2023
Journal Articles
Maksoudian, Christy; Izci, Mukaddes; Salembier, Robbe; Gilabert, Irati Perez; Gonçalves, Filipa Roque; Luci, Carla Rios; Bolea-Fernandez, Eduardo; Vanhaecke, Frank; Manshian, Bella B.; Soenen, Stefaan J.
Gold Nanoparticle Delivery to Solid Tumors by Macrophage Depletion, Hypoxia Inhibition, and Collagen Degradation Journal Article
En: ACS Applied Nano Materials, vol. 6, no. 9, pp. 7605-7618, 2023.
@article{doi:10.1021/acsanm.3c00780,
title = {Gold Nanoparticle Delivery to Solid Tumors by Macrophage Depletion, Hypoxia Inhibition, and Collagen Degradation},
author = {Christy Maksoudian and Mukaddes Izci and Robbe Salembier and Irati Perez Gilabert and Filipa Roque Gonçalves and Carla Rios Luci and Eduardo Bolea-Fernandez and Frank Vanhaecke and Bella B. Manshian and Stefaan J. Soenen},
url = {https://doi.org/10.1021/acsanm.3c00780},
doi = {10.1021/acsanm.3c00780},
year = {2023},
date = {2023-01-01},
journal = {ACS Applied Nano Materials},
volume = {6},
number = {9},
pages = {7605-7618},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Law, Cindy Ka Y.; Bolea-Fernandez, Eduardo; Liu, Tong; Bonin, Luiza; Wallaert, Elien; Verbeken, Kim; Gusseme, Bart De; Vanhaecke, Frank; Boon, Nico
The influence of H2 partial pressure on biogenic palladium nanoparticle production assessed by single-cell ICP-mass spectrometry Journal Article
En: Microbial Biotechnology, vol. 16, no. 5, pp. 901-914, 2023.
@article{https://doi.org/10.1111/1751-7915.14140,
title = {The influence of H2 partial pressure on biogenic palladium nanoparticle production assessed by single-cell ICP-mass spectrometry},
author = {Cindy Ka Y. Law and Eduardo Bolea-Fernandez and Tong Liu and Luiza Bonin and Elien Wallaert and Kim Verbeken and Bart De Gusseme and Frank Vanhaecke and Nico Boon},
url = {https://enviromicro-journals.onlinelibrary.wiley.com/doi/abs/10.1111/1751-7915.14140},
doi = {https://doi.org/10.1111/1751-7915.14140},
year = {2023},
date = {2023-01-01},
urldate = {2023-01-01},
journal = {Microbial Biotechnology},
volume = {16},
number = {5},
pages = {901-914},
abstract = {Abstract The production of biogenic palladium nanoparticles (bio-Pd NPs) is widely studied due to their high catalytic activity, which depends on the size of nanoparticles (NPs). Smaller NPs (here defined as <100 nm) are more efficient due to their higher surface/volume ratio. In this work, inductively coupled plasma-mass spectrometry (ICP-MS), flow cytometry (FCM) and transmission electron microscopy (TEM) were combined to obtain insight into the formation of these bio-Pd NPs. The precipitation of bio-Pd NPs was evaluated on a cell-per-cell basis using single-cell ICP-MS (SC-ICP-MS) combined with TEM images to assess how homogenously the particles were distributed over the cells. The results provided by SC-ICP-MS were consistent with those provided by “bulk” ICP-MS analysis and FCM. It was observed that heterogeneity in the distribution of palladium over an entire cell population is strongly dependent on the Pd2+ concentration, biomass and partial H2 pressure. The latter three parameters affected the particle size, ranging from 15.6 to 560 nm, and exerted a significant impact on the production of the bio-Pd NPs. The TEM combined with SC-ICP-MS revealed that the mass distribution for bacteria with high Pd content (144 fg Pd cell−1) indicated the presence of a large number of very small NPs (D50 = 15.6 nm). These results were obtained at high cell density (1 × 105 ± 3 × 104 cells μl−1) and H2 partial pressure (180 ml H2). In contrast, very large particles (D50 = 560 nm) were observed at low cell density (3 × 104 ± 10 × 102 cells μl−1) and H2 partial pressure (10–100 ml H2). The influence of the H2 partial pressure on the nanoparticle size and the possibility of size-tuned nanoparticles are presented.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Law, Cindy Ka Y; Kundu, Kankana; Bonin, Luiza; Peñacoba-Antona, Lorena; Bolea-Fernandez, Eduardo; Vanhaecke, Frank; Rabaey, Korneel; Esteve-Núñez, Abraham; Gusseme, Bart De; Boon, Nico
En: Journal of Environmental Sciences, vol. 128, pp. 203-212, 2023, ISSN: 1001-0742.
@article{LAW2023203,
title = {Electrochemically assisted production of biogenic palladium nanoparticles for the catalytic removal of micropollutants in wastewater treatment plants effluent},
author = {Cindy Ka Y Law and Kankana Kundu and Luiza Bonin and Lorena Peñacoba-Antona and Eduardo Bolea-Fernandez and Frank Vanhaecke and Korneel Rabaey and Abraham Esteve-Núñez and Bart De Gusseme and Nico Boon},
url = {https://www.sciencedirect.com/science/article/pii/S1001074222004211},
doi = {https://doi.org/10.1016/j.jes.2022.08.018},
issn = {1001-0742},
year = {2023},
date = {2023-01-01},
journal = {Journal of Environmental Sciences},
volume = {128},
pages = {203-212},
abstract = {Biogenic palladium nanoparticles (bio-Pd NPs) are used for the reductive transformation and/or dehalogenation of persistent micropollutants. In this work, H2 (electron donor) was produced in situ by an electrochemical cell, permitting steered production of differently sized bio-Pd NPs. The catalytic activity was first assessed by the degradation of methyl orange. The NPs showing the highest catalytic activity were selected for the removal of micropollutants from secondary treated municipal wastewater. The synthesis at different H2 flow rates (0.310 L/hr or 0.646 L/hr) influenced the bio-Pd NPs size. The NPs produced over 6 hr at a low H2 flow rate had a larger size (D50 = 39.0 nm) than those produced in 3 hr at a high H2 flow rate (D50 = 23.2 nm). Removal of 92.1% and 44.3% of methyl orange was obtained after 30 min for the NPs with sizes of 39.0 nm and 23.2 nm, respectively. Bio-Pd NPs of 39.0 nm were used to treat micropollutants present in secondary treated municipal wastewater at concentrations ranging from µg/L to ng/L. Effective removal of 8 compounds was observed: ibuprofen (69.5%) < sulfamethoxazole (80.6%) < naproxen (81.4%) < furosemide (89.7%) < citalopram (91.7%) < diclofenac (91.9%) < atorvastatin (> 94.3%) < lorazepam (97.2%). Removal of fluorinated antibiotics occurred at > 90% efficiency. Overall, these data indicate that the size, and thus the catalytic activity of the NPs can be steered and that the removal of challenging micropollutants at environmentally relevant concentrations can be achieved through the use of bio-Pd NPs.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Izci, Mukaddes; Maksoudian, Christy; Gonçalves, Filipa; Gilabert, Irati Pérez; Luci, Carla Rios; Bolea-Fernandez, Eduardo; Vanhaecke, Frank; Manshian, Bella B.; Soenen, Stefaan J.
The Efficacy of Nanoparticle Delivery to Hypoxic Solid Tumors by ciRGD Co-Administration Depends on Neuropilin-1 and Neutrophil Levels Journal Article
En: Advanced Healthcare Materials, vol. 12, no. 24, pp. 2300594, 2023.
@article{https://doi.org/10.1002/adhm.202300594,
title = {The Efficacy of Nanoparticle Delivery to Hypoxic Solid Tumors by ciRGD Co-Administration Depends on Neuropilin-1 and Neutrophil Levels},
author = {Mukaddes Izci and Christy Maksoudian and Filipa Gonçalves and Irati Pérez Gilabert and Carla Rios Luci and Eduardo Bolea-Fernandez and Frank Vanhaecke and Bella B. Manshian and Stefaan J. Soenen},
url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/adhm.202300594},
doi = {https://doi.org/10.1002/adhm.202300594},
year = {2023},
date = {2023-01-01},
journal = {Advanced Healthcare Materials},
volume = {12},
number = {24},
pages = {2300594},
abstract = {Abstract The ability to improve nanoparticle delivery to solid tumors is an actively studied domain, where various mechanisms are looked into. In previous work, the authors have looked into nanoparticle size, tumor vessel normalization, and disintegration, and here it is aimed to continue this work by performing an in-depth mechanistic study on the use of ciRGD peptide co-administration. Using a multiparametric approach, it is observed that ciRGD can improve nanoparticle delivery to the tumor itself, but also to tumor cells specifically better than vessel normalization strategies. The effect depends on the level of tumor perfusion, hypoxia, neutrophil levels, and vessel permeability. This work shows that upon characterizing tumors for these parameters, conditions can be selected that can optimally benefit from ciRGD co-administration as a means to improve NP delivery to solid tumors.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
2022
Journal Articles
Aramendía, Maite; García-Mesa, Juan Carlos; Alonso, Elisa Vereda; Garde, Raúl; Bazo, Antonio; Resano, Javier; Resano, Martín
En: Analytica Chimica Acta, vol. 1205, pp. 339738, 2022, ISSN: 0003-2670.
@article{ARAMENDIA2022339738,
title = {A novel approach for adapting the standard addition method to single particle-ICP-MS for the accurate determination of NP size and number concentration in complex matrices},
author = {Maite Aramendía and Juan Carlos García-Mesa and Elisa Vereda Alonso and Raúl Garde and Antonio Bazo and Javier Resano and Martín Resano},
url = {https://www.sciencedirect.com/science/article/pii/S0003267022003099},
doi = {https://doi.org/10.1016/j.aca.2022.339738},
issn = {0003-2670},
year = {2022},
date = {2022-01-01},
journal = {Analytica Chimica Acta},
volume = {1205},
pages = {339738},
abstract = {This paper presents a novel approach, based on the standard addition method, for overcoming the matrix effects that often hamper the accurate characterization of nanoparticles (NPs) in complex samples via single particle inductively coupled plasma mass spectrometry (SP-ICP-MS). In this approach, calibration of the particle size is performed by two different methods: (i) by spiking a suspension of NPs standards of known size containing the analyte, or (ii) by spiking the sample with ionic standards; either way, the measured sensitivity is used in combination with the transport efficiency (TE) for sizing the NPs. Moreover, such transport efficiency can be readily obtained from the data obtained via both calibration methods mentioned above, so that the particle number concentration can also be determined. The addition of both ionic and NP standards can be performed on-line, by using a T-piece with two inlet lines of different dimensions. The smaller of the two is used for the standards, thus ensuring a constant and minimal sample dilution. As a result of the spiking of the samples, mixed histograms including the signal of the sample and that of the standards are obtained. However, the use of signal deconvolution approaches permits to extract the information, even in cases of signal populations overlapping. For proofing the concept, characterization of a 50 nm AuNPs suspension prepared in three different media (i.e., deionized water, 5% ethanol, and 2.5% tetramethyl ammonium hydroxide-TMAH) was carried out. Accurate results were obtained in all cases, in spite of the matrix effects detected in some media. Overall, the approach proposed offers flexibility, so it can be adapted to different situations, but it might be specially indicated for samples for which the matrix is not fully known and/or dilution is not possible/recommended.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Resano, M.; Aramendía, M.; García-Ruiz, E.; Bazo, A.; Bolea-Fernandez, E.; Vanhaecke, F.
Living in a transient world: ICP-MS reinvented via time-resolved analysis for monitoring single events Journal Article
En: Chem. Sci., vol. 13, iss. 16, pp. 4436-4473, 2022.
@article{D1SC05452J,
title = {Living in a transient world: ICP-MS reinvented via time-resolved analysis for monitoring single events},
author = {M. Resano and M. Aramendía and E. García-Ruiz and A. Bazo and E. Bolea-Fernandez and F. Vanhaecke},
url = {http://dx.doi.org/10.1039/D1SC05452J},
doi = {10.1039/D1SC05452J},
year = {2022},
date = {2022-01-01},
urldate = {2022-01-01},
journal = {Chem. Sci.},
volume = {13},
issue = {16},
pages = {4436-4473},
publisher = {The Royal Society of Chemistry},
abstract = {After 40 years of development, inductively coupled plasma-mass spectrometry (ICP-MS) can hardly be considered as a novel technique anymore. ICP-MS has become the reference when it comes to multi-element bulk analysis at (ultra)trace levels, as well as to isotope ratio determination for metal(loid)s. However, over the last decade, this technique has managed to uncover an entirely new application field, providing information in a variety of contexts related to the individual analysis of single entities (e.g., nanoparticles, cells, or micro/nanoplastics), thus addressing new societal challenges. And this profound expansion of its application range becomes even more remarkable when considering that it has been made possible in an a priori simple way: by providing faster data acquisition and developing the corresponding theoretical substrate to relate the time-resolved signals thus obtained with the elemental composition of the target entities. This review presents the underlying concepts behind single event-ICP-MS, which are needed to fully understand its potential, highlighting key areas of application (e.g., single particle-ICP-MS or single cell-ICP-MS) as well as of future development (e.g., micro/nanoplastics).},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Navarro-Bielsa, Alba; Abadías-Granado, Isabel; Morales-Callaghan, Ana María; Suso-Estívalez, Catalina; Povar-Echeverría, Marina; Rello, Luis; Gilaberte, Yolanda
Experience with Cutaneous Manifestations in COVID-19 Patients during the Pandemic Journal Article
En: J Clin Med, vol. 11, no. 3, 2022, ISSN: 2077-0383.
@article{pmid35160051,
title = {Experience with Cutaneous Manifestations in COVID-19 Patients during the Pandemic},
author = {Alba Navarro-Bielsa and Isabel Abadías-Granado and Ana María Morales-Callaghan and Catalina Suso-Estívalez and Marina Povar-Echeverría and Luis Rello and Yolanda Gilaberte},
doi = {10.3390/jcm11030600},
issn = {2077-0383},
year = {2022},
date = {2022-01-01},
journal = {J Clin Med},
volume = {11},
number = {3},
abstract = {After the beginning of the SARS-CoV-2 pandemic, our dermatology department created a multidisciplinary unit to manage patients with cutaneous manifestations associated with COVID-19. With the objective of identifying skin lesions in patients with suspected COVID-19 and evaluating possible associations with systemic involvement, other infectious agents and coagulation disorders, we carried out a prospective observational study that included all patients that attended our COVID-19 dermatology clinic with a multidisciplinary protocol. A total of 63 patients (mean 34.6 years) were enrolled between May 2020 and February 2021. Overall, 27 patients (42.9%) had a positive COVID-19 test, and 74.6% had COVID-19 clinical signs. The most common skin lesion was maculopapular rash (36.5%), predominantly seen in male (54.2%) and older patients (42 vs. 30 years), followed by chilblain-like lesions (20.6%) in younger patients (13.9 vs. 20.9 years) who were predominantly barefoot at home (69.2%); these patients exhibited a tendency towards a negative COVID-19 test. A total of 12 patients (19.1%) had positive serology for herpesvirus 6 (IgM or IgG). We conclude that the COVID-19-associated skin lesions we observed were similar to those previously described. Questions as to the underlying mechanisms remain. Interferon, possibly aided by cold exposure, may cause perniosis-like lesions. Other cutaneous manifestations were similar to those caused by other viruses, suggesting that SARS-CoV-2 may reactivate or facilitate other viral infections.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Bazo, Antonio; Garde, Raúl; Garcia-Ruiz, Esperanza; Aramendía, Maite; Nakadi, Flávio V.; Resano, Martín
En: J. Anal. At. Spectrom., vol. 37, iss. 12, pp. 2517-2528, 2022.
@article{D2JA00245K,
title = {High-resolution continuum source graphite furnace molecular absorption spectrometry for the monitoring of Sr isotopes via SrF formation: a case study},
author = {Antonio Bazo and Raúl Garde and Esperanza Garcia-Ruiz and Maite Aramendía and Flávio V. Nakadi and Martín Resano},
url = {http://dx.doi.org/10.1039/D2JA00245K},
doi = {10.1039/D2JA00245K},
year = {2022},
date = {2022-01-01},
urldate = {2022-01-01},
journal = {J. Anal. At. Spectrom.},
volume = {37},
issue = {12},
pages = {2517-2528},
publisher = {The Royal Society of Chemistry},
abstract = {High-resolution continuum source graphite furnace molecular absorption spectrometry (HR CS GFMAS) can provide isotopic information under certain conditions, thus broadening its field of application. However, to date, only elements with two major stable isotopes have been monitored via this technique. In this work, the possibilities of HR CS GFMAS to determine isotope ratios of elements with more than two stable isotopes are evaluated for the first time. For this purpose, Sr was chosen as the analyte and SrF as the target species, so four different signals corresponding to four stable Sr isotopes (88Sr, 87Sr, 86Sr and 84Sr) should be distinguished. Nevertheless, due to the number of strontium isotopes, the shape of the peaks, and the resolution that the instrument exhibits in the spectral window, isotopic signals overlap, thus leading to potentially biased results. To circumvent this issue, a deconvolution protocol, consisting of measuring and correcting for the contribution of each isotope on the signals of the rest, was developed. These contributions were calculated as the signal ratio between the absorbance of the monoisotopic profile at the wavelengths where the maxima of other isotopes are expected and at its own maximum. Therefore, the interference can be simply subtracted from the net signal registered for the interfered isotope. The performance of this method was demonstrated for both naturally abundant and isotope-enriched Sr standards, paving the way for future applications in this field. Analysis of a real sample (tap water) spiked with a 84Sr solution is also demonstrated.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
2021
Journal Articles
Infante, Heidi Goenaga; Chalmers, John; Dent, Geoffrey; Todoli, Jose Luis; Collingwood, Joanna; Telling, Neil; Resano, Martin; Limbeck, Andreas; Schoenberger, Torsten; Hibbert, D. Brynn; LeGresley, Adam; Adams, Kristie; Craston, Derek
Glossary of methods and terms used in analytical spectroscopy (IUPAC Recommendations 2019) Journal Article
En: Pure and Applied Chemistry, vol. 93, iss. 6, pp. 647-776, 2021.
@article{nokey,
title = {Glossary of methods and terms used in analytical spectroscopy (IUPAC Recommendations 2019)},
author = {Heidi {Goenaga Infante} and John Chalmers and Geoffrey Dent and Jose Luis Todoli and Joanna Collingwood and Neil Telling and Martin Resano and Andreas Limbeck and Torsten Schoenberger and D. Brynn Hibbert and Adam LeGresley and Kristie Adams and Derek Craston},
url = {https://www.degruyter.com/document/doi/10.1515/pac-2019-0203/html},
doi = {10.1515/pac-2019-0203},
year = {2021},
date = {2021-07-14},
urldate = {2021-07-14},
journal = {Pure and Applied Chemistry},
volume = {93},
issue = {6},
pages = {647-776},
abstract = {Recommendations are given concerning the terminology of concepts and methods used in spectroscopy in analytical chemistry, covering nuclear magnetic resonance spectroscopy, atomic spectroscopy, and vibrational spectroscopy.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Martínez-Morillo, Eduardo; García-García, María; Concha, María Angeles Luengo; Varas, Luis Rello
Evaluation of a new equation for estimating low-density lipoprotein cholesterol through the comparison with various recommended methods Journal Article
En: Biochem Med (Zagreb), vol. 31, no. 1, pp. 010701, 2021, ISSN: 1846-7482.
@article{pmid33380888,
title = {Evaluation of a new equation for estimating low-density lipoprotein cholesterol through the comparison with various recommended methods},
author = {Eduardo Martínez-Morillo and María García-García and María Angeles Luengo Concha and Luis Rello Varas},
doi = {10.11613/BM.2021.010701},
issn = {1846-7482},
year = {2021},
date = {2021-02-01},
journal = {Biochem Med (Zagreb)},
volume = {31},
number = {1},
pages = {010701},
abstract = {INTRODUCTION: The accurate estimation of low-density lipoprotein cholesterol (LDL) is crucial for management of patients at risk of cardiovascular events due to dyslipidemia. The LDL is typically calculated using the Friedewald equation and/or direct homogeneous assays. However, both methods have their own limitations, so other equations have been proposed, including a new equation developed by Sampson. The aim of this study was to evaluate Sampson equation by comparing with the Friedewald and Martin-Hopkins equations, and with a direct LDL method.
MATERIALS AND METHODS: Results of standard lipid profile (total cholesterol (CHOL), high-density lipoprotein cholesterol (HDL) and triglycerides (TG)) were obtained from two anonymized data sets collected at two laboratories, using assays from different manufacturers (Beckman Coulter and Roche Diagnostics). The second data set also included LDL results from a direct assay (Roche Diagnostics). Passing-Bablok and Bland-Altman analysis for method comparison was performed.
RESULTS: A total of 64,345 and 37,783 results for CHOL, HDL and TG were used, including 3116 results from the direct LDL assay. The Sampson and Friedewald equations provided similar LDL results (difference ≤ 0.06 mmol/L, on average) at TG ≤ 2.0 mmol/L. At TG between 2.0 and 4.5 mmol/L, the Sampson-calculated LDL showed a constant bias (- 0.18 mmol/L) when compared with the Martin-Hopkins equation. Similarly, at TG between 4.5 and 9.0 mmol/L, the Sampson equation showed a negative bias when compared with the direct assay, which was proportional (- 16%) to the LDL concentration.
CONCLUSIONS: The Sampson equation may represent a cost-efficient alternative for calculating LDL in clinical laboratories.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
MATERIALS AND METHODS: Results of standard lipid profile (total cholesterol (CHOL), high-density lipoprotein cholesterol (HDL) and triglycerides (TG)) were obtained from two anonymized data sets collected at two laboratories, using assays from different manufacturers (Beckman Coulter and Roche Diagnostics). The second data set also included LDL results from a direct assay (Roche Diagnostics). Passing-Bablok and Bland-Altman analysis for method comparison was performed.
RESULTS: A total of 64,345 and 37,783 results for CHOL, HDL and TG were used, including 3116 results from the direct LDL assay. The Sampson and Friedewald equations provided similar LDL results (difference ≤ 0.06 mmol/L, on average) at TG ≤ 2.0 mmol/L. At TG between 2.0 and 4.5 mmol/L, the Sampson-calculated LDL showed a constant bias (- 0.18 mmol/L) when compared with the Martin-Hopkins equation. Similarly, at TG between 4.5 and 9.0 mmol/L, the Sampson equation showed a negative bias when compared with the direct assay, which was proportional (- 16%) to the LDL concentration.
CONCLUSIONS: The Sampson equation may represent a cost-efficient alternative for calculating LDL in clinical laboratories.
Nakadi, Flávio V.; García-Poyo, M. Carmen; Pécheyran, Christophe; Resano, Martín
En: J. Anal. At. Spectrom., vol. 36, iss. 11, pp. 2370-2382, 2021.
@article{D1JA00233C,
title = {Time-absorbance profile ratio background correction: introducing TAP to correct for spectral overlap in high-resolution continuum source graphite furnace atomic absorption spectrometry},
author = {Flávio V. Nakadi and M. Carmen García-Poyo and Christophe Pécheyran and Martín Resano},
url = {http://dx.doi.org/10.1039/D1JA00233C},
doi = {10.1039/D1JA00233C},
year = {2021},
date = {2021-01-01},
journal = {J. Anal. At. Spectrom.},
volume = {36},
issue = {11},
pages = {2370-2382},
publisher = {The Royal Society of Chemistry},
abstract = {High-resolution continuum source graphite furnace atomic absorption spectrometry HR CS GFAAS provides information about the vicinity of the analytical line, thus effectively transforming a 2-dimension technique (time versus absorbance) into a 3-dimension one (by adding wavelength information), which represents a key advantage when dealing with potential spectral overlaps. Indeed, the occurrence of diatomic molecule absorption often results in high background values in classical AAS, affecting many analyses. The high spectral resolution provided by HR CS AAS in this third dimension enables the use of new tools, first to detect and later to solve this problem. Currently, the software of commercially available HR CS AAS spectrometers is equipped with an algorithm for interference correction, the so-called least-squares background correction (LSBC). Using a spectrum from the interfering species as a correction model, LSBC can correct for the spectral interference by subtracting it. Nevertheless, this approach still poses some problems (e.g., the need to identify the overlapping species). Moreover, there is still a lot of information contained in every measurement that is essentially unused and can help in correcting for spectral overlaps. The time-absorbance profile (TAP) of a species, measured under the same instrumental HR CS AAS conditions using a GF as the atomizer, should be the same at every wavelength measured. Therefore, using a TAP normalized spectrum of the interfering species should be sufficient to subtract it from the normalized absorbance of the atomic line, leaving only the analytical signal of the analyte. This paper proposes the use of such an approach for the first time and discusses in detail how the TAP method can be deployed, without the need to perform any additional measurements or know in advance the nature of the overlapping species. The usefulness of TAP correction for circumventing spectral overlaps and reaching a good agreement with certified/reference values is demonstrated in various situations (e.g., direct determination of Pb in NIST 1570a spinach leaves and NIST 1577b bovine liver, of Ni in NIST 1573 tomato leaves, and of Cu in dried plasma spots produced from whole blood Seronorm™), and its current limitations are highlighted as well.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
García-Poyo, M. Carmen; Ronzani, Anne Laure; Frayret, Jérôme; Bérail, Sylvain; Rello, Luis; García-González, Elena; Lelièvre, Bénédicte; Nakadi, Flávio V.; Aramendía, Maite; Resano, Martín; Pécheyran, Christophe
En: Spectrochimica Acta Part B: Atomic Spectroscopy, vol. 185, pp. 106306, 2021, ISSN: 0584-8547.
@article{GARCIAPOYO2021106306,
title = {Evaluation of electrothermal vaporization for sample introduction aiming at Cu isotopic analysis via multicollector-inductively coupled plasma mass spectrometry},
author = {M. Carmen García-Poyo and Anne Laure Ronzani and Jérôme Frayret and Sylvain Bérail and Luis Rello and Elena García-González and Bénédicte Lelièvre and Flávio V. Nakadi and Maite Aramendía and Martín Resano and Christophe Pécheyran},
url = {https://www.sciencedirect.com/science/article/pii/S0584854721002639},
doi = {https://doi.org/10.1016/j.sab.2021.106306},
issn = {0584-8547},
year = {2021},
date = {2021-01-01},
journal = {Spectrochimica Acta Part B: Atomic Spectroscopy},
volume = {185},
pages = {106306},
abstract = {A new method for Cu isotopic analysis was developed using a commercially available electrothermal vaporization (ETV) device coupled to multicollector-inductively coupled plasma mass spectrometry (MC-ICP-MS). The method demonstrated potential for the isotopic analysis of microsamples (e.g., 5 μL) in a biological context. For example, Cu isotopic analysis of NIST 3114 (diluted to 1 mg L−1 Cu) using self-bracketing provided average δ65Cu values of 0.00 ± 0.17‰ (2SD},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
García-Poyo, M. Carmen; Pécheyran, Christophe; Rello, Luis; García-González, Elena; Rodríguez, Sharay Alonso; Nakadi, Flávio V.; Aramendía, Maite; Resano, Martín
En: J. Anal. At. Spectrom., vol. 36, iss. 8, pp. 1666-1677, 2021.
@article{D1JA00155H,
title = {Determination of Cu in blood via direct analysis of dried blood spots using high-resolution continuum source graphite furnace atomic absorption spectrometry},
author = {M. Carmen García-Poyo and Christophe Pécheyran and Luis Rello and Elena García-González and Sharay Alonso Rodríguez and Flávio V. Nakadi and Maite Aramendía and Martín Resano},
url = {http://dx.doi.org/10.1039/D1JA00155H},
doi = {10.1039/D1JA00155H},
year = {2021},
date = {2021-01-01},
journal = {J. Anal. At. Spectrom.},
volume = {36},
issue = {8},
pages = {1666-1677},
publisher = {The Royal Society of Chemistry},
abstract = {The performance of state-of-the-art high-resolution continuum source graphite furnace atomic absorption spectrometry (HR CS GFAAS) instrumentation and four novel devices to produce dried blood spots of perfectly defined volumes is evaluated with the aim of developing a simple, direct method for the determination of Cu in blood samples. In all cases, it is feasible to obtain accurate quantitative information using any of the four devices tested (Mitra, HemaXis DB10, Capitainer qDBS and HemaPEN) via simple external calibration with aqueous standards. One of the main differences in the performance of such devices is related to the blanks obtained, such that HemaXis DB10 and HemaPEN are preferred when abnormally low Cu levels (500 μg L−1 or lower), associated with some diseases, need to be determined. The results prove that accurate values with RSD values below 10% can be achieved for these devices even for such Cu levels, while for Capitainer qDBS and, to a higher extent, for Mitra, blank variations will ultimately increase the uncertainty. It is important to stress that analysis of four real samples using both venipuncture and all the DBS specimens showed a very good agreement. Thus, the approach proposed could be readily applied, such that patients with disorders requiring Cu control can prepare their own samples and submit them via postal mail to labs for HR CS GFAAS direct and fast analysis.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Abad-Alvaro, I.; Leite, D.; Bartczak, D.; Cuello-Nunez, S.; Gomez-Gomez, B.; Madrid, Y.; Aramendia, M.; Resano, M.; Goenaga-Infante, H.
En: J. Anal. At. Spectrom., vol. 36, iss. 6, pp. 1180-1192, 2021.
@article{D1JA00068C,
title = {An insight into the determination of size and number concentration of silver nanoparticles in blood using single particle ICP-MS (spICP-MS): feasibility of application to samples relevant to in vivo toxicology studies},
author = {I. Abad-Alvaro and D. Leite and D. Bartczak and S. Cuello-Nunez and B. Gomez-Gomez and Y. Madrid and M. Aramendia and M. Resano and H. Goenaga-Infante},
url = {http://dx.doi.org/10.1039/D1JA00068C},
doi = {10.1039/D1JA00068C},
year = {2021},
date = {2021-01-01},
journal = {J. Anal. At. Spectrom.},
volume = {36},
issue = {6},
pages = {1180-1192},
publisher = {The Royal Society of Chemistry},
abstract = {Toxicological studies concerning nanomaterials in complex biological matrices usually require a carefully designed workflow that involves handling, transportation and preparation of a large number of samples without affecting the nanoparticle (NP) characteristics, as well as measurement methods that enable their reliable characterisation. This work describes method development for the determination of number concentration and size of silver nanoparticles (AgNP) in blood for the purpose of application to the typical workflow of an in vivo toxicology assessment involving blood-containing AgNP and Ag(i) leached out from medical devices. A systematic comparison of single particle detection using millisecond versus microsecond dwell times in the presence of different ionic Ag [Ag(i)]-to-AgNP ratios by spICP-MS was undertaken to achieve sufficient selectivity for the determination of NP number concentration. This was achieved for the first time in a complex media such as 2.5% tetramethylammonium hydroxide (TMAH)/0.1% Triton X-100 (v/v) diluent, which was proven to preserve nanoparticle stability upon 8 days of storage following AgNP quantitative extraction from the blood matrix. The potential of microsecond dwell time for improved discrimination of AgNP (40 nm) from Ag(i) was demonstrated for ionic to nanoparticle ratios [Ag(i)/AgNP] of up to 106-fold. For NP sizing, a systematic study of the impact of matrix-matched ionic calibration on the derived particle size by spICP-MS is also described. Three different ionic calibration media including 1% HNO3 (v/v), 1 mM trisodium citrate and 2.5% TMAH/0.1% Triton X-100 (v/v) were tested. Student t-test evidenced statistically significant differences between the slope of the calibration curve of Ag(i) in TMAH/Triton X-100 compared to HNO3 and trisodium citrate matrices, whereas no significant differences were found between the two latter media. Moreover, a good agreement was found between the particle diameter derived from spICP-MS following ionic calibration in TMAH/Triton X-100 and the diameter obtained with transmission electron microscopy (TEM), demonstrating the importance of matrix-matched calibration for NP size determination in a complex matrix using spICP-MS. Number concentration recovery measurements on blood samples spiked with AgNP and size measurements both using spICP-MS demonstrated the feasibility of the methodology developed here for potential future application to AgNP characterisation in toxicology research.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
García-Poyo, M. Carmen; Bérail, Sylvain; Ronzani, Anne Laure; Rello, Luis; García-González, Elena; Lelièvre, Bénédicte; Cales, Paul; Nakadi, Flavio V.; Aramendía, Maite; Resano, Martín; Pécheyran, Christophe
En: J. Anal. At. Spectrom., vol. 36, iss. 5, pp. 968-980, 2021.
@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}
}
Bolea-Fernandez, Eduardo; Rua-Ibarz, Ana; Resano, Martín; Vanhaecke, Frank
To shift, or not to shift: adequate selection of an internal standard in mass-shift approaches using tandem ICP-mass spectrometry (ICP-MS/MS) Journal Article
En: J. Anal. At. Spectrom., vol. 36, iss. 6, pp. 1135-1149, 2021.
@article{D0JA00438C,
title = {To shift, or not to shift: adequate selection of an internal standard in mass-shift approaches using tandem ICP-mass spectrometry (ICP-MS/MS)},
author = {Eduardo Bolea-Fernandez and Ana Rua-Ibarz and Martín Resano and Frank Vanhaecke},
url = {http://dx.doi.org/10.1039/D0JA00438C},
doi = {10.1039/D0JA00438C},
year = {2021},
date = {2021-01-01},
journal = {J. Anal. At. Spectrom.},
volume = {36},
issue = {6},
pages = {1135-1149},
publisher = {The Royal Society of Chemistry},
abstract = {The use of an internal standard to correct for potential matrix effects and instrument instability is common practice in ICP-MS. However, with the introduction of a new generation of ICP-MS instrumentation with a tandem mass spectrometry configuration (ICP-MS/MS), the use of chemical resolution in a mass-shift approach has become much more popular, suggesting that the appropriate selection of an internal standard needs revision. In this particular case, it needs to be decided whether the internal standard should also be subjected to a mass-shift or can simply be monitored on-mass (“to shift, or not to shift”). In this work, 17 elements covering a wide range of masses (24–205 amu) and ionization energies (3.89–9.39 eV) were measured via on-mass and/or mass-shift strategies, and the corresponding atomic ions and reaction product ions were monitored during various systematic experiments. For mass-shifting, an NH3/He gas mixture was used to obtain NH3-based reaction product ions (cluster formation). Product ion scanning (PIS) was used for assessing the differences in reactivity between the different analytes and for the identification of the best suited reaction product ions. It was found that the use of chemical resolution can significantly affect the short-term signal stability and that ion signals measured on-mass are not affected in the same way as those measured mass-shifted. Variations affecting the signal intensities of both atomic and reaction product ions can be attributed to the ion–molecule chemistry occurring within the collision/reaction cell and were found to be related with some degree of initial instability in the cell and differences in reactivity. The use of a sufficiently long stabilization time, however, avoids or at least mitigates such differences in the behavior between signals monitored on-mass and after mass-shifting, respectively. Furthermore, the introduction of cell disturbances, such as those generated after quickly switching between different sets of operating conditions in a multi-tune method, revealed significant differences in signal behavior between atomic and reaction product ions, potentially hampering the use of an internal standard monitored on-mass when the analysis is based on an analyte monitored after mass-shifting. However, the use of a reasonable waiting time again greatly mitigates such differences, with the duration of this stabilization time depending on the magnitude of the cell disturbances (e.g., switch between vented and pressurized mode or only between pressurized modes using different gas flow rates). In addition, also the effect of varying different instrument settings (plasma power, torch position, and gas and liquid flow rates) was evaluated, but no remarkable differences were found between signals monitored on-mass and those mass-shifted. Interestingly, a statistical evaluation of the influence of the different settings on the signal intensities of all ions monitored did not reveal the a priori important role of some properties traditionally suggested for adequate selection of analyte/internal standard pairs, such as mass number or ionization energy, as also suggested in other recent studies.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Borque-Fernando, A.; Espílez, R.; Miramar, D.; Corbatón, D.; Rodríguez, A.; Castro, E.; Mateo, J.; Rello, L.; Méndez, A.; Sanz, M. J. Gil
Genetic counseling in prostate cancer: How to implement it in daily clinical practice? Journal Article
En: Actas Urológicas Españolas (English Edition), vol. 45, no. 1, pp. 8-20, 2021, ISSN: 2173-5786.
@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}
}
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.
2020
Journal Articles
de Frutos, Laura López; García-González, Elena; García-Rodríguez, Beatriz; González-Irazabal, Yolanda; Lahoz, Carlos; Irún, Pilar; Cebolla, Jorge J; Giraldo, Pilar
Serum protein profile analysis in lysosomal storage disorders patients Journal Article
En: Clin Chim Acta, vol. 510, pp. 430–436, 2020, ISSN: 1873-3492.
@article{pmid32745579,
title = {Serum protein profile analysis in lysosomal storage disorders patients},
author = {Laura López de Frutos and Elena García-González and Beatriz García-Rodríguez and Yolanda González-Irazabal and Carlos Lahoz and Pilar Irún and Jorge J Cebolla and Pilar Giraldo},
doi = {10.1016/j.cca.2020.07.056},
issn = {1873-3492},
year = {2020},
date = {2020-11-01},
journal = {Clin Chim Acta},
volume = {510},
pages = {430--436},
abstract = {INTRODUCTION: Serum protein electrophoresis (SPE) is a well-established technique to identify alterations in plasma protein profiles, caused by diseases as multiple myeloma (MM). In addition, it could be a cost-effective technique to discover new plasma biomarkers. Relation between MM and lysosomal storage diseases (LSDs) as Gaucher disease has been set out but, it has not been evaluated on other LSDs nor the utility of the SPE as first step on LSDs biomarkers discovery projects.
MATERIALS AND METHODS: Stored plasma samples at diagnosis from several LSDs patients underwent analysis. Quality control was checked prior to the SPE was analyzed by capillary electrophoresis. The analysis for monoclonal spikes and the differences between each fraction on patients' samples vs the control data previously published, were evaluated. Furthermore, immunoprotein quantification and free light chains ratio were done by nephelometry and turbidimetry.
RESULTS: Seventy-five samples of LSD patients at diagnosis, were assessed. The frequency of the MGUS on LSDs patients was not higher than in general population whereas one lysosomal acid lipase deficiency infant showed increased IgA and kappa deviation. Regarding to the usefulness of SPE in biomarkers discovery, statistically significant differences were observed on SPE fractions between LSDs and healthy population.
DISCUSSION: The evaluation of SPE fractions can be a useful tool to understand pathophysiologic aspects in LDSs and, to simplify new marker discovery projects. In some of them, the MGUS appearance is a risk factor for the MM development despite its frequency is not increased on the studied LSDs at diagnosis.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
MATERIALS AND METHODS: Stored plasma samples at diagnosis from several LSDs patients underwent analysis. Quality control was checked prior to the SPE was analyzed by capillary electrophoresis. The analysis for monoclonal spikes and the differences between each fraction on patients’ samples vs the control data previously published, were evaluated. Furthermore, immunoprotein quantification and free light chains ratio were done by nephelometry and turbidimetry.
RESULTS: Seventy-five samples of LSD patients at diagnosis, were assessed. The frequency of the MGUS on LSDs patients was not higher than in general population whereas one lysosomal acid lipase deficiency infant showed increased IgA and kappa deviation. Regarding to the usefulness of SPE in biomarkers discovery, statistically significant differences were observed on SPE fractions between LSDs and healthy population.
DISCUSSION: The evaluation of SPE fractions can be a useful tool to understand pathophysiologic aspects in LDSs and, to simplify new marker discovery projects. In some of them, the MGUS appearance is a risk factor for the MM development despite its frequency is not increased on the studied LSDs at diagnosis.
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) Journal Article
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}
}
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.
Resano, Martín; Aramendía, Maite; Nakadi, Flávio V.; García-Ruiz, Esperanza; Alvarez-Llamas, César; Bordel, Nerea; Pisonero, Jorge; Bolea-Fernández, Eduardo; Liu, Tong; Vanhaecke, Frank
Breaking the boundaries in spectrometry. Molecular analysis with atomic spectrometric techniques Journal Article
En: TrAC Trends in Analytical Chemistry, vol. 129, pp. 115955, 2020, ISSN: 0165-9936.
@article{RESANO2020115955,
title = {Breaking the boundaries in spectrometry. Molecular analysis with atomic spectrometric techniques},
author = {Martín Resano and Maite Aramendía and Flávio V. Nakadi and Esperanza García-Ruiz and César Alvarez-Llamas and Nerea Bordel and Jorge Pisonero and Eduardo Bolea-Fernández and Tong Liu and Frank Vanhaecke},
url = {https://www.sciencedirect.com/science/article/pii/S0165993620301849},
doi = {https://doi.org/10.1016/j.trac.2020.115955},
issn = {0165-9936},
year = {2020},
date = {2020-01-01},
journal = {TrAC Trends in Analytical Chemistry},
volume = {129},
pages = {115955},
abstract = {Since the development of atomic spectrometry, trace element and isotopic analysis has been mainly based on the monitoring of atomic spectra and monoionic species. However, according to the literature and considering the current instrumental developments, it seems that some of the remaining challenges in this field can be mitigated via the measurement of molecular spectra or of polyatomic ions. This review discusses recent advances in three of the most important atomic techniques (laser-induced breakdown spectrometry, high-resolution continuum source atomic absorption spectrometry and inductively coupled plasma mass spectrometry) and how the monitoring of such molecules or polyatomic ions containing the target analyte enables attaining better selectivity and opens new ways to determine non-metals and to obtain isotopic information.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}