Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.gov.NCT00600860). Unsupervised clustering analyses identified six clusters based on genetic profiling that concentrate into four clusters on the basis of genome-wide methylation profiling with significant overlap between the two clustering modes. The four methylation clusters showed distinct clinical and genetic features and distinct methylation landscape. All clusters shared hypermethylated enhancers enriched in binding motifs for ETS and bZIP (C/EBP) transcription factor families, involved in the regulation of myeloid cell differentiation. By contrast, one cluster gathering patients with early leukemic evolution exhibited a specific pattern of hypermethylated promoters and, distinctly from other clusters, the upregulation of AP-1 complex members FOS/FOSL2 together with the absence of hypermethylation of their binding motif at target gene enhancers, which is of relevance for leukemic initiation. Among MDS patients with lower-risk IPSS-M, this cluster displayed a significantly inferior overall survival (p < 0.0001). Our study showed that genetic and DNA methylation features of LR-MDS at early stages may refine risk stratification, therefore offering the frame for a precocious therapeutic intervention.

• Publikační typ
• časopisecké články MeSH

• MeSH
• brýle MeSH
• dítě * MeSH
• esotropie chirurgie   diagnóza   klasifikace   terapie   MeSH
• exotropie chirurgie   diagnóza   terapie   MeSH
• hypermetropie diagnóza   terapie   MeSH
• lidé MeSH
• okluze terapeutická metody   MeSH
• předškolní dítě MeSH
• strabismus * chirurgie   diagnóza   terapie   MeSH
• Check Tag
• dítě * MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

INTRODUCTION: Sex influences neurodegeneration, but it has been poorly investigated in dementia with Lewy bodies (DLB). We investigated sex differences in brain atrophy in DLB using magnetic resonance imaging (MRI). METHODS: We included 436 patients from the European-DLB consortium and the Mayo Clinic. Sex differences and sex-by-age interactions were assessed through visual atrophy rating scales (n = 327; 73 ± 8 years, 62% males) and automated estimations of regional gray matter volume and cortical thickness (n = 165; 69 ± 9 years, 72% males). RESULTS: We found a higher likelihood of frontal atrophy and smaller volumes in six cortical regions in males and thinner olfactory cortices in females. There were significant sex-by-age interactions in volume (six regions) and cortical thickness (seven regions) across the entire cortex. DISCUSSION: We demonstrate that males have more widespread cortical atrophy at younger ages, but differences tend to disappear with increasing age, with males and females converging around the age of 75. HIGHLIGHTS: Male DLB patients had higher odds for frontal atrophy on radiological visual rating scales. Male DLB patients displayed a widespread pattern of cortical gray matter alterations on automated methods. Sex differences in gray matter measures in DLB tended to disappear with increasing age.

• MeSH
• Alzheimerova nemoc * patologie   MeSH
• atrofie patologie   MeSH
• demence s Lewyho tělísky * diagnostické zobrazování   patologie   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mozková kůra patologie   MeSH
• pohlavní dimorfismus MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

A doctoral dissertation that focuses on biostatistics and quantitative measurements in health care.

• MeSH
• biostatistika MeSH
• hodnotící studie jako téma MeSH
• reprodukovatelnost výsledků MeSH
• statistika jako téma MeSH
• ukazatele zdravotního stavu MeSH
• Publikační typ
• vysokoškolské kvalifikační práce MeSH

• Konspekt
• Statistika
• NLK Obory
• statistika, zdravotnická statistika

Coronavirus Anxiety Scale (CAS) is a widely used measure that captures somatic symptoms of coronavirus-related anxiety. In a large-scale collaboration spanning 60 countries (Ntotal = 21,513), we examined the CAS's measurement invariance and assessed the convergent validity of CAS scores in relation to the fear of COVID-19 (FCV-19S) and the satisfaction with life (SWLS-3) scales. We utilized both conventional exact invariance tests and alignment procedures, with results revealing that the single-factor model fit the data well in almost all countries. Partial scalar invariance was supported in a subset of 56 countries. To ensure the robustness of results, given the unbalanced samples, we employed resampling techniques both with and without replacement and found the results were more stable in larger samples. The alignment procedure demonstrated a high degree of measurement invariance with 9% of the parameters exhibiting noninvariance. We also conducted simulations of alignment using the parameters estimated in the current model. Findings demonstrated reliability of the means but indicated challenges in estimating the latent variances. Strong positive correlations between CAS and FCV-19S estimated with all three different approaches were found in most countries. Correlations of CAS and SWLS-3 were weak and negative but significantly differed from zero in several countries. Overall, the study provided support for the measurement invariance of the CAS and offered evidence of its convergent validity while also highlighting issues with variance estimation. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

• MeSH
• COVID-19 * diagnóza   MeSH
• lidé MeSH
• psychometrie metody   MeSH
• reprodukovatelnost výsledků MeSH
• strach MeSH
• úzkost * diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

The p53 family of proteins evolved from a common ancestor into three separate genes encoding proteins that act as transcription factors with distinct cellular roles. Isoforms of each member that lack specific regions or domains are suggested to result from alternative transcription start sites, alternative splicing or alternative translation initiation, and have the potential to exponentially increase the functional repertoire of each gene. However, evidence supporting the presence of individual protein variants at functional levels is often limited and is inferred by mRNA detection using highly sensitive amplification techniques. We provide a critical appraisal of the current evidence for the origins, expression, functions and regulation of p53-family isoforms. We conclude that despite the wealth of publications, several putative isoforms remain poorly established. Future research with improved technical approaches and the generation of isoform-specific protein detection reagents is required to establish the physiological relevance of p53-family isoforms in health and disease. In addition, our analyses suggest that p53-family variants evolved partly through convergent rather than divergent evolution from the ancestral gene.

• MeSH
• alternativní sestřih * MeSH
• lidé MeSH
• messenger RNA metabolismus   genetika   MeSH
• molekulární evoluce MeSH
• nádorový supresorový protein p53 * metabolismus   genetika   MeSH
• počátek transkripce MeSH
• protein - isoformy * genetika   metabolismus   MeSH
• regulace genové exprese MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Love is a phenomenon that occurs across the world and affects many aspects of human life, including the choice of, and process of bonding with, a romantic partner. Thus, developing a reliable and valid measure of love experiences is crucial. One of the most popular tools to quantify love is Sternberg's 45-item Triangular Love Scale (TLS-45), which measures three love components: intimacy, passion, and commitment. However, our literature review reveals that most studies (64%) use a broad variety of shortened versions of the TLS-45. Here, aiming to achieve scientific consensus and improve the reliability, comparability, and generalizability of results across studies, we developed a short version of the scale-the TLS-15-comprised of 15 items with 5-point, rather than 9-point, response scales. In Study 1 (N = 7,332), we re-analyzed secondary data from a large-scale multinational study that validated the original TLS-45 to establish whether the scale could be truncated. In Study 2 (N = 307), we provided evidence for the three-factor structure of the TLS-15 and its reliability. Study 3 (N = 413) confirmed convergent validity and test-retest stability of the TLS-15. Study 4 (N = 60,311) presented a large-scale validation across 37 linguistic versions of the TLS-15 on a cross-cultural sample spanning every continent of the globe. The overall results provide support for the reliability, validity, and cross-cultural invariance of the TLS-15, which can be used as a measure of love components-either separately or jointly as a three-factor measure.

• MeSH
• jazyk (prostředek komunikace) MeSH
• láska * MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• psychometrie MeSH
• reprodukovatelnost výsledků MeSH
• sexuální chování * MeSH
• sexuální partneři MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

BACKGROUND: Medication non-adherence is a common issue in chronic illness. The World Health Organization has recognized a need for a valid and reliable method of measuring adherence to understand and mitigate non-adherence. This study aimed to psychometrically evaluate the English version of the Adelphi Adherence Questionnaire (ADAQ©), a questionnaire designed to assess patient-reported medication adherence across multiple therapy areas, in patients with Osteoarthritis (OA). METHODOLOGY: Data from the Adelphi OA Disease Specific ProgrammeTM, a survey of physicians and their consulting adult patients with OA conducted in the United States, November 2020 to March 2021, was used to assess the psychometric properties of the ADAQ. Patients completed the ADAQ, Adherence to Refills and Medication Scale (ARMS), Western Ontario and McMaster Universities Arthritis Index (WOMAC), and EQ-5D-3L. The measurement model of the 13-item ADAQ was assessed and refined using latent variable modelling (Multiple Indicator Multiple Cause, confirmatory and exploratory factor analyses, item response theory, Mokken scaling, and bifactor analyses). Correlational analyses (Spearman's rank and polyserial as appropriate) with ARMS, WOMAC, and EQ-5D-3L scores assessed construct validity. Anchor- and distribution-based analyses were performed to estimate between-group clinically important differences (CID). RESULTS: Overall, 723 patients were included in this analysis (54.5% female, 69.0% aged ≥ 60). Latent variable modelling indicated a unidimensional reflective model was appropriate, with a bifactor model confirming an 11-item essentially unidimensional score. Items 12 and 13 were excluded from scoring as they measured a different concept. The ADAQ had high internal reliability with omega hierarchical and Cronbach's alpha coefficients of 0.89 and 0.97, respectively. Convergent validity was supported by moderate correlations with items of the ARMS, and physician-reported adherence and compliance. Mean differences in ADAQ score between high and low adherence groups yielded CID estimates between 0.49 and 1.05 points, with a correlation-weighted average of 0.81 points. CONCLUSION: This scoring model showed strong construct validity and internal consistency reliability when assessing medication adherence in OA. Future work should focus on confirming validity across a range of disease areas.

• MeSH
• adherence k farmakoterapii * psychologie   MeSH
• dospělí MeSH
• hodnocení adherence k farmakoterapii * MeSH
• lidé středního věku MeSH
• lidé MeSH
• osteoartróza * farmakoterapie   psychologie   MeSH
• průzkumy a dotazníky MeSH
• psychometrie * metody   MeSH
• reprodukovatelnost výsledků MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Spojené státy americké MeSH

• Klíčová slova
• akomodační konvergence,
• MeSH
• akomodace oka MeSH
• lidé MeSH
• oční konvergence MeSH
• strabismus * diagnóza   MeSH
• výzkum MeSH
• zrakové testy MeSH
• Check Tag
• lidé MeSH

Práce seznamuje čtenáře se souhrnem aktuálních pokroků ve vývoji a používání komplexních systémů využívajících umělou inteligenci (AI) v neurooftalmologii. Cílem následujícího článku je představit principy AI a algoritmů, které se aktuálně již využívají nebo jsou dosud ve stavu hodnocení nebo validace v prostředí neurooftalmologie. Pro účely tohoto textu byla provedena literární rešerše zaměřená na vyhledání specifických klíčových slov v dostupných vědeckých databázích, a to kumulativně do dubna 2023. Vyvinuté systémy AI napříč neurooftalmologií dosahují v převážné většině vysoké citlivosti, specificity a přesnosti. Jednotlivé systémy AI a algoritmů jsou v článku následně vybrány, zjednodušeně popsány a srov nány. Výsledky jednotlivých studií se podstatně odlišují v závislosti na zvolené metodice, stanovených cílech, velikostí testovacího i hodnoceného souboru a hodnocených parametrech. Ukazuje se, že hodnocení rozličných onemocnění pomocí AI v budoucnu značně urychlí a zefektivní jejich diagnostiku a vykazují tak vysoký potenciál být užitečným nástrojem v klinické praxi i při razantním nárůstu počtu pacientů.

This article presents a summary of recent advances in the development and use of complex systems using artificial intelligence (AI) in neuro-ophthalmology. The aim of the following article is to present the principles of AI and algorithms that are currently being used or are still in the stage of evaluation or validation within the neuro-ophthalmology environment. For the purpose of this text, a literature search was conducted using specific keywords in available scientific databases, cumulatively up to April 2023. The AI systems developed across neuro-ophthalmology mostly achieve high sensitivity, specificity and accuracy. Individual AI systems and algorithms are subsequently selected, simply described and compared in the article. The results of the individual studies differ significantly, depending on the chosen methodology, the set goals, the size of the test, evaluated set, and the evaluated parameters. It has been demonstrated that the evaluation of various diseases will be greatly speeded up with the help of AI and make the diagnosis more efficient in the future, thus showing a high potential to be a useful tool in clinical practice even with a significant increase in the number of patients.

• Klíčová slova
• neurooftalmologie,
• MeSH
• algoritmy MeSH
• diagnostické techniky oftalmologické klasifikace   MeSH
• klinická studie jako téma MeSH
• nemoci zrakového nervu diagnostické zobrazování   diagnóza   klasifikace   MeSH
• nervus opticus diagnostické zobrazování   MeSH
• oftalmologie * metody   přístrojové vybavení   MeSH
• pohyby očí MeSH
• strabismus diagnostické zobrazování   MeSH
• umělá inteligence * klasifikace   MeSH
• Publikační typ
• přehledy MeSH