OBJECTIVE: Research suggests that disrupted interoception contributes to the development and maintenance of functional neurological disorder (FND); however, no functional neuroimaging studies have examined the processing of interoceptive signals in patients with FND. METHODS: The authors examined univariate and multivariate functional MRI neural responses of 38 patients with mixed FND and 38 healthy control individuals (HCs) during a task exploring goal-directed attention to cardiac interoception-versus-control (exteroception or rest) conditions. The relationships between interoception-related neural responses, heartbeat-counting accuracy, and interoceptive trait prediction error (ITPE) were also investigated for FND patients. RESULTS: When attention was directed to heartbeat signals versus exteroception or rest tasks, FND patients showed decreased neural activations (and reduced coactivations) in the right anterior insula and bilateral dorsal anterior cingulate cortices (among other areas), compared with HCs. For FND patients, heartbeat-counting accuracy was positively correlated with right anterior insula and ventromedial prefrontal activations during interoception versus rest. Cardiac interoceptive accuracy was also correlated with bilateral dorsal anterior cingulate activations in the interoception-versus-exteroception contrast, and neural activations were correlated with ITPE scores, showing inverse relationships to those observed for heartbeat-counting accuracy. CONCLUSIONS: This study identified state and trait interoceptive disruptions in FND patients. Convergent between- and within-group findings contextualize the pathophysiological role of cingulo-insular (salience network) areas across the spectrum of functional seizures and functional movement disorder. These findings provide a starting point for the future development of comprehensive neurophysiological assessments of interoception for FND patients, features that also warrant research as potential prognostic and monitoring biomarkers.

• MeSH
• dospělí MeSH
• interocepce * fyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mapování mozku MeSH
• mladý dospělý MeSH
• mozek * patofyziologie   diagnostické zobrazování   MeSH
• nemoci nervového systému * patofyziologie   diagnostické zobrazování   MeSH
• pozornost fyziologie   MeSH
• srdeční frekvence fyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

3-methylglutaconic aciduria (3-MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders. Conditions manifesting 3-MGCA are classified into two major categories, primary and secondary. Primary 3-MGCAs involve two inherited enzymatic deficiencies affecting leucine catabolism, whereas secondary 3-MGCAs comprise a larger heterogeneous group of conditions that have in common compromised mitochondrial energy metabolism. Here, we report 3-MGCA in two siblings presenting with sensorineural hearing loss and neurological abnormalities associated with a novel, homozygous missense variant (c.1999C>G, p.Leu667Val) in the YME1L1 gene which encodes a mitochondrial ATP-dependent metalloprotease. We show that the identified variant results in compromised YME1L1 function, as evidenced by abnormal proteolytic processing of substrate proteins, such as OPA1 and PRELID1. Consistent with the aberrant processing of the mitochondrial fusion protein OPA1, we demonstrate enhanced mitochondrial fission and fragmentation of the mitochondrial network in patient-derived fibroblasts. Furthermore, our results indicate that YME1L1L667V is associated with attenuated activity of rate-limiting Krebs cycle enzymes and reduced mitochondrial respiration, which may explain the build-up of 3-methylglutaconic and 3-methylglutaric acid due to the diversion of acetyl-CoA, not efficiently processed in the Krebs cycle, towards the formation of 3-methylglutaconyl-CoA, the precursor of these metabolites. In summary, our findings classify YME1L1 deficiency as a new type of secondary 3-MGCA, thus expanding the genetic landscape and facilitating the diagnosis of inherited metabolic disorders featuring this biochemical phenotype.

• MeSH
• dítě MeSH
• fibroblasty metabolismus   MeSH
• glutaráty MeSH
• lidé MeSH
• metaloendopeptidasy * genetika   metabolismus   MeSH
• missense mutace MeSH
• mitochondriální dynamika MeSH
• mitochondriální proteiny * genetika   MeSH
• mitochondrie metabolismus   MeSH
• percepční nedoslýchavost genetika   MeSH
• sourozenci MeSH
• vrozené poruchy metabolismu * genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Spontánne rozprávanie predstavuje základnú formu komunikácie v rámci každodenných interakcií. U pacientov s afáziou dochádza k oslabeniu rôznych aspektov spontánnej produkcie, pričom miera narušenia koreluje so závažnosťou afázie - od ľahkej cez stredne ťažkú až po ťažkú formu. Doposiaľ však chýbajú detailné poznatky o tom, v ktorých konkrétnych oblastiach spontánnej reči sa tieto rozdiely najviac prejavujú v závislosti od stupňa afázie. Cieľom štúdie je preto komplexne zhodnotiť spontánnu produkciu u pacientov s afáziou a interpretovať zistené rozdiely so zreteľom na závažnosť afázie. Spontánna produkcia je analyzovaná prostredníctvom metodiky Analýzy spontánnej reči (ASpoR), rozšírenej o hodnotenie koherencie a informatívnosti, čím sa dosiahlo komplexnejšie posúdenie schopností pacientov. Výskumnú vzorku tvorí 40 osôb s afáziou, rozdelených na pacientov s ľahkým a stredne ťažkým stupňom afázie. Podľa výsledkov existujú signifikantné rozdiely medzi týmito skupinami v parametroch produktivity (počet správne vyjadrených elementárnych textových jednotiek), chybovosti (celkový počet fonologických chýb a chýb v gramatickej zhode), koherencie (globálnej aj lokálnej) a informatívnosti (počet hlavných konceptov a index jadrového lexikónu). Na základe získaných poznatkov možno konštatovať, že komplexné hodnotenie spontánnej reči predstavuje spoľahlivý indikátor závažnosti afázie, najmä v kontexte vybraných parametrov analýzy

Spontaneous language production represents a fundamental form of communication in everyday interactions. In patients with aphasia, various aspects of spontaneous production are weakened, with the degree of impairment correlating with the severity of aphasia - ranging from mild to moderate to severe forms. However, there is still a lack of detailed knowledge regarding which specific areas of spontaneous speech are most affected depending on the degree of aphasia. The aim of this study is to comprehensively evaluate spontaneous production in patients with aphasia and to interpret the observed differences with respect to the severity of aphasia. Spontaneous production is analysed using the methodology of Spontaneous Speech Analysis (ASpoR), expanded with an assessment of coherence and informativeness, achieving a more comprehensive evaluation of the patient's abilities. The research sample consists of 40 individuals with aphasia, divided into two groups of mild and moderate aphasia. According to the results, significant differences exist between these groups in terms of productivity (the number of correctly expressed elementary text units), error rate (total number of phonological errors and grammatical agreement errors), coherence (both global and local), and informativeness (the number of main concepts and the core lexicon index). Based on the findings, it can be concluded that a comprehensive evaluation of spontaneous speech serves as a reliable indicator of aphasia severity,

• MeSH
• afázie * diagnóza   terapie   MeSH
• komunikační poruchy MeSH
• lidé MeSH
• měření tvorby řeči metody   MeSH
• poruchy řeči MeSH
• srozumitelnost řeči MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• klinická studie MeSH
• práce podpořená grantem MeSH

Many tasks in forensic examination of handwritten documents require classification of writing instruments that have ink of similar properties as the ink found on a questioned document. In this paper, we propose a new methodology for non-destructive identification of inks based on optical properties and reflectance spectra of the ink, measured from handwriting strokes. Building on this methodology, we developed an interactive database that we call the "Pen Ink Library", which lists 718 various writing instruments and enables systematic comparison and semi-automatic search of writing instruments, using the measured characteristics of their ink. To highlight the significance and applicability of the database, we additionally exploit the large amounts of collected measurements to design computer-based data analysis methods for classification and comparative analysis of ink samples. For validation of the semi-automatic search functionality of the Pen Ink Library we performed a series of blind tests using twenty randomly selected writing instruments. Here, an instrument with the same brand and model was found in nine cases, and an instrument with a different brand and model, but with identical spectrum and optical parameters, was found in five cases. Cross-validation of the computer-based data analysis methods on the measurements from the database yielded above 90% accuracy of the classification method and 5.3% to 12.7% error rate of the comparative analysis method.

• Publikační typ
• časopisecké články MeSH

BACKGROUND: Patient safety in undergraduate nursing studies is an indispensable component of the curriculum. The process of experiential learning from practice is of high value not only in terms of personal development but also enables students to identify and address critical areas of patient safety that require improvement. AIM: To explore Czech undergraduate nursing students' perceptions of patient safety culture during clinical practice through a mixed-method sequential study. METHODS: Data were collected between 2021 and 2024 using a mixed-method approach. The quantitative phase utilised the hospital survey on patient safety culture for nursing students. Four hundred and eighty-two undergraduate nursing students from 16 faculties across the Czech Republic participated. The subsequent qualitative phase employed semi-structured interviews with 12 undergraduate nursing students from one faculty in the Czech Republic. Descriptive and inferential statistical methods were used to analyse quantitative results, complemented by a reflective thematic analysis of qualitative data. RESULTS: The most negatively rated survey dimensions were 'Frequency of events reported' (37.0%) and 'Nonpunitive responses to errors' (42.4%). Predictors for reporting adverse events in clinical practice were 'Indicators of good practice' (p ≤ 0.05). Based on the quantitative phase, the interpretive journey of nursing students' experiences from Exposure to adverse events, through Feeling disconnected and Cognitive dissonance, to the necessity of Speaking up for patient safety culture was captured in the qualitative phase. CONCLUSIONS: Nursing students struggle to engage in a patient safety culture, particularly in reporting adverse events during clinical practice. Strengthening education on reporting and standards is essential for students, along with professional development for clinical staff to align practices and cultures.

• MeSH
• bezpečnost pacientů * normy   MeSH
• dospělí MeSH
• kvalitativní výzkum MeSH
• lidé MeSH
• mladý dospělý MeSH
• postoj zdravotnického personálu * MeSH
• průzkumy a dotazníky MeSH
• studenti ošetřovatelství * psychologie   MeSH
• studium ošetřovatelství bakalářské MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: The increasing complexity of mass casualty incidents (MCIs) necessitates highly effective training for emergency responders. Traditional training methods, while effective in teaching core skills, often fail to replicate the dynamic, high-pressure environments responders face in real-world crises. Virtual reality (VR) offers a novel approach to emergency training, providing an immersive, controlled setting that can simulate real-life scenarios. This study explores the effectiveness of VR in training paramedic students for MCIs and compares the outcomes to those from conventional training methods. METHODS: A comparative study was conducted with 37 paramedic students who underwent either VR-based training or conventional training using mannequins and real-world equipment. The VR application simulated a mass casualty car accident, focusing on triage and patient management. Both groups were assessed based on their performance in key areas, including the accuracy of situational reporting (METHANE), patient triage, heart rate monitoring, and perceived demand using the NASA Task Load Index (NASA-TLX). RESULTS: The VR group demonstrated significantly lower mental demand (p < 0.001) and frustration levels (p = 0.021) compared to traditional training. However, task completion times were slower in the VR setting (p < 0.001), likely due to the interface's unfamiliarity. Accuracy in situational reporting was higher in VR (p = 0.002), while heart rate monitoring did not reveal a significant difference between the groups (p = 0.516). Although VR did not reduce temporal demand (p = 0.057), it showed potential for improving focus and precision in training. Error rates in triage were similar across both training methods (p = 0.882), indicating comparable performance levels in patient classification. CONCLUSIONS: VR presents a promising tool for training emergency responders, particularly in situations that require rapid upskilling, such as crises or wars. The ability to simulate realistic, high-pressure scenarios in a controlled environment can enhance both cognitive and emotional preparedness. Further research is necessary to optimize VR systems and interfaces, making them more efficient for real-time decision-making. As VR technology advances, it holds potential as a key component in future emergency preparedness strategies.

• MeSH
• dospělí MeSH
• first responder * výchova   psychologie   MeSH
• hromadné neštěstí * MeSH
• lidé MeSH
• plánování postupu v případě katastrof metody   MeSH
• třídění pacientů metody   MeSH
• virtuální realita * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

In less than a decade, immune checkpoint inhibitors (ICIs) have transformed the management of mismatch repair-deficient (dMMR) and microsatellite instability-high (MSI) cancers. However, beyond colorectal cancer (CRC), much of the evidence is mostly derived from non-randomized phase II studies or post-hoc analyses of broader clinical trials. dMMR/MSI tumours represent a specific subgroup of gastro-esophageal adenocarcinomas (GEA), accounting for approximately 9 % of cases, with a higher prevalence in early-stage compared to advanced-stage disease and older female patients. These tumours are predominantly sporadic, often linked to MLH1 promoter methylation, and rarely exhibit HER2 overexpression/ERBB2 amplification or other oncogenic drivers. The treatment landscape for early stage dMMR/MSI GEA is likely to change substantially soon, as ICIs have shown high pathological complete response (pCR) rates in small phase II trials, raising questions on optimisation of neoadjuvant therapy, and paving the way for organ preservation. The standard of treatment for untreated patients with advanced dMMR/MSI GEA is chemotherapy + ICI irrespectively of PDL-1 status. However, the role of chemotherapy-free regimen consisting of CTLA-4 plus PD-1 inhibitors remains undetermined. This review addresses these and other emerging questions, offering expert opinions and insights into the future therapeutic landscape for dMMR/MSI GEA.

• MeSH
• adenokarcinom * farmakoterapie   genetika   patologie   terapie   MeSH
• inhibitory kontrolních bodů terapeutické užití   MeSH
• lidé MeSH
• mikrosatelitní nestabilita * MeSH
• nádory jícnu * farmakoterapie   genetika   patologie   MeSH
• nádory žaludku * farmakoterapie   genetika   patologie   terapie   MeSH
• oprava chybného párování bází DNA * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

This study aims to provide an updated overview of medical error taxonomies by building on a robust review conducted in 2011. It seeks to identify the key characteristics of the most suitable taxonomy for use in high-fidelity simulation-based postgraduate courses in Critical Care. While many taxonomies are available, none seem to be explicitly designed for the unique context of healthcare simulation-based education, in which errors are regarded as essential learning opportunities. Rather than creating a new classification system, this study proposes integrating existing taxonomies to enhance their applicability in simulation training. Through data from surveys of participants and tutors in postgraduate simulation-based courses, this study provides an exploratory analysis of whether a generic or domain-specific taxonomy is more suitable for healthcare education. While a generic classification may cover a broad spectrum of errors, a domain-specific approach could be more relatable and practical for healthcare professionals in a given domain, potentially improving error-reporting rates. Seven strong links were identified in the reviewed classification systems. These correlations allowed the authors to propose various simulation training strategies to address the errors identified in both the classification systems. This approach focuses on error management and fostering a safety culture, aiming to reduce communication-related errors by introducing the principles of Crisis Resource Management, effective communication methods, and overall teamwork improvement. The gathered data contributes to a better understanding and training of the most prevalent medical errors, with significant correlations found between different medical error taxonomies, suggesting that addressing one can positively impact others. The study highlights the importance of simulation-based education in healthcare for error management and analysis.

• MeSH
• chybná zdravotní péče * prevence a kontrola   klasifikace   MeSH
• lidé MeSH
• studium lékařství metody   MeSH
• tréninková simulace metody   MeSH
• zdravotnický personál výchova   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• kolorektální nádory farmakoterapie   MeSH
• kombinovaná farmakoterapie MeSH
• komunikace MeSH
• kvalita života MeSH
• lidé MeSH
• nádory * farmakoterapie   MeSH
• paliativní péče metody   MeSH
• prognóza MeSH
• pyrrolidiny terapeutické užití   MeSH
• sdělení pravdy MeSH
• thymin terapeutické užití   MeSH
• trifluridin terapeutické užití   MeSH
• vztahy mezi lékařem a pacientem * MeSH
• zapojení pacienta psychologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• novinové články MeSH

Background: Fosfomycin (FOS) is an older antimicrobial agent newly rediscovered as a possible treatment for infections with limited therapeutic options (e.g., Gram-negative bacteria with difficult-to-treat resistance, DTR), especially in intravenous form. However, for correct usage of FOS, it is necessary to have a reliable susceptibility testing method suitable for routine practice and robust interpretation criteria. Results: The results were interpreted according to 2023 interpretation criteria provided by the European Committee on Antimicrobial Susceptibility Testing (EUCAST). DTR Gram-negatives were more likely to be resistant to FOS (45% in Enterobacterales and 20% in P. aeruginosa) than non-DTR (10% and 6.7%, resp.). All isolates of S. aureus were susceptible to FOS. In Gram-negatives, all agreement values were unacceptable. Etest® performed better in the DTR cohort (categorical agreement, CA, 80%) than in the non-DTR cohort (CA 45.7%). There were no very major errors (VREs) observed in P. aeruginosa. S. aureus had surprisingly low essential agreement (EA) rates (53% for MRSA and 47% for MSSA) for Etest®, but categorical agreement was 100%. Methods: A total of 130 bacterial isolates were tested and compared using the disc diffusion method (DD) and gradient strip method (Etest®) with the reference method (agar dilution, AD). The spectrum of isolates tested was as follows: 40 Enterobacterales (20 DTR vs. 20 non-DTR), 30 Pseudomonas aeruginosa (15 DTR vs. 15 non-DTR), and 60 Staphylococcus aureus (30 methicillin-susceptible, MSSA, vs. 30 methicillin-resistant, MRSA). Conclusions: Neither one of the tested methods was identified as a suitable alternative to AD. It would be beneficial to define more interpretation criteria, at least in some instances.

• Publikační typ
• časopisecké články MeSH