Laborator Dedicnych Metabolickych Poruch

Olomouc, Czech Republic

Laborator Dedicnych Metabolickych Poruch

Olomouc, Czech Republic
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Friedecky D.,Laborator Dedicnych Metabolickych Poruch | Lemr K.,RCPTM
Klinicka Biochemie a Metabolismus | Year: 2012

The overview is focused on basics of mass spectrometry. Importance and principles of mass spectrometry parts are explained. Different mass spectrometry instruments, which are used for analysis of biological materials, are introduced.


Friedecky D.,Laborator Dedicnych Metabolickych Poruch | Lemr K.,RCPTM
Klinicka Biochemie a Metabolismus | Year: 2012

The overview is focused on qualitative and quantitative parameters of mass spectrometry.


Micova K.,Laborator Dedicnych Metabolickych Poruch | Friedecky D.,Laborator Dedicnych Metabolickych Poruch | Faber E.,Hemato Onkologicka Klinika | Adam T.,Laborator Dedicnych Metabolickych Poruch
Klinicka Biochemie a Metabolismus | Year: 2012

Objective: The aim of the study is monitoring of correlation of imatinib plasma levels with daily dose and sampling time in patients with chronic myeloid leukemia on imatinib therapy. Chronic myeloid leukemia (CML) is myeloproliferative disorder characterized by the presence of chromozome Philadelphia and leukemic fusion gene BCR-ABL leading expression of constitutively active tyrosin kinase responsible for malignant transformation. The most successful treatment was recorded via targeted inhibitors of generated oncoprotein and therefore imatinib is used as a first-line treatment, today. Therapeutic monitoring of imatinib plasma levels in patients with chronic myeloid leukemia is important tool for treatment individualization. Design: Clinical Materials and methods: In our study we have analyzed a group of 1790 samples from 168 patients with CML on imatinib therapy. All measurements were performed by the liquid chromatography coupled with tandem mass spectrometry method within routine monitoring of plasmatic levels of tyrosin kinase inhibitors. Imatinib daily dose vary from 100 to 800 mg and samples were obtained 1 - 120 hours after last drug administration. Results and conclusion: Analysis of the results revealed correlation between imatinib plasma level and daily dose (R2 = 0.075) or with sampling time (R2 = 0.177). From whole data file 616 samples taken 24±4 hours after last drug administration from 111 patients with imatinib daily dose 400 mg were chosen and inter- (48 %) and intraindividual (36 %) variability were determined.


Janeckova H.,Laborator Dedicnych Metabolickych Poruch | Wojtowicz P.,Laborator Dedicnych Metabolickych Poruch | Hron K.,Katedra Matematicke Analyzy A Aplikaci Matematiky | Friedecky D.,Laborator Dedicnych Metabolickych Poruch | Adam T.,Laborator Dedicnych Metabolickych Poruch
Klinicka Biochemie a Metabolismus | Year: 2012

Objective: Metabolomics has become an important tool in clinical research and diagnosis of human diseases. In this work we applied untargeted metabolomic analysis of dry blood spots (DBS) for diagnosing inherited metabolic disorders (IMDs). Design: Clinical application Material and methods: DBS samples were analyzed by high performance liquid chromatography coupled with high-resolution mass spectrometer. Data were processed and statistically evaluated using R software. Results: We compared 20 control samples with three samples from patients with phenylketonuria and three samples from patients with maple syrup urine disease. All patient samples were distinguished from controls based on appropriate markers of the disorders. Conclusion: This study shows that untargeted metabolomics can be applied for diagnosing various IMDs.


Baresova A.,Laborator dedicnych metabolickych poruch | Friedecky D.,Laborator dedicnych metabolickych poruch | Adam T.,Laborator dedicnych metabolickych poruch
Chemicke Listy | Year: 2011

Nucleotides play an important role in human metabolism and their disorders often result in severe health impairment. Separation of major cellular nucleotides from dry blood spots was achieved by capillary electrophoresis. On the basis of incubations of erythrocytes with nucleotides, possible applications of the method in screening tests are proposed. Deproteinated dry blood spot extracts were analysed in a silica capillary using UV detection. The separation buffer was a solution of citric acid and cetyltrimethylammonium bromide, its pH was adjusted to 4.3 with 4-aminobutanoic acid (GABA). The overall nucleotide profile of blood spot extracts is comparable with that of fresh blood, although their contents may slightly change during drying and long-term storage of the spots. The method offers reproducibility within 5 %, accuracy below 14 %, recovery of total adenine nucleotides 89.8±10.5 % and the limit of detection 1.2 μmol L-1 (R2 > 0.99) for uridine triphosphate and inosine monophosphate. Nucleotide profiles simulating disorders of purine metabolism were obtained by incubation of erythrocytes with nucleosides.The use of dry blood spots instead of fresh blood facilitates collection, transport and storage of blood samples and is patient-friendly. This method may be applicable to screening of inherited metabolic disorders.


Wojtowicz P.,Laborator dedicnych metabolickych poruch | Janeckova H.,Laborator dedicnych metabolickych poruch | Friedecky D.,Laborator dedicnych metabolickych poruch | Adam T.,Laborator dedicnych metabolickych poruch
Chemicke Listy | Year: 2013

Global metabolite profiling, often called metabolomics, is an expanding research field. Together with genomics, transcriptomics and proteomics, it provides additional information on specific changes occurring in biological systems, allowing to better understand metabolic pathways and their pathologies. This review highlights the current metabolomic challenges in biomedicinal research using chromatographic and electrophoretic separation techniques coupled mostly with mass spectrometry. The most frequently used procedures for obtaining bioinformation data are introduced as well.

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