STUDY QUESTION: Can oocyte functionality be assessed by observing changes in their intracytoplasmic lipid droplets (LDs) profiles? SUMMARY ANSWER: Lipid profile changes can reliably be detected in human oocytes; lipid changes are linked with maternal age and impaired developmental competence in a mouse model. WHAT IS KNOWN ALREADY: In all cellular components, lipid damage is the earliest manifestation of oxidative stress (OS), which leads to a cascade of negative consequences for organelles and DNA. Lipid damage is marked by the accumulation of LDs. We hypothesized that impaired oocyte functionality resulting from aging and associated OS could be assessed by changes in LDs profile, hereafter called lipid fingerprint (LF). STUDY DESIGN, SIZE, DURATION: To investigate if it is possible to detect differences in oocyte LF, we subjected human GV-stage oocytes to spectroscopic examinations. For this, a total of 48 oocytes derived from 26 young healthy women (under 33 years of age) with no history of infertility, enrolled in an oocyte donation program, were analyzed. Furthermore, 30 GV human oocytes from 12 women were analyzed by transmission electron microscopy (TEM). To evaluate the effect of oocytes' lipid profile changes on embryo development, a total of 52 C57BL/6 wild-type mice and 125 Gnpat+/- mice were also used. PARTICIPANTS/MATERIALS, SETTING, METHODS: Human oocytes were assessed by label-free cell imaging via coherent anti-Stokes Raman spectroscopy (CARS). Further confirmation of LF changes was conducted using spontaneous Raman followed by Fourier transform infrared (FTIR) spectroscopies and TEM. Additionally, to evaluate whether LF changes are associated with developmental competence, mouse oocytes and blastocysts were evaluated using TEM and the lipid dyes BODIPY and Nile Red. Mouse embryonic exosomes were evaluated using flow cytometry, FTIR and FT-Raman spectroscopies. MAIN RESULTS AND THE ROLE OF CHANCE: Here we demonstrated progressive changes in the LF of oocytes associated with the woman's age consisting of increased LDs size, area, and number. LF variations in oocytes were detectable also within individual donors. This finding makes LF assessment a promising tool to grade oocytes of the same patient, based on their quality. We next demonstrated age-associated changes in oocytes reflected by lipid peroxidation and composition changes; the accumulation of carotenoids; and alterations of structural properties of lipid bilayers. Finally, using a mouse model, we showed that LF changes in oocytes are negatively associated with the secretion of embryonic exosomes prior to implantation. Deficient exosome secretion disrupts communication between the embryo and the uterus and thus may explain recurrent implantation failures in advanced-age patients. LIMITATIONS, REASONS FOR CAUTION: Due to differences in lipid content between different species' oocytes, the developmental impact of lipid oxidation and consequent LF changes may differ across mammalian oocytes. WIDER IMPLICATIONS OF THE FINDINGS: Our findings open the possibility to develop an innovative tool for oocyte assessment and highlight likely functional connections between oocyte LDs and embryonic exosome secretion. By recognizing the role of oocyte LF in shaping the embryo's ability to implant, our original work points to future directions of research relevant to developmental biology and reproductive medicine. STUDY FUNDING/COMPETING INTEREST(S): This research was funded by National Science Centre of Poland, Grants: 2021/41/B/NZ3/03507 and 2019/35/B/NZ4/03547 (to G.E.P.); 2022/44/C/NZ4/00076 (to M.F.H.) and 2019/35/N/NZ3/03213 (to Ł.G.). M.F.H. is a National Agency for Academic Exchange (NAWA) fellow (GA ULM/2019/1/00097/U/00001). K.F. is a Diamond Grant fellow (Ministry of Education and Science GA 0175/DIA/2019/28). The open-access publication of this article was funded by the Priority Research Area BioS under the program "Excellence Initiative - Research University" at the Jagiellonian University in Krakow. The authors declare no competing interest. TRIAL REGISTRATION NUMBER: N/A.

• MeSH
• dospělí MeSH
• embryonální vývoj fyziologie   MeSH
• lidé MeSH
• lipidová tělíska metabolismus   MeSH
• metabolismus lipidů MeSH
• myši inbrední C57BL * MeSH
• myši MeSH
• oocyty * metabolismus   MeSH
• oxidační stres MeSH
• Ramanova spektroskopie MeSH
• stárnutí metabolismus   MeSH
• transmisní elektronová mikroskopie MeSH
• věk matky MeSH
• zvířata MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Cíl: Cílem této studie bylo analyzovat klinické aspekty diagnostiky a léčby léze lícního nervu (LLN) u dětí v terciálním centru. Zaměřuje se na demografii, etiologii, diagnostický a terapeutický proces, míru úpravy po terapii a rozsah relapsů. Materiál a metodika: Retrospektivní studie, 572 pacientů (0–18 let), léčených ve fakultní nemocnici s diagnózou LLN v průběhu 10 let (2011–2021). Data byla získávaná z pacientské dokumentace. Analyzovány byly následující parametry: věk, pohlaví, strana léze, etiologie, diagnostický proces zahrnující radiologické vyšetření, léčebný proces, úprava léze po terapii a míra relapsu. Výsledky: LLN se vyskytla v 554 případech jako unilaterální, v 18 jako bilaterální bez signifikantní stranové diference. Dívky byly postiženy v 301 (52,6 %) a chlapci v 271 (47,4 %) případech. Medián věku byl stanoven na 9,4 ± 4,7 roku. Průměrné House-Brackmann (HB) skóre bylo 3,6 ± 1,0. Jako dvě nejčastější příčiny jsme prokázali infekční 264 (46,2 %) a idiopatickou 255 (44,6 %). Borelióza byla nejčastěji zastoupenou infekční příčinou u 216 (81,8 %) případů. Třetí nejčastější příčina byla neoplastická u 15 (2,6 %) případů. Následovaly traumatická, kongenitální a další. Nekompletní paréza byla detekována u 556 (97,2 %) případů a kompletní u 16 (2,8 %). Kortikosteroidy byly podány u 360 pacientů, antibiotika/antivirotika u 311 pacientů. Chirurgický výkon podstoupilo 26 pacientů. Úpravu po terapii jsme zaznamenali u 94,7 % pacientů, nezaznamenali u 5,3 %, u 1 % je údaj neznámý. U infekční příčiny prokázalo úpravu po terapii 99,2 %, u idiopatické 98 % pacientů. Pacienti s infekční, idiopatickou a traumatickou příčinou měli vyšší míru úpravy po terapii než pacienti s neoplastickou příčinou. Závěr: LLN je relativně častá akutní diagnóza v dětském věku. Bylo popsáno velké množství různých příčin, nejčastěji se vyskytuje příčina infekční a idiopatická. Pro správnou diagnózu je důležitá detailní anamnéza a klinické vyšetřeni. V léčbě převažuje terapie kortikosteroidy a antibiotiky. Názory na léčbu jsou kontroverzní. Prognóza LLN u děti je zpravidla dobrá.

Aim: This study aimed to analyze the different characteristics of FNLs in children focusing on demographics, etiology, diagnostic and therapeutic process, improvement after therapy, and relapse rate in a tertiary center. Materials and methods: A retrospective study of 572 children (0 to 18 years) who were admitted to the University Hospital with facial nerve lesion (FNL) during a 10-year period (2011–2021). The data were gathered from patients´ medical files to analyze age, sex, side of FNL, etiology, the diagnostic process including radiological examinations, treatment methods, improvement after therapy, and relapse rate. Results: There were 554 unilateral and 18 bilateral cases without significant laterality differences. Girls were affected in 301 (52.6%) cases and boys in 271 (47.4%) cases. The median age was 9.4 ± 4.7 years. The mean House-Brackmann (HB) score was 3.6 ± 1.0. Two main causes whose representation was balanced were detected. Infectious causes occurred in 264 (46.2%) cases and idiopathic causes occurred in 255 (44.6%) cases. Borreliosis was the most common infectious cause in 216 (81.8%) cases. The third most common cause was of neoplastic origin in 15 (2.6%) cases. The following causes were traumatic, congenital, and others. Incomplete FNL was detected in 556 (97.2%) cases and complete FNL was found in 16 (2.8%) cases. Corticosteroids were administered in 360 patients, and antibiotics/ antivirals were given to 311 patients. Surgery was performed in 26 patients. 94.7 % of patients showed improvement after therapy while 5.3% did not, and 1.0% had an unknown outcome. For the infectious causes, improvement after therapy was seen in 99.2% of patients and idiopathic causes saw improvement in 98% of patients. Patients with infectious, idiopathic, and traumatic causes of paresis had a higher percentage of recovery compared to patients with neoplastic causes. Conclusions: FNL in children is a relatively common acute condition in pediatric care. Many different causes of FNL were described, the most common being infectious and idiopathic. A detailed clinical history and clinical examination are mandatory. Corticosteroids and antibiotics are most commonly prescribed medicaments. Opinions on the treatment remain controversial. The prognosis of FNL in children is usually favorable.

• MeSH
• dítě MeSH
• lidé MeSH
• lymská neuroborelióza komplikace   MeSH
• mladiství MeSH
• motorické neurony patologie   MeSH
• nemoci lícního nervu * epidemiologie   etiologie   patologie   terapie   MeSH
• recidiva MeSH
• retrospektivní studie MeSH
• statistika jako téma MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

BACKGROUND: In today's digital age, demanding to interpret vast quantities of visual information with speed and accuracy, nonverbal Intelligence has become increasingly crucial for children, as it plays a key role in cognitive development and learning. While motor proficiency has been positively linked to various cognitive functions in children, its relationship with nonverbal Intelligence remains an open question. This study, therefore, explored the structural associations between motor proficiency and nonverbal Intelligence in school-aged children (6 to 11 years), focusing on potential age and sex-specific patterns. METHODS: Data were obtained from 396 children aged 6 to 11 (214 boys, 182 girls; mean age 8.9 years ±1.3) divided into younger children 6-8 years and older Children 9-11 years. Motor proficiency was assessed using the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2), and non-verbal Intelligence was evaluated with the Raven Progressive Matrices (RPM). We conducted multigroup structural modelling with non-verbal Intelligence as a dependent latent variable. RESULTS: The BOT-2 and RPM models demonstrated an acceptable fit in Czech children. Strength-agility and Fine motor control emerged as the strongest predictors of nonverbal intelligence level assessed by five sets of RPM. Age-specific analyses revealed that the Strength-agility construct was consistently a significant predictor of nonverbal intelligence level in both age categories. However, in older children, also Fine motor control was significantly linked to nonverbal intelligence level. Sex-specific differences were also observed in the structural modelling results, indicating significant predictor non-invariance based on participants' sex. In girls, both Fine motor control and the Strength-agility constructs were significant predictors of nonverbal Intelligence level, showing stronger associations with nonverbal Intelligence than boys. For boys, only the Strength-agility construct was a significant predictor of RPM performance. CONCLUSION: This study reveals a nuanced age- and sex-specific relationship between children's motor proficiency and nonverbal Intelligence. The findings underscore the need for targeted physical interventions, particularly those emphasising fine motor and strength-agility exercises, to ensure equitable opportunities for motor skill development. Such interventions may enhance physical abilities and support cognitive development in an increasingly digital world.

• MeSH
• analýza latentních tříd MeSH
• dítě MeSH
• inteligence * fyziologie   MeSH
• lidé MeSH
• motorické dovednosti * fyziologie   MeSH
• sexuální faktory MeSH
• věkové faktory MeSH
• vývoj dítěte fyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

OBJECTIVES: To re-evaluate cut-offs for disease activity states according to the Axial Spondyloarthritis Disease Activity Score (ASDAS), and study the impact of sex, age, calendar time, disease and symptom duration on ASDAS and ASDAS cut-offs in a large contemporary cohort. METHODS: Data from 2939 patients with axial spondyloarthritis (axSpA) starting their first tumour necrosis factor inhibitor in nine European registries were pooled and analysed. Receiver operating characteristic analyses were performed to identify cut-offs against external criteria. Six-month data including patient and physician global assessments, both ≤1 (0-10 integer scale), and Assessment of SpondyloArthritis International Society partial remission were used for separation of inactive disease (ID) from low disease activity (LDA), while patient and physician global ≤3 were applied as external criteria to separate LDA from high disease activity (HDA). Patient and physician global ≥6 were applied to separate HDA from very high disease activity in baseline data. RESULTS: The three ASDAS cut-offs identified to separate the four disease activity states in the overall patient population were <1.3, <2.0 and >3.5. Cut-offs for ID and LDA in women were higher (<1.5 and <2.0, respectively) than in men (<1.3 and <1.9), as were cut-offs in patients ≥45 years (<1.5 and <2.2) versus ≤34 years (<1.2 and <1.9) and 35-44 years (<1.3 and <1.8). Cut-offs were independent of calendar time and disease duration. CONCLUSIONS: Re-evaluation of ASDAS cut-offs for disease activity states in a large multi-national axSpA cohort resulted in cut-offs similar to those currently endorsed. Differences in cut-offs between sex and age groups for ID and LDA were observed, but the differences were minor.

• MeSH
• axiální spondyloartritida * diagnóza   epidemiologie   MeSH
• dospělí MeSH
• inhibitory TNF terapeutické užití   MeSH
• lidé středního věku MeSH
• lidé MeSH
• registrace * MeSH
• revmatologie normy   MeSH
• ROC křivka MeSH
• sexuální faktory MeSH
• stupeň závažnosti nemoci * MeSH
• věkové faktory MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

x

x

• MeSH
• genotypizační techniky MeSH
• hlášení nemocí MeSH
• lidé MeSH
• Streptococcus pyogenes * izolace a purifikace   patogenita   MeSH
• streptokokové infekce * epidemiologie   MeSH
• věkové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• grafy a diagramy MeSH
• Geografické názvy
• Česká republika MeSH

Esophageal cancer (EC) and gastric cancer (GC) are fatal cancers with a relatively late age of onset. Age is a negative risk factor for survival in many cancers and our aim was to analyze age-specific survival in EC and GC using the recently updated NORDCAN database. NORDCAN data originate from the Danish, Finnish, Norwegian, and Swedish nationwide cancer registries covering years 1972 through 2021 inviting for comparison of 50-year survival trends between the countries. Relative 1- and 5-year survival and 5/1-year conditional survival (i.e., survival in those who were alive in Year 1 to survive additional 4 years) were analyzed. Survival in EC showed large gains for patients below age 80 years, 5-year survival in Norwegian men reaching 30% and in women over 30% but for 80-89 year old survival remained at 10%. In contrast, hardly any gain was seen among the 80-89 year patients for 1-year survival and small gains in 5 year and 5/1-year survival. Survival gaps between age-groups increased over time. For GC there was also a clear age-related negative survival gradient but the survival gaps between the age groups did not widen over time; Norwegian male and female 5-year survival for 80-89 year old was about 20%. The age-specific survival difference in GC arose in Year 1 and did not essentially increase in 5-year survival. While there were differences in survival improvements between the countries, poor survival of the 80-89 year old patients was shared by all of them. To conclude, survival has improved steadily in younger GC and EC patients in most Nordic countries. While the 80-89 year old population accounts for nearly a quarter of all patients and their poor survival depressed overall survival, which can therefore be increased further by improving diagnostics, treatment and care of elderly EC and GC patients.

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• míra přežití MeSH
• nádory jícnu * mortalita   epidemiologie   MeSH
• nádory žaludku * mortalita   epidemiologie   MeSH
• registrace * MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• věkové faktory 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
• Geografické názvy
• Skandinávie a severské státy MeSH

BACKGROUND: Genetic factors are involved in the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS) and constitute a link to its association with frontotemporal dementia (FTD). Gene-targeted therapies for some forms of ALS (C9orf72, SOD1) have recently gained momentum. Genetic architecture in Czech ALS patients has not been comprehensively assessed so far. OBJECTIVE: We aimed to deliver pilot data on the genetic landscape of ALS in our country. METHODS: A cohort of patients with ALS (n = 88), recruited from two Czech Neuromuscular Centers, was assessed for hexanucleotide repeat expansion (HRE) in C9orf72 and also for genetic variations in other 36 ALS-linked genes via next-generation sequencing (NGS). Nine patients (10.1%) had a familial ALS. Further, we analyzed two subgroups of sporadic patients - with concomitant FTD (n = 7) and with young-onset of the disease (n = 22). RESULTS: We detected the pathogenic HRE in C9orf72 in 12 patients (13.5%) and three other pathogenic variants in FUS, TARDBP and TBK1, each in one patient. Additional 7 novel and 9 rare known variants with uncertain causal significance have been detected in 15 patients. Three sporadic patients with FTD (42.9%) were harbouring a pathogenic variant (all HRE in C9orf72). Surprisingly, none of the young-onset sporadic patients harboured a pathogenic variant and we detected no pathogenic SOD1 variant in our cohort. CONCLUSION: Our findings resemble those from other European populations, with the highest prevalence of HRE in the C9orf72 gene. Further, our findings suggest a possibility of a missing genetic variability among young-onset patients.

• MeSH
• amyotrofická laterální skleróza * genetika   MeSH
• DNA vazebné proteiny genetika   MeSH
• dospělí MeSH
• expanze repetic DNA * MeSH
• frontotemporální demence * genetika   MeSH
• genetická predispozice k nemoci MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• protein C9orf72 * genetika   MeSH
• protein FUS vázající RNA genetika   MeSH
• protein-serin-threoninkinasy genetika   MeSH
• senioři MeSH
• věk při počátku nemoci MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

It is unknown whether the currently known risk factors of multiple sclerosis reflect the etiology of progressive-onset multiple sclerosis (POMS) as observational studies rarely included analysis by type of onset. We designed a case-control study to examine associations between environmental factors and POMS and compared effect sizes to relapse-onset MS (ROMS), which will offer insights into the etiology of POMS and potentially contribute to prevention and intervention practice. This study utilizes data from the Primary Progressive Multiple Sclerosis (PPMS) Study and the Australian Multi-center Study of Environment and Immune Function (the AusImmune Study). This report outlines the conduct of the PPMS Study, whether the POMS sample is representative, and the planned analysis methods. The study includes 155 POMS, 204 ROMS, and 558 controls. The distributions of the POMS were largely similar to Australian POMS patients in the MSBase Study, with 54.8% female, 85.8% POMS born before 1970, mean age of onset of 41.44 ± 8.38 years old, and 67.1% living between 28.9 and 39.4° S. The POMS were representative of the Australian POMS population. There are some differences between POMS and ROMS/controls (mean age at interview: POMS 55 years vs. controls 40 years; sex: POMS 53% female vs. controls 78% female; location of residence: 14.3% of POMS at a latitude ≤ 28.9°S vs. 32.8% in controls), which will be taken into account in the analysis. We discuss the methodological issues considered in the study design, including prevalence-incidence bias, cohort effects, interview bias and recall bias, and present strategies to account for it. Associations between exposures of interest and POMS/ROMS will be presented in subsequent publications.

• MeSH
• chronicko-progresivní roztroušená skleróza * epidemiologie   etiologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• multicentrické studie jako téma MeSH
• recidiva MeSH
• rizikové faktory MeSH
• roztroušená skleróza * epidemiologie   etiologie   MeSH
• studie případů a kontrol MeSH
• věk při počátku nemoci MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Austrálie MeSH

OBJECTIVE: To investigate the impact of ageing on survival outcomes in Bacillus Calmette-Guérin (BCG) treated non-muscle invasive bladder cancer (NMIBC) patients and its synergy with adequate BCG treatment. METHOD: Patients with NMIBC who received BCG treatment from 2001 to 2020 were divided into group 1 (< = 70 years) and group 2 (> 70 years). Overall Survival (OS), Cancer-Specific Survival (CSS), Recurrence-Free Survival (RFS), and Progression-Free Survival (PFS) were analyzed using the Kaplan-Meier method. Multivariable Cox regression analysis was used to adjust potential confounding factors and to estimate Hazard Ratio (HR) and 95% Confidence Interval (CI). Subgroup analysis was performed according to adequate versus inadequate BCG treatment. RESULTS: Overall, 2602 NMIBC patients were included: 1051 (40.4%) and 1551 (59.6%) in groups 1 and 2, respectively. At median follow-up of 11.0 years, group 1 (< = 70 years) was associated with better OS, CSS, and RFS, but not PFS as compared to group 2 (> 70 years). At subgroup analysis, patients in group 1 treated with adequate BCG showed better OS, CSS, RFS, and PFS as compared with inadequate BCG treatment in group 2, while patients in group 2 receiving adequate BCG treatment had 41% less progression than those treated with inadequate BCG from the same group. CONCLUSIONS: Being younger (< = 70 years) was associated with better OS, CSS, and RFS, but not PFS. Older patients (> 70 years) who received adequate BCG treatment had similar PFS as those younger with adequate BCG treatment.

• MeSH
• adjuvancia imunologická * terapeutické užití   MeSH
• aplikace intravezikální MeSH
• BCG vakcína * terapeutické užití   MeSH
• invazivní růst nádoru * MeSH
• lidé středního věku MeSH
• lidé MeSH
• míra přežití MeSH
• nádory močového měchýře neinvadující svalovinu MeSH
• nádory močového měchýře * farmakoterapie   patologie   terapie   mortalita   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• věkové faktory MeSH
• výsledek terapie 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

• MeSH
• dítě MeSH
• horní končetina diagnostické zobrazování   MeSH
• korelace dat MeSH
• lidé MeSH
• mladiství MeSH
• rentgendiagnostika panoramatická MeSH
• statistika jako téma MeSH
• určení kostního věku metody   statistika a číselné údaje   MeSH
• určení zubního věku * metody   MeSH
• věkové faktory MeSH
• vývoj dítěte MeSH
• zuby růst a vývoj   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH