Luis Rello Varas

@article{D0JA00494D,

title = {Laser ablation of microdroplets for copper isotopic analysis via MC-ICP-MS. Analysis of serum microsamples for the diagnosis and follow-up treatment of Wilson's disease},

author = {M. Carmen García-Poyo and Sylvain Bérail and Anne Laure Ronzani and Luis Rello and Elena García-González and Bénédicte Lelièvre and Paul Cales and Flavio V. Nakadi and Maite Aramendía and Martín Resano and Christophe Pécheyran},

url = {http://dx.doi.org/10.1039/D0JA00494D},

doi = {10.1039/D0JA00494D},

year  = {2021},

date = {2021-01-01},

journal = {J. Anal. At. Spectrom.},

volume = {36},

issue = {5},

pages = {968-980},

publisher = {The Royal Society of Chemistry},

abstract = {Cu isotopic analysis can provide valuable insight when investigating Wilson's disease (WD), but one of the problems related to this type of study is that usually low sample volumes are available and/or low Cu concentrations are found in these samples. This paper presents a new approach for Cu isotope ratio determination that requires only 1 μL of pre-treated serum sample per replicate (after Cu separation and preconcentration to a Cu concentration range between 0.3 and 4 mg L−1). Cu determination was carried out by direct μ-injection of 1 μL of pretreated serum samples into an ICP-MS, offering a LOD of 3 μg L−1. For Cu isotopic analysis, the method presented is based on micro-volume deposition on a pure silicon wafer and subsequent ablation analysis by fsLA-MC-ICP-MS. Cu isotopic analysis of NIST 3114 at 1 mg L−1 Cu concentration with the self-bracketing method provided average δ65Cu values of −0.01 ± 0.19‰ (2SD) and an internal precision value of 517 ppm. This method was deployed for the analysis of serum samples from WD patients under different treatments, as well as healthy newborns and patients with other liver disorders. The results seem to link decreased δ65Cu values to Cu release from the liver, further demonstrating the potential of this type of analysis in the biomedical context.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{BORQUEFERNANDO20218,

title = {Genetic counseling in prostate cancer: How to implement it in daily clinical practice?},

author = {A. Borque-Fernando and R. Espílez and D. Miramar and D. Corbatón and A. Rodríguez and E. Castro and J. Mateo and L. Rello and A. Méndez and M. J. Gil Sanz},

url = {https://www.sciencedirect.com/science/article/pii/S2173578620301566},

doi = {https://doi.org/10.1016/j.acuroe.2020.08.010},

issn = {2173-5786},

year  = {2021},

date = {2021-01-01},

journal = {Actas Urológicas Españolas (English Edition)},

volume = {45},

number = {1},

pages = {8-20},

abstract = {Prostate cancer plays an undeniably prominent role in public health in our days and health systems. Its epidemiological impact is quantitatively very close to that of other tumors such as colon cancer and breast cancer, in which genetic counseling is part of their routine clinical practice, both in the initial evaluation and in the selection of therapeutic strategies. Hereditary cancer syndromes, breast/ovarian and Lynch syndrome are part of genetic counseling in these tumors. Currently, we also know that they can be associated to prostate cancer. The time has come to implement genetic counseling in prostate cancer from the earliest stages of its approach, from initial suspicion to the most advanced tumors. We present an updated review carried out by our interdisciplinary working group on scientific literature, clinical practice guidelines and consensus documents, aimed at the creation and drafting of a ‘Protocol for genetic counseling in prostate cancer’ for the study of germline, with easy application in different healthcare settings. This protocol is currently being implemented in our routine practice and provides answers to 3 specific questions: Who should receive genetic counseling for prostate cancer? Which gene panel should be analyzed? How should counseling be done according to the results obtained? Other aspects about who should perform genetic counseling, ethical considerations and regulations are also collected. 

Resumen 

El cáncer de próstata tiene un protagonismo socio-sanitario innegable en nuestros días y sistemas de salud. Su impacto epidemiológico cuantitativamente está muy próximo a otros tumores como el cáncer de colon y el cáncer de mama, en los que el asesoramiento genético forma parte de su práctica clínica habitual, tanto en la evaluación inicial como en la selección de estrategias terapéuticas. Los síndromes de cáncer hereditario, mama/ovario y síndrome de Lynch, forman parte del asesoramiento genético en estos tumores y hoy día también sabemos que pueden tener relación con el cáncer de próstata. Ha llegado el momento de implementar el asesoramiento genético en cáncer de próstata desde las etapas más iniciales de su abordaje, desde la sospecha inicial hasta los tumores más avanzados.Presentamos una revisión actualizada de nuestro grupo de trabajo interdisciplinar sobre la literatura científica, guías de práctica clínica y documentos de consenso hasta la creación y redacción de un «Protocolo de asesoramiento genético en cáncer de próstata», centrado en el estudio de línea germinal, de fácil aplicabilidad en los diferentes entornos asistenciales. Dicho protocolo se encuentra actualmente implementado en nuestra práctica habitual y da respuesta a tres preguntas concretas: ¿A quién realizar asesoramiento genético en cáncer de próstata?, ¿qué panel de genes analizar?, y ¿cómo aconsejar de acuerdo con los resultados obtenidos? Otros aspectos acerca de quién debe realizar el asesoramiento genético, consideraciones éticas y normativa también son recogidos.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31637781,

title = {Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis},

author = {Ricardo González-Tarancón and Rosalia Sanmartín and Fabiola Lorente and Elvira Salvador-Rupérez and Angela Hernández-Martín and Luis Rello and Jose Puzo and Yolanda Gilaberte},

doi = {10.1111/pde.14025},

issn = {1525-1470},

year  = {2020},

date = {2020-01-01},

journal = {Pediatr Dermatol},

volume = {37},

number = {1},

pages = {98--102},

abstract = {BACKGROUND/OBJECTIVES: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of atopic disease. The presence of loss-of-function mutations in the filaggrin gene (FLG) is the main predisposing factor for AD FLG mutations show ethnic and geographical variations, even between European populations. We sought to determine the frequency of the 3 most common FLG null mutations in a population of Spanish children consisting of healthy controls and AD patients. We also investigated the association between these 3 FLG mutations and AD.



METHODS: A total of 214 participants (111 AD patients and 103 healthy controls) were enrolled in this study. Genotyping for 3 FLG null mutations (R501X, 2282del4, and R2447X) was performed by conventional Sanger sequencing.



RESULTS: The combined mutation frequency was 1.9% in the control group and 12.6% in the AD group. The most common FLG mutation in AD patients was R501X (9.9%), followed by R2447X (2.7%) and 2282del4 (1.8%).



CONCLUSION: These findings further our understanding of the prevalence of FLG null mutations in the Spanish population, and suggest that the frequency of FLG mutations in AD patients in Spain is slightly higher than that of other Mediterranean countries.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@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}

}

@article{RESANO201875,

title = {Dried matrix spots and clinical elemental analysis. Current status, difficulties, and opportunities},

author = {M. Resano and M. A. Belarra and E. García-Ruiz and M. Aramendía and L. Rello},

url = {https://www.sciencedirect.com/science/article/pii/S0165993617302650},

doi = {https://doi.org/10.1016/j.trac.2017.12.004},

issn = {0165-9936},

year  = {2018},

date = {2018-01-01},

journal = {TrAC Trends in Analytical Chemistry},

volume = {99},

pages = {75-87},

abstract = {This article examines the increasing importance of dried matrix spots (DMS), such as dried blood spots, dried urine spots, etc., in biomedical research, the challenges associated with their analysis when quantitative elemental information is aimed at, as well as the benefits deriving from the further usage of these types of samples. The article briefly reviews the historical evolution of this sampling approach in elemental clinical analysis, stressing prospective areas of applications (e.g., newborns or prosthesis control), the methodologies most recently developed to produce DMS of known volume, as well as novel strategies proposed to analyze them, often related to direct solid sampling techniques or fast lixiviation methods. Finally, the article discusses the type of information that could be obtained after isotopic analysis of DMS when targeting non-traditional stable isotopes (e.g., Cu, Fe or Zn), which can significantly help in the early diagnosis of some medical conditions (e.g. Wilson's disease).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}