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: Ice hockey is a dynamic game. We can observe collisions between the players that bring a risk of injury. There are many hockey clubs in the Czech Republic. These clubs raise great hockey players and many competing players in various levels of national leagues. The aim of this study was to map injuries in Czech hockey players and outline the situation of injury prevention and body care in ice hockey players. METHODS: We used a questionnaire survey method to obtain data. We received answers from 100 male active Czech ice hockey players, playing in the top three highest men's competitions (Extraleague - 2nd league). Individual injuries were analyzed according to specific body parts, injury type, playing position, level of competition using basic statistical characteristics and relative frequency analyses, including the recovery time, injury reason and the injury statistics per 1000 sporting performances in ice hockey. RESULTS: We found that 81% of participants suffered injuries with the overall incidence of injuries was 17.1 per 1000 sports performances and mainly happened during the match compared to training. The most common injuries were in the head and neck area (25%), often caused by a collision with another player, a stick or puck hit, or a collision with a board. Other frequently injured parts were the knees (21%), where internal ligament injuries predominate, and the shoulders (20%), where we recorded mainly ligament injuries. CONCLUSIONS: There is a high risk of various injury types of ice hockey players, that are developed accidentally in all body parts mostly in the match (mostly upper part of the body and knee) or by overloading (hip/groin area). We recommend strategies to avoid or minimize the injury risk of players. The hockey clubs, coaches, and players should extensively and regularly cooperate with physiotherapists, starting from the younger age of hockey groups, to prevent injuries and use regular strengthening of crucial muscle parts, regeneration, and compensatory exercises. We endorse adequately evaluating dangerous foul actions for referees and disciplinary officials also in minor competitions.

• MeSH
• dospělí MeSH
• hokej * zranění   MeSH
• incidence MeSH
• lidé MeSH
• mladý dospělý MeSH
• průzkumy a dotazníky MeSH
• sportovní úrazy * epidemiologie   prevence a kontrola   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet. While NTBC modulates the disease course in HT1 patients, several issues are open. Optimal dosage, doses per day, therapeutic range of NTBC concentration, mode of protein restriction and biomarkers are not well defined. HCC and neurocognitive deficits are long-term sequelae. Early diagnosis and treatment are essential to minimise the risk for these complications. Clinical guidance for management of HT1-patients is required. Randomised clinical studies are difficult in the presence of therapeutic options. We discussed these issues in a consensus group of 10 paediatricians, 1 adult hepatologist, 1 geneticist, 2 dieticians, 2 newborn screening specialists with experience in HT1, 1 psychologist and 2 representatives of a patient group from the German-speaking countries (DACH). Recommendations were based on scientific literature and expert opinion, also taking into account recent experience with newborn screening. There was strong consensus that newborn screening using succinylacetone (SA) and early treatment are essential for a good outcome. The dose of NTBC should be as low as possible without losing metabolic control. This has to be accompanied by a low protein diet, in some patients a simplified diet without calculation of protein intake. Specific education and psychosocial support are recommended. Indications for liver transplantation were defined. Monitoring shall include clinical findings, levels of SA, tyrosine, phenylalanine and NTBC in (dried) blood.

• MeSH
• cyklohexanony * terapeutické užití   MeSH
• heptanoáty MeSH
• konsensus MeSH
• lidé MeSH
• nitrobenzoany * terapeutické užití   MeSH
• nízkoproteinová dieta MeSH
• novorozenec MeSH
• novorozenecký screening * metody   MeSH
• transplantace jater MeSH
• tyrosinemie * diagnóza   terapie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Německo MeSH

OBJECTIVES: Olfactory dysfunction (OD) is common and carries significant personal and societal burden. Accurate assessment is necessary for good clinical and research practice but is highly dependent on the assessment technique used. Current practice with regards to UK/international clinical assessment is unknown. We aimed to capture current clinical practice, with reference to contemporaneously available guidelines. We further aimed to compare UK to international practice. DESIGN: Anonymous online questionnaire with cross-sectional non-probability sampling. Subgroup analysis according to subspeciality training in rhinology ('rhinologists' and 'non-rhinologists') was performed, with geographical comparisons only made according to subgroup. PARTICIPANTS: ENT surgeons who assess olfaction. RESULTS: Responses were received from 465 clinicians (217 from UK and 17 countries total). Country-specific response rate varied, with the lowest rate being obtained from Japan (1.4%) and highest from Greece (72.5%). Most UK clinicians do not perform psychophysical smell testing during any of the presented clinical scenarios-though rhinologists did so more often than non-rhinologists. The most frequent barriers to testing related to service provision (e.g., time/funding limitations). Whilst there was variability in practice, in general, international respondents performed psychophysical testing more frequently than those from the UK. Approximately 3/4 of all respondents said they would like to receive training in psychophysical smell testing. Patient reported outcome measures were infrequently used in the UK/internationally. More UK respondents performed diagnostic MRI scanning than international respondents. CONCLUSIONS: To our knowledge, this is the most comprehensive UK-based, and only international survey of clinical practice in the assessment of OD. We present recommendations to improve practice, including increased education and funding for psychophysical smell testing. We hope this will promote accurate and reliable olfactory assessment, as is the accepted standard in other sensory systems.

• MeSH
• čich * fyziologie   MeSH
• hodnocení výsledků péče pacientem MeSH
• lidé MeSH
• poruchy čichu * diagnóza   MeSH
• průřezové studie MeSH
• průzkumy a dotazníky MeSH
• stupeň vzdělání MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: The primary objective of this study was to conduct a comprehensive questionnaire survey on the practices of research ethics committees reviewing academic research projects in Czechia. The study aims to provide an unbiased and objective assessment of the current practices of research ethics committees, namely to obtain the missing data on their functioning in the context of academic research, to identify difficulties and shortages that threaten the responsible functioning of research ethics committees in the country and to investigate the implementation of Additional Protocol on Biomedical Research CETS No. 195 in their practice. Such research has never been conducted in Czechia. METHODS: This was a mixed-methods study, in which the online survey with closed and open-ended questions was chosen to explore the situation regarding ethics assessment of research involving human participants. We developed a questionnaire containing 18 questions concerning several aspects of the functioning of research ethics committees. The questionnaire was in Czech language and was administered through the Qualtrics platform anonymously. The target group of 61 research ethics committees at research institutions was approached by emails and we received 43 completely filled questionnaires, i.e., response rate of 67%. RESULTS: We obtained valuable data on the functioning of research ethics committees in Czechia in three main domains: the mandate and composition of the committee; the scope of its agenda; the process of evaluation including the voting procedure. In addition, the final set of open-ended questions provided an in-depth look at the problems faced by research ethics committees in Czechia. From the results is evident that the responsible assessment of the ethics of research involving human subjects is still not satisfactorily addressed and established for routine practice in the country. CONCLUSIONS: The outcomes of our study revealed that the main problem of research ethics in Czechia is the lack of national legislation on research ethics governance. To address this problem, the country requires a legislative framework accompanied by supportive measures aimed at educating, guiding and advising research ethics committees, especially in the Czech academic environment. TRIAL REGISTRATION NUMBER: Not applicable.

• MeSH
• biomedicínský výzkum etika   MeSH
• etické komise - výzkum * MeSH
• etické zhodnocení MeSH
• etika výzkumu * MeSH
• experimenty na lidech etika   MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: Given the critical role of general practitioners (GPs), their insufficient medical density and the adverse effects of burnout on both practitioners and the quality of care provided, the prevalence estimates of GP burnout reported in the literature are highly concerning. This nationwide study builds on a 2023 survey that revealed a significant burden of burnout among Czech GPs. The primary objectives were to analyse the prevalence and determinants of burnout and to examine potential trends over time. METHODS: In April 2024, 2,500 randomly selected GPs were emailed the Maslach Burnout Inventory - Human Services Survey for Medical Personnel, supplemented with sociodemographic and job-related questions. The statistical analysis included a comparison with an identical study conducted a year earlier. RESULTS: Of the 765 completed responses (542 females, 223 males; mean age 55.5 years), 19.7% of the GPs experienced burnout in all three dimensions, 23% in two, 28.5% in one, and 28.8% in no dimension. Similar to 2023, the most common burnout dimension was a lack of personal accomplishment (PA, 52.2%), followed by emotional exhaustion (EE, 45.9%) and depersonalization (DP, 35.7%). Male and employed GPs experienced greater degrees of DP, while practice owners were more susceptible to EE. A positive dependence of burnout on the number of listed patients was identified. The proportion of GPs experiencing burnout across all dimensions decreased by 2.1% from 2023 to 2024 (p = 0.232), primarily in DP. Additionally, a 6.7% increase in GPs showing no signs of burnout in all dimensions (p = 0.002) further supported this positive trend. CONCLUSIONS: Between 2023 and 2024, the prevalence of burnout among GPs exhibited a modest decline. Nonetheless, it persists at almost 20%. Ensuring a sufficiently dense network of GPs, providing adequate resource allocation, and raising awareness of their importance are essential measures.

• MeSH
• depersonalizace epidemiologie   psychologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• pracovní uspokojení MeSH
• praktičtí lékaři * psychologie   MeSH
• prevalence MeSH
• profesionální vyhoření * epidemiologie   psychologie   MeSH
• průzkumy a dotazníky MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: Electronic patient-reported outcomes (ePROs) have been shown to enhance healthcare quality by improving patient symptom management or quality of life (QoL). However, ePROs data for urothelial cancer (UC) patients receiving systemic therapies are scarce, and the application of ePROs in this patient cohort may need specific setups. This study tested the feasibility of ePROs for UC patients receiving systemic therapies in the outpatient clinic of a tertiary care center. PATIENTS AND METHODS: From January 2022 to April 2023, 30 UC patients receiving systemic cancer therapies received ePROs based on the Common Terminology Criteria for Adverse Events (CTCAE) and European Organization for Research and Treatment of Cancer Core Quality of Life questionnaires (EORTC QLQ-30) to report their symptoms and QoL during systemic therapy, in total, 125 questions for every therapy cycle. The proportion of patients adherent to the ePROs was assessed to evaluate feasibility, with a preset threshold of 50%. At least half of all treatment cycles with a minimum of two consecutive ePROs (corresponding to two successive therapy cycles) had to be completed to be counted as adherent, and a maximum of six successive therapy cycles was followed by ePROs. Descriptive statistics were calculated for clinical and demographic patient characteristics. T-test and chi-square-test analyses were performed to study the association between ePROs adherence and clinical or demographic factors. The digital process was closely monitored for procedural impediments that could occur. RESULTS: 21 (70%) of the included 30 patients adhered to the provided ePROs, significantly higher than the predetermined threshold of 50%. Adherence remained above 70% until the end of the observation period. A significant negative effect of immigration background on ePROs compliance was observed (p = 0.006). No other variables were significantly associated with ePROs compliance. CONCLUSIONS: In this study, ePROs were a feasible method to assess symptoms and QoL during the systemic cancer therapy of UC patients at our center. The compliance of patients with immigration backgrounds was the most significant barrier to using ePROs in this setting. However, the study is limited by the exclusion of patients without email access and the lack of assessment of physician compliance with the ePROs data, which may affect the generalizability and implementation of the findings.

• MeSH
• emigrace a imigrace MeSH
• hodnocení výsledků péče pacientem * MeSH
• kvalita života * MeSH
• lidé středního věku MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• studie proveditelnosti * MeSH
• urologické nádory terapie   psychologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Using the perspective of the recent COVID-19 pandemic, which represents a public health challenge that also affects education and the psychological well-being of students, this paper aims to assess the vulnerability to anxiety and stress of the Romanian students from the Faculty of Administration and Business of the University of Bucharest pursuing their degrees in administration and business. METHODS: Our study is based on the results of the survey that was administered to a sample of 422 students (39.6% females and 60.4% males) selected from the pool of 2000 recruited respondents. We employed the ANOVA/linear Dependent Dirichlet Process mixture model to explain the causes of stress and anxiety after various grouping variables represented by gender, specialisation, as well as labour market status. RESULTS: Our results revealed that more than 80% of the students in the sample yielded medium and high vulnerability to stress, while 64% of the respondents were affected by severe anxiety (high frequency of psychological, social, and physical problems that were difficult for them to control). The most important stressors were the fear of getting infected and social distancing, while self-control was considered the most effective coping strategy by 62.6% of employed students. CONCLUSIONS: These results allow us to provide practical recommendations for effectively coping with stress and anxiety among students in Romania and beyond and to help stakeholders and policymakers design strategies for strengthening students' resilience, mental health, and well-being in case of future pandemics or other extreme contexts.

• MeSH
• adaptace psychologická * MeSH
• copingové dovednosti MeSH
• COVID-19 * epidemiologie   psychologie   MeSH
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• pandemie MeSH
• průzkumy a dotazníky MeSH
• psychický stres * epidemiologie   psychologie   MeSH
• SARS-CoV-2 MeSH
• studenti * psychologie   statistika a číselné údaje   MeSH
• univerzity MeSH
• úzkost * epidemiologie   psychologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Rumunsko MeSH

There are global movements aiming to promote reform of the traditional research evaluation and reward systems. However, a comprehensive picture of the existing best practices and efforts across various institutions to integrate Open Science into these frameworks remains underdeveloped and not fully known. The aim of this study was to identify perceptions and expectations of various research communities worldwide regarding how Open Science activities are (or should be) formally recognised and rewarded. To achieve this, a global survey was conducted in the framework of the Research Data Alliance, recruiting 230 participants from five continents and 37 countries. Despite most participants reporting that their organisation had one form or another of formal Open Science policies, the majority indicated that their organisation lacks any initiative or tool that provides specific credits or rewards for Open Science activities. However, researchers from France, the United States, the Netherlands and Finland affirmed having such mechanisms in place. The study found that, among various Open Science activities, Open or FAIR data management and sharing stood out as especially deserving of explicit recognition and credit. Open Science indicators in research evaluation and/or career progression processes emerged as the most preferred type of reward.

• MeSH
• internacionalita * MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• výzkumní pracovníci psychologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Cílem novorozeneckého screeningu (NS) je identifikovat novorozence se závažnými, ale léčitelnými onemocněními, a to před nástupem klinických příznaků. Pokles nákladů a zlepšení technologií genomového sekvenování vedou k úvahám o rozšíření programu NS o řadu dalších vzácných genetických onemocnění, která lze nyní identifikovat pomocí sekvenování rozsáhlých oblastí genomu. Začlenění genomového sekvenování do programu NS bude klást vysoké nároky na celý systém. Bude třeba dobudovat infrastrukturu pro zajištění informovaného souhlasu, zvládnout velký nárůst počtu genomových testů, jejich rychlé provedení a vyhodnocení, zajistit komplexní multidisciplinární péči o asymptomatické jedince, navrhnout vhodné systémy pro ukládání a přístup ke genomickým datům a zajistit vhodné vyhodnocení programu. Genomový NS by navíc nabízel možnosti rozšíření analýzy na onemocnění, jejichž zařazení primárně nenaplňuje přínos screeningového programu. Jsou jimi například neléčitelná onemocnění, choroby s nástupem v dospělosti nebo detekce asymptomatického přenašečství pro různé genetické choroby. Etické otázky, které genomový NS vyvolává, se týkají zejména problematiky informovaného souhlasu a ochrany soukromí. Nutno je též vyvážit přínos pro jedince a újmu plynoucí z možných nálezů genomového sekvenování. Všechny tyto problémy je třeba před zavedením genomového sekvenování do programu NS adekvátně diskutovat a řešit. Korespondující autorka: Mgr. Věra Franková, Ph.D. et Ph.D. Ke Karlovu 2 128 08 Praha 2 vera.frankova@lf1.cuni.cz

The aim of newborn screening (NBS) is to identify newborns with serious but treatable diseases before the onset of clinical symptoms. Declining costs and improvements in genome sequencing technologies have led to consideration of expanding the NBS programme to include a number of other rare genetic diseases that can now be identified by sequencing large regions of the genome. Incorporating genome sequencing into the programme will place high demands on the whole NBS system. It will be necessary to build the infrastructure to ensure informed consent, manage the large increase of genomic tests and their rapid execution, provide comprehensive multidisciplinary care for asymptomatic individuals, design appropriate systems for storage and access to genomic data, and ensure appropriate evaluation of the programme. In addition, genomic NBS would offer opportunities to extend the analysis to diseases whose inclusion does not primarily fulfil the aims of a screening programme. These include, for example, nontreatable diseases, diseases with onset in adulthood or detection of asymptomatic carriers for various genetic diseases. The ethical issues raised by genomic NBS are mainly related to the issues of informed consent and privacy. It is also necessary to balance the benefit and the potential harm to the individual that can arise from the findings of genomic sequencing. All of these issues need to be adequately discussed and addressed prior to the introduction of genomic sequencing into the NBS program.

• MeSH
• etika klasifikace   MeSH
• genetické nemoci vrozené diagnostické zobrazování   diagnóza   genetika   klasifikace   MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening * etika   klasifikace   metody   MeSH
• sekvenování celého genomu etika   metody   MeSH
• vzácné nemoci diagnóza   genetika   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• přehledy MeSH