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Prochazkova D.,Masaryk University | Jarkovsky J.,Masaryk University | Hankova Z.,University Hospital Brno | Konecna P.,University Hospital Brno | And 3 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Purpose: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as its associations with B12 vitamin parameters (holotranscobalamin-active vitamin B12, serum folate, total plasma homocysteine, and plasma methylmalonic acid concentration). Patients and methods: The group consisted of 51 PKU (n=29) and HPA (n=22) patients aged 3-48 years (28 children, 23 adults). Results: A significant difference in serum folate levels was discovered between adult HPA patients and PKU patients (p=0.004, Mann-Whitney U-test). A significant difference in plasma homocysteine concentrations within the normal levels (p=0.032, χ2-test) was detected between adult HPA and PKU patients. In the group of adults, we also found significant differences in serum holotranscobalamin concentrations regarding both concentration levels and the proportion of patients with concentrations within the normal levels (p=0.031, Mann-Whitney U-test; p=0.006, χ2-test). Conclusion: We have proven that adult patients with PKU and HPA are at risk of vitamin B12 nutritional deficiency. The most effective parameter for these adults is the monitoring of holotranscobalamin in the serum. © 2015 by De Gruyter. Source

Mikulova V.,Institute of Medical Biochemistry and Laboratory Diagnostics | Cabinakova M.,Charles University | Janatkova I.,Institute of Medical Biochemistry and Laboratory Diagnostics | Mestek O.,Institute of Chemical Technology Prague | And 2 more authors.
Scandinavian Journal of Clinical and Laboratory Investigation | Year: 2014

Introduction. Circulating tumor cells (CTCs) detection prior to and during therapy is considered as an independent and strong prognostic marker. The present study was designed to isolate and characterize CTCs in peripheral blood of an early breast cancer (BC) patient as a biomarker for monitoring treatments efficacy. Materials and methods. In total, 54 early breast cancer patients undergoing neoadjuvant and/or adjuvant chemotherapy regimens were enrolled into a prospective study. CTC detection in blood was performed by AdnaTest BreastCancer™ (AdnaGen AG, Germany), which is based on the detection of EpCAM, HER2 and MUC1 specific transcripts in enriched CTC-lysates. Additionally, cDNA from isolated CTCs and PBMC was used for qPCR gene expression analysis of TOP1, TOP2A, CTSD, ST6, CK19 and reference gene actin. Results. We found that CTCs can be detected in the peripheral blood of approximately 31% of early stage breast cancer patients. The presence of CTCs was detected in 36% ER positive, 32% PR positive and 30% HER2 positive patients. We found no correlation between CTCs and tumor size, tumor grade, histological grade and receptor status. Only 7% of all patients remained CTCs positive after adjuvant therapy. Gene expression analysis revealed a particular heterogeneity of the studied genes. Conclusions. In conclusion, CTC detection may be a promising early marker of disease progression potentially enhancing the difficult therapeutic decisions. Further studies should, however, clearly demonstrate its utility for both the prediction of outcome and monitoring the effect of treatment. © 2014 Informa Healthcare. Source

Fialova L.,Charles University | Bartos A.,Charles University | Bartos A.,University Hospital Kralovske Vinohrady | Svarcova J.,Charles University | And 7 more authors.
Journal of Neuroimmunology | Year: 2013

A release of light neurofilament subunits (NFL) into cerebrospinal fluid (CSF) and serum in multiple sclerosis (MS) may induce an immune response. We examined CSF and serum NFL levels and IgG antibodies against NFL in 19 patients with a clinically isolated syndrome (CIS) early converted into MS, 20 CIS-non-converters, 23 MS patients and 32 controls. CSF NFL levels were significantly higher in all patient groups. The highest CSF or intrathecally (IT) synthesized anti-NFL antibodies and CSF/serum ratios of anti-NFL antibodies were observed in CIS-converters. CSF NFL and CSF or IT anti-NFL antibodies could be surrogate biomarkers of axonal injury in early MS. © 2013 Elsevier B.V. Source

Kvasnicka T.,Institute of Medical Biochemistry and Laboratory Diagnostics | Hajkova J.,Institute of Medical Biochemistry and Laboratory Diagnostics | Bobcikova P.,Institute of Medical Biochemistry and Laboratory Diagnostics | Cverhova V.,Institute of Medical Biochemistry and Laboratory Diagnostics | And 7 more authors.
Physiological Research | Year: 2014

The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G>A was 4.5 % and 1.3 %, respectively. Frequency of 4G PAI-1 allele was 55.5 %. Genotype frequencies were: GG 91.03 %, GA 8.91 %, and AA 0.07 % for FV Leiden; GG 97.45 %, GA 2.49 %, and AA 0.07 % for FII 20210G>A; 4G/4G 30.26 %, 4G/5G 50.56 %, and 5G/5G 19.19 % for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS +141G >A) was 11.3 %, and frequencies of genotypes were as follows: GG 78.36 %, GA 20.66 %, and AA 0.98 %. Frequency of the risk allele T for polymorphism GP6 13254T>C was 87.7 %, and frequencies of genotypes were as follows: TT 77.14 %, TC 21.15 %, and CC 1.70 %. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln) was 65.2 %, and frequencies of genotypes were: CC 12.25 %, CA 45.12 %, and AA 42.63 %. All observed genotypes and alleles frequencies were without gender differences. Their occurrences confirm a relatively high prevalence of hereditary thrombophilia predisposition in the Czech Republic.© 2014 Institute of Physiology v.v.i., Academy of Sciences of the Czech Republic, Prague, Czech Republic. Source

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