Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
| العنوان: | Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses |
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| المؤلفون: | Angelika Schoster, Déborah Mathis, Jörn Oliver Sass, Claudia Graubner |
| المساهمون: | University of Zurich, Schoster, Angelika |
| المصدر: | Mathis, Déborah; Sass, Jörn Oliver; Graubner, Claudia; Schoster, Angelika (2021). Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses. Molecular genetics and metabolism reports, 29, p. 100827. Elsevier 10.1016/j.ymgmr.2021.100827 <http://dx.doi.org/10.1016/j.ymgmr.2021.100827Test> Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100827-(2021) Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports 29 (2021) 100827 |
| بيانات النشر: | Elsevier, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Medicine (General), QH301-705.5, Acquired multiple acyl-CoA dehydrogenase deficiency, AC, acylcarnitines, MADD, Multiple acyl-CoA dehydrogenase deficiency, 610 Medicine & health, R5-920, Endocrinology, 1311 Genetics, 1312 Molecular Biology, Genetics, Medicine, ddc:576, Biology (General), Myopathy, Molecular Biology, chemistry.chemical_classification, 630 Agriculture, business.industry, AM, Atypical myopathy, Hypoglycin A, 1310 Endocrinology, DBS, dried blot spots, OA, organic acids, chemistry, 10036 Medical Clinic, Seasonal pasture myopathy, 570 Life sciences, biology, 10090 Equine Department, medicine.symptom, GC–MS, gas chromatography–mass spectrometry, business, Organic acid, Research Paper |
| الوصف: | Background Atypical myopathy (AM), an acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in horses, induce changes in mitochondrial metabolism. Only few veterinary laboratories offer diagnostic testing for this disease. Inborn and acquired MADD exist in humans, therefore determination of organic acids (OA) in urine and acylcarnitines (AC) in blood by assays available in medical laboratories can serve as AM diagnostics. The evolution of OA and AC profiles in surviving horses is unreported. Methods AC profiles using electrospray ionization tandem mass spectrometry (ESI-MS/MS) and OA in urine using gas chromatography mass spectrometry (GC–MS) were determined in dried blot spots (DBS, n = 7) and urine samples (n = 5) of horses with AM (n = 7) at disease presentation and in longitudinal samples from 3/4 survivors and compared to DBS (n = 16) and urine samples (n = 7) from control horses using the Wilcoxon test. Results All short- (C2-C5) and medium-chain (C6-C12) AC in blood differed significantly (p Highlights • Human medical laboratories can be used to diagnose atypical myopathy in horses. • Diagnosis can be achieved by organic acid and acylcarnitine profiling. • Diagnosis can also be achieved in convalescent horses. • Specific metabolites are still evident several days after clinical signs start. • Some metabolites differentiated between survivors and non-survivors. |
| وصف الملف: | Mathis_2021_MGM_Reports_AM_diagnosis_with_human_methods.pdf - application/pdf; application/pdf |
| تدمد: | 2214-4269 |
| DOI: | 10.5167/uzh-211217 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608f5880587b0050230bd71125d2871dTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....608f5880587b0050230bd71125d2871d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22144269 |
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| DOI: | 10.5167/uzh-211217 |