Juxtaglomerular cell tumor (JxGCT) is a rare type of renal neoplasm demonstrating morphologic overlap with some mesenchymal tumors such as glomus tumor (GT) and solitary fibrous tumor (SFT). Its oncogenic drivers remain elusive, and only a few cases have been analyzed with modern molecular techniques. In prior studies, loss of chromosomes 9 and 11 appeared to be recurrent. Recently, whole-genome analysis identified alterations involving genes of MAPK-RAS pathway in a subset, but no major pathogenic alterations have been discovered in prior whole transcriptome analyses. Considering the limited understanding of the molecular features of JxGCTs, we sought to assess a collaborative series with a multiomic approach to further define the molecular characteristics of this entity. Fifteen tumors morphologically compatible with JxGCTs were evaluated using immunohistochemistry for renin, single-nucleotide polymorphism array (SNP), low-pass whole-genome sequencing, and RNA sequencing (fusion assay). In addition, methylation analysis comparing JxGCT, GT, and SFT was performed. All cases tested with renin (n=11) showed positive staining. Multiple chromosomal abnormalities were identified in all cases analyzed (n=8), with gains of chromosomes 1p, 10, 17, and 19 and losses of chromosomes 9, 11, and 21 being recurrent. A pathogenic HRAS mutation was identified in one case as part of the SNP array analysis. Thirteen tumors were analyzed by RNA sequencing, with 2 revealing in-frame gene fusions: TFG::GPR128 (interpreted as stochastic) and NAB2::STAT6 . The latter, originally diagnosed as JxGCT, was reclassified as SFT and excluded from the series. No fusions were detected in the remaining 11 cases; of note, no case harbored NOTCH fusions previously described in GT. Genomic methylation analysis showed that JxGCT, GT, and SFT form separate clusters, confirming that JxGCT represents a distinct entity (ie, different from GT). The results of our study show that JxGCTs are a distinct tumor type with a recurrent pattern of chromosomal imbalances that may play a role in oncogenesis, with MAPK-RAS pathway activation being likely a driver in a relatively small subset.

• MeSH
• dospělí MeSH
• epigeneze genetická MeSH
• epigenomika MeSH
• fúze genů * MeSH
• genetická predispozice k nemoci MeSH
• genomika MeSH
• imunohistochemie MeSH
• jednonukleotidový polymorfismus MeSH
• juxtaglomerulární aparát patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• metylace DNA MeSH
• nádorové biomarkery * genetika   MeSH
• nádory ledvin * genetika   patologie   chemie   MeSH
• sekvenování celého genomu 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
• multicentrická studie MeSH

Several studies have demonstrated the positive effects of mindfulness and self-compassion on employee well-being, mental health, and resilience. The objective of this observational study was to explore the mutual relationships among the dimensions of self-compassion and particular characteristics of work-related well-being: work engagement, workaholism (excessive and compulsive work), and job boredom in a population of early career workers. In this quantitative cross-sectional study, 286 master's students with proper working experience were examined; results from 244 respondents were suitable for further data analysis. The Self-compassion Scale, Utrecht Work Engagement Scale, Dutch Work Addiction Scale, and Dutch Boredom Scale were administered. Spearman's rank correlation analysis found a positive relationship between work engagement and excessive work and a negative relationship between work engagement and job boredom. Furthermore, a positive correlation was identified between compulsive work and negative subscales of the Self-compassion Scale. Structural equation modeling indicated that workaholism was a mediator between the negative scales of self-compassion and work engagement with job boredom. In conclusion, the negative aspects of self-compassion (isolation, self-judgment, and over-identification) are related to the symptoms of workaholism in young workers. Self-compassion-based interventions could help prevent the negative effects of compulsive and excessive work. Possible age-related explanations for the positive relationship between work engagement and workaholism (i.e., excessive work) are discussed. Future longitudinal research could identify the dynamics of the connection between self-compassion and work-related well-being from a long-term perspective.

• Publikační typ
• časopisecké články MeSH

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described. We analyzed clinical, biochemical, and molecular genetic data of 222 patients from eight European centers and characterized the natural course of patients with CI. Fifty-seven patients (45 children) presented with CI, of whom 24 died (median age 21 months, standard deviation 49.8). Pericardial effusion was the most frequent manifestation (55.4%), occurring mostly within the first 6 months of life. The most common pathogenic variants in patients with CI were p.(Arg141His) in 74%, followed by p.(Val231Met) in 36%, which is 3.5 times higher than in PMM2-CDG patients without CI (p < 0.0001). Twenty-one out of 36 patients with p.(Val231Met) had CI; among them, 15 died, compared to 33 out of 166 patients without p.(Val231Met) who had CI (p < 0.0001). Nine out of 33 patients died (p = 0.0015), indicating greater clinical severity. Furthermore, the p.(Val231Met) variant is predominant in Eastern Europe, suggesting a founder effect. Cardiac complications in PMM2-CDG patients are common and serious. The variant p.(Val231Met) profoundly influences the extent of CI and mortality rates. Therefore, we recommend cardiac surveillance be included in the follow-up protocols for PMM2-CDG.

• MeSH
• dítě MeSH
• fenotyp * MeSH
• fosfotransferasy (fosfomutasy) * genetika   nedostatek   MeSH
• genetické asociační studie MeSH
• kardiomyopatie genetika   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• stupeň závažnosti nemoci MeSH
• vrozené poruchy glykosylace * genetika   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: Endoscopic retrograde cholangiopancreatography (ERCP) still has a relatively high complication rate, underscoring the importance of high-quality training. Despite existing guidelines, real-world data on training conditions remain limited. This pan-European survey aims to systematically explore the perceptions surrounding ERCP training. METHODS: A survey was distributed through the friends of United European Gastroenterology (UEG) Young Talent Group network to physicians working in a UEG member or associated states who regularly performed ERCPs. RESULTS: Of 1035 respondents from 35 countries, 649 were eligible for analysis: 228 trainees, 225 trainers, and 196 individuals who regularly performed ERCP but were neither trainees nor trainers. The mean age was 43 years, with 72.1% identifying as male, 27.6% as female, and 0.3% as non-binary. The majority (80.1%) agreed that a structured training regimen is desirable. However, only 13.7% of trainees and 28.4% of trainers reported having such a structured program in their institutions. Most respondents (79.7%) supported the concept of concentrating training in centers meeting specific quality metrics, with 64.1% suggesting a threshold of 200 annual ERCPs as a prerequisite. This threshold revealed that 36.4% of trainees pursued training in lower-volume centers performing <200 ERCPs annually. As many as 70.1% of trainees performed <50 annual ERCPs, whereas only 5.0% of trainers performed <50 ERCPs annually. A low individual trainee caseload (<50 ERCPs annually) was more common in lower-volume centers than in higher-volume centers (82.9% vs. 63.4%). CONCLUSIONS: The first pan-European survey investigating ERCP training conditions reveals strong support for structured training and the concentration of training efforts within centers meeting specific quality metrics. Furthermore, this survey exposes the low availability of structured training programs with many trainees practicing at lower-volume centers and 71% of all trainees having little hands-on exposure. These data should motivate to standardize ERCP training conditions further and ultimately improve patient care throughout Europe.

• MeSH
• cholangiopankreatografie endoskopická retrográdní * normy   škodlivé účinky   MeSH
• dospělí MeSH
• gastroenterologie * výchova   MeSH
• klinické kompetence normy   MeSH
• lidé středního věku MeSH
• lidé MeSH
• průzkumy a dotazníky statistika a číselné údaje   MeSH
• studium lékařství specializační postgraduální * normy   metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: Diffuse midline glioma, H3 K27-altered (DMG) is a fatal tumour that arises in the midline structures of the brain. When located in the pons, it is more commonly referred to as diffuse intrinsic pontine glioma (DIPG). DMG/DIPG is usually diagnosed when children are < 10 years, and it has a median overall survival of < 12 months after diagnosis. Radiological imaging is still the gold standard for DIPG diagnosis while the use of biopsy procedures led to our knowledge on its biology, such as with the identification of the canonical histone H3K27M mutation. However, the need to improve survival encourages the development of non-invasive, fast and inexpensive assays on biofluids for optimizing molecular diagnoses in DMG/DIPG. Here, we propose a rapid, new, imaging and epigenetics-based approach to diagnose DMG/DIPG in the plasma of paediatric patients. METHODS: A total of 20 healthy children (mean age: 10.5 years) and 24 children diagnosed with DMG/DIPG (mean age: 8.5 years) were recruited. Individual histones (H2A, H2B, H3, H4, macroH2A1.1 and macroH2A1.2), histone dimers and nucleosomes were assayed in biofluids by means of a new advanced flow cytometry ImageStream(X)-adapted method. RESULTS: We report a significant increase in circulating histone dimers and tetramers (macroH2A1.1/H2B versus control: p value < 0.0001; macroH2A1.2/H2B versus control: p value < 0.0001; H2A/H2B versus control: p value < 0.0001; H3/H4 versus control: p value = 0.008; H2A/H2B/H3/H4 versus control: p value < 0.0001) and a significant downregulation of individual histones (H2B versus control: p value < 0.0001; H3 versus control: p value < 0.0001; H4 versus control: p value < 0.0001). Moreover, histones were also detectable in the cerebrospinal fluid (CSF) of patients with DMG/DIPG and in the supernatant of SF8628, OPBG-DIPG002 and OPBG-DIPG004 DMG/DIPG cell lines, with patterns mostly similar to each other, but distinct compared to blood plasma. CONCLUSIONS: In summary, we identified circulating histone signatures able to detect the presence of DMG/DIPG in biofluids of children, using a rapid and non-invasive ImageStream(X)-based imaging technology, which may improve diagnosis and benefit the patients.

• MeSH
• difuzní intrinsický pontinní gliom genetika   diagnóza   krev   MeSH
• dítě MeSH
• epigeneze genetická MeSH
• gliom genetika   diagnóza   krev   patologie   diagnostické zobrazování   MeSH
• histony * genetika   metabolismus   krev   MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• nádorové biomarkery krev   MeSH
• nádory mozkového kmene genetika   diagnóza   krev   diagnostické zobrazování   patologie   metabolismus   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVE: To evaluate the role of clinical exchange programs in postgraduate obgyn training using the International Federation of Gynecology and Obstetrics (FIGO)-World Association of Trainees in Obstetrics and Gynecology (WATOG) One World Exchange (OWE), a clinical exchange program held in France in October 2023, as a case-study. METHODS: This was a cross-sectional study. A 31-item structured questionnaire designed with Google Forms was electronically distributed to the 51 obgyn postgraduate trainees (OWE fellows) who participated in the OWE, to collect information about the exchange. Collected data was analyzed using IBM Statistical Product and Service Solutions (SPSS) Statistics for Windows. RESULTS: The survey response rate was 68.6%. The mean age of the respondents was 33.0 ± 4.0 years. Majority of the them were females (26, 74.3%), married (19, 54.3%), at least in their third year of training (30, 85.7%) and from Africa (11, 31.4%). During the period of the exchange program, fellows observed various obstetric and gynecologic procedures, including open and minimal access procedures, with more than one-fifth (8, 22.9%) of them reporting that they were allowed to assist in some of these procedures. The fellows noted salient differences in practice between their exchange hospitals and their home countries. An overwhelming majority (30, 85.7%) of the fellows believed the OWE was beneficial and would positively impact their clinical practices back in their home countries. CONCLUSION: Clinical exchange programs like the OWE provide valuable benefits in improving the clinical knowledge and skills of postgraduate obgyn trainees.

• MeSH
• dospělí MeSH
• gynekologie * výchova   MeSH
• lidé MeSH
• mezinárodní vzdělávací výměna * MeSH
• porodnictví * výchova   MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• společnosti lékařské MeSH
• studium lékařství specializační postgraduální * metody   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Francie MeSH

This research aims to analyse the personality traits of social workers in different areas of social work using the NEO-FFI questionnaire, one of the most widely used instruments for measuring the five main personality dimensions. Although this instrument is commonly used in psychological research, no studies are available to date that examine the personality structure of social workers using the NEO-FFI. This study, therefore, represents an innovative approach to understanding how personality traits (neuroticism, extraversion, openness to experience, agreeableness, and conscientiousness) influence performance and satisfaction in this demanding profession. The results show statistically significant differences in personality traits between social workers and the general population, while the type of social service provided and the age group of clients do not have a statistically significant effect on these results. This study provides new insights into the personality profile of social workers, which may have practical implications for selection, education, and professional development in this field.

Cieľom štúdie je overenie psychometrických vlastností škály CAV, určenej na mapovanie skúseností s kyberagresiou a kyberviktimizáciou. Nástroj je tvorený 24 položkami rozdelenými do dvoch subškál: Kyberagresia (CAV-CB; 12 položiek) a Kyberviktimizácia (CAV-CV; 12 položiek). Výskumný súbor pozostával z N = 5 159 respondentov/tiek vo veku od 14 do 18 rokov (M = 16,06; SD = 1,159), pričom 51,3 % tvorili chlapci a 48,7 % dievčatá. Na overenie faktorovej štruktúry bola použitá konfirmačná faktorová analýza (CFA), aplikovaná metódou DWLS s robustnou korekciou, pričom posudzované boli štandardné indexy zhody. Na základe výsledkov analýz bol podporený dvojfaktorový model: χ2 (251) = 530,064; p < 0,001; CFI = 0,993; TLI = 0,992; RMSEA = 0,016 (90% CI: 0,014 – 0,018). Analýza invariancie merania bola vykonaná vzhľadom na rod a vek, pričom testované boli konfigurálna, metrická, skalárna a striktná invariancia. Hodnoty testov invariancie merania pri porovnaní podľa rodu a veku boli konzistentné so všetkými modelmi invariancie, čo umožňuje porovnávanie skóre medzi skupinami. Reliabilita škály bola hodnotená pomocou Cronbachovho α a McDonaldovho ω, pričom faktory mali uspokojivú vnútornú konzistenciu (CAV-CB: α = 0,907, ω = 0,908; CAV-CV: α = 0,920, ω = 0,921). Kyberagresia signifikantne korelovala s kyberviktimizáciou (r = 0,699; p < 0,001), čo naznačuje vzájomnú súvislosť medzi oboma faktormi. Percentilová distribúcia skóre v populácii dospievajúcich umožnila stanoviť orientačné normo-referenčné hranice pre subškály CAV-CB a CAV-CV, na základe ktorých bola vytvorená trojstupňová klasifikácia úrovne expozície určená na výskumné a preventívne účely.

The aim of this study was to evaluate the psychometric properties of the Cyber-Aggression and Cyber- Victimization Scale (CAV), which was developed to assess adolescents’ experiences with cyber-aggression and cyber-victimisation. The instrument consists of 24 items divided into two subscales: Cyber-aggression (CAV-CB; 12 items) and Cyber-victimization (CAV-CV; 12 items). The research sample comprised N = 5,159 adolescents aged 14 to 18 years (M = 16.06; SD = 1.159), with 51.3%boys and 48.7%girls. Confirmatory factor analysis (CFA) was used to assess the factor structure, employing the DWLS method with robust corrections and evaluating standard goodness-of-fit indices. The analysis supported a two-factor model: χ2 (251) = 530.064; p < .001; CFI = .993; TLI = .992; RMSEA = .016 (90% CI: .014–.018). Measurement invariance was tested across gender and age groups, including configural, metric, scalar, and strict invariance. Invariance testing results indicated acceptable fit for all models, supporting the comparability of scores across groups. Reliability was assessed using Cronbach’s alpha and McDonald’s omega, both indicating satisfactory internal consistency (CAV-CB: α = .907, ω = .908; CAV-CV: α = .920, ω = .921). Cyberaggression showed a significant correlation with cybervictimization (r = .699; p < .001), indicating a substantial relationship between the two constructs. The percentile distribution of scores in the adolescent population made it possible to establish provisional norm-referenced cut-off points for the CAV-CB and CAV- CV subscales, based on which a three-level classification of exposure was created for research and preventive purposes.

Článek představuje a analyzuje judikaturu Evropského soudu pro lidská práva týkající se asistované reprodukce, pročež vyvozuje právní závěry, resp. důsledky, které z této rozhodovací praxe vyplývají. Zabývá se kupř. udělením souhlasu s umělým oplodněním, anonymním i neanonymním dárcovstvím gamet, přístupem k metodám umělého oplodnění a preimplantační genetické diagnostice, umělému oplodnění post mortem, nakládáním s nadbytečnými embryi pro vědecký výzkum či omezením přístupu k IVF kvůli věku. Z hlediska struktury jsou vždy nejprve představeny skutkové okolnosti jednotlivých případů a následně jejich právní posouzení. Text uzavírá celkové shrnutí právních závěrů.

The article presents and analyzes the case law of the European Court of Human Rights concerning assisted reproduction, with the aim to summarize legal conclusions and identify the implications arising from them. It addresses e.g. consent to artificial insemination, both anonymous and non-anonymous gamete donation, access to assisted reproduction techniques and pre-implantation genetic diagnosis, post mortem fertilization, the use of surplus embryos for scientific research or age-based restrictions on access to IVF. In terms of structure, each case will be introduced with its factual background, followed by an examination of the legal reasoning reached by the Court. The summary of legal conclusions brings the text to a close.

Farmakogenetické (PGx) vyšetření představuje slibný nástroj pro optimalizaci psychiatrické farmakoterapie. Svým potenciálem může přispět ke zvýšení její účinnosti a snížení rizika vzniku nežádoucích účinků. Ekonomická limitace v podobě vyšší ceny vyšetření vyžaduje cílenější výběr pacientů, tento přístup však v praxi zatím chybí. Za tím účelem byl klinickými farmaceutkami v Psychiatrické nemocnici Bohnice vyvinut skórovací systém CYPRI (CYP pharmacogenetic risk score) identifikující pacienty, kteří by mohli mít z PGx vyšetření největší prospěch. Cílem pilotní studie bylo pak zhodnotit účinnost a efektivitu skórovacího systému CYPRI při výběru pacientů pro PGx vyšetření v kontextu následně uskutečněných a klinicky významných změn v jejich medikaci. Do pilotní studie, která probíhala mezi lednem 2024 a březnem 2025, bylo zařazeno 23 pacientů (průměrný věk 38 let, 74 % mužů). Vzorek zahrnoval hospitalizované pacienty s širokým spektrem psychiatrických diagnóz, včetně schizofrenie, bipolární a schizoafektivní poruchy, deprese i úzkostných poruch. Pacienti, u kterých bylo PGx indikováno lékařem a/nebo klinickým farmaceutem a kteří v CYPRI skórovali alespoň jedním bodem, podstoupili po souhlasu PGx vyšetření. Následně u nich byla provedena analýza dopadu výsledku tohoto vyšetření na úpravy v medikaci. Byla zjištěna statisticky významná korelace (t = 2,733; p = 0,0063) mezi hodnotami CYPRI skóre a následnými klinicky významnými změnami v medikaci. Pacienti s vysokým CYPRI skóre (> 3) také vyžadovali statisticky významně více úprav medikace a monitorace než pacienti s nízkým skóre (≤ 3) (p < 0,05). Tyto výsledky potvrzují, že CYPRI skóre by mohlo v budoucnu sloužit jako strukturovaný a nákladově efektivní nástroj pro výběr vhodných kandidátů na PGx vyšetření, zejména v oboru psychiatrie. Širší použití CYPRI skóre v praxi prozatím limituje, i přes slibné výsledky z pilotní studie, relativně malá velikost vzorku. Pro potvrzení těchto výstupů je zapotřebí další výzkum na větších kohortách.

Pharmacogenetic (PGx) testing is a promising tool for optimizing psychiatric pharmacotherapy by improving its effectiveness and reducing the risk of adverse effects. However, its higher cost necessitates a more selective approach to patient screening, which is currently lacking in clinical practice. To address this gap, clinical pharmacists at Bohnice Psychiatric Hospital developed a CYPRI (CYP Pharmacogenetic Risk Score) scoring system to identify patients who would benefit the most from PGx testing. This pilot study aimed to assess the effectiveness and efficiency of the CYPRI scoring system in selecting patients for PGx testing, focusing on clinically significant medication adjustments that followed. Our study was conducted from January 2024 to March 2025 and included 23 hospitalized patients (mean age: 38 years; 74% male) with a range of psychiatric diagnoses, including schizophrenia, bipolar disorder, schizoaffective disorder, depression, and anxiety disorders. Pharmacogenetic testing was offered to patients following an initial indication by a psychiatrist and/or clinical pharmacist, provided they scored at least one point on the CYPRI scale. Upon providing an informed consent, they underwent the PGx testing. The resulting impact on medication adjustments was analyzed. A statistically significant correlation was found between the CYPRI scores and clinically significant medication changes (t = 2.733; p = 0.0063). Additionally, patients with high CYPRI scores (> 3) required significantly more medication adjustments and monitoring than those with low scores (≤ 3) (p < 0.05). These findings suggest that the CYPRI score could serve as a structured and cost-effective tool for identifying suitable candidates for PGx testing, especially in psychiatry. Despite these promising results, the relatively small sample size remains a limitation for the broader implementation of the CYPRI score. Further research with larger cohorts is needed to validate these findings.