Prezentace kazuistiky mladého pacienta, přijatého s příznaky renální koliky, u kterého následné zobrazovací vyšetření odhalilo objemný tumor ledviny. V čase diagnózy již byla přítomna metastáza v regionální lymfatické uzlině. U pacienta byla provedena radikální nefrektomie a lymfadenektomie s histologickým nálezem karcinomu ledviny z renálních buněk s Xp 11,2 translokací, pT2a N1 M0 G3. Pacient je dále sledován na urologické a onkologické ambulanci, kde mu byla nasazena cílená léčba v rámci klinické studie a je bez známek generalizace onemocnění.

A case report of a young patient with an image of a renal colic, with a finding of a huge renal tumour. A metastasis in a regional lymph node was present at time of diagnosis. The patient has undergone a radical nephrectomy and lymphadenectomy with a histological finding of a renal cell carcinoma with a Xp 11,2 translocation, pT2a N1 Mo G3. Patient has started a target therapy as a part of a clinical trial and he is without signs of metastases.

• MeSH
• Adult MeSH
• Angiogenesis Inhibitors * administration & dosage   MeSH
• Carcinoma, Renal Cell * drug therapy   genetics   surgery   pathology   MeSH
• Humans MeSH
• Lymph Node Excision * methods   MeSH
• Lymphatic Metastasis pathology   MeSH
• Pyrimidines administration & dosage   MeSH
• Sulfonamides administration & dosage   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

Background Females with Turner syndrome (TS) are prone to develop autoimmune diseases (AIDs). The X chromosome contains several immune-related genes. Growth hormone (GH) and estrogens modulate the immune system. We aimed to clarify whether the loss of a specific X chromosome gene locus and the administration of GH and estradiol facilitate the development of AIDs in TS females. Methods Retrospective data on clinical course, AIDs, karyotype and treatment were analyzed from a cohort of 286 Czech females with TS (current age 2.8-43.3 years; median age 18.7 years). The karyotypes were sorted using two different classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused approach. Karyotype subgroups with a significantly higher prevalence of AIDs were further evaluated. Data of common therapies were correlated with the prevalence of AIDs. Results The most frequent AIDs were autoimmune thyroid disease (AITD; 37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups were prone to develop AIDs. Females with an isolated Xp deletion had a significantly higher prevalence of AITD and CD compared to all other individuals with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04, respectively). We observed no link between the mean age at initiation as well as the duration of GH and/or estrogen administration and the occurrence of AIDs. Conclusions Isolated Xp deletion contributes to the development of AIDs in TS patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this observation. Common therapies used in TS do not modify the risk of AIDs.

• MeSH
• Autoimmune Diseases epidemiology   etiology   MeSH
• Chromosome Deletion * MeSH
• Child MeSH
• Adult MeSH
• Karyotyping MeSH
• Humans MeSH
• Chromosomes, Human, X genetics   MeSH
• Adolescent MeSH
• Young Adult MeSH
• Follow-Up Studies MeSH
• Child, Preschool MeSH
• Prevalence MeSH
• Prognosis MeSH
• Retrospective Studies MeSH
• Turner Syndrome complications   genetics   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czech Republic MeSH

OBJECTIVES: The aim of the study was to determine whether left ventricular electrical potential measured by electromechanical mapping with the NOGA XP system has predictive value for response to CRT. BACKGROUND: Approximately 30% of patients who undergo cardiac resynchronization therapy do not see the expected effects. METHODS: The group of 38 patients qualified for CRT implantation were included in the study, of which 33 patients were analyzed. A 15% reduction in ESV after 6 months of pacing was used as a criterion for a positive response to CRT. The mean value and sum of unipolar and bipolar potentials obtained by mapping with the NOGA XP system and their predictive value in relation to the effect of CRT were analyzed using a bulls-eye projection at three levels: 1) the global value of the left ventricular (LV) potentials, 2) the potentials of the individual LV walls and 3) the mean value of the potentials of the individual segments (basal and middle) of the individual LV walls. RESULTS: 24 patients met the criterion of a positive response to CRT vs. 9 non-responders. At the global analysis stage, the independent predictors of favorable response to CRT were the sum of the unipolar potential and bipolar mean potential. In the analysis of individual left ventricular walls, the mean bipolar potential of the anterior and posterior wall and in the unipolar system, mean septal potential was found to be an independent predictor of favorable response to CRT. In the detailed segmental analysis, the independent predictors were the bipolar potential of the mid-posterior wall segment and the basal anterior wall segment. CONCLUSIONS: Measurement of bipolar and unipolar electrical potentials with the NOGA XP system is a valuable method for predicting a favorable response to CRT.

• Publication type
• Journal Article MeSH

Introduction: Cell therapy has the potential to improve symptoms and clinical outcomes in refractory angina (RFA). Further analyses are needed to evaluate factors influencing its therapeutic effectiveness. Aim: Assessment of electromechanical (EM) parameters of the left ventricle (LV) and investigation of correlation between EM parameters of the myocardium and response to CD133+ cell therapy. Material and methods: Thirty patients with RFA (16 active and 14 placebo individuals) enrolled in the REGENT-VSEL trial underwent EM evaluation of the LV with intracardiac mapping system. The following parameters were analyzed: unipolar voltage (UV), bipolar voltage (BV), local linear shortening (LLS). Myocardial ischemia was evaluated with single-photon emission computed tomography (SPECT). The median value of each EM parameter was used for intra-group comparisons. Results: Global EM parameters (UV, BV, LLS) of LV in active and placebo groups were 11.28 mV, 3.58 mV, 11.12%, respectively; 13.00 mV, 3.81 mV, 11.32%, respectively. EM characteristics analyzed at global and segmental levels did not predict response to CD133+ cell therapy in patients with RFA (Global UV, BV and LLS at rest R = -0.06; R = 0.2; R = -0.1 and at stress: R = 0.07, R = 0.09, R = -0.1, respectively; Segmental UV, BV, LLS at rest R = -0.2, R = 0.03, R = -0.4 and at stress R = 0.02, R = 0.2, R = -0.2, respectively). Multiple linear regression of the treated segments showed that only pre-injection SPECT levels were significantly correlated with post-injection SPECT, either at rest or stress (p < 0.05). Conclusions: Electromechanical characteristics of the left ventricle do not predict changes of myocardial perfusion by SPECT after cell therapy. Baseline SPECT results are only predictors of changes of myocardial ischemia observed at 4-month follow-up.

• Publication type
• Journal Article MeSH

We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein-coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded (maternal) but also the normal (paternal) FMR1 alleles. This pattern of skewed X-inactivation was confirmed using the analysis of methylation at the AR locus. The relatively mild phenotype of the patient resulted most likely from unmasking of the FMR1 defect. Although the deleted region contained many important genes, the phenotypic contribution of the rearranged X chromosome was probably limited by its almost complete inactivation. However, reduced dose of several genes escaping X-inactivation might also play a role in the phenotype of the patient.

• MeSH
• Autistic Disorder complications   genetics   MeSH
• Chromosome Deletion MeSH
• Child MeSH
• Adult MeSH
• Trinucleotide Repeat Expansion genetics   MeSH
• Genetic Loci genetics   MeSH
• X Chromosome Inactivation genetics   MeSH
• Karyotyping MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Chromosomes, Human, X genetics   MeSH
• Intellectual Disability complications   genetics   MeSH
• DNA Methylation genetics   MeSH
• Fragile X Mental Retardation Protein genetics   MeSH
• Parents MeSH
• Blotting, Southern MeSH
• Pregnancy MeSH
• Chromosome Breakage MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Corrosion of dental alloys is the main factor for adverse health reaction in patients. The goal of this study is clinical and immunological examination of these patients and corrosion analysis of dental metal materials used for teeth restoration. Immunological examination will be focused in cytokine production and Tr lymphocytes investigation in relation to corrosion products. Hard dental tissues with deposits of corrosion products will be studied by metalurgical analysis, transmission electron microscopy (TEM) and x-ray microanalysis. Surface of alloys will be examined with using XPS and AES.

Koroze dentálních slitin je příčinným faktorem vzniku nežádoucích zdravotních reakcí u pacientů. Cílem práce je studium tohoto problému s pomocí klinického a imunologického vyšetření, včetně korozní analýzy použitých slitin. Imunologické vyšetření bude zaměřeno na tvorbu cytokinů a expresi povrchových molekul Tr buněk v korozním prostředí. Obdobně bude sledováno i chování buněk přirozené imunity na komerčně dostupných liniích těchto buněk. Korozními produkty postižené tvrdé zubní tkáně budou podrobeny fyzikálně metalurgické analýze s použitím transmisní elektronové mikroskopie, XPS a AES spektroskopie a X- ray mikroanalýzy. In vivo bude měřen samovolný korozní potenciál slitin.

• MeSH
• Biomedical and Dental Materials adverse effects   MeSH
• Cytokines MeSH
• T-Lymphocytes, Cytotoxic MeSH
• Corrosion MeSH
• Electron Probe Microanalysis MeSH
• Alloys chemistry   MeSH
• Spectrum Analysis MeSH
• Microscopy, Electron, Transmission methods   trends   utilization   MeSH
• Dental Alloys adverse effects   MeSH

• Conspectus
• Stomatologie
• NML Fields
• zubní lékařství
• alergologie a imunologie
• NML Publication type
• závěrečné zprávy o řešení grantu IGA MZ ČR

Ploché střechy byly dlouho v podvědomí laické i odborné veřejnosti vnímány jako střechy problémové. Dnes jsou spolehlivé nejen proto, že jsou na jejich provedení nabízeny kvalitní výrobky, ale i proto, že projektanti i realizační firmy mají stále více informací o jejich vlastnostech i použití. Ploché střechy dnes už nemají jen funkci obalové konstrukce budov, ale umožňují i jejich provozní využití jako například terasy či střešní zahrady. Kniha je plná praktických informací zabývajících se provedením a funkcemi plochých střech. Jednotlivé druhy plochých střech jsou zde detailně popsány a každý druh ploché střechy je doplněn informacemi z oblasti stavební tepelné techniky, zpravidla včetně vzorových tepelně technických výpočtů.

• MeSH
• Chemistry MeSH
• Corrosion MeSH
• Metals MeSH
• Publication type
• Periodical MeSH

• Conspectus
• Nauka o materiálu
• NML Fields
• chemie, klinická chemie

Five types of amide-amine Carbon Nano-Particles (CNPs) were prepared by functionalization of CNPs and characterized by several analytical methods. The successful grafting of amines on CNPs was verified by X-ray photoelectron spectroscopy (XPS), organic elemental analysis and electrokinetic analysis. The size and morphology of CNPs were determined from transmission electron microscopy. The surface area and porosity of CNPs were examined by adsorption and desorption isotherms. Differential scanning calorimetry was used to investigate thermal stability of CNPs. The amount of bonded amine depends on its dimensionality arrangement. Surface area and pore volumes of CNPs decrease several times after individual amino-compound grafting. Selected types of functionalized CNPs were grafted onto a plasma activated surface of HDPE. The successful grafting of CNPs on the polymer surface was verified by XPS. Wettability was determined by contact angle measurements. Surface morphology and roughness were studied by atomic force microscopy. A dramatic decrease of contact angle and surface morphology was observed on CNP grafted polymer surface. Cytocompatibility of modified surfaces was studied in vitro, by determination of adhesion, proliferation and viability of vascular smooth muscle cells (VSMCs). Grafting of CNPs onto the polymer surface has a positive effect on the adhesion, proliferation and viability of VSMCs.

• MeSH
• Amines chemistry   MeSH
• Cells, Cultured MeSH
• Humans MeSH
• Myocytes, Smooth Muscle cytology   drug effects   MeSH
• Nanoparticles adverse effects   chemistry   MeSH
• Polyethylene chemistry   MeSH
• Cell Proliferation drug effects   MeSH
• Wettability MeSH
• Muscle, Smooth, Vascular cytology   MeSH
• Carbon chemistry   MeSH
• Cell Survival drug effects   MeSH
• Animals MeSH
• Check Tag
• Humans MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

The success of implant treatment is dependent on the osseointegration of the implant. The main goal of this work was to improve the biofunctionality of the Ti-13Nb-13Zr implant alloy by the production of oxide nanotubes (ONTs) layers for better anchoring in the bone and use as an intelligent carrier in drug delivery systems. Anodization of the Ti-13Nb-13Zr alloy was carried out in 0.5% HF, 1 M (NH4)2SO4 + 2% NH4F, and 1 M ethylene glycol + 4 wt.% NH4F electrolytes. Physicochemical characteristics of ONTs were performed by high-resolution electron microscopy (HREM), X-ray photoelectron spectroscopy (XPS), and scanning Kelvin probe (SKP). Water contact angle studies were conducted using the sitting airdrop method. In vitro biological properties and release kinetics of ibuprofen were investigated. The results of TEM and XPS studies confirmed the formation of the single-walled ONTs of three generations on the bi-phase (α + β) Ti-13Nb-13Zr alloy. The ONTs were composed of oxides of the alloying elements. The proposed surface modification method ensured good hemolytic properties, no cytotoxity for L-929 mouse cells, good adhesion, increased surface wettability, and improved athrombogenic properties of the Ti-13Nb-13Zr alloy. Nanotubular surfaces allowed ibuprofen to be released from the polymer matrix according to the Gallagher-Corrigan model.

• Publication type
• Journal Article MeSH