BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease resulting from pathogenic variants in the GLA gene coding α-galactosidase A (AGAL) and cleaving terminal alpha-linked galactose. Globotriaosylceramide (Gb3) is the predominantly accumulated sphingolipid. Gb3, deacylated-Gb3 (lysoGb3), and methylated-Gb3 (metGb3) have been suggested as FD biomarkers. MATERIALS AND METHODS: We developed a novel LC-MS/MS method for assessing lysoGb3 levels in plasma and Gb3 and metGb3 in urine and tested 62 FD patients, 34 patients with GLA variants of unknown significance (VUS) and 59 healthy controls. AGAL activity in white blood cells (WBCs) and plasma was evaluated in parallel. RESULTS: In males, lysoGb3 concentrations in plasma separated classic and late-onset FD patients from each other and from individuals carrying GLA VUS and healthy controls. Calculating AGAL activity/plasmatic lysoGb3 ratio allowed to correctly categorize all females with classic and majority of patients with late-onset FD phenotypes. Correlation of AGAL activity in WBCS with lipid biomarkers identified threshold activity values under which the biomarkers' concentrations increase. CONCLUSION: We developed a novel simplified LC-MS/MS method for quantitation of plasma lysoGb3. AGAL activity/plasma lysoGb3 ratio was identified as the best predictor for FD. AGAL activity correlated with plasma lysoGb3 and corresponded to individual FD phenotypes.

• MeSH
• alfa-galaktosidasa genetika   metabolismus   MeSH
• biologické markery krev   MeSH
• chromatografie kapalinová MeSH
• dospělí MeSH
• Fabryho nemoc * krev   diagnóza   moč   MeSH
• fenotyp MeSH
• glykolipidy krev   moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• senioři MeSH
• sfingolipidy * krev   MeSH
• tandemová hmotnostní spektrometrie * MeSH
• trihexosylceramidy metabolismus   krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Systemically administered antibiotics are thought to penetrate the wounds more effectively during negative pressure wound therapy (NPWT).To test this hypothesis total and free antibiotic concentrations were quantified in serum and wound exudate. METHODS: UHPLC-MS/MS methods were developed and validated for the determination of ceftazidime, cefepime, cefotaxime, cefuroxime, cefazolin, meropenem, oxacillin, piperacillin with tazobactam, clindamycin, ciprofloxacin, sulfamethoxazole/trimethoprim (cotrimoxazole), gentamicin, vancomycin, and linezolid. The unbound antibiotic fraction was obtained by ultrafiltration using a Millipore Microcon-30kda Centrifugal Filter Unit. Analysis was performed on a 1.7-μm Acquity UPLC BEH C18 2.1 × 100-mm column with a gradient elution. RESULTS: The validation was performed for serum, exudates and free fractions. For all matrices, requirements were met regarding linearity, precision, accuracy, limit of quantitation, and matrix effect. The coefficient of variation was in the range of 1.2-13.6%.and the recovery 87.6-115.6%, respectively. Among the 29 applications of antibiotics thus far, including vancomycin, clindamycin, ciprofloxacin, oxacillin, cefepime, cefotaxime, cotrimoxazole, and gentamicin, total and free antibiotic concentrations in serum and exudate were correlated. CONCLUSION: This method can accurately quantify the total and free concentrations of 16 antibiotics. Comparison of concentration ratios between serum and exudates allows for monitoring individual antibiotics' penetration capacity in patients receiving NPWT.

• MeSH
• antibakteriální látky MeSH
• cefepim MeSH
• cefotaxim MeSH
• chromatografie kapalinová metody   MeSH
• ciprofloxacin MeSH
• exsudáty a transsudáty MeSH
• gentamiciny MeSH
• infekce v ráně * MeSH
• klindamycin MeSH
• kombinace léků trimethoprim a sulfamethoxazol MeSH
• lidé MeSH
• oxacilin MeSH
• sternotomie MeSH
• tandemová hmotnostní spektrometrie metody   MeSH
• terapie ran pomocí řízeného podtlaku * MeSH
• vankomycin MeSH
• vysokoúčinná kapalinová chromatografie metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Coronavirus disease (COVID-19), which is caused by the SARS-CoV-2 virus, has become a global pandemic. While susceptibility to COVID-19 is subject to several external factors, including hypertension, BMI, and the presence of diabetes, it is also genetically determined to a significant extent. Infectious agents require iron (Fe) for proper functioning. Carriers of mutations resulting in increased iron concentrations are understood to be at increased risk of COVID-19. METHODS: We examined HFE genotypes associated with hereditary haemochromatosis (rs1800562 and rs1799945 SNPs) in 617 COVID-19 patients (166 asymptomatic, 246 symptomatic and 205 hospitalised survivors) and 2 559 population-based controls. RESULTS: We found a higher frequency of the minor allele (Tyr282) of the rs1800562 polymorphism (P < 0.002) in patients compared to controls (8.5 % vs 5.5 %). Non-carriers of the minor allele were protected against SARS-Cov-2 infection (OR, 95 %CI; 0.59, 0.42-0.82). The frequency of minor allele carriers was almost identical across asymptomatic, symptomatic, and hospitalised survivors. The rs1799945 variant did not affect disease severity and its occurrence was almost identical in patients and controls (P between 0.58 and 0.84). CONCLUSIONS: In conclusion, our results indicate that presence of the rs1800562 minor allele, which is associated with hereditary haemochromatosis (thus increased levels of plasma Fe), increases susceptibility to SARS-CoV-2.

• MeSH
• COVID-19 * genetika   MeSH
• hemochromatóza * genetika   epidemiologie   MeSH
• histokompatibilita - antigeny třídy I genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• mutace MeSH
• protein hemochromatózy genetika   MeSH
• SARS-CoV-2 MeSH
• železo MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Point-of-care and bedside tests are analytical devices suitable for a growing role in the current healthcare system and provide the opportunity to achieve an exact diagnosis by an untrained person and in various conditions and sites where it is necessary. Using a digital camera integrated into a well-accessible device like a smartphone brings a new way in which a colorimetric point-of-care diagnostic test can provide unbiased data. This review summarizes basic facts about the colorimetric point-of-care tests, principles of how to use a portable device with a camera in the assay, applications of digital cameras for the current tests, and new devices described in the recent papers. An overview of the recent literature and a discussion of recent developments and future trends are provided.

• MeSH
• chytrý telefon * MeSH
• kolorimetrie MeSH
• lidé MeSH
• point of care testing * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Kynurenine, the first product of tryptophan degradation via the kynurenine pathway, has become one of the most frequently mentioned biomarkers in recent years. Its levels in the body indicate the state of the human physiology. Human serum and plasma are the main matrixes used to evaluate kynurenine levels and liquid chromatography is the dominant technique for its determination. However, their concentrations in blood do not always correspond to the levels in other matrixes obtained from the affected individuals. It is therefore important to decide when it is appropriate to analyse kynurenine in alternative matrices. However, liquid chromatography may not be the best option for the analysis. This review presents alternatives that can be used and summarizes the features that need to be considered prior to kynurenine determination. Possible approaches to kynurenine analysis in a variety of human matrixes, their challenges, and limitations are critically discussed.

• MeSH
• biologické markery MeSH
• chromatografie kapalinová MeSH
• krevní plazma chemie   MeSH
• kynurenin * analýza   metabolismus   MeSH
• lidé MeSH
• tryptofan * metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

• MeSH
• COVID-19 * genetika   komplikace   MeSH
• hemochromatóza * genetika   MeSH
• lidé MeSH
• mutace MeSH
• protein hemochromatózy genetika   MeSH
• SARS-CoV-2 genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• komentáře MeSH
• Geografické názvy
• Česká republika MeSH

The significance of long non-coding RNAs (lncRNAs) in the development and progression of human cancers has attracted increasing attention in recent years of investigations. Having versatile interactions and diverse functions, lncRNAs can act as oncogenes or tumor-suppressors to actively regulate cell proliferation, survival, stemness, drug resistance, invasion and metastasis. LINC00467, an oncogenic member of long intergenic non-coding RNAs, is upregulated in numerous malignancies and its high expression is often related to poor clinicopathological features. LINC00467 facilitates the progression of cancer via sponging tumor-suppressive microRNAs, inhibiting cell death cascade, modulating cell cycle controllers, and regulating signalling pathways including AKT, STAT3, NF-κB and Wnt/β-catenin. A growing number of studies have revealed that LINC00467 may serve as a novel prognostic biomarker and its inhibitory targeting has a valuable therapeutic potential to suppress the malignant phenotypes of cancer cells. In the present review, we discuss the importance of LINC00467 and provide a comprehensive collection of its functions and molecular mechanisms in a variety of cancer types.

• MeSH
• beta-katenin genetika   MeSH
• biologické markery MeSH
• karcinogeneze genetika   MeSH
• lidé MeSH
• mikro RNA * genetika   MeSH
• nádorové buněčné linie MeSH
• nádory * genetika   MeSH
• NF-kappa B MeSH
• onkogeny genetika   MeSH
• proliferace buněk genetika   MeSH
• protoonkogenní proteiny c-akt genetika   MeSH
• regulace genové exprese u nádorů MeSH
• RNA dlouhá nekódující * genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

BACKGROUND: Recommendations on the optimal preservation of 24 h urine for the metabolic work-up in urolithiasis patients are very heterogeneous. In case two such tests with different storage condition recommendations are being analysed, multiple collections would be needed, challenging especially elderly and very young patients. We therefore aimed to evaluate the stability of urine constituents under different storage conditions. MATERIAL AND METHODS: We collected urine samples from ten healthy volunteers and prepared aliquots to be stored either at room temperature or 4 °C. Some aliquots were preserved using hydrochloric acid prior to storage, some thereafter, some using the BD Urine preservation tube and some were not preserved at all. Storage duration was 0, 24, 48 or 72 h. In all samples calcium, magnesium, phosphorus, creatinine, oxalate, citrate and uric acid were measured and compared to the according reference sample. RESULTS: We could not find any significant deviation for any of the analytes and preanalytical treatment conditions compared to the associated reference sample. CONCLUSION: Preservation of 24 h urine for the metabolic evaluation in stone formers might not be necessary for sample storage up to 72 h.

• MeSH
• hořčík MeSH
• koncentrace vodíkových iontů MeSH
• kyselina citronová MeSH
• lidé MeSH
• rizikové faktory MeSH
• senioři MeSH
• urolitiáza * diagnóza   moč   MeSH
• vápník MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• artefakty * MeSH
• lidé MeSH
• odběr biologického vzorku MeSH
• tělesné tekutiny * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• komentáře MeSH

The ISO 15189:2012 standard section 5.9.1 requires laboratories to review results before release, considering quality control, previous results, and clinical information, if any, and to issue documented procedures about it. While laboratory result reporting is generally regarded as part of the post-analytical phase, the result release process requires a general view of the total examination process. Reviewing test results may follow with troubleshooting and test repetition, including reanalyzing an individual sample or resampling. A systematic understanding of the result release may help laboratory professionals carry out appropriate test repetition and ensure the plausibility of laboratory results. In this paper, we addressed the crucial steps in the result release process, including evaluation of sample quality, critical result notification, result reporting, and recommendations for the management of the result release, considering quality control alerts, instrument flags, warning messages, and interference indexes. Error detection tools and plausibility checks mentioned in the present paper can support the daily practice of results release.

• MeSH
• akreditace * MeSH
• klinické laboratorní techniky MeSH
• laboratoře * MeSH
• lidé MeSH
• řízení kvality MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH