• Publikační typ
• abstrakt z konference MeSH

OBJECTIVES: Colorectal cancer (CRC) remains a major health burden. Although screening is recommended and considered beneficial, further data on its positive effects are needed for worldwide implementation. STUDY DESIGN: The aim of our national multicentre prospective observational study was to reveal and document clinicopathological differences in CRC diagnosed by screening and presented by disease symptoms as well as assess the efficiency of the screening programme in the Czech Republic. METHODS: Between March 2013 and September 2015, a total of 265 patients were enrolled in 12 gastroenterology centres across the Czech Republic. Patients were divided into screening and symptomatic groups and compared for pathology status and clinical characteristics. Screening was defined as a primary screening colonoscopy or a colonoscopy after a positive faecal occult blood test in an average-risk population. RESULTS: The distribution of CRC stages was significantly (statistically and clinically) favourable in the screening group (predominance of stages 0, I and II) compared with the non-screening group (P < 0.001). The presence of distant and local metastases was significantly less frequent in the screening group than in the symptomatic group (P < 0.001). Patients in the screening group had a higher probability of radical surgery (R0) than those diagnosed based on symptoms (P < 0.001). Systemic palliative treatment was indicated in two patients in the screening group compared with 23 patients in the non-screening group (P = 0.018). CONCLUSION: CRC diagnosed by screening disclosed less advanced clinicopathological characteristics and results in patients with a higher probability of radical surgery (R0) than diagnoses established based on symptoms, with subsequent management differing accordingly between both groups. These results advocate the implementation of a suitable worldwide screening programme.

• MeSH
• časná detekce nádoru * MeSH
• kolonoskopie MeSH
• kolorektální nádory diagnóza   epidemiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• okultní krev MeSH
• plošný screening metody   MeSH
• prospektivní studie MeSH
• rizikové faktory MeSH
• senioři MeSH
• stupeň závažnosti nemoci MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• pozorovací studie MeSH
• Geografické názvy
• Česká republika MeSH

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values <0.05 considered significant. K3326X and I157T were associated with increased risk of developing sporadic PDAC (odds ratio (ORdom ) = 1.78, 95% confidence interval (CI) = 1.26-2.52, p = 1.19 × 10-3 and ORdom = 1.74, 95% CI = 1.15-2.63, p = 8.57 × 10-3 , respectively). Neither mutation was significantly associated with risk of developing early-onset PDAC. This retrospective study demonstrates novel risk estimates of K3326X and I157T in sporadic PDAC which suggest that upon validation and in combination with other established genetic and non-genetic risk factors, these mutations may be used to improve pancreatic cancer risk assessment in European populations. Identification of carriers of these risk alleles as high-risk groups may also facilitate screening or prevention strategies for such individuals, regardless of family history.

• MeSH
• checkpoint kinasa 2 genetika   MeSH
• duktální karcinom pankreatu genetika   MeSH
• genetická predispozice k nemoci MeSH
• geny BRCA2 * MeSH
• jednonukleotidový polymorfismus MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory slinivky břišní genetika   MeSH
• protein BRCA2 genetika   MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• zárodečné mutace MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Cílem příspěvku je zmapování finanční náročnosti sportování ve sportovních klubech v okrajových částech hl. města Prahy – Radotíně a Zbraslavi, jak u dětí a mládeže (v tomto případě do 18 let), tak i dospělých. Výzkum byl realizován prostřednictvím příslušných odborů městských částí, webových prezentací klubů a zejména polostrukturovaných rozhovorů s předními představiteli klubů. Mezi nejvíce finančně náročné sporty v daných lokalitách se řadí tenis v Radotíně a lední hokej ve Zbraslavi. Přímé náklady sportovců jen v klubu se pohybují mezi 18 – 20 tis. za rok. Naopak mezi nejméně zpoplatněné sporty patří – pétanque a volejbal v Radotíně a rybářství (obě lokality). Průměrné měsíční náklady na sportování dětí a mládeže ve sportovním klubu (bez tenisu a ledního hokeje) se vyšplhají na 466 Kč (Radotín) a 533 Kč (Zbraslav). Paradoxně sportování dospělých je levnější – 393 Kč v případě Radotína a 367 Kč v případě Zbraslavi (též bez tenisu a ledního hokeje). Z realizovaného výzkumu se zdá, že radotínské sportovní spolky fungují lépe než spolky zbraslavské, nejen z hlediska cenové politiky. V daných lokalitách jsou zpravidla dražší ty sporty, ve kterých je kladen důraz na závodní činnost. V těchto klubech musí členové vynakládat více finančních prostředků nejen na pravidelné tréninky, doplňkovou přípravu, přítomnost na přípravných kempech či placení poplatků na celostátních soutěžích.

The aim of this paper is to map the financial demands of sport in sports clubs from the suburbs of the capital city of Prague - Radotín and Zbraslav. The subjects of this research were children, youth (under 18 years of age) and adults. The study was undertaken with the help of the department of the local municipality council, the websites of the sports clubs and primarily through semi-structured interviews with sports clubs leaders. Tennis (Radotín) and ice-hockey (Zbraslav) were found to be the most financially demanding sports. Direct costs are between 18-20 thousand CZK per year. On the other hand among low cost sports were identified pétanque and volleyball in Radotín, and fishing (both localities). The average costs per month for sport for children and youth in sports clubs (excluding tennis and ice-hockey) are 466 CZK (Radotín) and 533 CZK (Zbraslav). Paradoxically sport activity for adults in sports clubs are cheaper than children and youth: 466 CZK in Radotín and 533 CZK in Zbraslav (also excluding tennis and ice-hockey). It follows from the survey that the sport associations based in Radotín do, indeed, function better that those situated in Zbraslav. This is especially true with regards to their price policy. They offer more expensive sports, which has a tendency to raise ambitions. In these sports clubs members must pay more money not only for regular training, but also for additional preparation, training camps and entrance fees to various events and so on.

• MeSH
• charakteristiky rodiny MeSH
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• náklady a analýza nákladů MeSH
• průzkumy a dotazníky MeSH
• socioekonomické faktory MeSH
• sport pro děti a mládež ekonomika   statistika a číselné údaje   MeSH
• sporty ekonomika   MeSH
• životní styl MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH

• MeSH
• chromozomální aberace * MeSH
• lidé MeSH
• poškození DNA MeSH
• referenční hodnoty MeSH
• sestřih RNA * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH

• Publikační typ
• abstrakt z konference MeSH

A functionally normal TP53 is essential to protect organisms from developing cancer. Somatic mutations in the gene represent one of the highest recurring perturbations in human tumours, including colorectal cancer (CRC). However, the variegated phenotype of wide spectrum of somatic mutations in TP53 and the complexity of the disease prevent a straight interpretation of the mutational analysis in tumours. In addition to the presence of somatic mutations, polymorphic features of the gene may also contribute to alteration of the normal TP53 functioning and variants, mainly in the form of single nucleotide polymorphisms, can be expected to impact susceptibility to sporadic CRC. In the present study, we reviewed the potential role of alterations in the TP53 gene, both somatic mutations and inherited sequence variations, in predisposition to CRC and in the prognosis and response to therapy. The available data from association studies have mostly shown contradictory outcomes. The majority of the studies were based on limited sample sizes and focussed on a limited number of polymorphisms, with main being the rs1042522 (Arg72Pro). Thus far, there is no possible generalisation of the role of TP53 as also a predictor of therapeutic response and prognosis. The effects of TP53, and its abnormalities, on the response of tumours to cytotoxic drugs, radiation and chemoradiation are complex. However, from studies it is emerging that the inherited genetics of TP53 pathway components could be utilised to further define patient populations in their abilities to induce p53 activity in response to either DNA damaging or p53-targeted therapies.

• MeSH
• genetická predispozice k nemoci MeSH
• kolorektální nádory genetika   MeSH
• lidé MeSH
• mutace genetika   MeSH
• nádorový supresorový protein p53 genetika   MeSH
• polymorfismus genetický genetika   MeSH
• prognóza MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

AIM: Ornithine decarboxylase (ODC) is a modifier of adenomatous polyposis coli-dependent tumourigenesis. The G316 > A polymorphism in intron 1 of the ODC gene lies between two myc-binding domains and alters the expression of the gene to affect polyamine metabolism. This variant may be associated with recurrence of colorectal adenoma. We examined whether this variant also modified the susceptibility to sporadic colorectal cancer (CRC). METHOD: The G316 > A variant was analysed in a large (n = 754) CRC case-controlled series of hospital patient volunteers (n = 627) in the Czech Republic, and the relationship with cancer risk was estimated by conditional logistic regression. RESULTS: After adjusting for age and sex, G316 > A was associated with no decrease in CRC risk for either heterozygotes [odds ratio 0.98, 95% confidence interval (CI) 0.77-1.23] or rare allele homozygotes (odds ratio 0.92, 95% CI 0.61-1.37). CONCLUSION: The G316 > A functional variant in the ODC gene is unlikely to make much impact on reducing CRC risk regardless of the reduction in risk found for the recurrence of colorectal adenoma.

• MeSH
• dospělí MeSH
• genotyp MeSH
• introny MeSH
• jednonukleotidový polymorfismus * MeSH
• karcinom genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• logistické modely MeSH
• nádory rekta genetika   MeSH
• nádory tračníku genetika   MeSH
• ornithindekarboxylasa genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

The question of susceptibility to squamous cell carcinoma of head and neck (SCCHN) in the environmental context was addressed by analysis of functional polymorphisms in enzymes metabolizing smoke constituents and/or alcohol (CYP2A13, CYP1B1, EPHX1, NQO1, GSTM1, GSTP1, GSTT1, ADH1B and ADH1C). Case-control study of 122 age- and sex-matched pairs of subjects was performed using so far unexplored Central European Slavic population with high level of tobacco and alcohol abuse. Age-, gender-, smoking- and alcohol-adjusted logistic regression failed to demonstrate any significant association of the analyzed polymorphisms with the SCCHN risk. When interactions between potential modifiers of effect, i.e. smoking and alcohol were tested, drinkers seemed to be at lower risk than nondrinkers when carrying the heterozygous genotype Ile/Val in codon 432 of CYP1B1 (OR=0.42; 95% CI=0.21-0.83; p=0.013 vs. OR=1.02; 95% CI=0.34-2.94; p=0.977). Similarly, drinkers were at lower risk than nondrinkers when carrying the heterozygous genotype Pro/Ser in codon 187 of NQO1 (OR=0.41; 95% CI=0.19-0.88; p=0.022 vs. OR=0.96; 95% CI=0.29-3.12; p=0.948). More interestingly, drinkers carrying the rare homozygous genotype Val/Val in codon 350 of ADH1C were at significantly higher risk than nondrinkers carrying this genotype (OR=4.01; 95% CI=1.61-10.01; p=0.003 vs. OR=0.93; 95% CI=0.25-3.57; p=0.919). This result confirmed findings of previously published studies. Smoking did not significantly modify the effect of genotypes. Our data thus demonstrate that genetic susceptibility to SCCHN shall be further followed on populations with different genetic background and lifestyle.

• MeSH
• alkoholdehydrogenasa genetika   MeSH
• aromatické hydroxylasy MeSH
• dospělí MeSH
• genotyp MeSH
• kouření MeSH
• lidé středního věku MeSH
• lidé MeSH
• logistické modely MeSH
• NAD(P)H dehydrogenasa (chinon) genetika   MeSH
• nádory hlavy a krku enzymologie   etnologie   etiologie   genetika   MeSH
• polymorfismus genetický MeSH
• riziko MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• spinocelulární karcinom enzymologie   etnologie   etiologie   genetika   MeSH
• studie případů a kontrol MeSH
• systém (enzymů) cytochromů P-450 genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH

• Publikační typ
• abstrakty MeSH