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2. MetSCORE: a molecular metric to evaluate the risk of metabolic syndrome based on serum NMR metabolomics

Author

Gil-Redondo, Rubén, Conde, Ricardo, Bruzzone, Chiara, Seco, Maria Luisa, Bizkarguenaga, Maider, González-Valle, Beatriz, de Diego, Angela, Laín, Ana, Habisch, Hansjörg, Haudum, Christoph, Verheyen, Nicolas, Obermayer-Pietsch, Barbara, Margarita, Sara, Pelusi, Serena, Verde, Ignacio, Oliveira, Nádia, Sousa, Adriana, Zabala-Letona, Amaia, Santos-Martin, Aida, Loizaga-Iriarte, Ana, Unda-Urzaiz, Miguel, Kazenwadel, Jasmin, Berezhnoy, Georgy, Geisler, Tobias, Gawaz, Meinrad, Cannet, Claire, Schäfer, Hartmut, Diercks, Tammo, Trautwein, Christoph, Carracedo, Arkaitz, Madl, Tobias, Valenti, Luca, Spraul, Manfred, Lu, Shelly C., Embade, Nieves, Mato, José M., and Millet, Oscar

Published
2024
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4. Association of adolescent lipoprotein subclass profile with carotid intima-media thickness and comparison to adults: Prospective population-based cohort studies

Author

Staudt, Anna, Bernar, Benoît, Winder, Bernhard, Reiter, Carmen, Burger, Christina, Hochmayr, Christoph, Brössner, Gregor, Stuppner, Hermann, Klingenschmid, Julia, Marxer, Julia, Stock, Katharina, Asare, Mandy, Mayr, Manuel, Bock-Bartl, Manuela, Kothmayer, Martina, Bohl, Maximilian, Pircher, Maximilian, Knoflach, Michael, Gande, Nina, Pechlaner, Raimund, Geiger, Ralf, Sturm, Sonja, Kiechl, Sophia J., Kiechl, Stefan, Heisinger, Tatjana, Kiechl-Kohlendorfer, Ursula, Friedrich, Nele, Bernar, Benoît, Griesmacher, Andrea, Petersmann, Astrid, Budde, Kathrin, Dörr, Marcus, Schminke, Ulf, Cannet, Claire, Fang, Fang, Schäfer, Hartmut, Spraul, Manfred, and Nauck, Matthias

Published
2022
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5. NMR spectroscopy of wastewater: A review, case study, and future potential

Author

Anaraki, Maryam Tabatabaei, Lysak, Daniel H., Downey, Katelyn, Kock, Flávio Vinicius Crizóstomo, You, Xiang, Majumdar, Rudraksha D., Barison, Andersson, Lião, Luciano Morais, Ferreira, Antonio Gilberto, Decker, Venita, Goerling, Benjamin, Spraul, Manfred, Godejohann, Markus, Helm, Paul A., Kleywegt, Sonya, Jobst, Karl, Soong, Ronald, Simpson, Myrna J., and Simpson, Andre J.

Published
2021
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6. A molecular signature for the metabolic syndrome by urine metabolomics

Author

Bruzzone, Chiara, Gil-Redondo, Rubén, Seco, Marisa, Barragán, Rocío, de la Cruz, Laura, Cannet, Claire, Schäfer, Hartmut, Fang, Fang, Diercks, Tammo, Bizkarguenaga, Maider, González-Valle, Beatriz, Laín, Ana, Sanz-Parra, Arantza, Coltell, Oscar, de Letona, Ander López, Spraul, Manfred, Lu, Shelly C., Buguianesi, Elisabetta, Embade, Nieves, Anstee, Quentin M., Corella, Dolores, Mato, José M., and Millet, Oscar

Published
2021
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7. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Author

Saffari, Afshin, Cannet, Claire, Blaschek, Astrid, Hahn, Andreas, Hoffmann, Georg F., Johannsen, Jessika, Kirsten, Romy, Kockaya, Musa, Kölker, Stefan, Müller-Felber, Wolfgang, Roos, Andreas, Schäfer, Hartmut, Schara, Ulrike, Spraul, Manfred, Trefz, Friedrich K., Vill, Katharina, Wick, Wolfgang, Weiler, Markus, Okun, Jürgen G., and Ziegler, Andreas

Published
2021
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8. Integrative Plasma Metabolic and Lipidomic Modelling of SARS-CoV-2 Infection in Relation to Clinical Severity and Early Mortality Prediction

Author

Lodge, Samantha, primary, Lawler, Nathan G., additional, Gray, Nicola, additional, Masuda, Reika, additional, Nitschke, Philipp, additional, Whiley, Luke, additional, Bong, Sze-How, additional, Yeap, Bu B., additional, Dwivedi, Girish, additional, Spraul, Manfred, additional, Schaefer, Hartmut, additional, Gil-Redondo, Rubén, additional, Embade, Nieves, additional, Millet, Oscar, additional, Holmes, Elaine, additional, Wist, Julien, additional, and Nicholson, Jeremy K., additional

Published
2023
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9. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

Author

Cannet, Claire, primary, Bayat, Allan, additional, Frauendienst-Egger, Georg, additional, Freisinger, Peter, additional, Spraul, Manfred, additional, Himmelreich, Nastassja, additional, Kockaya, Musa, additional, Ahring, Kirsten, additional, Godejohann, Markus, additional, MacDonald, Anita, additional, and Trefz, Friedrich, additional

Published
2023
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10. Abstract 14477: Adolescent Lipoprotein Subclass Profile: Reference Ranges, Comparison to Adult, and Association With Carotid Intima-media Thickness

Author

Pechlaner, Raimund, Friedrich, Nele, Staudt, Anna, Gande, Nina, Bernar, Benoît, Stock, Katharina, Kiechl, Sophia J, Hochmayr, Christoph, Griesmacher, Andrea, Petersmann, Astrid, Budde, Kathrin, Stuppner, Hermann, Sturm, Sonja, Cannet, Claire, Fang, Fang, Schäfer, Hartmut, Spraul, Manfred, Geiger, Ralf, Nauck, Matthias, Kiechl, Stefan, Kiechl-Kohlendorfer, Ursula, and Knoflach, Michael

Published
2020
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12. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Author

Cannet, Claire, Pilotto, Andrea, Rocha, Júlio César, Schäfer, Hartmut, Spraul, Manfred, Berg, Daniela, Nawroth, Peter, Kasperk, Christian, Gramer, Gwendolyn, Haas, Dorothea, Piel, David, Kölker, Stefan, Hoffmann, Georg, Freisinger, Peter, and Trefz, Friedrich

Published
2020
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13. NMR-based newborn urine screening for optimized detection of inherited errors of metabolism

Author

Embade, Nieves, Cannet, Claire, Diercks, Tammo, Gil-Redondo, Rubén, Bruzzone, Chiara, Ansó, Sara, Echevarría, Lourdes Román, Ayucar, M. Mercedes Martinez, Collazos, Laura, Lodoso, Blanca, Guerra, Eneritz, Elorriaga, Izaskun Asla, Kortajarena, Miguel Ángel, Legorburu, Alberto Pérez, Fang, Fang, Astigarraga, Itziar, Schäfer, Hartmut, Spraul, Manfred, and Millet, Oscar

Published
2019
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14. Integrative Metabolic, Lipidomic and Lipoproteomic Modelling of SARS-CoV-2 Infections in Relation to Clinical Severity and Early Mortality Prediction

Author

Lodge, Samantha, Lawler, Nathan, Gray, Nicola, Masuda, Reika, Nitschke, Philipp, Whiley, Luke, Sze-How Bong, Yeap, Bu B., Girish Dwivedi, Spraul, Manfred, Schaefer, Hartmut, Gil-Redondo, Rubén, Embade, Nieves, Millet, Oscar, Holmes, Elaine, Wist, Julien, and Nicholson, Jeremy K.

Subjects
lipoproteins, NMR spectroscopy, metabolic phenotyping, SARS-CoV-2, COVID-19, plasma IVDr, lipidomics, diagnostic modelling, patient stratification, mortality prediction, metabolomics, mass spectrometry
Abstract

An integrative multi-modal metabolic phenotyping model was developed to assess the systemic plasma sequelae of SARS-CoV-2 (rRT-PCR positive) induced COVID-19 disease in patients with different respiratory severity levels. Plasma samples from 306 unvaccinated COVID-19 patients were collected in 2020 and classified into four levels of severity ranging from mild symptoms to severe ventilated cases. These samples were investigated using a combination of quantitative Nuclear Magnetic Resonance (NMR) spectroscopy and Mass Spectrometry (MS) platforms to give broad lipoprotein, lipidomic and amino acid, tryptophan-kynurenine pathway and biogenic amine pathway coverage. All platforms revealed highly significant differences in metabolite patterns between patients and controls (n=89) that had been collected prior to the COVID-19 pandemic. The total number of significant metabolites increased with severity with 344 out of the 1034 quantitative variables being common to all severity classes. Metabolic signatures showed a continuum of changes across the respiratory severity levels with the most significant and extensive changes being in the most severely affected patients. Even mildly affected respiratory patients showed multiple highly significant abnormal biochemical signatures reflecting serious metabolic deficiencies of the type observed in Post acute COVID -19 syndrome patients. The most severe respiratory patients had a high mortality (56.1%) and we found that we could predict mortality in this patient sub-group with high accuracy in some cases up to 61 days prior to death, based on a separate metabolic model, which highlighted a different set of metabolites to those defining the basic disease. Specifically, hexosylceramides (HCER 16:0, HCER 20:0, HCER 24:1, HCER 26:0, HCER 26:1) were markedly elevated in the non-surviving patient group (Cliff’s delta 0.91-0.95) and two phosphoethanolamines (PE.O 18:0/18:1, Cliff’s delta=-0.98 and PE.P 16:0/18:1, Cliff’s delta=-0.93) were markedly lower in the non-survivors. These results indicate that patient morbidity to mortality trajectories are determined relatively soon after infection, opening the opportunity to select more intensive therapeutic interventions to these “high risk” patients in the early disease stages.&nbsp

Published
2023
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15. MetSCORE: A Molecular Metric to Evaluate the Risk of Metabolic Syndrome Based on Serum NMR Metabolomics

Author

Gil-Redondo, Rubén, primary, Conde, Ricardo, additional, Bruzzone, Chiara, additional, Seco, Marisa, additional, Bizkarguenaga, Maider, additional, González-Valle, Beatriz, additional, de Diego, Angela, additional, Laín, Ana, additional, Habisch, Hansjörg, additional, Haudum, Christoph, additional, Verheyen, Nicolas, additional, Obermayer-Pietsch, Barbara, additional, Margarita, Sara, additional, Pelusi, Serena, additional, Verde, Ignacio, additional, Oliveira, Nádia, additional, Sousa, Adriana, additional, Zabala-Letona, Amaia, additional, Santos-Martin, Aida, additional, Loizaga-Iriarte, Ana, additional, Unda-Urzaiz, Miguel, additional, Kazenwadel, Jasmin, additional, Bereznoy, Georgy, additional, Geisler, Tobias, additional, Gawaz, Meinrad, additional, Cannet, Claire, additional, Schäfer, Hartmut, additional, Diercks, Tammo, additional, Trautwein, Christoph, additional, Carracedo, Arkaitz, additional, Madl, Tobias, additional, Valenti, Luca, additional, Spraul, Manfred, additional, Lu, Shelly C., additional, Embade, Nieves, additional, Mato, José M., additional, and Millet, Oscar, additional

Published
2023
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16. Quantitative Serum NMR Spectroscopy Stratifies COVID-19 Patients and Sheds Light on Interfaces of Host Metabolism and the Immune Response with Cytokines and Clinical Parameters

Author

Rössler, Titus, primary, Berezhnoy, Georgy, additional, Singh, Yogesh, additional, Cannet, Claire, additional, Reinsperger, Tony, additional, Schäfer, Hartmut, additional, Spraul, Manfred, additional, Kneilling, Manfred, additional, Merle, Uta, additional, and Trautwein, Christoph, additional

Published
2022
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17. An NMR-Based Model to Investigate the Metabolic Phenoreversion of COVID-19 Patients throughout a Longitudinal Study

Author

Gil-Redondo, Rubén, primary, Conde, Ricardo, additional, Bizkarguenaga, Maider, additional, Bruzzone, Chiara, additional, Laín, Ana, additional, González-Valle, Beatriz, additional, Iriberri, Milagros, additional, Ramos-Acosta, Carlos, additional, Anguita, Eduardo, additional, Arriaga Lariz, Juan Ignacio, additional, España Yandiola, Pedro Pablo, additional, Moran, Miguel Ángel, additional, Jiménez-Mercado, Mario Ernesto, additional, Egia-Mendikute, Leire, additional, Seco, María Luisa, additional, Schäfer, Hartmut, additional, Cannet, Claire, additional, Spraul, Manfred, additional, Palazón, Asís, additional, Embade, Nieves, additional, Lu, Shelly C., additional, Wist, Julien, additional, Nicholson, Jeremy K., additional, Mato, José M., additional, and Millet, Oscar, additional

Published
2022
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19. NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates

Author

Aygen, Sitke, Dürr, Ulrich, Hegele, Peter, Kunig, Johannes, Spraul, Manfred, Schäfer, Hartmut, Krings, David, Cannet, Claire, Fang, Fang, Schütz, Birk, Bülbül, Selda F. H., Aydin, H. Ibrahim, Sarıcı, S. Ümit, Yalaz, Mehmet, Örs, Rahmi, Atalan, Resit, Tuncer, Oğuz, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2014
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20. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1 H-NMR Analysis.

Author

Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, and Trefz, Friedrich

Subjects
PHENYLKETONURIA, PROTON magnetic resonance, METABOLOMICS, NAD (Coenzyme), PHENOTYPES, OCHRATOXINS, PHENYLALANINE
Abstract

Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase gene. Depending on the severity of the genetic mutation, medical treatment, and patient dietary management, elevated phenylalanine (Phe) may occur in blood and brain tissues. Research has recently shown that high Phe not only impacts the central nervous system, but also other organ systems (e.g., heart and microbiome). This study used ex vivo proton nuclear magnetic resonance (1H-NMR) analysis of urine samples from PKU patients (mean 14.9 ± 9.2 years, n = 51) to identify the impact of elevated blood Phe and PKU treatment on metabolic profiles. Our results found that 24 out of 98 urinary metabolites showed a significant difference (p < 0.05) for PKU patients compared to age-matched healthy controls (n = 51) based on an analysis of urinary metabolome. These altered urinary metabolites were related to Phe metabolism, dysbiosis, creatine synthesis or intake, the tricarboxylic acid (TCA) cycle, end products of nicotinamide-adenine dinucleotide degradation, and metabolites associated with a low Phe diet. There was an excellent correlation between the metabolome and genotype of PKU patients and healthy controls of 96.7% in a confusion matrix model. Metabolomic investigations may contribute to a better understanding of PKU pathophysiology. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Ex vivo proton spectroscopy ( 1 H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

Author

Cannet, Claire, primary, Frauendienst‐Egger, Georg, additional, Freisinger, Peter, additional, Götz, Hermann, additional, Götz, Madalina, additional, Himmelreich, Nastassja, additional, Kock, Vanessa, additional, Spraul, Manfred, additional, Bus, Christine, additional, Biskup, Saskia, additional, and Trefz, Friedrich, additional

Published
2022
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23. Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses.

Author

Cannet, Claire, Frauendienst‐Egger, Georg, Freisinger, Peter, Götz, Hermann, Götz, Madalina, Himmelreich, Nastassja, Kock, Vanessa, Spraul, Manfred, Bus, Christine, Biskup, Saskia, and Trefz, Friedrich

Subjects
INBORN errors of metabolism, LIQUID chromatography-mass spectrometry, LYSOSOMAL storage diseases, HIGH performance liquid chromatography, METABOLIC disorders, GLYCOGEN storage disease type II, CONGENITAL hypothyroidism
Abstract

There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical symptoms or metabolic findings. The main biological fluids used are urine, plasma and, in special situations, cerebrospinal fluid. In contrast to commonly used methods such as gas chromatography and high performance liquid chromatography mass spectrometry, ex vivo proton spectroscopy (1H‐NMR) is not yet used in routine clinical practice, although it has been recommended for more than 30 years. Automatic analysis and improved NMR technology have also expanded the applications used for the diagnosis of inborn errors of metabolism. We provide a mini‐overview of typical applications, especially in urine but also in plasma, used to diagnose common but also rare genetic metabolic diseases with 1H‐NMR. The use of computer‐assisted diagnostic suggestions can facilitate interpretation of the profiles. In a proof of principle, to date, 182 reports of 59 different diseases and 500 reports of healthy children are stored. The percentage of correct automatic diagnoses was 74%. Using the same 1H‐NMR profile‐targeted analysis, it is possible to apply an untargeted approach that distinguishes profile differences from healthy individuals. Thus, additional conditions such as lysosomal storage diseases or drug interferences are detectable. Furthermore, because 1H‐NMR is highly reproducible and can detect a variety of different substance categories, the metabolomic approach is suitable for monitoring patient treatment and revealing additional factors such as nutrition and microbiome metabolism. Besides the progress in analytical techniques, a multiomics approach is most effective to combine metabolomics with, for example, whole exome sequencing, to also diagnose patients with nondetectable metabolic abnormalities in biological fluids. In this mini review we also provide our own data to demonstrate the role of NMR in a multiomics platform in the field of inborn errors of metabolism. [ABSTRACT FROM AUTHOR]

Published
2023
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26. Exploration of Human Serum Lipoprotein Supramolecular Phospholipids Using Statistical Heterospectroscopy in n-Dimensions (SHY-n): Identification of Potential Cardiovascular Risk Biomarkers Related to SARS-CoV-2 Infection

Author

Masuda, Reika, primary, Lodge, Samantha, additional, Whiley, Luke, additional, Gray, Nicola, additional, Lawler, Nathan, additional, Nitschke, Philipp, additional, Bong, Sze-How, additional, Kimhofer, Torben, additional, Loo, Ruey Leng, additional, Boughton, Berin, additional, Zeng, Annie X., additional, Hall, Drew, additional, Schaefer, Hartmut, additional, Spraul, Manfred, additional, Dwivedi, Girish, additional, Yeap, Bu B., additional, Diercks, Tammo, additional, Bernardo-Seisdedos, Ganeko, additional, Mato, José M., additional, Lindon, John C., additional, Holmes, Elaine, additional, Millet, Oscar, additional, Wist, Julien, additional, and Nicholson, Jeremy K., additional

Published
2022
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28. Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR ‐based urinary metabolomics

Author

Laugwitz, Lucia, primary, Zizmare, Laimdota, additional, Santhanakumaran, Vidiyaah, additional, Cannet, Claire, additional, Böhringer, Judith, additional, Okun, Jürgen G., additional, Spraul, Manfred, additional, Krägeloh‐Mann, Ingeborg, additional, Groeschel, Samuel, additional, and Trautwein, Christoph, additional

Published
2022
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29. J-Edited DIffusional Proton Nuclear Magnetic Resonance Spectroscopic Measurement of Glycoprotein and Supramolecular Phospholipid Biomarkers of Inflammation in Human Serum

Author

Nitschke, Philipp, primary, Lodge, Samantha, additional, Kimhofer, Torben, additional, Masuda, Reika, additional, Bong, Sze-How, additional, Hall, Drew, additional, Schäfer, Hartmut, additional, Spraul, Manfred, additional, Pompe, Nils, additional, Diercks, Tammo, additional, Bernardo-Seisdedos, Ganeko, additional, Mato, José M., additional, Millet, Oscar, additional, Susic, Daniella, additional, Henry, Amanda, additional, El-Omar, Emad M, additional, Holmes, Elaine, additional, Lindon, John C., additional, Nicholson, Jeremy K., additional, and Wist, Julien, additional

Published
2022
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30. Association of adolescent lipoprotein subclass profile with carotid intima-media thickness and comparison to adults: Prospective population-based cohort studies

Author

Pechlaner, Raimund, primary, Friedrich, Nele, additional, Staudt, Anna, additional, Gande, Nina, additional, Bernar, Benoît, additional, Stock, Katharina, additional, Kiechl, Sophia J., additional, Hochmayr, Christoph, additional, Griesmacher, Andrea, additional, Petersmann, Astrid, additional, Budde, Kathrin, additional, Stuppner, Hermann, additional, Sturm, Sonja, additional, Dörr, Marcus, additional, Schminke, Ulf, additional, Cannet, Claire, additional, Fang, Fang, additional, Schäfer, Hartmut, additional, Spraul, Manfred, additional, Geiger, Ralf, additional, Mayr, Manuel, additional, Nauck, Matthias, additional, Kiechl, Stefan, additional, Kiechl-Kohlendorfer, Ursula, additional, Knoflach, Michael, additional, Bernar, Benoît, additional, Winder, Bernhard, additional, Reiter, Carmen, additional, Burger, Christina, additional, Brössner, Gregor, additional, Klingenschmid, Julia, additional, Marxer, Julia, additional, Asare, Mandy, additional, Bock-Bartl, Manuela, additional, Kothmayer, Martina, additional, Bohl, Maximilian, additional, Pircher, Maximilian, additional, Pechlaner, Raimund, additional, and Heisinger, Tatjana, additional

Published
2022
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36. Microesr to Check the Peroxide Value in Virgin Olive Oils

Author

Enrico Valli, Spraul Manfred, Matilde Tura, Barr David, Haber Agnes, Mara Mandrioli, Alessandra Bendini, Tullia Gallina Toschi, and Matilde Tura, Mara Mandrioli, Enrico Valli, David Barr, Manfred Spraul, Agnes Haber, Alessandra Bendini, Tullia Gallina Toschi

Subjects
virgin olive oil, oxidation, Chemistry, law, electron spin resonance, free radicals, Peroxide value, peroxide value, Electron paramagnetic resonance, Nuclear chemistry, law.invention
Published
2021

37. Integrative Modeling of Plasma Metabolic and Lipoprotein Biomarkers of SARS-CoV-2 Infection in Spanish and Australian COVID-19 Patient Cohorts

Author

Masuda, Reika, primary, Lodge, Samantha, additional, Nitschke, Philipp, additional, Spraul, Manfred, additional, Schaefer, Hartmut, additional, Bong, Sze-How, additional, Kimhofer, Torben, additional, Hall, Drew, additional, Loo, Ruey Leng, additional, Bizkarguenaga, Maider, additional, Bruzzone, Chiara, additional, Gil-Redondo, Rubén, additional, Embade, Nieves, additional, Mato, José M., additional, Holmes, Elaine, additional, Wist, Julien, additional, Millet, Oscar, additional, and Nicholson, Jeremy K., additional

Published
2021
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38. A molecular signature for the Metabolic Syndrome by urine metabolomics

Author

Bruzzone, Chiara, primary, Gil-Redondo, Rubén, additional, Seco, Marisa, additional, Barragán, Rocío, additional, Cruz, Laura de la, additional, Cannet, Claire, additional, Schäfer, Hartmut, additional, Fang, Fang, additional, Diercks, Tammo, additional, Bizkarguenaga, Maider, additional, González-Valle, Beatriz, additional, Laín, Ana, additional, Sanz-Parra, Arantza, additional, Coltell, Oscar, additional, de Letona, Ander López, additional, Spraul, Manfred, additional, Lu, Shelly C, additional, Buguianesi, Elisabetta, additional, Embade, Nieves, additional, Anstee, Quentin M, additional, Corella, Dolores, additional, Mato, José M, additional, and Millet, Oscar, additional

Published
2021
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39. ¹H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Author

Saffari, Afshin, Cannet, Claire, Blaschek, Astrid, Hahn, Andreas, Hoffmann, Georg F., Johannsen, Jessika, Kirsten, Romy, Kockaya, Musa, Kölker, Stefan, Müller-Felber, Wolfgang, Roos, Andreas, Schäfer, Hartmut, Schara, Ulrike, Spraul, Manfred, Trefz, Friedrich K., Vill, Katharina, Wick, Wolfgang, Weiler, Markus, Okun, Jürgen G., and Ziegler, Andreas

Subjects
Medizin
Abstract

Background: 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with a positive newborn screening result for SMA imprecise and difficult. Therapeutic decisions and stratification of individualized therapies remain challenging, especially in symptomatic children. The aim of this proof-of-concept and feasibility study was to explore the value of ¹H-nuclear magnetic resonance (NMR)-based metabolic profiling in identifying non-invasive diagnostic and prognostic urinary fingerprints in children and adolescents with SMA. Results: Urine samples were collected from 29 treatment-naïve SMA patients (5 pre-symptomatic, 9 SMA 1, 8 SMA 2, 7 SMA 3), 18 patients with Duchenne muscular dystrophy (DMD) and 444 healthy controls. Using machine-learning algorithms, we propose a set of prediction models built on urinary fingerprints that showed potential diagnostic value in discriminating SMA patients from controls and DMD, as well as predictive properties in separating between SMA types, allowing predictions about phenotypic severity. Interestingly, preliminary results of the prediction models suggest additional value in determining biochemical onset of disease in pre-symptomatic infants with SMA identified by genetic newborn screening and furthermore as potential therapeutic monitoring tool. Conclusions: This study provides preliminary evidence for the use of ¹H-NMR-based urinary metabolic profiling as diagnostic and prognostic biomarker in spinal muscular atrophy. CA extern

Published
2021

40. Additional file 1 of A molecular signature for the metabolic syndrome by urine metabolomics

Author

Bruzzone, Chiara, Gil-Redondo, Rubén, Seco, Marisa, Barragán, Rocío, de la Cruz, Laura, Cannet, Claire, Schäfer, Hartmut, Fang, Fang, Diercks, Tammo, Bizkarguenaga, Maider, González-Valle, Beatriz, Laín, Ana, Sanz-Parra, Arantza, Coltell, Oscar, de Letona, Ander López, Spraul, Manfred, Lu, Shelly C., Buguianesi, Elisabetta, Embade, Nieves, Anstee, Quentin M., Corella, Dolores, Mato, José M., and Millet, Oscar

Subjects
Data_FILES
Abstract

Additional file 1. Additional Tables and Figures.

Published
2021
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41. Incomplete Systemic Recovery and Metabolic Phenoreversion in Post-Acute-Phase Nonhospitalized COVID-19 Patients: Implications for Assessment of Post-Acute COVID-19 Syndrome

Author

Holmes, Elaine, primary, Wist, Julien, additional, Masuda, Reika, additional, Lodge, Samantha, additional, Nitschke, Philipp, additional, Kimhofer, Torben, additional, Loo, Ruey Leng, additional, Begum, Sofina, additional, Boughton, Berin, additional, Yang, Rongchang, additional, Morillon, Aude-Claire, additional, Chin, Sung-Tong, additional, Hall, Drew, additional, Ryan, Monique, additional, Bong, Sze-How, additional, Gay, Melvin, additional, Edgar, Dale W., additional, Lindon, John C., additional, Richards, Toby, additional, Yeap, Bu B., additional, Pettersson, Sven, additional, Spraul, Manfred, additional, Schaefer, Hartmut, additional, Lawler, Nathan G., additional, Gray, Nicola, additional, Whiley, Luke, additional, and Nicholson, Jeremy K., additional

Published
2021
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44. Diffusion and Relaxation Edited Proton NMR Spectroscopy of Plasma Reveals a High-Fidelity Supramolecular Biomarker Signature of SARS-CoV-2 Infection

Author

Lodge, Samantha, primary, Nitschke, Philipp, additional, Kimhofer, Torben, additional, Wist, Julien, additional, Bong, Sze-How, additional, Loo, Ruey Leng, additional, Masuda, Reika, additional, Begum, Sofina, additional, Richards, Toby, additional, Lindon, John C., additional, Bermel, Wolfgang, additional, Reinsperger, Tony, additional, Schaefer, Hartmut, additional, Spraul, Manfred, additional, Holmes, Elaine, additional, and Nicholson, Jeremy K., additional

Published
2021
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45. Low Volume in Vitro Diagnostic Proton NMR Spectroscopy of Human Blood Plasma for Lipoprotein and Metabolite Analysis: Application to SARS-CoV-2 Biomarkers

Author

Lodge, Samantha, primary, Nitschke, Philipp, additional, Loo, Ruey Leng, additional, Kimhofer, Torben, additional, Bong, Sze-How, additional, Richards, Toby, additional, Begum, Sofina, additional, Spraul, Manfred, additional, Schaefer, Hartmut, additional, Lindon, John C., additional, Holmes, Elaine, additional, and Nicholson, Jeremy K., additional

Published
2021
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46. NMR Spectroscopic Windows on the Systemic Effects of SARS-CoV-2 Infection on Plasma Lipoproteins and Metabolites in Relation to Circulating Cytokines

Author

Lodge, Samantha, primary, Nitschke, Philipp, additional, Kimhofer, Torben, additional, Coudert, Jerome D., additional, Begum, Sofina, additional, Bong, Sze-How, additional, Richards, Toby, additional, Edgar, Dale, additional, Raby, Edward, additional, Spraul, Manfred, additional, Schaefer, Hartmut, additional, Lindon, John C., additional, Loo, Ruey Leng, additional, Holmes, Elaine, additional, and Nicholson, Jeremy K., additional

Published
2021
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47. Metabolite profiling of human amniotic fluid by hyphenated nuclear magnetic resonance spectroscopy

Author

Graca, Goncalo, Duarte, Iola F., Goodfellow, Brian J., Carreira, Isabel M., Couceiro, Ana Bela, Domingues, Maria do Rosario, Spraul, Manfred, Tseng, Li-Hong, and Gil, Ana M.

Subjects
Nuclear magnetic resonance spectroscopy -- Methods, Metabolites -- Properties, Amniotic fluid -- Properties, Diagnosis -- Methods, Chemistry
Abstract

The metabolic profiling of human amniotic fluid (HAF) is of potential interest for the diagnosis of disorders in the mother or the fetus. In order to build a comprehensive metabolite database for HAF, hyphenated NMR has been used, for the first time, for systematic HAF profiling. Experiments were carried out using reverse-phase (RP) and ion-exchange liquid chromatography (LC), in order to detect less and more polar compounds, respectively. RP-LC conditions achieved good separation of amino acids, some sugars, and xanthines. Subsequent NMR and MS analysis enabled the rapid identification of 30 compounds, including 3-methyl-2-oxovalerate and 4-aminohippurate identified in HAF for the first time, to our knowledge. Under ion-exchange LC conditions, a different set of 30 compounds was detected, including sugars, organic acids, several derivatives of organic acids, and amino acids. In this experiment, five compounds were identified for the first time in HAF: o-xylitol, amino acid derivatives (N-acetylalanine, N-acetylglycine, 2-oxoleucine), and isovalerate. The nonendogenous nature of some metabolites (caffeine, paraxanthine, D-xylitol, sorbitol) is discussed. Hyphenated NMR has allowed the rapid detection of ~60 metabolites in HAF, some of which are not detectable by standard NMR due to low abundance ([micro]M) and signal overlap thus enabling an extended metabolite database to be built for HAF.

Published
2008

48. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls

Author

Cannet, Claire, Pilotto, Andrea, Rocha, Júlio César, Schäfer, Hartmut, Spraul, Manfred, Berg, Daniela, Nawroth, Peter, Kasperk, Christian, Gramer, Gwendolyn, Haas, Dorothea, Piel, David, Kölker, Stefan, Hoffmann, Georg, Freisinger, Peter, Trefz, Friedrich, and NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

Subjects
Treatment, Lipoprotein subclasses, Cholesterol, lipids (amino acids, peptides, and proteins), Genetics(clinical), Pharmacology (medical), Adult pku, Nmr
Abstract

Background: Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor deficits, eczematous rash, autism, seizures, and developmental problems. There is a controversial discussion of whether patients with PKU have an additional risk for atherosclerosis due to interference of Phe with cholesterol synthesis and LDL-cholesterol regulation. Since cholesterol also plays a role in membrane structure and myelination, better insight into the clinical significance of the impact of Phe on lipoprotein metabolism is desirable. In 22 treated PKU patients (mean age 38.7 years) and 14 healthy controls (mean age 35.2 years), we investigated plasma with NMR spectroscopy and quantified 105 lipoprotein parameters (including lipoprotein subclasses) and 24 low molecular weight parameters. Analysis was performed on a 600 MHz Bruker AVANCE IVDr spectrometer as previously described. Results: Concurrent plasma Phe in PKU patients showed a wide range with a mean of 899 μmol/L (50-1318 μmol/L). Total cholesterol and LDL-cholesterol were significantly lower in PKU patients versus controls: 179.4 versus 200.9 mg/dL (p < 0.02) and 79.5 versus 104.1 mg/dL (p < 0.0038), respectively. PKU patients also had lower levels of 22 LDL subclasses with the greatest differences in LDL2 Apo-B, LDL2 Particle Number, LDL2-phospholipids, and LDL2-cholesterol (p < 0.0001). There was a slight negative correlation of total cholesterol and LDL-cholesterol with concurrent Phe level. VLDL5-free cholesterol, VLDL5-cholesterol, VLDL5-phospholipids, and VLDL4-free cholesterol showed a significant (p < 0.05) negative correlation with concurrent Phe level. There was no difference in HDL and their subclasses between PKU patients and controls. Tyrosine, glutamine, and creatinine were significantly lower in PKU patients compared to controls, while citric and glutamic acids were significantly higher. Conclusions: Using NMR spectroscopy, a unique lipoprotein profile in PKU patients can be demonstrated which mimics a non-atherogenic profile as seen in patients treated by statins. publishersversion published

Published
2020

49. Additional file 1 of Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Author

Cannet, Claire, Pilotto, Andrea, Rocha, Júlio, Schäfer, Hartmut, Spraul, Manfred, Berg, Daniela, Nawroth, Peter, Kasperk, Christian, Gramer, Gwendolyn, Haas, Dorothea, Piel, David, Kölker, Stefan, Hoffmann, Georg, Freisinger, Peter, and Trefz, Friedrich

Abstract

Additional file 1: Table S1. Terminology of 117 lipoprotein parameters measured with the lipoprotein distribution (LPD) prediction method. The 105 measured parameters are presented in the first table, while the 12 parameters, which are calculated from the original ones, are presented at the end of the table (From https://pubs.acs.org/doi/abs/10.1021/acs.analchem.8b02412 with changes). Table S2. Results of low molecular weight metabolites in PKU patients and controls: mean, standard deviation and p significance (t-test) are presented in the first table; lipoprotein subclasses (explanation in Table S1) are presented in the second table. Figure S1. Correlation between 2 years mean blood phenylalanine (Phe) level and concurrent Phe level in 7 PKU patients (historical blood Phe levels measured in dried blood by tandem mass spectrometry).

Published
2020
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50. Potential of NMR spectroscopy for the study of human amniotic fluid

Author

Graca, Goncalo, Duarte, Iola F., Goodfellow, Brian J., Barros, Antonio S., Carreira, Isabel M., Couceiro, Ana Bela, Spraul, Manfred, and Gil, Ana M.

Subjects
Tracers (Biology) -- Usage, Nuclear magnetic resonance spectroscopy -- Methods, Amniotic fluid -- Chemical properties, Chemistry
Abstract

1D and 2D 800 MHz high-resolution nuclear magnetic resonance spectroscopy of human amniotic fluid (HAF) enabled the identification of ~50 metabolites. In addition, liquid chromatography-NMR and diffusion ordered spectroscopy (DOSY) allowed signal overlap to be reduced and the characterization of higher molecular weight ([M.sub.w]) components, respectively. Indeed, the DOSY spectrum of a [M.sub.w] > 10 kDa HAF fraction enabled three protein families, differing in average Mw, to be detected and may therefore be of potential value in the study of disorderrelated variations in HAF protein profiles. The effects of freeze-drying, storage at -20 or -70 [degrees]C, and freezethawing cycles on HAF compositional stability were investigated, as well as stability at room temperature (to account for overnight data acquisition runs). These data are the basis for establishing statistically validated correlations between HAF NMR data and any physiological disorders of the fetus/mother. Freeze-drying caused signal loss for urea, ethanol, and compounds resonating at 2.22 and 1.17 ppm. Storage at -70 [degrees]C or lower is recommended since only minor compositional changes were observed, affecting mainly acetate and pyruvate. Freeze-thaw cycles did not cause significant compositional changes, and room-temperature stability studies indicated a 4-5 h maximum period of handling/acquisition time to ensure HAF stability.

Published
2007

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