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,
AIMS: The cardiac conduction system (CCS) is progressively specified during development by interactions among a discrete number of transcription factors (TFs) that ensure its proper patterning and the emergence of its functional properties. Meis genes encode homeodomain TFs with multiple roles in mammalian development. In humans, Meis genes associate with congenital cardiac malformations and alterations of cardiac electrical activity; however, the basis for these alterations has not been established. Here, we studied the role of Meis TFs in cardiomyocyte development and function during mouse development and adult life. METHODS AND RESULTS: We studied Meis1 and Meis2 conditional deletion mouse models that allowed cardiomyocyte-specific elimination of Meis function during development and inducible elimination of Meis function in cardiomyocytes of the adult CCS. We studied cardiac anatomy, contractility, and conduction. We report that Meis factors are global regulators of cardiac conduction, with a predominant role in the CCS. While constitutive Meis deletion in cardiomyocytes led to congenital malformations of the arterial pole and atria, as well as defects in ventricular conduction, Meis elimination in cardiomyocytes of the adult CCS produced sinus node dysfunction and delayed atrio-ventricular conduction. Molecular analyses unravelled Meis-controlled molecular pathways associated with these defects. Finally, we studied in transgenic mice the activity of a Meis1 human enhancer related to an single-nucleotide polymorphism (SNP) associated by Genome-wide association studies (GWAS) to PR (P and R waves of the electrocardiogram) elongation and found that the transgene drives expression in components of the atrio-ventricular conduction system. CONCLUSION: Our study identifies Meis TFs as essential regulators of the establishment of cardiac conduction function during development and its maintenance during adult life. In addition, we generated animal models and identified molecular alterations that will ease the study of Meis-associated conduction defects and congenital malformations in humans.
- MeSH
- Action Potentials MeSH
- Phenotype MeSH
- Homeodomain Proteins * genetics metabolism MeSH
- Myocytes, Cardiac * metabolism pathology MeSH
- Myocardial Contraction MeSH
- Mice, Knockout MeSH
- Sinoatrial Node metabolism physiopathology MeSH
- Heart Conduction System * metabolism physiopathology growth & development MeSH
- Arrhythmias, Cardiac physiopathology metabolism genetics MeSH
- Heart Rate * MeSH
- Myeloid Ecotropic Viral Integration Site 1 Protein * genetics metabolism deficiency MeSH
- Age Factors MeSH
- Heart Defects, Congenital metabolism genetics physiopathology MeSH
- Gene Expression Regulation, Developmental MeSH
- Animals MeSH
- Check Tag
- Animals MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Cognitive impairment in Parkinson's disease (PD) is a key non-motor complication during the disease course. OBJECTIVES: A review of detailed cognitive instruments to detect mild cognitive impairment (PD-MCI) or dementia (PDD) is needed to establish optimal tests that facilitate diagnostic accuracy. METHODS: We performed a systematic literature review of tests that assess memory, language including premorbid intelligence, and visuospatial domains (for tests of attention and executive functions see accompanying review) to determine suitability to assess cognition in PD. Based on in-depth scrutiny of psychometric and other relevant clinimetric properties, tests were rated as "recommended," "recommended with caveats," "suggested," or "listed" by the International Parkinson and Movement Disorder Society (IPMDS) panel of experts according to the IPMDS Clinical Outcome Assessment Scientific Evaluation Committee guidelines. RESULTS: We included 39 tests encompassing 48 outcome measures. Seven tests (different versions or subtests of the test counted once) were recommended, including four for memory, one for visuospatial domains, one for language (including three measures), and one for estimated premorbid intelligence. Furthermore, 10 tests (12 measures) were "recommended with caveats," 11 were "suggested," and 11 (15 measures) were "listed." CONCLUSIONS: Recommended neuropsychological tests in memory, visuospatial functions, and language are proposed to guide the assessment of cognitive impairment and its progression in PD-MCI and PDD, and for use in clinical trials to stratify participants or as outcome measures. Novel measures being developed will need extensive validation research to be "recommended." © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
- MeSH
- Language * MeSH
- Cognitive Dysfunction * diagnosis etiology MeSH
- Humans MeSH
- Neuropsychological Tests * standards MeSH
- Memory * physiology MeSH
- Parkinson Disease * complications MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Systematic Review MeSH
Smooth endoplasmic reticulum aggregates (SERa) are a type of dysmorphism in oocytes derived from controlled ovarian stimulation (COS). The effect of SERa on assisted reproductive techniques (ART) outcomes is debatable. Based on some evidence, SERa-positive (SERa+) oocytes cause complications including newborn demise, and compromise the outcome of the unaffected oocytes of the same cycle. While other reports demonstrated equal developmental competence between SERa + and SERa-negative (SERa-) oocytes/cycles. We conducted a prospective cross-sectional study on 315 women candidates for ART and compared the outcome among SERa+ (N = 73) and SERa- cycles (N = 217). Furthermore, for the first time, we investigated the prevalence of SERa + cycles in women with various infertility etiologies. Our results indicated that SERa + patients presented higher levels of Estradiol on the day of ovulation triggering (p = 0.02). Regarding the ART outcome, there were no differences in the number of retrieved oocytes, oocyte maturation and fertilization rates among the groups. However, the quality of the unaffected oocytes (p = 0.03), the rates of day-3 top-quality embryos (p = 0.01, and p = 0.03 for grades A and B, respectively), and clinical pregnancy (p = 0.05) in SERa + group were significantly reduced. Moreover, the prevalence of SERa + cycles gradually increased among endometriosis, POI/POR, PCOS, normal women, tubal factor, and idiopathic groups. Our study suggests that suboptimal situations such as elevated levels of Estradiol can increase the occurrence of SERa + oocytes. This suboptimal phenomenon can negatively influence the outcome of the cycle. Thus, optimization of COS, particularly in vulnerable groups such as women with idiopathic infertility may lower the SERa + cycle occurrence, improving the ART outcome.
- MeSH
- Reproductive Techniques, Assisted adverse effects MeSH
- Adult MeSH
- Endoplasmic Reticulum, Smooth * metabolism MeSH
- Ovulation Induction * adverse effects MeSH
- Humans MeSH
- Oocytes * MeSH
- Prospective Studies MeSH
- Cross-Sectional Studies MeSH
- Pregnancy MeSH
- Pregnancy Rate MeSH
- Infertility, Female * pathology etiology MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
The outcome of tooth autotransplantation depends mainly on the transplant tooth's anatomy-the type of donor tooth and the developmental stage of root formation. Mature teeth display a higher complication rate due to lower pulp revascularization potential, requiring root canal treatment (RCT) pre- or postoperatively to avoid postoperative complications, which extends treatment duration and cost. This report details a 39-year-old patient's autotransplantation of a mature wisdom tooth to replace the first molar after unsuccessful root canal retreatment. During the surgery, an extraoral root resection of the transplanted tooth was performed prior to placement to avoid the need to elevate the Schneiderian membrane, which displayed imperfect healing following the surgical removal of a cystic lesion in the maxillary sinus. RCT was not performed before nor after the procedure. At the 3-year follow-up, the tooth was asymptomatic. The vitality of the autotransplanted tooth was difficult to determine using standard vitality tests, which depend on patients' subjective responses, but the use of pulse oximetry objectively confirmed this. This case not only shows the possibility of a mature tooth transplant revascularization in an older patient but also gives a possible postoperative protocol of how to objectively confirm and measure the revascularization of the autotransplanted tooth.
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Cíl: Cílem výzkumu bylo posouzení kognitivních funkcí u seniorů v domovech pro seniory prostřednictvím standardizovaných testů – Montrealský kognitivní test (MoCA) a Pojmenování obrázků a jejich vybavení (POBAV). Metodika: Výzkum zahrnoval 76 klientů ze tří domovů pro seniory. Hodnocení kognitivních funkcí bylo provedeno standardizovanými testy MoCA a POBAV (ježková verze). Statistické zpracování bylo provedeno na hladině významnosti a = 0,05. Výsledky: Průměrný skór v MoCA byl 20 bodů, průměrné výsledky u POBAV byly 3/5. Normální kognitivní stav mělo dle MoCA (při hraničním skóre ≤ 24 bodů) 21 % seniorů a dle POBAV dosáhlo normy 25 % dotázaných. U obou testů MoCA a POBAV nebyl zjištěn statisticky významný rozdíl v úrovni kognitivních funkcí v závislosti na pohlaví, vzdělání ani na délce pobytu v domově pro seniory. Byl však prokázán statisticky významný rozdíl v úrovni kognitivních funkcí v závislosti na věku, kognitivním tréninku i na kondičním cvičení a bylo zjištěno, že osoby absolvující kognitivní trénink a kondiční cvičení dosahují v obou testech lepších výsledků. Byla potvrzena shoda v detekci kognitivní poruchy pomocí MoCA a POBAV v 97 % případů. Mezi testy MoCA a POBAV byla zjištěna významná korelace. Pearsonův korelační koeficient mezi testy MoCA a POBAV – Chyby v pojmenování obrázků, znázorňuje negativní korelaci –0,625 (p < 0,001). Pearsonův korelační koeficient mezi testy MoCA a POBAV – Správně vybavené obrázky, představuje pozitivní korelaci 0,86 (p < 0,001). Závěr: Časný záchyt a monitoring kognitivního deficitu pomocí screeningových testů by měly být nedílnou součástí při poskytování dlouhodobé péče u seniorů. Test POBAV je vhodnou volbou pro včasný záchyt kognitivního deficitu a může sloužit jako srovnatelná alternativa testu MoCA.
Aim: The aim of the research was to assess cognitive functions of elderly people in nursing homes using standardized tests – Montreal Cognitive Assessment (MoCA) and Picture Naming and Immediate Recall (PICNIR). Methodology: The study included 76 clients from three nursing homes. The assessment of cognitive functions was carried out using the standardized tests MoCA and PICNIR (Hedgehog Version). Statistical processing was performed at a significance level of α = 0.05. Results: The average score in MoCA was 20 points, and the average results in PICNIR were 3/5. According to MoCA (with a threshold score of ≤ 24 points), 21% of elderly people had a normal cognitive state, and according to PICNIR, 25% of respondents reached the norm. No statistically significant difference in the level of cognitive functions was found in either the MoCA or PICNIR tests in relation to sex, education, or length of stay in the nursing home. However, a statistically significant difference in the level of cognitive functions was demonstrated in relation to age, cognitive training, and physical exercise, and it was found that individuals undergoing cognitive training and physical exercise achieved better results in both tests. A concordance in the detection of cognitive impairment using MoCA and PICNIR was confirmed in 97% of cases. A significant correlation was found between the MoCA and PICNIR tests. The Pearson correlation coefficient between MoCA and PICNIR – Mistakes in Naming demonstrated a negative correlation of –0.625 (P < 0.001). The Pearson correlation coefficient between MoCA and PICNIR – Correctly Recalled Picture Names indicated a positive correlation of 0.86 (P < 0.001). Conclusion: Early detection and monitoring of cognitive deficits using screening tests should be an integral part of providing long-term care for elderly people. The PICNIR test is a suitable choice for early detection of cognitive deficits and can serve as a comparable alternative to the MoCA test.
- MeSH
- Homes for the Aged statistics & numerical data MeSH
- Epidemiologic Studies MeSH
- Cognition MeSH
- Correlation of Data MeSH
- Humans MeSH
- Neurocognitive Disorders * diagnosis epidemiology MeSH
- Neuropsychological Tests * statistics & numerical data MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Mental Status and Dementia Tests statistics & numerical data MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
Rasopathies are genetic disorders often associated with developmental delay and intellectual disability. Noonan syndrome (NS) is one of the most common Rasopathies, caused by mutations in PTPN11 in more than 50% of cases. In mammalian neurons, PTPN11 controls the trafficking of postsynaptic glutamate receptors. This process is disrupted in neurons expressing PTPN11 variants associated with Rasopathies and is thought to contribute to the cognitive impairments in Noonan syndrome. Recent work revealed presynaptic impairments upon expression of RASopathy-linked PTPN11 variants in Drosophila. However, the presynaptic role of PTPN11 has not yet been addressed in mammals. Here, we investigated membrane trafficking of synaptic vesicles in cultured mouse cortical neurons expressing Rasopathy-associated PTPN11D61Y variant. We observed a significantly smaller readily releasable and total recycling pool of synaptic vesicles. The drop in synaptic vesicle release competence was accompanied by a decreased rate of SV retrieval. Interestingly, the presynaptic phenotype was evident in mature (DIV21) but not in immature (DIV12) neurons. Thus, our data reveal importance of balanced PTPN11 activity for normal trafficking of neurotransmitter-filled synaptic vesicles in the presynaptic ending of mature neurons.
- MeSH
- Cells, Cultured MeSH
- Mutation genetics MeSH
- Mice MeSH
- Neurons metabolism MeSH
- Aging genetics metabolism MeSH
- Synaptic Vesicles * metabolism MeSH
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 * metabolism genetics MeSH
- Animals MeSH
- Check Tag
- Mice MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Continuous caudal epidural analgesia used intraoperatively in children is an effective and safe technique. However, in preterm neonates, developmental factors may significantly affect levobupivacaine disposition, leading to variable pharmacokinetics, pharmacodynamics, and potential large-variable systemic toxicity of local anesthetics. OBJECTIVE: To our knowledge, this is the first case report describing the disposition of levobupivacaine used for intraoperative caudal epidural analgesia in a preterm neonate treated for the postoperative pain profile. METHOD: 4-days old neonate (postmenstrual age 35+5, weight 2140 g) with congenital anal atresia received continuous caudal epidural long-term analgesia (loading dose 1.694 mg/kg, initial infusion 0.34 mg/kg/hour) before correction surgery. The blood samples were obtained at 1.0, 1.5, 6.5, 12, and 36.5 h after the start of epidural infusion. The pharmacokinetic profile of levobupivacaine was determined by using the Stochastic Approximation Expectation Maximization algorithm. COMFORT and NIPS pain scores were used for the assessment of epidural analgesia. RESULTS: The levobupivacaine absorption rate constant, apparent volume of distribution, apparent clearance, and elimination half-life were 10.8 h-1, 0.9 L, 0.086 L/h, and 7.3 h, respectively. CONCLUSION: The results confirm our hypothesis of altered pharmacokinetics in the preterm neonate. Therefore, levobupivacaine therapy in these patients should be carefully monitored. Since therapeutic drug monitoring of levobupivacaine is not established in clinical routines, we suggest monitoring the intraoperative pain profile using validated scores. TRIAL REGISTRATION: EudraCT number: 2020-000595-37.
- MeSH
- Anesthetics, Local MeSH
- Bupivacaine * MeSH
- Child MeSH
- Adult MeSH
- Double-Blind Method MeSH
- Analgesia, Epidural * adverse effects methods MeSH
- Levobupivacaine therapeutic use MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Pain, Postoperative drug therapy etiology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Case Reports MeSH
BACKGROUND: Semantic and short-term episodic memory are impaired in some brain disorders including Alzheimer's disease. OBJECTIVE: Development and validation of an almost self-administered, but cognitively demanding four-minute test identifying very mild cognitive impairment (vMCI). METHODS: The innovative hedgehog PICture Naming and Immediate Recall (PICNIR) consisted of two parts. The first task was to write down the names of 20 black-and-white pictures to evaluate long-term semantic memory and language. The second task involves immediate recall and writing the names of as many previously named pictures as possible in one minute. The PICNIR is assessed using the number of naming errors (NE) and correctly recalled picture names (PICR). The PICNIR and a neuropsychological battery were administered to 190 elderly individuals living independently in the community. They were divided into those with vMCI (n = 43 with Montreal Cognitive Assessment (MoCA) 24 ± 3 points) and sociodemographically matched cognitively normal (CN) individuals (n = 147 with MoCA 26 ± 3). Both subgroups had predicted mean Mini-Mental State Examination scores of 28-29 points. RESULTS: Compared to CN, vMCI participants made more NE (0.3 ± 0.6 versus 0.6 ± 0.9; p = 0.02) and recalled fewer PICR (8.9 ± 2.2 versus 6.8 ± 2.2; p < 0.000001). Discriminative validity was satisfactory using the area under the ROC curve (AUC): 0.76 for PICR, 0.74 for MoCA, 0.67 for MoCA-five-word recall, and 0.59 for NE. The AUCs of PICR and MoCA were comparable and larger than those of MoCA five-point recall or NE. Logical Memory scores, RAVLT scores, Digit symbol, and animal fluency correlated with PICR. CONCLUSIONS: The picture-based PICNIR is an ultra-brief, sensitive cognitive test valid for assessing very mild cognitive impairment. Its effectiveness should be validated for other languages and cultures.
- MeSH
- Memory, Episodic * MeSH
- Cognitive Dysfunction * diagnosis psychology MeSH
- Memory, Short-Term physiology MeSH
- Humans MeSH
- Neuropsychological Tests * statistics & numerical data MeSH
- Reproducibility of Results MeSH
- Mental Recall * physiology MeSH
- Semantics MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Mental Status and Dementia Tests statistics & numerical data MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
OBJECTIVES: In this study, the trends and current situation of the injury burden as well as attributable burden to injury risk factors at global, regional, and national levels based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 are presented. STUDY DESIGN: To assess the attributable burden of injury risk factors, the data of interest on data sources were retrieved from the Global Health Data Exchange (GHDx) and analyzed. METHODS: Cause-specific death from injuries was estimated using the Cause of Death Ensemble model in the GBD 2019. The burden attributable to each injury risk factor was incorporated in the population attributable fraction to estimate the total attributable deaths and disability-adjusted life years. The Socio-demographic Index (SDI) was used to evaluate countries' developmental status. RESULTS: Globally, there were 713.9 million (95% uncertainty interval [UI]: 663.8 to 766.9) injuries incidence and 4.3 million (UI: 3.9 to 4.6) deaths caused by injuries in 2019. There was an inverse relationship between age-standardized disability-adjusted life year rate and SDI quintiles in 2019. Overall, low bone mineral density was the leading risk factor of injury deaths in 2019, with a contribution of 10.5% (UI: 9.0 to 11.6) of total injuries and age-standardized deaths, followed by occupational risks (7.0% [UI: 6.3-7.9]) and alcohol use (6.8% [UI: 5.2 to 8.5]). CONCLUSION: Various risks were responsible for the imposed burden of injuries. This study highlighted the small but persistent share of injuries in the global burden of diseases and injuries to provide beneficial data to produce proper policies to reach an effective global injury prevention plan.
- MeSH
- Global Health * statistics & numerical data MeSH
- Child MeSH
- Adult MeSH
- Global Burden of Disease * trends MeSH
- Incidence MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Cost of Illness MeSH
- Disability-Adjusted Life Years * MeSH
- Child, Preschool MeSH
- Cause of Death MeSH
- Wounds and Injuries * epidemiology mortality MeSH
- Risk Factors MeSH
- Aged MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH