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: Advances in paediatric type 1 diabetes management and increased use of diabetes technology have led to improvements in glycaemia, reduced risk of severe hypoglycaemia, and improved quality of life. Since 1993, progressively lower HbA1c targets have been set. The aim of this study was to perform a longitudinal analysis of HbA1c, treatment regimens, and acute complications between 2013 and 2022 using data from eight national and one international paediatric diabetes registries. METHODS: In this longitudinal analysis, we obtained data from the Australasian Diabetes Data Network, Czech National Childhood Diabetes Register, Danish Registry of Childhood and Adolescent Diabetes, Diabetes Prospective Follow-up Registry, Norwegian Childhood Diabetes Registry, England and Wales' National Paediatric Diabetes Audit, Swedish Childhood Diabetes Registry, T1D Exchange Quality Improvement Collaborative, and the SWEET initiative. All children (aged ≤18 years) with type 1 diabetes with a duration of longer than 3 months were included. Investigators compared data from 2013 to 2022; analyses performed on data were pre-defined and conducted separately by each respective registry. Data on demographics, HbA1c, treatment regimen, and event rates of diabetic ketoacidosis and severe hypoglycaemia were collected. ANOVA was performed to compare means between registries and years. Joinpoint regression analysis was used to study significant breakpoints in temporal trends. FINDINGS: In 2022, data were available for 109 494 children from the national registries and 35 590 from SWEET. Between 2013 and 2022, the aggregated mean HbA1c decreased from 8·2% (95% CI 8·1-8·3%; 66·5 mmol/mol [65·2-67·7]) to 7·6% (7·5-7·7; 59·4mmol/mol [58·2-60·5]), and the proportion of participants who had achieved HbA1c targets of less than 7% (<53 mmol/mol) increased from 19·0% to 38·8% (p<0·0001). In 2013, the aggregate event rate of severe hypoglycaemia rate was 3·0 events per 100 person-years (95% CI 2·0-4·9) compared with 1·7 events per 100 person-years (1·0-2·7) in 2022. In 2013, the aggregate event rate of diabetic ketoacidosis was 3·1 events per 100 person-years (95% CI 2·0-4·8) compared with 2·2 events per 100 person-years (1·4-3·4) in 2022. The proportion of participants with insulin pump use increased from 42·9% (95% CI 40·4-45·5) in 2013 to 60·2% (95% CI 57·9-62·6) in 2022 (mean difference 17·3% [13·8-20·7]; p<0·0001), and the proportion of participants using continuous glucose monitoring (CGM) increased from 18·7% (95% CI 9·5-28·0) in 2016 to 81·7% (73·0-90·4) in 2022 (mean difference 63·0% [50·3-75·7]; p<0·0001). INTERPRETATION: Between 2013 and 2022, glycaemic outcomes have improved, parallel to increased use of diabetes technology. Many children had HbA1c higher than the International Society for Pediatric and Adolescent Diabetes (ISPAD) 2022 target. Reassuringly, despite targeting lower HbA1c, severe hypoglycaemia event rates are decreasing. Even for children with type 1 diabetes who have access to specialised diabetes care and diabetes technology, further advances in diabetes management are required to assist with achieving ISPAD glycaemic targets. FUNDING: None. TRANSLATIONS: For the Norwegian, German, Czech, Danish and Swedish translations of the abstract see Supplementary Materials section.

• MeSH
• diabetes mellitus 1. typu * epidemiologie   krev   farmakoterapie   MeSH
• dítě MeSH
• glykovaný hemoglobin * analýza   MeSH
• hypoglykemie epidemiologie   MeSH
• hypoglykemika * terapeutické užití   MeSH
• kojenec MeSH
• krevní glukóza * analýza   MeSH
• lidé MeSH
• longitudinální studie MeSH
• mladiství MeSH
• předškolní dítě MeSH
• registrace * statistika a číselné údaje   MeSH
• regulace glykemie statistika a číselné údaje   metody   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články 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

BACKGROUND: Reminiscence therapy (RT) is a widely used approach to promote well-being among older adults and is an effective intervention method for older adults with diverse health conditions, including community-dwelling older adults. OBJECTIVES: The aim of the study was to determine the impact of group RT on assessments of depression, anxiety and self-esteem in older adults living in the community. METHODS: We implemented sessions of group simple RT. The sample consisted of 24 older adults living in the community who attended a 12-week RT course. The duration of each reminiscence session was 60 min. The average age of the sample was 74.7 years. We used the Geriatric Depression Scale, the Geriatric Anxiety Inventory, the Rosenberg self-esteem scale, the Older adults' Quality of Life-Brief version and the Sense of Coherence scale to assess mental health outcomes before and after intervention. RESULTS: After intervention, we observed statistically significant improvements in assessments of depression (p < 0.001), anxiety (p = 0.011), self-esteem (p = 0.007) and the comprehensibility dimension of the sense of coherence scale (p = 0.039). Depression showed the largest effect size (Cohen's d = 0.870; 95% CI: 0.392 to 1.335), indicating a large effect, followed by self-esteem (Cohen's d = 0.612; 95% CI: -1.044 to -0.170) and anxiety (Cohen's d = 0.543; 95% CI: 0.108 to 0.967), both of which demonstrated a moderate effect. CONCLUSIONS: We found group RT to be effective for several outcomes among older adults. Reminiscence is a good non-invasive treatment for the promotion of mental health in community-dwelling older adults. IMPLICATIONS FOR PRACTICE: As research has now established RT to be an essential component of activities for older adults in senior care facilities, we should also offer it to those living in the community as an effective activity for the promotion of healthy aging among older adults.

• MeSH
• deprese * terapie   psychologie   MeSH
• geriatrické hodnocení MeSH
• kvalita života MeSH
• lidé MeSH
• samostatný způsob života * MeSH
• sebepojetí * MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• skupinová psychoterapie metody   MeSH
• úzkost * terapie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články 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

• MeSH
• kojenecká mortalita MeSH
• lidé MeSH
• náhlé příhody * epidemiologie   klasifikace   MeSH
• neonatologie * MeSH
• novorozenec MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND AND OBJECTIVE: There are limited data on real-world outcomes for patients with advanced or metastatic urothelial cancer (mUC) since immune checkpoint inhibitors (ICIs) became available. Our objective was to analyze outcomes for patients with mUC since ICIs became available. METHODS: We performed a retrospective analysis of 131 patients with mUC attending the outpatient clinic of a single tertiary care center who received systemic therapy between June 2017 and July 2021 with follow-up up to December 2022. Summary and descriptive statistics were calculated for categorical and continuous variables. The Kaplan-Meier method was applied to calculate survival, and a Cox proportional-hazards model was used to explore associations between clinical variables and outcomes. KEY FINDINGS AND LIMITATIONS: The median patient age was 68 yr (range 35-90). The first systemic therapy administered was platinum-based in 79% of cases and ICI-based in 21%. Some 61% of the cohort received a second systemic treatment, with 75% of these an ICI. Median overall survival for the entire cohort was 24 mo (interquartile range 9-35). Patients on ICI therapy for ≥6 mo had median overall survival of 59 mo (95% confidence interval 39 mo-not reached). Metastatic sites on initiation of ICI therapy and C-reactive protein kinetics were prognostic in patients receiving ICIs. Limitations include the retrospective design and inherent selection bias. CONCLUSIONS AND CLINICAL IMPLICATIONS: More than 60% of patients with mUC received second-line treatment, and 75% of these received an ICI. Patients staying on immunotherapy for more than 6 mo have substantially better outcomes in comparison to patients with less time on immunotherapy and historical cohorts. PATIENT SUMMARY: We looked at the lines of therapy and outcomes for patients with advanced or metastatic cancer of the urinary tract, starting from when immunotherapy drugs called immune checkpoint inhibitors (ICIs) became available. We found that 60% of patients have received second-line therapy, which is a double the rate in comparison to historical groups of patients. Patients with long-term ICI therapy (>6 months) had significantly better outcomes, with a median survival of more than 3 years.

• MeSH
• dospělí MeSH
• imunoterapie * metody   MeSH
• inhibitory kontrolních bodů * terapeutické užití   MeSH
• karcinom z přechodných buněk * farmakoterapie   sekundární   patologie   MeSH
• lékařská praxe - způsoby provádění statistika a číselné údaje   MeSH
• lidé středního věku MeSH
• lidé MeSH
• metastázy nádorů MeSH
• míra přežití MeSH
• nádory močového měchýře * farmakoterapie   patologie   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• staging nádorů MeSH
• urologické nádory farmakoterapie   patologie   MeSH
• výsledek terapie 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

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

In recent years, several international urological societies have published guidelines on the diagnosis, treatment, and follow-up of urethral strictures, but a guideline for the German-speaking region has not been available to date. This summary provides a detailed comparison of the guidelines of the European Association of Urology (EAU), American Urological Association (AUA) and the Société Internationale d'Urologie (SIU) with regard to the treatment of anterior urethral strictures, i.e. from the bulbar urethra to the meatus. In the following work, differences and specific recommendations in the guidelines are highlighted. In particular, the three guidelines largely agree with regard to diagnostic workup and follow-up. However, divergences exist in the management of anterior urethral strictures, particularly with regard to the use of endoscopic therapeutic approaches and the use of urethral stents. In addition, the EAU provides more comprehensive and detailed recommendations on urethroplasty techniques and specific patient follow-up. The EAU guidelines are the most current and were the first to include instructions for urethral strictures in women and individuals with gender incongruence after genital approximation surgery. Reconstructive urology is a rapidly evolving specialty and, thus, the clinical approach has been changing accordingly. Although guideline recommendations have become more inclusive and comprehensive, more high-quality data are needed to further improve the level of evidence.

• MeSH
• lidé MeSH
• správnost dat MeSH
• striktura uretry * diagnóza   MeSH
• uretra chirurgie   MeSH
• urologie * MeSH
• zákroky plastické chirurgie * MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Spojené státy americké 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