AIM: To report on patients who underwent surgical treatment of arteriovenous malformations (AVMs) at our institution. METHODS: This retrospective single-center case series enrolled the patients who underwent surgical treatment of pial AVM at the Department of Neurosurgery, University Hospital Brno, between 2005 and 2019. The data are summarized as descriptive statistics presenting basic characteristics in all the patients and in sex or age subgroups. RESULTS: Fifty patients were enrolled. The majority of AVMs were of Spetzler-Martin grade II (n=27; 54%), localized supratentorialy (n=43; 86%), and half of AVMs were ruptured. A total resection was performed in 48 patients (96%), and a good overall outcome was achieved in 44 patients (88%). Surgery-associated morbidity was 2%, and the mortality rate was 0% due to meticulous selection of patients for surgical treatment. CONCLUSION: Microsurgery is an appropriate method of treatment for S-M grade I-III pial AVMs. Microsurgery may be used to treat the majority of small-nidus AVMs with a low mortality and morbidity, when precisely planned and performed by an expert vascular team. The meticulous selection of patients for surgical treatment is crucial.

• MeSH
• intrakraniální arteriovenózní malformace * chirurgie   MeSH
• lidé MeSH
• mikrochirurgie MeSH
• retrospektivní studie MeSH
• terapeutická embolizace * MeSH
• výsledek terapie MeSH
• výzkum MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

AIM: To compare microsurgical technique (mTSS) and endoscopic technique (eTSS) in the treatment of non-functioning pituitary adenomas (NFPAs). METHODS: We retrospectively evaluated the charts of 50 patients who underwent either mTSS or eTSS for NFPA in the Department of Neurosurgery, University Hospital Hradec Kralove from 2013 to 2019. We enrolled all patients who were not treated by postoperative adjuvant radiotherapy and who underwent at least two regular postoperative magnetic resonance imaging (MRI) tests. We compared the groups in terms of the extent of resection, surgery duration, blood loss, complication rate, overall clinical effect on the endocrinological and ophthalmological deficit, and postoperative growth pattern of the residual tumor mass. RESULTS: The mTSS group had significantly shorter surgical time (75 min vs 127 min, P<0.001) and lower perioperative blood loss (156 mL vs 256 mL, P=0.027). The groups did not significantly differ in the extent of resection, overall clinical or hormonal effect, and the complication rate. The extent of resection did not correlate with tumor consistency, while the tumor growth rate did not correlate with age or Ki-67 expression. CONCLUSIONS: There was no major difference between the approaches in surgery radicality or safeness. However, eTSS remains the method of choice due to its potentially higher postoperative preservation of hormonal functions.

• MeSH
• adenom diagnostické zobrazování   patologie   chirurgie   MeSH
• délka operace MeSH
• dospělí MeSH
• endoskopie metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mikrochirurgie metody   MeSH
• nádory hypofýzy diagnostické zobrazování   patologie   chirurgie   MeSH
• následné studie MeSH
• retrospektivní studie MeSH
• senioři MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH

• MeSH
• registrace MeSH
• Publikační typ
• dopisy MeSH
• komentáře MeSH
• Geografické názvy
• Chorvatsko MeSH
• Španělsko MeSH

AIM: A collaborative exercise with several institutes was organized by the Forensic DNA Service (FDNAS) and the Institute of the Legal Medicine, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic, with the aim to test performance of different laboratories carrying out DNA analysis of relatively old bone samples. METHODS: Eighteen laboratories participating in the collaborative exercise were asked to perform DNA typing of two samples of bone powder. Two bone samples provided by the National Museum and the Institute of Archaelogy in Prague, Czech Republic, came from archeological excavations and were estimated to be approximately 150 and 400 years old. The methods of genetic characterization including autosomal, gonosomal, and mitochondrial markers was selected solely at the discretion of the participating laboratory. RESULTS: Although the participating laboratories used different extraction and amplification strategies, concordant results were obtained from the relatively intact 150 years old bone sample. Typing was more problematic with the analysis of the 400 years old bone sample due to poorer quality. CONCLUSION: The laboratories performing identification DNA analysis of bone and teeth samples should regularly test their ability to correctly perform DNA-based identification on bone samples containing degraded DNA and potential inhibitors and demonstrate that risk of contamination is minimized.

• MeSH
• DNA fingerprinting normy   MeSH
• DNA analýza   MeSH
• kosti a kostní tkáň chemie   MeSH
• lidé MeSH
• soudní genetika MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• Geografické názvy
• Česká republika MeSH

AIM: To assess whether B-type natriuretic peptide (BNP) can serve as a predictor of end-stage chronic heart failure (CHF) in patients with severe systolic dysfunction of the systemic right ventricle (SRV). METHODS: We performed a retrospective analysis in 28 patients with severe systolic dysfunction of the SRV (ejection fraction 23 ± 6%) who were evaluated as heart transplant (HTx) candidates between May 2007 and October 2014. The primary endpoints of the study (end-stage CHF) were progressive CHF, urgent HTx, and ventricular assist device (VAD) implantation. Plasma BNP levels were measured using a chemiluminescent immunoassay. RESULTS: During median follow-up of 29 months (interquartile range, 9-50), 3 patients died of progressive CHF, 5 patients required an urgent HTx, and 6 patients underwent VAD implantation. BNP was a strong predictor of end-stage CHF (hazard ratio per 100 ng/L: 1.079, 95% confidence interval, 1.042-1.117, P<0.001). The following variables with corresponding areas under the curve (AUC) were identified as the most significant predictors of end-stage CHF: BNP (AUC 1.00), New York Heart Association functional class class III or IV (AUC 0.98), decompensated CHF in the last year (AUC 0.96), and systolic dysfunction of the subpulmonal ventricle (AUC 0.96). CONCLUSION: BNP is a powerful predictor of end-stage CHF in individuals with systolic dysfunction of the SRV.

• MeSH
• chronická nemoc MeSH
• dospělí MeSH
• dysfunkce pravé srdeční komory patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• natriuretický peptid typu B krev   MeSH
• podpůrné srdeční systémy MeSH
• prognóza MeSH
• proporcionální rizikové modely MeSH
• retrospektivní studie MeSH
• senioři MeSH
• srdeční selhání patofyziologie   chirurgie   MeSH
• stupeň závažnosti nemoci MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIM: To determine cytotoxicity and effect of silica-coated magnetic nanoparticles (MNPs) on immune response, in particular lymphocyte proliferative activity, phagocytic activity, and leukocyte respiratory burst and in vitro production of interleukin-6 (IL-6) and 8 (IL-8), interferon-gamma (IFN-γ), tumor necrosis factor-alpha (TNF-α), and granulocyte macrophage colony stimulating factor (GM-CSF). METHODS: Maghemite was prepared by coprecipitation of iron salts with ammonia, oxidation with NaOCl and modified by tetramethyl orthosilicate and aminosilanes. Particles were characterized by transmission electron microscopy (TEM), dynamic light scattering (DLS), Fourier-transform infrared (FTIR), and X-ray photoelectron spectroscopy (XPS). Cytotoxicity and lymphocyte proliferative activity were assessed using [3H]-thymidine incorporation into DNA of proliferating human peripheral blood cells. Phagocytic activity and leukocyte respiratory burst were measured by flow cytometry; cytokine levels in cell supernatants were determined by ELISA. RESULTS: γ-Fe2O3&SiO2-NH2 MNPs were 13 nm in size. According to TEM, they were localized in the cell cytoplasm and extracellular space. Neither cytotoxic effect nor significant differences in T-lymphocyte and T-dependent B-cell proliferative response were found at particle concentrations 0.12-75 μg/cm2 after 24, 48, and 72 h incubation. Significantly increased production of IL-6 and 8, and GM-CSF cytokines was observed in the cells treated with 3, 15, and 75 µg of particles/cm2 for 48 h and stimulated with pokeweed mitogen (PHA). No significant changes in TNF-α and IFN-γ production were observed. MNPs did not affect phagocytic activity of monocytes and granulocytes when added to cells for 24 and 48 h. Phagocytic respiratory burst was significantly enhanced in the cultures exposed to 75 µg MNPs/cm2 for 48 h. CONCLUSIONS: The cytotoxicity and in vitro immunotoxicity were found to be minimal in the newly developed porous core-shell γ-Fe2O3&SiO2-NH2 magnetic nanoparticles.

• MeSH
• fagocyty fyziologie   MeSH
• faktor stimulující granulocyto-makrofágové kolonie metabolismus   MeSH
• interleukin-6 metabolismus   MeSH
• interleukin-8 metabolismus   MeSH
• leukocyty fyziologie   MeSH
• lidé MeSH
• lymfocyty fyziologie   MeSH
• nanoslupky chemie   ultrastruktura   MeSH
• oxid křemičitý chemie   MeSH
• průtoková cytometrie MeSH
• respirační vzplanutí fyziologie   MeSH
• TNF-alfa metabolismus   MeSH
• vztahy mezi strukturou a aktivitou MeSH
• železité sloučeniny chemie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

AIM: To determine whether the promoter polymorphism -203A>C of cholesterol-7α-hydroxylase encoding gene (CYP7A1) affects diurnal variation in CYP7A1 enzyme activity. METHODS: The study included 16 healthy male volunteers - 8 homozygous for -203A and 8 homozygous for the -203C allele of CYP7A1. Three 15-hour examinations (from 7am to 10pm) were carried out for each of the participants: after one-day treatment with cholestyramine; after one-day treatment with chenodeoxycholic acid (CDCA); and a control examination without any treatment. The plasma concentration of 7α-hydroxy-4-cholesten-3-one (C4), a marker of CYP7A1 activity, was determined in all the experiments at 90-min intervals. RESULTS: CYP7A1 activity was up-regulated after treatment with cholestyramine and suppressed after treatment with CDCA. There were no differences between -203A and -203C allele carriers in the response of enzyme activity to both drugs. In the control experiment, -203A allele carriers displayed diurnal variation in enzyme activity, whereas CYP7A1 activity did not change in -203C allele carriers. These results were confirmed by modeling the dynamics of C4 using polynomial regression. CONCLUSION: The promoter polymorphism of the CYP7A1 gene has a pronounced impact on diurnal variation in CYP7A1 activity.

• MeSH
• aktivace enzymů MeSH
• cholestenony krev   MeSH
• cholesterol-7-alfa-hydroxylasa genetika   metabolismus   MeSH
• cholesterol krev   MeSH
• cirkadiánní rytmus fyziologie   MeSH
• dospělí MeSH
• lidé MeSH
• plocha pod křivkou MeSH
• polymorfismus genetický * MeSH
• promotorové oblasti (genetika) MeSH
• upregulace MeSH
• žlučové kyseliny a soli biosyntéza   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• antibakteriální látky terapeutické užití   MeSH
• databáze faktografické statistika a číselné údaje   MeSH
• lékařská praxe - způsoby provádění statistika a číselné údaje   MeSH
• lékové předpisy statistika a číselné údaje   MeSH
• lidé MeSH
• peniciliny terapeutické užití   MeSH
• praktičtí lékaři statistika a číselné údaje   MeSH
• spotřeba léčiv statistika a číselné údaje   MeSH
• zdravotní pojištění statistika a číselné údaje   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• Geografické názvy
• Česká republika MeSH

AIM: To evaluate Y-chromosomal diversity of the Moravian Valachs of the Czech Republic and compare them with a Czech population sample and other samples from Central and South-Eastern Europe, and to evaluate the effects of genetic isolation and sampling. METHODS: The first sample set of the Valachs consisted of 94 unrelated male donors from the Valach region in northeastern Czech Republic border-area. The second sample set of the Valachs consisted of 79 men who originated from 7 paternal lineages defined by surname. No close relatives were sampled. The third sample set consisted of 273 unrelated men from the whole of the Czech Republic and was used for comparison, as well as published data for other 27 populations. The total number of samples was 3244. Y-short tandem repeat (STR) markers were typed by standard methods using PowerPlex® Y System (Promega) and Yfiler® Amplification Kit (Applied Biosystems) kits. Y-chromosomal haplogroups were estimated from the haplotype information. Haplotype diversity and other intra- and inter-population statistics were computed. RESULTS: The Moravian Valachs showed a lower genetic variability of Y-STR markers than other Central European populations, resembling more to the isolated Balkan populations (Aromuns, Csango, Bulgarian, and Macedonian Roma) than the surrounding populations (Czechs, Slovaks, Poles, Saxons). We illustrated the effect of sampling on Valach paternal lineages, which includes reduction of discrimination capacity and variability inside Y-chromosomal haplogroups. Valach modal haplotype belongs to R1a haplogroup and it was not detected in the Czech population. CONCLUSION: The Moravian Valachs display strong substructure and isolation in their Y chromosomal markers. They represent a unique Central European population model for population genetics.

• MeSH
• amplifikace genu MeSH
• DNA analýza   MeSH
• genetická variace genetika   MeSH
• haplotypy MeSH
• lidé MeSH
• lidský chromozom Y genetika   MeSH
• mikrosatelitní repetice genetika   MeSH
• modely genetické MeSH
• ochrana genetických informací MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH

AIM: To analyze the genesis of hypertrophic cardiomyopathy on a large cohort of patients from molecular genetics point of view and perform the functional analysis of the 3D molecular model of defective myosin-7 protein in silico. METHODS: The study enrolled 153 patients with diagnosed hypertrophic cardiomyopathy from different parts of the Czech Republic. DNA samples were analyzed for mutations in exons 21 and 22 of the MYH7 gene, which have been associated with high mutation clustering. The 3D model of human myosin-7 was built using the x-ray structure of nucleotide-free scallop myosin S1 as the structural template. We performed de novo structure prediction of mutant and wild type peptides spanning the 769-788 amino acids region of the myosin-7 protein. RESULTS: The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy. The Asp778Val variation was chosen for subsequent 3D molecular modeling in silico. The mutation of the Asp by Val not only changes the character of the interaction pattern with other amino acids or ions but Val, being a small hydrophobic amino acid, can also completely change the stability of the region. CONCLUSION: Mutation location in the MYH7 gene and changes in amino acid composition may have a crucial negative impact on the outcome of the disease in patients with hypertrophic cardiomyopathy. In addition, a mutation that changes the charge of the amino acid is more likely to affect protein function than a conservative mutation.

• MeSH
• databáze genetické MeSH
• DNA analýza   MeSH
• dospělí MeSH
• hodnocení rizik MeSH
• hypertrofická kardiomyopatie diagnóza   genetika   patologie   MeSH
• kohortové studie MeSH
• lidé MeSH
• mladý dospělý MeSH
• molekulární modely MeSH
• mutace MeSH
• myosiny genetika   MeSH
• počítačová simulace MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH