman: 0.2-4 and Siemens 0.2-3.4 mIU/l.
Conclusion
The thyroid hormone reference values were markedly different from those proposed by the ATA-2011 guidelines but practically identical to those described in the Spanish population using the same immunoassays, as proposed by the ATA-2017 guidelines. Thyroid autoimmunity was similar to that published nationally and internationally. The mean and median urinary iodine levels are among the highest published in Spain to date and depend mainly on supplementation with potassium iodide to reach the WHO objectives, supporting the recommendations for supplementation with at least 150μg of iodine.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Resumen
Antecedentes y objetivos
La disfunción tiroidea durante la gestación repercute sobre la salud materno-fetal y puede influir en el desarrollo neurocognitivo del niño. La fisiología tiroidea cambia en el embarazo y obliga a establecer valores de referencia (VR) para cada población y método. Los objetivos fueron determinar dichos VR de hormonas tiroideas (HT) empleando 2 inmunoanálisis, estimar el estado nutricional de yodo y la prevalencia de autoinmunidad tiroidea en nuestra población.
Pacientes y métodos
Se seleccionó a 378 gestantes de los sectores sanitarios de Zaragoza y Huesca, con determinación de yoduria, anticuerpos antitiroideos y HT mediante 2 inmunoanálisis diferentes (Beckman y Siemens).
Resultados
Yoduria media 187μg/L, mediana 146μg/L. El 78% tomaba suplemento (yoduro potásico) y su consumo se relacionó con mayores niveles de yoduria. El 10,8% tenían anticuerpos antiperoxidasa positivos, el 4,4% antitiroglobulina, el 2,4% ambos y el 4,1% anti-TSHr. No hubo asociación entre yoduria y TSH ni T4L. Los VR de TSH en el primer trimestre fueron Beckman 0,2-4 y Siemens 0,2-3,4 mUI/L.
Conclusión
Los VR de HT fueron claramente diferentes a los propuestos por la ATA 2011 pero prácticamente iguales a los descritos en población española utilizando los mismos inmunoanálisis, como propone la ATA 2017. La autoinmunidad tiroidea fue similar a la publicada a nivel nacional e internacional. La media y la mediana de yodurias son de las más elevadas publicadas en España hasta el momento y dependen principalmente de la toma de yoduro potásico para alcanzar los objetivos de la OMS, lo que avala las recomendaciones de suplementación con al menos 150μg de yodo.
Background and objectives
Thyroid dysfunction during pregnancy affects maternal and foetal health, which may influence the child’s neurocognitive development. The thyroid physiology changes during pregnancy, requiring reference values (RV) to be established for each population and method. The objectives were to determine these thyroid hormone (TH) RV using 2 immunoassays and to estimate the nutritional status of iodine and the prevalence of thyroid autoimmunity in our population.
Patients and methods
A total of 378 pregnant women from the health sectors of Zaragoza and Huesca, whose urinary iodine, antithyroid antibody and TH levels were assessed by 2different immunoassays (Beckman and Siemens), were enrolled.
Results
The mean urinary iodine concentration was 187μg/l, with a median concentration of 146μg/l. From them, 78% took potassium iodide supplements and their consumption was related to higher levels of urinary iodine; 10.8% were positive for antithyroid peroxidase antibodies, 4.4% for anti-thyroglobulin antibodies, 2.4% for both and 4.1% for anti-TSHr. There was no association between urinary iodine and TSH or T4L. The reference values of TSH in the first trimester were Beckman: 0.2-4 and Siemens 0.2-3.4 mIU/l.
Conclusion
The thyroid hormone reference values were markedly different from those proposed by the ATA-2011 guidelines but practically identical to those described in the Spanish population using the same immunoassays, as proposed by the ATA-2017 guidelines. Thyroid autoimmunity was similar to that published nationally and internationally. The mean and median urinary iodine levels are among the highest published in Spain to date and depend mainly on supplementation with potassium iodide to reach the WHO objectives, supporting the recommendations for supplementation with at least 150μg of iodine.
Antecedentes y objetivos
La disfunción tiroidea durante la gestación repercute sobre la salud materno-fetal y puede influir en el desarrollo neurocognitivo del niño. La fisiología tiroidea cambia en el embarazo y obliga a establecer valores de referencia (VR) para cada población y método. Los objetivos fueron determinar dichos VR de hormonas tiroideas (HT) empleando 2 inmunoanálisis, estimar el estado nutricional de yodo y la prevalencia de autoinmunidad tiroidea en nuestra población.
Pacientes y métodos
Se seleccionó a 378 gestantes de los sectores sanitarios de Zaragoza y Huesca, con determinación de yoduria, anticuerpos antitiroideos y HT mediante 2 inmunoanálisis diferentes (Beckman y Siemens).
Resultados
Yoduria media 187μg/L, mediana 146μg/L. El 78% tomaba suplemento (yoduro potásico) y su consumo se relacionó con mayores niveles de yoduria. El 10,8% tenían anticuerpos antiperoxidasa positivos, el 4,4% antitiroglobulina, el 2,4% ambos y el 4,1% anti-TSHr. No hubo asociación entre yoduria y TSH ni T4L. Los VR de TSH en el primer trimestre fueron Beckman 0,2-4 y Siemens 0,2-3,4 mUI/L.
Conclusión
Los VR de HT fueron claramente diferentes a los propuestos por la ATA 2011 pero prácticamente iguales a los descritos en población española utilizando los mismos inmunoanálisis, como propone la ATA 2017. La autoinmunidad tiroidea fue similar a la publicada a nivel nacional e internacional. La media y la mediana de yodurias son de las más elevadas publicadas en España hasta el momento y dependen principalmente de la toma de yoduro potásico para alcanzar los objetivos de la OMS, lo que avala las recomendaciones de suplementación con al menos 150μg de yodo.
Background and objectives
Thyroid dysfunction during pregnancy affects maternal and foetal health, which may influence the child’s neurocognitive development. The thyroid physiology changes during pregnancy, requiring reference values (RV) to be established for each population and method. The objectives were to determine these thyroid hormone (TH) RV using 2 immunoassays and to estimate the nutritional status of iodine and the prevalence of thyroid autoimmunity in our population.
Patients and methods
A total of 378 pregnant women from the health sectors of Zaragoza and Huesca, whose urinary iodine, antithyroid antibody and TH levels were assessed by 2different immunoassays (Beckman and Siemens), were enrolled.
Results
The mean urinary iodine concentration was 187μg/l, with a median concentration of 146μg/l. From them, 78% took potassium iodide supplements and their consumption was related to higher levels of urinary iodine; 10.8% were positive for antithyroid peroxidase antibodies, 4.4% for anti-thyroglobulin antibodies, 2.4% for both and 4.1% for anti-TSHr. There was no association between urinary iodine and TSH or T4L. The reference values of TSH in the first trimester were Beckman: 0.2-4 and Siemens 0.2-3.4 mIU/l.
Conclusion
The thyroid hormone reference values were markedly different from those proposed by the ATA-2011 guidelines but practically identical to those described in the Spanish population using the same immunoassays, as proposed by the ATA-2017 guidelines. Thyroid autoimmunity was similar to that published nationally and internationally. The mean and median urinary iodine levels are among the highest published in Spain to date and depend mainly on supplementation with potassium iodide to reach the WHO objectives, supporting the recommendations for supplementation with at least 150μg of iodine.
2018
Marguí, E.; Queralt, I.; García-Ruiz, E.; García-González, E.; Rello, L.; Resano, M.
Energy dispersive X-ray fluorescence spectrometry for the direct multi-element analysis of dried blood spots Artículo de revista
En: Spectrochimica Acta Part B: Atomic Spectroscopy, vol. 139, pp. 13-19, 2018, ISSN: 0584-8547.
@article{MARGUI201813,
title = {Energy dispersive X-ray fluorescence spectrometry for the direct multi-element analysis of dried blood spots},
author = {E. Marguí and I. Queralt and E. García-Ruiz and E. García-González and L. Rello and M. Resano},
url = {https://www.sciencedirect.com/science/article/pii/S0584854717303129},
doi = {https://doi.org/10.1016/j.sab.2017.11.003},
issn = {0584-8547},
year = {2018},
date = {2018-01-01},
journal = {Spectrochimica Acta Part B: Atomic Spectroscopy},
volume = {139},
pages = {13-19},
abstract = {Home-based collection protocols for clinical specimens are actively pursued as a means of improving life quality of patients. In this sense, dried blood spots (DBS) are proposed as a non-invasive and even self-administered alternative to sampling whole venous blood. This contribution explores the potential of energy dispersive X-ray fluorescence spectrometry for the simultaneous and direct determination of some major (S, Cl, K, Na), minor (P, Fe) and trace (Ca, Cu, Zn) elements in blood, after its deposition onto clinical filter papers, thus giving rise to DBS. For quantification purposes the best strategy was to use matrix-matched blood samples of known analyte concentrations. The accuracy and precision of the method were evaluated by analysis of a blood reference material (Seronorm™ trace elements whole blood L3). Quantitative results were obtained for the determination of P, S, Cl, K and Fe, and limits of detection for these elements were adequate, taking into account their typical concentrations in real blood samples. Determination of Na, Ca, Cu and Zn was hampered by the occurrence of high sample support (Na, Ca) and instrumental blanks (Cu, Zn). Therefore, the quantitative determination of these elements at the levels expected in blood samples was not feasible. The methodology developed was applied to the analysis of several blood samples and the results obtained were compared with those reported by standard techniques. Overall, the performance of the method developed is promising and it could be used to determine the aforementioned elements in blood samples in a simple, fast and economic way. Furthermore, its non-destructive nature enables further analyses by means of complementary techniques to be carried out.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Home-based collection protocols for clinical specimens are actively pursued as a means of improving life quality of patients. In this sense, dried blood spots (DBS) are proposed as a non-invasive and even self-administered alternative to sampling whole venous blood. This contribution explores the potential of energy dispersive X-ray fluorescence spectrometry for the simultaneous and direct determination of some major (S, Cl, K, Na), minor (P, Fe) and trace (Ca, Cu, Zn) elements in blood, after its deposition onto clinical filter papers, thus giving rise to DBS. For quantification purposes the best strategy was to use matrix-matched blood samples of known analyte concentrations. The accuracy and precision of the method were evaluated by analysis of a blood reference material (Seronorm™ trace elements whole blood L3). Quantitative results were obtained for the determination of P, S, Cl, K and Fe, and limits of detection for these elements were adequate, taking into account their typical concentrations in real blood samples. Determination of Na, Ca, Cu and Zn was hampered by the occurrence of high sample support (Na, Ca) and instrumental blanks (Cu, Zn). Therefore, the quantitative determination of these elements at the levels expected in blood samples was not feasible. The methodology developed was applied to the analysis of several blood samples and the results obtained were compared with those reported by standard techniques. Overall, the performance of the method developed is promising and it could be used to determine the aforementioned elements in blood samples in a simple, fast and economic way. Furthermore, its non-destructive nature enables further analyses by means of complementary techniques to be carried out.
2017
García-González, Elena; Aramendía, Maite; González-Tarancón, Ricardo; Romero-Sánchez, Naiara; Rello, Luis
Detecting paraprotein interference on a direct bilirubin assay by reviewing the photometric reaction data Artículo de revista
En: Clin Chem Lab Med, vol. 55, no 8, pp. 1178–1185, 2017, ISSN: 1437-4331.
@article{pmid28076302,
title = {Detecting paraprotein interference on a direct bilirubin assay by reviewing the photometric reaction data},
author = {Elena García-González and Maite Aramendía and Ricardo González-Tarancón and Naiara Romero-Sánchez and Luis Rello},
doi = {10.1515/cclm-2016-0690},
issn = {1437-4331},
year = {2017},
date = {2017-07-01},
journal = {Clin Chem Lab Med},
volume = {55},
number = {8},
pages = {1178--1185},
abstract = {BACKGROUND: The direct bilirubin (D-Bil) assay on the AU Beckman Coulter instrumentation can be interfered by paraproteins, which may result in spurious D-Bil results. In a previous work, we took advantage of this fact to detect this interference, thus helping with the identification of patients with unsuspected monoclonal gammopathies. In this work, we investigate the possibility to detect interference based on the review of the photometric reactions, regardless of the D-Bil result.
METHODS: The D-Bil assay was carried out in a set of 2164 samples. It included a group of 164 samples with paraproteins (67 of which caused interference on the assay), as well as different groups of samples for which high absorbance background readings could also be expected (i.e. hemolyzed, lipemic, or icteric samples). Photometric reaction data were reviewed and receiver operating characteristics (ROC) curves were used to establish a cut-off for absorbance that best discriminates interference.
RESULTS: The best cut-off was 0.0100 for the absorbance at the first photometric point of the complementary wavelength in the blank cuvette. Once the optimal cut-off for probable interference was selected, all samples analyzed in our laboratory that provided absorbance values above this cut-off were further investigated to try to discover paraproteins. During a period of 6 months, we detected 44 samples containing paraproteins, five of which belonged to patients with non-diagnosed monoclonal gammopathies.
CONCLUSIONS: Review of the photometric reaction data permits the systematic detection of paraprotein interference on the D-Bil AU assay, even for samples for which reasonable results are obtained.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
BACKGROUND: The direct bilirubin (D-Bil) assay on the AU Beckman Coulter instrumentation can be interfered by paraproteins, which may result in spurious D-Bil results. In a previous work, we took advantage of this fact to detect this interference, thus helping with the identification of patients with unsuspected monoclonal gammopathies. In this work, we investigate the possibility to detect interference based on the review of the photometric reactions, regardless of the D-Bil result.
METHODS: The D-Bil assay was carried out in a set of 2164 samples. It included a group of 164 samples with paraproteins (67 of which caused interference on the assay), as well as different groups of samples for which high absorbance background readings could also be expected (i.e. hemolyzed, lipemic, or icteric samples). Photometric reaction data were reviewed and receiver operating characteristics (ROC) curves were used to establish a cut-off for absorbance that best discriminates interference.
RESULTS: The best cut-off was 0.0100 for the absorbance at the first photometric point of the complementary wavelength in the blank cuvette. Once the optimal cut-off for probable interference was selected, all samples analyzed in our laboratory that provided absorbance values above this cut-off were further investigated to try to discover paraproteins. During a period of 6 months, we detected 44 samples containing paraproteins, five of which belonged to patients with non-diagnosed monoclonal gammopathies.
CONCLUSIONS: Review of the photometric reaction data permits the systematic detection of paraprotein interference on the D-Bil AU assay, even for samples for which reasonable results are obtained.
METHODS: The D-Bil assay was carried out in a set of 2164 samples. It included a group of 164 samples with paraproteins (67 of which caused interference on the assay), as well as different groups of samples for which high absorbance background readings could also be expected (i.e. hemolyzed, lipemic, or icteric samples). Photometric reaction data were reviewed and receiver operating characteristics (ROC) curves were used to establish a cut-off for absorbance that best discriminates interference.
RESULTS: The best cut-off was 0.0100 for the absorbance at the first photometric point of the complementary wavelength in the blank cuvette. Once the optimal cut-off for probable interference was selected, all samples analyzed in our laboratory that provided absorbance values above this cut-off were further investigated to try to discover paraproteins. During a period of 6 months, we detected 44 samples containing paraproteins, five of which belonged to patients with non-diagnosed monoclonal gammopathies.
CONCLUSIONS: Review of the photometric reaction data permits the systematic detection of paraprotein interference on the D-Bil AU assay, even for samples for which reasonable results are obtained.
García-González, Elena; Rello, Luis; Lalaguna, Paula; Conde, Santiago; García-Jiménez, Inmaculada; Castejón, Esperanza; Izquierdo, Beatriz; Haddad, María
Utilidad de la determinación de cobre en periodo neonatal. Enfermedad de Menkes Artículo de revista
En: Revista del Laboratorio Clínico, vol. 10, no 2, pp. 95-99, 2017, ISSN: 1888-4008.
@article{GARCIAGONZALEZ201795,
title = {Utilidad de la determinación de cobre en periodo neonatal. Enfermedad de Menkes},
author = {Elena García-González and Luis Rello and Paula Lalaguna and Santiago Conde and Inmaculada García-Jiménez and Esperanza Castejón and Beatriz Izquierdo and María Haddad},
url = {https://www.sciencedirect.com/science/article/pii/S1888400817300041},
doi = {https://doi.org/10.1016/j.labcli.2016.11.003},
issn = {1888-4008},
year = {2017},
date = {2017-01-01},
journal = {Revista del Laboratorio Clínico},
volume = {10},
number = {2},
pages = {95-99},
abstract = {Resumen
Bajas concentraciones séricas de Cu en neonatos pueden ser la primera señal de una ingesta deficiente de este elemento o, alternativamente, de enfermedades genéticas que afectan su metabolismo. Desgraciadamente, es difícil la interpretación de las concentraciones de Cu en esta población, ya que están influenciadas por distintos factores, entre ellos la prematuridad, el tipo de alimentación y la presencia de un estado inflamatorio. Sin embargo, en el caso que aquí se describe fue la baja concentración sérica de Cu la primera pista para el diagnóstico de enfermedad de Menkes. Se demuestra así la utilidad de la determinación de Cu dentro de protocolos neurometabólicos y de retraso psicomotor en población neonatal y lactante.
Low serum Cu concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic diseases affecting Cu metabolism. Unfortunately, interpretation of serum Cu concentrations in this population is difficult because they also influenced by several variables, such as, prematurity, type of feeding and inflammatory conditions. However, in the case described in this paper was a low serum Cu concentration the first clue for diagnosing Menkes disease. It is so demonstrated the usefulness of Cu determination within neurometabolic or psychomotor retardation protocols for newborn and infant populations.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Resumen
Bajas concentraciones séricas de Cu en neonatos pueden ser la primera señal de una ingesta deficiente de este elemento o, alternativamente, de enfermedades genéticas que afectan su metabolismo. Desgraciadamente, es difícil la interpretación de las concentraciones de Cu en esta población, ya que están influenciadas por distintos factores, entre ellos la prematuridad, el tipo de alimentación y la presencia de un estado inflamatorio. Sin embargo, en el caso que aquí se describe fue la baja concentración sérica de Cu la primera pista para el diagnóstico de enfermedad de Menkes. Se demuestra así la utilidad de la determinación de Cu dentro de protocolos neurometabólicos y de retraso psicomotor en población neonatal y lactante.
Low serum Cu concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic diseases affecting Cu metabolism. Unfortunately, interpretation of serum Cu concentrations in this population is difficult because they also influenced by several variables, such as, prematurity, type of feeding and inflammatory conditions. However, in the case described in this paper was a low serum Cu concentration the first clue for diagnosing Menkes disease. It is so demonstrated the usefulness of Cu determination within neurometabolic or psychomotor retardation protocols for newborn and infant populations.
Bajas concentraciones séricas de Cu en neonatos pueden ser la primera señal de una ingesta deficiente de este elemento o, alternativamente, de enfermedades genéticas que afectan su metabolismo. Desgraciadamente, es difícil la interpretación de las concentraciones de Cu en esta población, ya que están influenciadas por distintos factores, entre ellos la prematuridad, el tipo de alimentación y la presencia de un estado inflamatorio. Sin embargo, en el caso que aquí se describe fue la baja concentración sérica de Cu la primera pista para el diagnóstico de enfermedad de Menkes. Se demuestra así la utilidad de la determinación de Cu dentro de protocolos neurometabólicos y de retraso psicomotor en población neonatal y lactante.
Low serum Cu concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic diseases affecting Cu metabolism. Unfortunately, interpretation of serum Cu concentrations in this population is difficult because they also influenced by several variables, such as, prematurity, type of feeding and inflammatory conditions. However, in the case described in this paper was a low serum Cu concentration the first clue for diagnosing Menkes disease. It is so demonstrated the usefulness of Cu determination within neurometabolic or psychomotor retardation protocols for newborn and infant populations.