• MeSH
• duševní poruchy MeSH
• psychiatrie trendy   MeSH
• Publikační typ
• abstrakty MeSH
• kongresy MeSH

• Konspekt
• Psychiatrie
• NLK Obory
• psychiatrie

Familiárna hypercholesterolémia (FH) je monogénové autosómovo dominantne dedičné ochorenie, ktoré je charakterizované vysokou hladinou celkového a LDL-cholesterolu a vysokým rizikom aterosklerózou podmienených kardiovaskulárnych ochorení (ASKVO). Na stanovenie klinickej diagnózy FH sa najčastejšie používa Dutch Lipid Clinic Network Score (DLNC), ktoré je na Slovensku predpokladom pre DNA-analýzu FH. Cieľom našej štúdie bolo ukázať ako koreluje klinická diagnóza FH na základe DLNC s DNA-analýzou génov pre LDL-receptory, APOB a PCSK9. Zamerali sme sa na nepríbuzných jedincov (probandov). Kompletné údaje DNA-analýzy, klinického a biochemického vyšetrenia boli u 182 probandov. Porovnávali sa pacienti s primárnou hypercholesterolémiou, ktorí mali na základe skóre DLNC istú FH (defFH) alebo pravdepodobnú (probable)/možnú (possible) FH (pFH). LDL-receptory a gény APOB a PCSK9 sa analyzovali metódou next generation sequencing. 102 probandov bolo zaradených do skupiny defFH a 89 do skupiny pFH. Pacienti s defFH boli mladší, mali štatisticky významne vyšší výskyt xantomatózy, vyššiu hladinu celkového cholesterolu a LDL-cholesterolu ako pacienti v skupine pFH (p < 0,001,resp). Nezistili sme rozdiel vo výskyte ASKVO v osobnej ani rodinnej anamnéze. 72,5 % pacientov s klinickou diagnózou defFH malo potvrdenú mutáciu v génoch pre LDL-receptory alebo APOB, kým v skupine pFH to bolo 25,8 % (p < 0,001). Tento štatisticky významný rozdiel bol spojený s významne vyššou prevalenciou mutácií v géne pre LDL-receptor (60,8 % vs 14,6 %; p < 0,001). Prevalencia mutácií v géne APOB sa medzi oboma skupinami nelíšila (11,8 % vs 10,1 %, ns). Ani u jedného pacienta sa nezistil patologický variant v géne PCSK9. Ukázali sme, že v projekte MED-PED predstavuje DLNC efektívne kritérium pre diagnózu FH. Dá sa predpokladať, že v kombinácii s univerzálnym skríningom FH u detí by sa mohol významne zlepšiť záchyt monogénovej FH, a tým aj efektívna primárna prevencia včasných kardiovaskulárnych príhod.

Familial hypercholesterolemia (FH) is a monogenic autosomal dominant disease, which is characterized by a high level of total and LDL-cholesterol and a high risk of atherosclerosis-related cardiovascular diseases (ASCVD). To determine the clinical diagnosis of FH, the Dutch Lipid Clinic Network Score (DLNC) is most often used, which is a prerequisite for DNA analysis of FH in Slovakia. The aim of our study was to show how the clinical diagnosis of FH based on DLNC correlates with DNA analysis of genes for LDL-receptors, APOB and PCSK9. We focused on unrelated individuals – probands. Complete data of DNA analysis, clinical and biochemical examination were available for 182 probands. Patients with primary hypercholesterolemia who had definite FH (defFH) or probable/possible FH (pFH) based on the DLNC score were compared. LDL-receptors, ApoB and PCSK9 genes were analyzed by the next generation sequencing. 102 probands were assigned to the defFH group and 89 to the pFH group. Patients with defFH were younger, had a statistically significantly higher incidence of xanthomatosis, higher levels of total cholesterol and LDL-cholesterol than patients in the pFH group (p < 0.001, resp.). We did not find a difference in the incidence of ASCVD in personal or family history. 72.5 % of patients with a clinical diagnosis of defFH had a confirmed mutation in the genes for LDL-receptors or APOB, while in the pFH group it was 25.8 % (p < 0.001). This statistically significant difference was associated with a significantly higher prevalence of mutations in the LDL-receptor gene (60.8 % vs 14.6 %; p < 0.001). The prevalence of mutations in the APOB gene did not differ between the two groups (11.8 % vs 10.1 %, ns). Not a single patient was found to have a pathological variant in the PCSK9 gene. We have shown that in the MED-PED project, DLNC is an effective criterion for the diagnosis of FH. It can be assumed that, in combination with universal FH screening in children, the detection of monogenic FH could be significantly improved and thus the effective primary prevention of early cardiovascular events.

• Klíčová slova
• Dutch Lipid Clinic Network Score, DLNC,
• MeSH
• dospělí MeSH
• familiární kombinovaná hyperlipidemie * diagnóza   genetika   MeSH
• genetické techniky MeSH
• lidé středního věku MeSH
• lidé MeSH
• statistika jako téma MeSH
• ukazatele zdravotního stavu * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

Cieľom príspevku je priblíženie metódy sieťovej analýzy, ktorá sa líši oproti tradičným metódam používaných v psychopatologickom výskume založených na predpoklade latentných premenných. Porucha je podľa klasických prístupov modelovaná ako spoločná príčina (common cause), ktorá je v pozadí (latent variable) pozorovaných symptómov. Z pohľadu sieťovej analýzy sa symptómy duševných porúch navzájom ovplyvňujú a vytvárajú komplexné dynamické siete. Autori na príklade údajov z epidemiologickej štúdie ilustrujú vzťahy medzi symptómami depresie, pričom sa zameriavajú na rôzne miery centrality symptómov a taktiež na ich vzájomné vzťahy. Možné implikácie využitia sieťovej analýzy v psychopatologickom výskume sú diskutované.

The aim of the article is to introduce the network analysis as a different method compared to traditional methods used in psychopathological research which are based on the assumption of latent variables. In latent variable approach, disorders are modeled as a common cause of observed symptoms. From network analyses perspective, symptoms of mental disorders mutually influence each other and form complex dynamic networks. Authors presented results of network analysis based on data from epidemiological study. Associations between depression symptoms are presented. Measures of centrality of symptoms are stressed and discussed. Possible implications of using of network analysis in psychopathological research are discussed.

• Klíčová slova
• síťová analýza,
• MeSH
• depresivní poruchy * diagnóza   psychologie   MeSH
• dospělí MeSH
• interpretace statistických dat MeSH
• kauzalita MeSH
• lidé středního věku MeSH
• lidé MeSH
• psychiatrické posuzovací škály MeSH
• psychologické modely MeSH
• psychometrie MeSH
• senioři MeSH
• určení symptomu * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH

Default mode síť (DMN) je organizovaná síť mozkových oblastí zapojených do mozkové aktivity pozorovatelné v klidovém stavu. Při cíleném provádění experimentální kognitivní úlohy v průběhu vyšetření funkční magnetickou rezonancí (fMR) se tyto oblasti projevují jako tzv. deaktivace. Hlavními oblastmi zapojenými do této sítě jsou ventromediální prefrontální kortex/přední cingulum, zadní cingulum/precuneus a gyrus angularis/lobulus parietalis inferior. Pro sledování DMN u naší skupiny 10 zdravých dobrovolníků jsme použili jednak zobrazení deaktivace ve vztahu k paměťovému úkolu a korelační analýzu (tzv. seed funkční konektivitu) vycházející z oblasti zájmu přestavující cluster zadní cingulum/precuneus, jednak zobrazení pomocí analýzy nezávislých komponent (independent component analysis, ICA). Dále byly provedeny korelace fMR signálu s výkonem ve vizuálním prostorově paměťovém testu a v Addenbrookském kognitivním testu (ACE), konkrétně se subskóry verbální fluence (VFT) a paměť. Zobrazení DMN pomocí seed funkční konektivity významně lépe korelovalo s výsledkem ICA analýzy než s obrazem prosté deaktivace. Dále jsme našli korelaci mezi MR signálem v clusteru zadní cingulum/precuneus a kognitivním výkonem ve VFT.

The default mode network (DMN) is an organized network of brain structures involved in brain activity that may be observed in the resting state. In the course of the performance of an experimental cognitive task during functional MRI examination (fMR), these regions manifest as ?deactivations?. The main areas involved in this network are the ventromedial prefrontal cortex/anterior cingulate cortex, posterior cingulate cortex/precuneus and angular gyrus/inferior parietal cortex. In a group of 10 healthy volunteers we employed the following approaches to the detection of DMN: deactivations related to a visual spatial memory task; seed functional connectivity from the specific region of interest (cluster posterior cingulate cortex/precuneus); and independent component analysis (ICA). We then sought correlations between the MRI signal and the results of the visuo-spatial memory task and the Addenbrook cognitive examination (ACE), in concrete terms with the ACE verbal fluency subscore (VFT), and memory. The ICA approach revealed a higher correlation rate with the results from functional connectivity compared with pure deactivation mapping. We found correlation between MRI signal in the cluster posterior cingulate cortex/precuneus and VFT performance.

• Klíčová slova
• resting state, deaktivace, kognitivní úkol, funkční magnetická rezonance,
• MeSH
• behaviorální výzkum metody   MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   využití   MeSH
• nervová síť fyziologie   MeSH
• plnění a analýza úkolů MeSH
• zdraví MeSH
• Check Tag
• lidé MeSH

BACKGROUND: Laser therapy has emerged as a promising treatment modality for improving the appearance and symptoms associated with hypertrophic and keloid scars. In this network meta-analysis, we aimed to evaluate the efficacy of different laser types in treating hypertrophic and keloid scars. METHODS: A comprehensive search of four databases was conducted to identify relevant studies published up until July 2023. Data were extracted from eligible studies and pooled as mean difference (MD) for continuous outcomes and risk ratio (RR) for dichotomous data in a network meta-analysis (NMA) model, using R software. RESULTS: A total of 18 studies, comprising 550 patients, were included in the analysis. Pooling our data showed that fractional carbon dioxide (FCO2) plus 5-fluorouracil (5-FU) was superior to control in terms of Vancouver Scar Scale (VSS), pliability score, and thickness; [MD = - 5.97; 95% CI (- 7.30; - 4.65)], [MD = - 2.68; 95% CI (- 4.03; - 1.33)], [MD = - 2.22; 95% CI (- 3.13; - 1.31)], respectively. However, insignificant difference was observed among FCO2 plus 5-FU compared to control group in terms of erythema, vascularity, redness and perfusion, and pigmentation [MD = - 0.71; 95% CI (- 2.72; 1.30)], [MD = - 0.44; 95% CI (- 1.26; 0.38)], respectively. CONCLUSION: Our NMA found that the FCO2 plus 5-FU was the most effective intervention in decreasing the VSS and thickness, while FCO2 plus CO2 was the most effective intervention in decreasing the pliability score. Further research is needed to determine the optimal laser parameters and long-term efficacy of laser therapy in hypertrophic and keloid scars. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these evidence-based medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

• MeSH
• jizva hypertrofická * diagnóza   terapie   MeSH
• keloid * diagnóza   terapie   MeSH
• laserová terapie škodlivé účinky   přístrojové vybavení   metody   MeSH
• lidé MeSH
• síťová metaanalýza jako téma MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• systematický přehled MeSH

Importance: Several trials demonstrated the impact of novel agent-based maintenance in newly diagnosed multiple myeloma (NDMM), but there is no current evidence demonstrating the superiority of one regimen over the other, owing to the lack of direct/indirect comparisons. Objective: To analyze and compare the effectiveness of different maintenance regimens in NDMM via a network meta-analysis. Data Sources: We performed 2 independent searches in PubMed and Cochrane databases, and then we identified all the records registered after 1999 and on or before November 20, 2017. Study Selection: By blinded review, we identified prospective phase 3 randomized trials evaluating novel agent-based maintenance in patients with NDMM; the included studies compared at least 2 maintenance approaches; comparators included placebo and no maintenance. From 364 screened records, 11 studies were included. Data Extraction and Synthesis: We followed (independent extraction) the guidelines provided by the PRISMA Report and the EQUATOR Network. The evidence was synthesized using a network meta-analysis (NMA). To allow comparison of all treatments, no maintenance was selected as common comparator and the effect of placebo was assumed to be the same as no treatment. The best option was identified by a Bayesian consistency model based on hazard ratio (HR), 95% credible interval (CrI), probability of being the best treatment (PbBT), and median ranking distribution (MedR). Main Outcomes and Measures: Outcomes of interest were progression-free survival (PFS) and overall survival (OS). Results: Eleven trials and 8 treatments including a total of 5073 participants were included. By PFS analysis, lenalidomide-based regimens (lenalidomide-prednisone, lenalidomide alone) were identified as the most effective options (HR, 0.39 [95% CrI, 0.28-0.53] and 0.47 [95% CrI, 0.39-0.55], respectively; MedR, 1 and 2; overall PbBT, 74%). Four treatments (thalidomide-interferon, thalidomide-bortezomib, bortezomib-prednisone, thalidomide alone) showed an HR in favor of maintenance. By OS analysis, lenalidomide alone was identified as the best option (HR, 0.76; 95% CrI, 0.51-1.16; MedR, 2; PbBT, 38%), followed by bortezomib-thalidomide and bortezomib-prednisone. Similar features were noticed in the restricted network including transplant trials, in the sensitivity analysis, and in most of the prognostic subgroups. Conclusions and Relevance: Based on PFS and OS results of this NMA, lenalidomide maintenance appears to be the best treatment option, by synthesizing the available evidence of novel agent-based maintenance in the past 20 years.

• MeSH
• klinické zkoušky, fáze III jako téma MeSH
• lenalidomid aplikace a dávkování   MeSH
• mnohočetný myelom diagnóza   farmakoterapie   MeSH
• přežití bez známek nemoci MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   MeSH
• randomizované kontrolované studie jako téma MeSH
• síťová metaanalýza jako téma MeSH
• udržovací chemoterapie metody   MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• systematický přehled MeSH

Automated analysis of small and optically variable plant organs, such as grain spikes, is highly demanded in quantitative plant science and breeding. Previous works primarily focused on the detection of prominently visible spikes emerging on the top of the grain plants growing in field conditions. However, accurate and automated analysis of all fully and partially visible spikes in greenhouse images renders a more challenging task, which was rarely addressed in the past. A particular difficulty for image analysis is represented by leaf-covered, occluded but also matured spikes of bushy crop cultivars that can hardly be differentiated from the remaining plant biomass. To address the challenge of automated analysis of arbitrary spike phenotypes in different grain crops and optical setups, here, we performed a comparative investigation of six neural network methods for pattern detection and segmentation in RGB images, including five deep and one shallow neural network. Our experimental results demonstrate that advanced deep learning methods show superior performance, achieving over 90% accuracy by detection and segmentation of spikes in wheat, barley and rye images. However, spike detection in new crop phenotypes can be performed more accurately than segmentation. Furthermore, the detection and segmentation of matured, partially visible and occluded spikes, for which phenotypes substantially deviate from the training set of regular spikes, still represent a challenge to neural network models trained on a limited set of a few hundreds of manually labeled ground truth images. Limitations and further potential improvements of the presented algorithmic frameworks for spike image analysis are discussed. Besides theoretical and experimental investigations, we provide a GUI-based tool (SpikeApp), which shows the application of pre-trained neural networks to fully automate spike detection, segmentation and phenotyping in images of greenhouse-grown plants.

• MeSH
• jedlá semena MeSH
• listy rostlin MeSH
• neuronové sítě * MeSH
• počítačové zpracování obrazu MeSH
• šlechtění rostlin * MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• fenotyp MeSH
• klasifikace metody   MeSH
• neuronové sítě MeSH
• numerická analýza pomocí počítače přístrojové vybavení   MeSH
• Oxalobacteraceae klasifikace   MeSH
• programovací jazyk MeSH
• Publikační typ
• srovnávací studie MeSH

CONTEXT: Adjuvant immune checkpoint inhibitors (ICIs) have recently emerged as guideline-recommended treatments of high-risk muscle-invasive urothelial carcinoma (MIUC). However, there is limited evidence regarding the optimal candidates and the differential efficacy of adjuvant ICI regimens. OBJECTIVE: To synthesize and compare the efficacy and safety of adjuvant ICIs for high-risk MIUC using updated data from phase III randomized controlled trials. EVIDENCE ACQUISITION: In April 2024, three databases were searched for eligible randomized controlled trials that evaluated oncologic outcomes in patients with MIUC treated with adjuvant ICIs. Pairwise meta-analysis (MA) and network meta-analyses were performed to compare the hazard ratios of oncological outcomes, including disease-free survival (DFS), overall survival (OS), and adverse events. Subgroup analyses were conducted on the basis of predefined clinicopathological features. EVIDENCE SYNTHESIS: Three randomized controlled trials that assessed the efficacy of adjuvant nivolumab, pembrolizumab, and atezolizumab were included in the MAs and network meta-analyses groups. Pairwise MAs showed that treatment with adjuvant ICIs significantly improved DFS [hazards ratio: 0.77, 95% confidence interval (CI): 0.66-0.90] as well as OS (hazards ratio: 0.87, 95% CI 0.76-1.00) in patients with MIUC compared with in the placebo/observation group. The DFS benefit was prominent in patients who underwent neoadjuvant chemotherapy (P = 0.041) and in those with bladder cancer (P = 0.013) but did not differ across programmed death-ligand 1 and lymph node status. Adjuvant ICI therapy was associated with increased risk of any (OR: 2.98, 95% CI 2.06-4.33) and severe adverse events (OR: 1.78, 95% CI 1.49-2.13). The treatment rankings revealed that pembrolizumab for DFS (84%) and nivolumab for OS (93%) had the highest likelihood of improving survival. CONCLUSIONS: Our analyses demonstrated the DFS and OS benefits of adjuvant ICIs for high-risk MIUC. Furthermore, patients with bladder cancer who underwent neoadjuvant chemotherapy appeared to be the optimal candidates for adjuvant ICIs regarding prolonged DFS. Adjuvant ICIs are the standard of care for high-risk MIUC, and differential clinical behaviors and efficacy will enrich clinical decision-making.

• MeSH
• adjuvantní chemoterapie metody   MeSH
• inhibitory kontrolních bodů * terapeutické užití   farmakologie   MeSH
• invazivní růst nádoru MeSH
• karcinom z přechodných buněk farmakoterapie   patologie   MeSH
• lidé MeSH
• nádory močového měchýře farmakoterapie   patologie   MeSH
• síťová metaanalýza jako téma MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• systematický přehled MeSH

Recent studies highlighted genetic aberrations associated with prognosis in Mantle Cell lymphoma (MCL), yet comprehensive testing is not implemented in clinical routine. We conducted a comprehensive genomic characterization of 180 patients from the European MCL network trials by targeted sequencing of peripheral blood DNA using the EuroClonality(EC)-NDC assay. The IGH::CCND1 fusion was identified in 94% of patients, clonal IGH-V-(D)-J rearrangements in all, and 79% had ≥1 somatic gene mutation. The top mutated genes were ATM, TP53, KMT2D, SAMHD1, BIRC3 and NFKBIE. Copy number variations (CNVs) were detected in 83% of patients with RB1, ATM, CDKN2A/B and TP53 being the most frequently deleted and KLF2, CXCR4, CCND1, MAP2K1 and MYC the top amplified genes. CNVs and mutations were more frequently observed in older patients with adverse impact on prognosis. TP53mut, NOTCH1mut, FAT1mut TRAF2del, CDKN2A/Bdel and MAP2K1amp were linked to inferior failure-free (FFS) and overall survival (OS), while TRAF2mut, EGR2del and BCL2amp related to inferior OS only. Genetic complexity (≥3 CNVs) observed in 51% of analysed patients was significantly associated with impaired FFS and OS. We demonstrate that targeted sequencing from peripheral blood and bone marrow reliably detects diagnostically and prognostically important genetic factors in MCL patients, facilitating genetic characterization in clinical routine.

• MeSH
• dospělí MeSH
• genetické testování metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfom z plášťových buněk * genetika   mortalita   MeSH
• mutace * MeSH
• nádorové biomarkery genetika   MeSH
• prognóza MeSH
• rizikové faktory MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• variabilita počtu kopií segmentů DNA * MeSH
• vysoce účinné nukleotidové sekvenování metody   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