Major, Janos* Dotaz Zobrazit nápovědu
Personality traits influence risk for suicidal behavior. We examined phenotype- and genotype-level associations between the Big Five personality traits and suicidal ideation and attempt in major depressive, bipolar and schizoaffective disorder, and schizophrenia patients (N = 3012) using fixed- and random-effects inverse variance-weighted meta-analyses. Suicidal ideations were more likely to be reported by patients with higher neuroticism and lower extraversion phenotypic scores, but showed no significant association with polygenic load for these personality traits. Our findings provide new insights into the association between personality and suicidal behavior across mental illnesses and suggest that the genetic component of personality traits is unlikely to have strong causal effects on suicidal behavior.
- MeSH
- depresivní porucha unipolární * psychologie MeSH
- duševní zdraví MeSH
- fenotyp MeSH
- lidé MeSH
- osobnost genetika MeSH
- sebevražedné myšlenky * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
To compare the prevalence of cardiovascular disease (CVD) and major CVD risk factors among rheumatoid arthritis (RA) patients enrolled in a large US and multinational registry. We compared CVD and CVD risk factor prevalence from 11 countries enrolled in the CORRONA US and CORRONA International registries; patients from the 10 ex-US participating countries were grouped by region (Eastern Europe, Latin America, and India). Unadjusted summary data were presented for demographics and disease characteristics; comparisons for prevalence of CVD risk factors and CVD were age/gender standardized to the age/gender distribution of the US enrolled patients. Overall, 25,987 patients were included in this analysis. Compared to patients from the ex-US regions, US participants had longer disease duration and lower disease activity, yet were more likely to receive a biologic agent. Additionally, CORRONA US participants had the highest body mass index (BMI). Enrolled patients in India had the lowest BMI, were more rarely smokers, and had a low prevalence of hyperlipidemia, hypertension, and prior CVD compared to the US and other ex-US regions. Participants from Eastern Europe had a higher prevalence of hypertension and hyperlipidemia and highest prevalence of all manifestations of CVD. Differences in the prevalence of both CVD and major CVD risk factors were observed across the four regions investigated. Observed differences may be influenced by variations in both non-modifiable/modifiable characteristics of patient populations, and may contribute to heterogeneity on the observed safety of investigational and approved therapies in studies involving RA patients from different origins.
- MeSH
- hyperlipidemie epidemiologie MeSH
- hypertenze epidemiologie MeSH
- kardiovaskulární nemoci epidemiologie MeSH
- lidé MeSH
- prevalence MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- registrace MeSH
- revmatoidní artritida epidemiologie terapie MeSH
- rizikové faktory MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Argentina MeSH
- Brazílie MeSH
- Indie MeSH
- Mexiko MeSH
- Spojené státy americké MeSH
- východní Evropa MeSH
Coronary artery perforation (CAP) is a rare, life-threatening complication of percutaneous coronary intervention (PCI). PTFE-coated stents are highly successful and lifesaving in the treatment of coronary perforation. The incidence of thrombosis and restenosis in the PTFE-covered stent is higher than in standard stents. The aim of this study was to evaluate the clinical outcomes of PTFE-covered stents for CAP. Materials and methods: We evaluated a total of 38 patients who were treated with PTFE-coated stents for coronary perforation from January 2012 to January 2022 at a single high-volume center, Medipol University Hospital in Turkey. The primary endpoint was the composite of major adverse cardiovascular events (MACEs). Results: The one-year outcomes of the patients who had PTFE-coated stents implanted after CAP were investigated. A total of 38 patients, 22 (58%) males and 16 (42%) females, were included. The mean age was 69.7±11.4 years. MACE developed in 37% of the population (14 patients) in the follow-up. The target vessel revascularization (TVR) rate at one year was 36.8% (14 patients), the target lesion revascularization (TLR) rate at one year was 21% (8 patients), the incidence of death was 10.5% (4 patients), of myocardial infarction 21.1% (8 patients). Conclusions: Today, although the majority of coronary perforation cases are successfully treated with PTFE-coated stents, the one-year outcome of MACE in CS implanted patients is high. These results showed that such patients should be closely monitored.
Perforace koronární tepny (coronary artery perforation, CAP) je vzácnou, život ohrožující komplikací perkutánní koronární intervence (PCI). Vysoce úspěšnou a život zachraňující metodou léčby CAP je implantace stentů potažených polytetrafluorethylenem (PTFE). Incidence trombózy a restenózy při použití stentů potažených PTFE je vyšší než při implantaci standardních stentů. Cílem této studie bylo zhodnotit klinické výsledky použití stentů potažených PTFE při řešení CAP. Materiály a metody: Analyzovali jsme údaje celkem 38 pacientů s implantací stentů potažených PTFE po CAP provedenou v období mezi lednem 2012 a lednem 2022 na jednom pracovišti s vysokým objemem těchto výkonů (Medipol University Hospital v tureckém Istanbulu). Primárním sledovaným parametrem byl souhrn závažných nežádoucích kardiovaskulárních příhod (major adverse cardiovascular event, MACE). Výsledky: Hodnotili jsme jednoroční výsledky pacientů s implantací stentů potažených PTFE po CAP. Do studie bylo zařazeno celkem 38 pacientů; 22 (58 %) mužů a 16 (42 %) žen průměrného věku 69,7 ± 11,4 roku. Během sledování došlo ke vzniku MACE u 37 % daného souboru (14 pacientů). Do jednoho roku byla revaskularizace cílové tepny (target vessel revascularization, TVR) provedena u 36,8 % (14 pacientů) a revaskularizace cílové léze (target lesion revascularization, TLR) u 21 % (8 pacientů), incidence úmrtí dosáhla 10,5 % (4 pacienti) a infarktu myokardu 21,1 % (8 pacientů). Závěry: I když se dnes většina případů perforace koronární tepny úspěšně řeší zavedením stentů potažených PTFE, je jednoroční incidence MACE u pacientů s implantací takových stentů vysoká. Naše výsledky tak prokázaly, že uvedené pacienty je nutno důsledně sledovat.
BACKGROUND: Increased expression of the human epididymis protein 4 (HE4) was previously described in lung biopsy samples from patients with cystic fibrosis (CF). It remains unknown, however, whether serum HE4 concentrations are elevated in CF. METHODS: Seventy-seven children with CF from six Hungarian CF centers and 57 adult patients with CF from a Czech center were enrolled. In addition, 94 individuals with non-CF lung diseases and 117 normal control subjects with no pulmonary disorders were analyzed. Serum HE4 levels were measured by using an immunoassay, and their expression was further investigated via the quantification of HE4 messenger RNA by using quantitative reverse transcription polymerase chain reaction in CF vs non-CF respiratory epithelium biopsy specimens. The expression of the potential regulator miR-140-5p was analyzed by using an UPL-based quantitative reverse transcription polymerase chain reaction assay. HE4 was measured in the supernatants from unpolarized and polarized cystic fibrosis bronchial epithelial cells expressing wild-type or F508del-CFTR. RESULTS: Median serum HE4 levels were significantly elevated in children with CF (99.5 [73.1-128.9] pmol/L) compared with control subjects (36.3 [31.1-43.4] pmol/L; P < .0001). This observation was replicated in adults with CF (115.7 [77.8-148.7] pmol/L; P < .0001). In contrast, abnormal but lower HE4 concentrations were found in cases of severe bronchitis, asthma, pneumonia, and bronchiectasis. In patients with CF, the concentrations of HE4 were positively correlated with overall disease severity and C-reactive protein concentrations, whereas a significant inverse relationship was found between HE4 and the spirometric FEV1 value. Relative HE4 mRNA levels were significantly upregulated (P = .011) with a decreased miR-140-5p expression (P = .020) in the CF vs non-CF airway biopsy specimens. Twofold higher HE4 concentrations were recorded in the supernatant of polarized F508del-CF transmembrane conductance regulator/bronchial epithelial cells compared with wild-type cells. CONCLUSIONS: HE4 serum levels positively correlate with the overall severity of CF and the degree of pulmonary dysfunction. HE4 may thus be used as a novel inflammatory biomarker and possibly also as a measure of treatment efficacy in CF lung disease.
- MeSH
- bronchiální astma genetika metabolismus MeSH
- bronchiektazie genetika metabolismus MeSH
- bronchitida genetika metabolismus MeSH
- C-reaktivní protein metabolismus MeSH
- cystická fibróza genetika metabolismus patofyziologie MeSH
- dítě MeSH
- dospělí MeSH
- epitelové buňky metabolismus MeSH
- lidé MeSH
- messenger RNA metabolismus MeSH
- mikro RNA metabolismus MeSH
- mladiství MeSH
- mladý dospělý MeSH
- pneumonie genetika metabolismus MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- předškolní dítě MeSH
- protein CFTR genetika MeSH
- proteiny genetika metabolismus MeSH
- respirační sliznice metabolismus MeSH
- spirometrie MeSH
- studie případů a kontrol MeSH
- stupeň závažnosti nemoci MeSH
- usilovný výdechový objem MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools. AIMS: To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics. METHOD: Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts. RESULTS: Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = -0.34 years, s.e. = 0.08), major depression (β = -0.34 years, s.e. = 0.08), schizophrenia (β = -0.39 years, s.e. = 0.08), and educational attainment (β = -0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO. CONCLUSIONS: AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
- MeSH
- bipolární porucha * diagnóza epidemiologie genetika MeSH
- celogenomová asociační studie MeSH
- depresivní porucha unipolární * genetika MeSH
- lidé MeSH
- multifaktoriální dědičnost MeSH
- poruchy autistického spektra * MeSH
- věk při počátku nemoci MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Research Support, N.I.H., Extramural MeSH
Na základě přednášek prof. MUDr. Pavla Mohra, Ph.D., MUDr. Jana Čermáka a MUDr. Miloslava Kopečka, Ph.D.Na XIV. sjezdu Psychiatrické společnosti ČLS JEP v Mikulově se uskutečnilo sympozium, které shrnulo problematiku negativních symptomů schizofrenie (SCH), přehled jednotlivých fází tohoto onemocnění a možnosti léčby s názvem "Kariprazin - cesta k funkční remisi." Úvodního slova se ujal profesor P. Mohr, který se ve svém příspěvku věnoval negativním příznakům, jejich významu v klinické praxi, ale také možnostem jejich pozorování a hodnocení.
- Klíčová slova
- kariprazin,
- MeSH
- antipsychotika aplikace a dávkování terapeutické užití MeSH
- dospělí MeSH
- indukce remise MeSH
- kombinovaná farmakoterapie MeSH
- kongresy jako téma MeSH
- lidé MeSH
- piperaziny * aplikace a dávkování terapeutické užití MeSH
- schizofrenie farmakoterapie komplikace patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Atherosclerosis has a long preclinical phase, and the risk of cardiovascular (CV) events may be high in asymptomatic subjects. Conventional risk factors provide information for the statistical probability of developing CV events, but they lack precision in asymptomatic subjects. This review aims to summarize the role of some widely publicized indicators of early atherosclerosis in predicting CV events. The earliest measurable indicator of the atherosclerotic process is endothelial dysfunction, measured by flow-mediated dilation (FMD) of the brachial artery. However, reduced FMD is a stronger predictor of future CV events in patients with existing CV disease than in apparently healthy persons. Alternatively, measurement of carotid artery intima-media thickness does not improve the predictive value of risk factor scores, while detection of asymptomatic atherosclerotic plaques in carotid or common femoral arteries by ultrasound indicates high CV risk. Coronary calcium is a robust and validated help in the estimation of vascular changes and risk, which may improve risk stratification beyond traditional risk factors with relatively low radiation exposure. Arterial stiffness of the aorta, measured as the carotid-femoral pulse wave velocity is an independent marker of CV risk at the population level, but it is not recommended as a routine procedure because of measurement difficulties. Low ankle-brachial index (ABI) indicates flow-limiting atherosclerosis in the lower limbs and indicates high CV risk, while normal ABI does not rule out advanced asymptomatic atherosclerosis. Novel circulating biomarkers are associated with the atherosclerotic process. However, because of limited specificity, their ability to improve risk classification at present remains low.
- MeSH
- analýza pulzové vlny MeSH
- arteriae carotides diagnostické zobrazování MeSH
- ateroskleróza * diagnóza MeSH
- intimomediální šíře tepenné stěny MeSH
- kardiovaskulární nemoci * diagnóza MeSH
- konsensus MeSH
- lidé MeSH
- rizikové faktory MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND AND AIMS: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. METHODS: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. RESULTS: Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. CONCLUSIONS: Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
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- dítě MeSH
- idiopatické střevní záněty diagnóza etiologie terapie MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- prediktivní hodnota testů MeSH
- předškolní dítě MeSH
- věk při počátku nemoci MeSH
- vysoce účinné nukleotidové sekvenování * MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Úvod: Zdraví zdravotníků je vystaveno řadě rizikových faktorů, ke kterým se řadí i noční práce. Cílem předkládané studie bylo zhodnotit, zda se liší výskyt endpointu kardiovaskulárních onemocnění (EP) u zdravotníků vykonávajících a nevykonávajících noční práci, a to i s ohledem na dříve stanovené riziko vzniku kardiovaskulárního onemocnění (KVO). Metodika: V roce 2002–2007 byla u 3 210 zaměstnanců velké nemocnice stanovena míra rizika vzniku KVO podle Framinghamské studie. Pro další hodnocení byla vybrána skupina zdravotníků, kteří měli stanovené riziko KVO nad 10 % (n = 240). U těchto osob byly zjišťovány informace o výskytu EP po 10–15 letech, data byla přístupná u 175 osob. K tomuto souboru byl k odstranění vlivu věku a pohlaví vybrán metodou přizpůsobení (matching) kontrolní soubor 175 osob s rizikem vzniku KVO pod 10 %. Byl srovnáván výskyt EP u pracujících v noci a u nepracujících v noci i s ohledem na celkové riziko KVO. Výsledky: V souboru 175 pracovníků s rizikem KVO nad 10 % bylo 73 osob pracujících v noci, EP byl zaznamenán u 19,2 % z nich. Ve skupině 102 zdravotníků, nepracujících v noci byl zaznamenán EP u 16,7 %, rozdíl nebyl signifikantní. V kontrolním souboru vykonávalo noční práci 82 osob, EP byl zjištěn u 11,0 % z nich, 93 osob tohoto souboru noční práci nevykonávalo, EP byl shledán u 10,8 %, rozdíl nebyl statisticky významný. Větší rozdíl ve výskytu EP byl při srovnání skupiny pracovníků s rizikem KVO nad 10 % a navíc konajících noční služby (19,2 %) se skupinou osob s rizikem KVO pod 10 % a bez nočních služeb (10,7 %), ale ani tento rozdíl nebyl signifikantní (p = 0,1255). Závěr: Výskyt EP byl vyšší ve skupině pracujících v noci zejména ve spojení s dalšími rizikovými faktory KVO, rozdíly však nebyly statisticky významné. Omezením studie jsou zejména malé počty osob v jednotlivých skupinách. Problematika vyžaduje další zkoumání.
Introduction: Healthcare professionals are exposed to a number of risk factors, including night work. The present study aimed to assess whether the incidence of cardiovascular disease endpoints (EP) differs in night work performing and non-performing healthcare professionals, with respect to the previously established risk of developing cardiovascular disease (CVD). Methods: To a sample of 3,210 workers of a large hospital, a risk of CVD was assigned according to the Framingham heart study between 2002 and 2007. For further evaluation, a group of healthcare professionals who had a given CVD risk above 10% (n = 240) was selected. In these individuals, data on the occurrence of EP in previous 10-15 years were found, the data were accessible to 175 people. A control group of 175 workers with a CVD risk below 10% was added to remove the influence of age and gender. The incidence of EP was compared in those performing and non-performing night work with regard to the overall risk of CVD. Results: In the group of 175 workers with CVD risk above 10%, there were 73 persons working at night, EP was recorded in 19.2% of them. In 102 night work non-performing healthcare professionals, the EP was recorded in 16.7% of them, the difference was not significant. In the control group, 82 healthcare professionals worked at night, 11.0% of them had EP, whereas 93 professionals of the group did not work at night, the EP was found at 10.8% of them, the difference was not statistically significant. A greater difference in the occurrence of EP was found when compared the EP incidence in a sample of night work performing professionals with CVD risk over 10% (19.2%) with a sample of night work non-performing professionals with CVD risk below 10% (10.7%), however, the difference was not significant (p = 0.1255) either. Conclusion: The incidence of EP was higher in night working healthcare professionals, especially in a connection with other risk factors of CVD, but the differences were not statistically significant. The limitation of the study is a small number of individuals in both groups. This issue requires further investigation.
