BACKGROUND: Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine. METHODS: The procedure allows isolation of urinary sulfatides by solid-phase extraction on DEAE-cellulose membranes, transportation of a dry membrane followed by elution and tandem mass spectrometry (MS/MS) analysis in the clinical laboratory. Major sulfatide isoforms are normalized to the least variable component of the spectrum, which is the indigenous C18:0 isoform. This procedure does not require the use of specific internal standards and minimizes errors caused by sample preparation and measurement. RESULTS: Urinary sulfatides were analyzed in a set of 21 samples from patients affected by sulfatidosis. The combined abundance of the five most elevated isoforms, C22:0, C22:0-OH, C24:0, C24:1-OH, and C24:0-OH sulfatides, was found to give the greatest distinction between MLD-affected patients and a control group. CONCLUSIONS: The method avoids transportation of liquid urine samples and generates stable membrane-bound sulfatide samples that can be stored at ambient temperature. MS/MS sulfatide profiling targeted on the most MLD-representative isoforms is simple with robust results and is suitable for screening.

• Klíčová slova
• ASA, CV, DEAE, DEAE-cellulose membrane, DUS, Diethylaminoethyl, Dry urinary samples, IPN, Isoforms, MLD, MS/MS, PTFE, Psap-d, S/N, SRM, Screening for metachromatic leukodystrophy, Tandem mass spectrometry, Urinary sulfatide, arylsulfatase A, coefficient of variation, dry urinary sample, isoform profile number (ratio of the sum of the major five isoforms and the C18:0 sulfatide), metachromatic leukodystrophy, polytetrafluoroethylene, prosaposin deficiency, selected reaction monitoring, signal to noise ratio, tandem mass spectrometry,
• MeSH
• DEAE-celulosa MeSH
• dítě MeSH
• extrakce na pevné fázi MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• membrány umělé MeSH
• metachromatická leukodystrofie diagnóza   moč   MeSH
• mladiství MeSH
• odběr biologického vzorku normy   MeSH
• předškolní dítě MeSH
• referenční standardy MeSH
• studie případů a kontrol MeSH
• sulfoglykosfingolipidy moč   MeSH
• tandemová hmotnostní spektrometrie MeSH
• vysoušení MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Názvy látek
• DEAE-celulosa MeSH
• membrány umělé MeSH
• sulfoglykosfingolipidy MeSH

The Czech Republic is an iodine-deficient area. Insufficient iodine intake was reduced by enriching cooking salt with iodine in the range 20-34 mg I/kg. An important indicator for tracking changes in iodine nutrition over time is accurate information about urinary iodine concentrations in the population. In this paper we describe and characterize our method used for the determination of iodine in biological material, which is based on alkaline ashing of urine specimens preceding Sandell-Kolthoff reaction using brucine as a colorimetric marker. The losses of radioiodine added during sample preparation have not exceeded 0.001%. The detection limit is 2.6 microg I/L and the limit of quantification is 11.7 microg I/L, with intra-assay precision of 4% and inter-assay precision of 4.9%. During the period 1994-2002, the urinary iodine concentration was determined in 29,612 samples in the Institute of Endocrinology. The mean basal urinary iodine concentrations+/-SD were 115+/-69 microg I/L. Of the samples, 0.7% were in severe (<20 microg I/L), 9.6% in moderate (20-49 microg I/L), 40.1% in mild (50-99 microg I/L), 35.6% in adequate (100-200 microg I/L), and 14.0% in more than adequate (>200 microg I/L) subsets of iodine nutrition. A statistically significant (p<0.00001) difference was found between mean male (127 microg I/L) and female (112 microg I/L) urinary iodine, and an inversely proportional trend also exists in the age-related data.

• MeSH
• dítě MeSH
• dospělí MeSH
• jod nedostatek   moč   MeSH
• kojenec MeSH
• kolorimetrie metody   normy   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• reprodukovatelnost výsledků MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• sexuální faktory MeSH
• spektrální analýza MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• jod MeSH

AIMS: Stress urinary incontinence and pelvic organ prolapse are very common conditions with a proportion of patients requiring implantation of synthetic materials for a durable repair. However increasing numbers of post-surgical complications have been reported related to the use of polypropylene meshes. One hypothesis for the adverse response is poor mechanical matching of the relatively stiff polypropylene mesh particularly as materials in the pelvic floor will need to cope with decades of distension as occurs with increase of intraabdominal pressure on coughing, laughing, or sneezing. METHODS: In this study we have undertaken a very simple fatigue testing regime to compare the mechanical abilities of six materials. Four commercial meshes in clinical use and two novel electrospun materials not yet evaluated in the clinic were assessed using a uniaxial tensile test. This was performed on six samples of each dry material and on another six samples of each material after just 3 days of fatigue conditions using a dynamic bioreactor. RESULTS: The four commercial materials showed permanent mechanical deformation after just 3 days of stretching these materials by 25% elongation on a regular dynamic cycle, whereas the two new materials presented more elastic properties without deformation. CONCLUSIONS: We suggest that a test as simple as this 3-day fatigue testing is sufficient to distinguish between materials which have already been found to cause complications clinically and newer materials yet to be tested clinically which will hopefully prove more mechanically appropriate for implantation in the pelvic floor.

• Klíčová slova
• fatigue test, mechanical failure, pelvic floor repair, polypropylene mesh,
• MeSH
• chirurgické síťky * MeSH
• lidé MeSH
• mechanické jevy MeSH
• pánevní dno chirurgie   MeSH
• pevnost v tahu MeSH
• polypropyleny MeSH
• prolaps pánevních orgánů chirurgie   MeSH
• stresová inkontinence moči chirurgie   MeSH
• testování materiálů * MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• polypropyleny MeSH

Creatinine is the end product of the catabolism of creatine and creatine phosphate. Creatine phosphate serves as a reservoir of high-energy phosphate, especially in skeletal and cardiac muscle. Besides typical known changes in serum and urinary creatinine concentrations, rare cases associated with changes in serum and urinary creatine levels have been described in the literature in humans. These cases are mostly linked to an excessive intake of creatine ethyl ester or creatine monohydrate, often resulting in increased urine creatinine concentrations. In addition, it is known that at such elevated creatinine concentrations, creatinine crystallisation may occur in the urine. Analysis of crystals and urinary concrements, often of heterogenous chemical composition, may provide diagnostic and therapeutic hints to the benefit of the patient. The aim of the present work was to analyze urine crystals of unclear composition with microscopic and spectroscopic techniques. On routine microscopic analysis of urine, a preliminary suspicion of uric acid or creatinine crystals was expressed. The crystals were of a cuboid shape and showed polarization effects in microscopy. The dried urine sample was whitish-orange in colour, odourless and dissolved well in water. Protein concentration in dry weight (DW) urine was about 0.3 mg/mg. The measured zinc content in the studied sample was approximately 660 µg/g DW sample and copper content was approximately 64 µg/g DW sample. A lead signal of around 10 µg/g DW sample was also observed. UV-Vis analysis showed a maximum creatine peak around 220 nm, compatible with the spectrum of creatinine with a maximum peak of 230 nm. Using HPLC technique, an extreme high ratio of creatine to creatinine of about 38 was measured, which led to the conclusion of the occurrence of rare creatine crystals in urine.

• Klíčová slova
• Electrochemistry, FTIR spectroscopy, High-performance liquid chromatography, Polarization microscopy analysis, UV–Vis spectroscopy, Urine analysis,
• MeSH
• kreatin * moč   MeSH
• kreatinin * moč   MeSH
• krystalizace * MeSH
• lidé středního věku MeSH
• lidé MeSH
• spektrofotometrie metody   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• kreatin * MeSH
• kreatinin * MeSH

1. Biochemical markers of kidney damage were examined in 16 female workers chronically exposed to tetrachlorethylene (TCE) in five dry-cleaning shops. The results were compared with those obtained in 13 females non-occupationally exposed to organic solvents. 2. The intensity of exposure was monitored by personal environmental monitoring. The time-weighed average exposure to TCE amounted to 157 mg m-3 (range 9-799 mg m-3). A satisfactory agreement was found between the concentration of TCE in ambient air sampled with the charcoal tube method and with a passive dosimeter. 3. The urinary excretion of lysozyme was increased in the exposed group. No difference was found in the urinary excretion of albumin, beta 2-microglobulin, lactate dehydrogenase, total proteins or glucose. The prevalence of abnormal values of biochemical parameters in the exposed group did not differ from that observed in the control group. No correlation was found between the level of TCE exposure and biochemical parameters. 4. The present study suggests that chronic exposure to TCE does not lead to renal damage.

• MeSH
• časové faktory MeSH
• ledviny účinky léků   patofyziologie   MeSH
• lidé MeSH
• monitorování životního prostředí MeSH
• muramidasa moč   MeSH
• pracovní expozice * MeSH
• tetrachlorethylen otrava   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Názvy látek
• muramidasa MeSH
• tetrachlorethylen MeSH

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit from newborn screening (NBS). The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. Using untargeted metabolomics (reversed-phase UHPLC coupled to an Orbitrap Elite hybrid mass spectrometer) of plasma samples from 5 HMGCLD patients and 19 age-matched controls, we found 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid, together with 3-hydroxyisovalerylcarnitine as the most discriminating metabolites between the groups. In order to evaluate the NBS potential of these metabolites we quantified the most discriminating metabolites from untargeted metabolomics in 23 blood spots from 4 HMGCLD patients and 55 controls by UHPLC tandem mass spectrometry. The results provide a tool for expanded NBS of HMGCLD using tandem mass spectrometry. Selected reaction monitoring transition 262/85 could be used in a first-tier NBS analysis to screen for elevated 3-hydroxyisovalerylcarnitine. In a positive case, a second-tier analysis of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid in a dry blood spot using UHPLC tandem mass spectrometry instruments confirms the diagnosis. In conclusion, we describe the identification of new diagnostic biomarkers for HMGCLD and their application in NBS in dry blood spots. By using second-tier testing, all patients with HMGCLD were unequivocally and correctly diagnosed.

• Klíčová slova
• 3‐hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency, HMG‐CoA lyase, acylcarnitines, biomarkers, metabolomics, newborn screening, organic acids,
• Publikační typ
• časopisecké články MeSH

AIMS: To describe the symptoms and complications of influenza A in seniors in the 2018-2019 influenza season. MATERIAL AND METHODS: A retrospective analysis of data on 84 seniors with laboratory confirmed influenza A between 1 October 2018 and 30 April 2019 who were tested for this infectious disease in the University Hospital Pilsen. RESULTS: Influenza A was diagnosed in 84 seniors during the period under review. The most common symptoms were fever (69 cases; 82.14 %) and cough (60 cases; 71.43 %). These two symptoms combined occurred in more than half of patients over 65 years of age (51 cases; 60.71 %). Other common symptoms included general weakness (58 cases; 69.05 %) and fatigue (57 cases; 67.86 %). The other symptoms occurred in less than half of cases. The most common complication was pneumonia (36 cases; 42.86 %). Bacterial etiology was confirmed in 13 cases and the most commonly occurring pathogens were Klebsiella pneumoniae and Streptococcus pneumoniae. Another common complication of influenza was acute respiratory insufficiency in pneumonia, heart failure or exacerbation of chronic respiratory disease. The mortality rate of seniors in our sample was 17.86 % (15 cases). CONCLUSION: In the senior population, the most common symptoms of influenza are a rapid onset of fever and dry cough. The study has confirmed that the most common complication is pneumonia. Furthermore, exacerbations of various chronic diseases of the cardiovascular and respiratory systems, worsening of chronic renal insufficiency and urinary tract infections were common. The most effective prevention of the development of influenza and its complications is the available quadrivalent vaccine.

• MeSH
• bakteriální pneumonie komplikace   MeSH
• chřipka lidská * komplikace   epidemiologie   MeSH
• horečka MeSH
• lidé MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

The reference material was prepared by freeze-drying pooled urine samples obtained from healthy persons occupationally exposed to styrene. The concentrations of mandelic acid (MA), phenylglyoxylic acid (PGA), and hippuric acid (HA) in urine were determined by three modes of high-performance liquid chromatography (HPLC). For isochronous stability testing the urinary mandelic acid and phenylglyoxylic acid concentrations were followed over a 24-month period for a preliminary batch by use of HPLC. No changes of the concentration values were found. The creatinine concentration was stable for more than five years. Standard Reference Material NIST 914a Creatinine was used for traceability purposes for creatinine. Pure chemicals MA and PGA were used for traceability purposes. Control material ClinChek-Urine Control (Recipe) was analyzed simultaneously. The mean values of MA and PGA compare well with the means and fall within the control range of control samples. Results from homogeneity, stability, and traceability testing were evaluated using the statistical program ANOVA. The certified values and their uncertainties were evaluated from the results of interlaboratory comparisons, and homogeneity and stability tests. The values are unweighed arithmetical averages of accepted results and their uncertainties are combined uncertainties (coverage factor=1).

• MeSH
• dospělí MeSH
• glyoxyláty moč   MeSH
• kreatinin moč   MeSH
• kyseliny mandlové moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• oprávnění k praxi MeSH
• pracovní expozice MeSH
• referenční standardy MeSH
• reprodukovatelnost výsledků MeSH
• styreny metabolismus   MeSH
• vysokoúčinná kapalinová chromatografie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• glyoxyláty MeSH
• kreatinin MeSH
• kyseliny mandlové MeSH
• phenylglyoxylic acid MeSH Prohlížeč
• styreny MeSH

A reference material for the biological monitoring of occupational exposure to toluene, benzene and phenol was prepared. O-cresol and hippuric acid (metabolites of toluene) are used for the biological monitoring of occupational exposure to toluene. Phenol, a metabolite of benzene, is used for the biological monitoring of exposure to benzene, but phenol can of course also be used as an indicator of exposure to phenol as well. The reference material (RM) used for the determination of these metabolites was prepared by freeze-drying pooled urine samples obtained from healthy persons occupationally exposed to toluene and those taking part in an inhalation experiment. Tests for homogeneity and stability were performed by determining urine concentrations of o-cresol, hippuric acid, creatinine and phenol. To investigate the stability of the RM, the urinary concentrations of o-cresol and phenol were monitored for eighteen months using GC and HPLC, while those of hippuric acid and creatinine were followed for five and six years, respectively, using HPLC. Analysis of variance showed that the concentrations did not change. The certified concentration values (and their uncertainties) of the substances in this reference material (phenol concentration c=6.46+/-0.58 mg l(-1); o-cresol concentration c=1.17+/-0.15 mg l(-1); hippuric acid concentration c=1328+/-30 mg l(-1); creatinine concentration c=0.82+/-0.10 g l(-1)) were evaluated via the interactive statistical programme IPECA.

• MeSH
• analýza moči metody   normy   MeSH
• benzen analýza   MeSH
• chemické techniky analytické metody   normy   MeSH
• fenol analýza   MeSH
• hippuráty analýza   MeSH
• kalibrace MeSH
• kreatin moč   MeSH
• kresoly analýza   MeSH
• lidé MeSH
• moč chemie   MeSH
• reprodukovatelnost výsledků MeSH
• toluen moč   MeSH
• vysokoúčinná kapalinová chromatografie metody   MeSH
• zmrazování MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Názvy látek
• 2-cresol MeSH Prohlížeč
• benzen MeSH
• fenol MeSH
• hippuráty MeSH
• hippuric acid MeSH Prohlížeč
• kreatin MeSH
• kresoly MeSH
• toluen MeSH