VÝCHODISKA: Problémové hráčství je spojeno s vysokým výskytem psychiatrické komorbidity. Časté jsou sebevražedné myšlenky a pokusy, přičemž dokonané sebevraždy se významně podílí na úmrtnosti problémových hráčů. CÍLE: Zjistit míru a strukturu úmrtnosti problémových hráčů a podíl sebevražednosti na ní. METODIKA: Database-linkage retrospektivní kohortová studie mortality osob hospitalizovaných v ČR v 1.1994-2011 v lůžkových )sychiatrických zařízeních s primární či sekundární diagnózou patologické hráčství (F63.0 podle MKN-10). Zdroje lat byly Národní registr hospitalizovaných a informační systém Zemřelí. Byla provedena nepřímá standardizace a vypočítán standardizovaný index úmrtnosti (SMR). Struktura úmrtnosti v souboru J patologických hráčů byla po vážení na pohlaví a věk porovnána se strukturou úmrtnosti obecné populace v 1.1994-2011. VÝSLEDKY: V kohortě se nacházelo celkem 7704 osob, z toho 7215 (93,7%) mužů a 489 (6,3 %) žen, v průměrném věku 33,2 roku (muži 32,7, ženy 40,5). Celkový osobočas sledování dosáhl 64 370 osoboroků. Zemřelo 547 osob, z toho 516 mužů a 31 žen. Průměrná roční hrubá míra úmrtnosti dosáhla celkem 8,50 /1000 osob, u mužů 8,44 a u žen 9,63. Střední hodnota SMR se v jednotlivých letech pohybovala kolem 2, u žen byly střední hodnoty SMR mírně vyšší než u mužů. Ve struktuře hrubé úmrtnosti patologických hráčů dominovaly vnější příčiny úmrtí (44,6 %), z toho většinu tvořily sebevraždy (26,7 % všech úmrtí). Po převážení na strukturu obecné populace byl podíl sebevražd nižší (4,8 %), přesto převyšoval podíl sebevražd na úmrtnosti obecné populace 3,4krát. ZÁVĚR: Sebevražednost je podstatnou součástí klinického obrazu problémového hráčství a významně se podílí na úmrtnosti patologických hráčů. V péči o problémové hráče je potřeba rizikům sebevraždy věnovat náležitou pozornost.

BACKGROUND: Problem gambling is associated with a high prevalence of psychiatric comorbidity and suicidality, which substantially contributes to the mortality of problem gamblers. AIMS: To explore the mortality rate of problem gamblers and contribution of suicides to its structure. METHODS: A database-linkage retrospective cohort mortality study of persons hospitalised in psychiatric facilities with diagnosis of pathological gambling (dg. F63.0 according to ICD-10) in the CR in 1994-2011 was performed. The National Register of Hospitalisations and the Death Information System were data sources. The Indirect standardisation was performed and the Standardised Mortality Ratio (SMR) was computed. The mortality structure in the sample was compared with that of the general population in the 1994-2011 after adjusting for gender and age. RESULTS: There were 7,704 individuals in the cohort, of whom 7,215 (93.7%) were males and 489 (6.3%) females, with the mean age of 33.2 years, (males 32.7, females 40.5). The total person-time of observation was 64,370 person-years. In total, 547 persons died (516 males, 31 females). The mean annual crude mortality rate was 8.50/1,000 persons (8.44 in the males, 9.63 in the females). The central estimate of SMR was approximately 2 over the years, slightly higher in females. External causes of death predominated in the crude vortality structure of the hospitalised gamblers (44.6%), most of whom were suicides (26.7% of all the deaths). The adjusted (for gender and age) proportion of suicides was 3.4 times higher than in the general population. CONCLUSION: Suicidality represents a considerable part of clinical picture of gambling disorder and significantly determines mortality of disordered gamblers. Attention should be paid to the risk of suicides in disordered gamblers in treatment.

• Klíčová slova
• problémové hráčství, hráčská porucha,
• MeSH
• dospělí MeSH
• hospitalizace MeSH
• hráčství * mortalita   MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• návykové chování MeSH
• retrospektivní studie MeSH
• sebevražda * statistika a číselné údaje   MeSH
• senioři MeSH
• statistika jako téma 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
• práce podpořená grantem MeSH

The harmful use of alcohol causes almost 6% of deaths worldwide and is related to more than 200 diseases. The most frequent causes of death in people with alcohol use disorders are diseases of the gastro-intestinal tract and cancer. External causes are particularly common among men. These persons die prematurely in comparison with the general population. AIMS: To analyse the structure of the mortality of persons hospitalised for alcohol use disorders in 1994–2013 and to calculate these persons’ potential years of life lost. METHODS: A database-linkage study of data from the National Registry of Hospitalised Patients and from the Deaths Information System was performed. In the National Registry of Hospitalised Patients, 204,807 hospitalisations of 90,376 persons with the primary diagnosis F10 were identified in the period 1994–2013. Of those, 25,815 people died. RESULTS: Almost 83% of those 25,815 patients were economically active. The most frequent causes of death in this group included liver diseases (18%), diseases of the circulatory system (15%), malignant neoplasms (7%), and disorders caused by the use of alcohol (3%). External causes (24%) most often involved random accidents (13%). Suicides were also high in numbers. The potential years of life lost (PYLL) indicator showed that 24.2 years were lost in one economically active person. CONCLUSION: Most persons who died were economically active. Liver diseases, cardiovascular diseases, tumours, and external causes were the most frequent causes of death. More than 24 years were lost in one economically active person.

• Klíčová slova
• PYLL, DATABASE-LINKAGE studie,
• MeSH
• adresáře jako téma MeSH
• alkoholické nemoci jater mortalita   MeSH
• alkoholismus * komplikace   mortalita   MeSH
• hospitalizace MeSH
• kardiovaskulární nemoci klasifikace   mortalita   MeSH
• lidé MeSH
• nádory klasifikace   mortalita   MeSH
• nemoci jater mortalita   MeSH
• poruchy vyvolané alkoholem * klasifikace   mortalita   MeSH
• předčasná smrt * MeSH
• příčina smrti * MeSH
• výzkum MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

• Klíčová slova
• Cochrane Database,
• MeSH
• databáze jako téma MeSH
• informační služby MeSH
• informační systémy využití   MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• ukládání a vyhledávání informací využití   MeSH
• Publikační typ
• abstrakt z konference MeSH

• MeSH
• databáze faktografické trendy   využití   MeSH
• internet přístrojové vybavení   trendy   využití   MeSH
• pilotní projekty MeSH
• počítačové komunikační sítě přístrojové vybavení   trendy   využití   MeSH
• systémová integrace MeSH
• systémy řízení databází trendy   využití   MeSH
• telekomunikace přístrojové vybavení   trendy   využití   MeSH
• ukládání a vyhledávání informací metody   využití   MeSH
• využití lékařské informatiky MeSH

According to the World Health Organisation, rheumatic diseases are likely to go on occupying a prominent place worldwide. As to US statistics, rheumatic diseases are currently the most frequent chronic disorders and leading cause of disability. The development of functional clinical database or rheumatic diseases represents an essential condition how to acquire necessary epidemiological and other information on disorders under study. In 1999-2003, Institute of Rheumatology in cooperation with EuroMISE have developed clinical database/national register of selected systemic inflammatory rheumatic diseases inclusive of bank of sera and DNA. Aims of this phase of the pilot research have been formulated into following relevant and time borders: to gather clinical, laboratory, genetic but also pharmaco- and socio-economic data in a representative sample of patients with systemic lupus erythematosus, systemic sclerosis, polymyositis/dermatomyositis, mixed connective tissue disease; rheumatoid arthritis, juvenile chronic arthritis, ankylosing spondylitis, psoriatic arthritis and reactive arthritis. The data about patients entering the register are differentiated according to the disease of the patient. However, many diseases have several data in common. Therefore, a simple common data structure for examination of all monitored diseases was chosen. In 2002, the preset number of over 2000 registered patients had been achieved with collaboration of 34 territorial and 20 institutional rheumatologists in the whole covering the majority of the Czech Republic. Some first acquired information inclusive comparison with German database is demonstrated.

• MeSH
• biomedicínský výzkum organizace a řízení   MeSH
• chorobopisy - počítačové systémy organizace a řízení   MeSH
• chorobopisy - spojování metody   MeSH
• databáze faktografické MeSH
• financování organizované MeSH
• lidé MeSH
• počítačové komunikační sítě MeSH
• registrace MeSH
• revmatické nemoci epidemiologie   MeSH
• šíření informací metody   MeSH
• systémy řízení databází organizace a řízení   MeSH
• telemedicína metody   organizace a řízení   MeSH
• ukládání a vyhledávání informací metody   MeSH
• zánět epidemiologie   MeSH
• Check Tag
• lidé MeSH
• Geografické názvy
• Česká republika MeSH

INTRODUCTION: Currently used tools for breast cancer prognostication and prediction may not adequately reflect a young patient's prognosis or likely treatment benefit because they were not adequately validated in young patients. Since breast cancers diagnosed at a young age are considered prognostically unfavourable, many treatment guidelines recommend adjuvant systemic treatment for all young patients. Patients cured by locoregional treatment alone are, therefore, overtreated. Lack of prognosticators for young breast cancer patients represents an unmet medical need and has led to the initiation of the PAtients with bReAst cancer DIaGnosed preMenopausally (PARADIGM) initiative. Our aim is to reduce overtreatment of women diagnosed with breast cancer aged ≤40 years. METHODS AND ANALYSIS: All young, adjuvant systemic treatment naive breast cancer patients, who had no prior malignancy and were diagnosed between 1989 and 2000, were identified using the population based Netherlands Cancer Registry (n=3525). Archival tumour tissues were retrieved through linkage with the Dutch nationwide pathology registry. Tissue slides will be digitalised and placed on an online image database platform for clinicopathological revision by an international team of breast pathologists. Immunohistochemical subtype will be assessed using tissue microarrays. Tumour RNA will be isolated and subjected to next-generation sequencing. Differences in gene expression found between patients with a favourable and those with a less favourable prognosis will be used to establish a prognostic classifier, using the triple negative patients as proof of principle. ETHICS AND DISSEMINATION: Observational data from the Netherlands Cancer Registry and left over archival patient material are used. Therefore, the Dutch law on Research Involving Human Subjects Act (WMO) is not applicable. The PARADIGM study received a 'non-WMO' declaration from the Medical Ethics Committee of the Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, waiving individual patient consent. All data and material used are stored in a coded way. Study results will be presented at international (breast cancer) conferences and published in peer-reviewed, open-access journals.

• MeSH
• časové faktory MeSH
• dospělí MeSH
• exprese genu MeSH
• kohortové studie MeSH
• lidé MeSH
• nádory prsu genetika   metabolismus   patologie   chirurgie   MeSH
• prognóza MeSH
• receptor erbB-2 metabolismus   MeSH
• receptory pro estrogeny metabolismus   MeSH
• receptory progesteronu metabolismus   MeSH
• registrace MeSH
• výzkumný projekt * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: Maternal smoking has a negative effect on all stages of pregnancy. Tobacco smoke-related defects are well established at the clinical level; however, less is known about molecular mechanisms underlying these pathologic conditions. We thus performed a comprehensive analysis of transcriptome alterations induced by smoking in maternal and fetal cells. STUDY DESIGN: Samples of peripheral blood (PB), placenta (PL), and cord blood (UCB) were obtained from pregnant smokers (n = 20) and gravidas without significant exposure to tobacco smoke (n = 52). Gene expression profiles were assayed by Illumina Expression Beadchip v3 for analysis of 24,526 transcripts. The quantile method was used for normalization. Differentially expressed genes were analyzed in the Limma package and the P-values were corrected for multiple testing. Unsupervised hierarchical clustering was performed using average linkage and Euclidean distance. The enrichment of deregulated genes in biological processes was analyzed in DAVID database. RESULTS: Comparative analyses defined significant deregulation of 193 genes in PB, 329 genes in PL, and 49 genes in UCB of smokers. The deregulated genes were mainly related to xenobiotic metabolism, oxidative stress, inflammation, immunity, hematopoiesis, and vascularization. Notably, functional annotation of the affected genes identified several deregulated pathways associated with autoimmune diseases in the newborns of smokers. CONCLUSIONS: The study demonstrated maternal smoking causes significant changes in transcriptome of placental and fetal cells that deregulate numerous biological processes important for growth and development of the fetus. An activation of fetal CYP genes showed a limited ability of the placenta to modulate toxic effects of maternal tobacco use.

• MeSH
• dospělí MeSH
• fetální krev metabolismus   MeSH
• kohortové studie MeSH
• kotinin krev   MeSH
• kouření škodlivé účinky   krev   genetika   metabolismus   MeSH
• kvantitativní polymerázová řetězová reakce MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• novorozenec MeSH
• placenta metabolismus   patologie   MeSH
• plod patologie   MeSH
• RNA chemie   genetika   MeSH
• sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
• těhotenství MeSH
• transkriptom fyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• biomedicínský výzkum MeSH
• databáze genetické MeSH
• finanční podpora výzkumu jako téma MeSH
• financování organizované MeSH
• klinické lékařství MeSH
• lidé MeSH
• sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
• software MeSH
• stanovení celkové genové exprese MeSH
• systémová integrace MeSH
• systémy řízení databází MeSH
• ukládání a vyhledávání informací MeSH
• výpočetní biologie MeSH
• Check Tag
• lidé MeSH

Aim: To determine the mortality in a cohort of very young injecting drug users (IDUs), and the factors associated with it. Design: A database linkage prospective (follow-up) cohort study. Setting: A convenience sample of clients of 2 low-threshold facilities, 1 drug treatment clinic, and one special facility for children with severe behavioural disorders, who were all younger than 19 and older than 15, was interviewed one or more times in 1996–8 and asked to agree with their being interviewed again after 10 or more years. Participants: 151 (65 male, 86 female) IDUs recruited in October 1996 – December 1998. Measurement: Database linkage study compared unique identifiers (IDs) of the recruited subjects with the general register of deaths to determine the life status, and the causes of death of those deceased. Where necessary, we examined the death protocols directly. Findings: Altogether, 8 deaths were registered between recruitment and 31st December 2008 (1,660 person-years). All the deceased were male, and all their deaths were "unnatural" – that is, caused by drug overdose or accident. This translates into the crude mortality rates for the whole cohort being 4.8 deaths per 1,000 person-years (PY), and into a specific mortality ratio in the males SMR=14.4 with the peak at the age of 15–20 (SMR=60.1), declining to SMR=8.2 at the age of 25–30. Except gender, we found no "predictors of death" in this high-risk cohort. Conclusion: The overall mortality in the cohort was substantially higher than in the general population; in the male part of the cohort of young injecting drug users it was excessively high in the first three years after recruitment, and caused by external causes exclusively; the mortality in the female sub-cohort was zero, i.e. lower than in the general population of the same age range. Our findings suggest a need to develop targeted prevention of overdoses and other unnatural deaths in young male drug injectors.

• MeSH
• chorobopisy - spojování MeSH
• dospělí MeSH
• intravenózní abúzus drog mortalita   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• následné studie MeSH
• předávkování léky mortalita   MeSH
• příčina smrti MeSH
• rizikové faktory MeSH
• rozložení podle pohlaví MeSH
• sebevražda statistika a číselné údaje   MeSH
• věkové rozložení MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Genome-wide and candidate gene studies for pulmonary sarcoidosis have highlighted several candidate variants among different populations. However, the genetic basis of functional rare variants in sarcoidosis still needs to be explored. To identify functional rare variants in sarcoidosis, we sequenced exomes of 22 sarcoidosis cases from six families. Variants were prioritized using linkage and high-penetrance approaches, and filtered to identify novel and rare variants. Functional networking and pathway analysis of identified variants was performed using gene ontology based gene-phenotype, gene-gene, and protein-protein interactions. The linkage (n = 1007-7640) and high-penetrance (n = 11,432) prioritized variants were filtered to select variants with (a) reported allele frequency < 5% in databases (1.2-3.4%) or (b) novel (0.7-2.3%). Further selection based on functional properties and validation revealed a panel of 40 functional rare variants (33 from linkage region, 6 highly penetrant and 1 shared by both approaches). Functional network analysis implicated these gene variants in immune responses, such as regulation of pro-inflammatory cytokines including production of IFN-γ and anti-inflammatory cytokine IL-10, leukocyte proliferation, bacterial defence, and vesicle-mediated transport. The KEGG pathway analysis indicated inflammatory bowel disease as most relevant. This study highlights the subsets of functional rare gene variants involved in pulmonary sarcoidosis, such as, regulations of calcium ions, G-protein-coupled receptor, and immune system including retinoic acid binding. The implicated mechanisms in etiopathogenesis of familial sarcoidosis thus include Wnt signalling, inflammation mediated by chemokine and cytokine signalling and cadherin signalling pathways.

• MeSH
• celogenomová asociační studie MeSH
• exom * MeSH
• fenotyp MeSH
• genetická predispozice k nemoci * MeSH
• genetická variace * MeSH
• genetické markery * MeSH
• genotyp MeSH
• genové regulační sítě * MeSH
• lidé MeSH
• plicní sarkoidóza genetika   patologie   MeSH
• rodokmen MeSH
• sekvenční analýza DNA metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH