• MeSH
• pohyby očí MeSH
• psychomotorické poruchy MeSH
• sakadické oční pohyby MeSH

• Konspekt
• Psychologie
• NLK Obory
• oftalmologie
• psychologie, klinická psychologie
• NLK Publikační typ
• kolektivní monografie

Current diagnostic methods for dyslexia primarily rely on traditional paper-and-pencil tasks. Advanced technological approaches, including eye-tracking and artificial intelligence (AI), offer enhanced diagnostic capabilities. In this paper, we bridge the gap between scientific and diagnostic concepts by proposing a novel dyslexia detection method, called INSIGHT, which combines a visualisation phase and a neural network-based classification phase. The first phase involves transforming eye-tracking fixation data into 2D visualisations called Fix-images, which clearly depict reading difficulties. The second phase utilises the ResNet18 convolutional neural network for classifying these images. The INSIGHT method was tested on 35 child participants (13 dyslexic and 22 control readers) using three text-reading tasks, achieving a highest accuracy of 86.65%. Additionally, we cross-tested the method on an independent dataset of Danish readers, confirming the robustness and generalizability of our approach with a notable accuracy of 86.11%. This innovative approach not only provides detailed insight into eye movement patterns when reading but also offers a robust framework for the early and accurate diagnosis of dyslexia, supporting the potential for more personalised and effective interventions.

• MeSH
• čtení MeSH
• dítě MeSH
• dyslexie * patofyziologie   diagnóza   klasifikace   MeSH
• lidé MeSH
• neuronové sítě * MeSH
• oční fixace * fyziologie   MeSH
• pohyby očí fyziologie   MeSH
• technologie sledování pohybu očí * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The complex shape of embryonic cartilage represents a true challenge for phenotyping and basic understanding of skeletal development. X-ray computed microtomography (μCT) enables inspecting relevant tissues in all three dimensions; however, most 3D models are still created by manual segmentation, which is a time-consuming and tedious task. In this work, we utilised a convolutional neural network (CNN) to automatically segment the most complex cartilaginous system represented by the developing nasal capsule. The main challenges of this task stem from the large size of the image data (over a thousand pixels in each dimension) and a relatively small training database, including genetically modified mouse embryos, where the phenotype of the analysed structures differs from the norm. We propose a CNN-based segmentation model optimised for the large image size that we trained using a unique manually annotated database. The segmentation model was able to segment the cartilaginous nasal capsule with a median accuracy of 84.44% (Dice coefficient). The time necessary for segmentation of new samples shortened from approximately 8 h needed for manual segmentation to mere 130 s per sample. This will greatly accelerate the throughput of μCT analysis of cartilaginous skeletal elements in animal models of developmental diseases.

• MeSH
• chrupavka diagnostické zobrazování   MeSH
• deep learning * MeSH
• myši MeSH
• neuronové sítě MeSH
• počítačové zpracování obrazu metody   MeSH
• rentgenové záření MeSH
• vývojová biologie MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

At present, more and more researchers are applying tested mathematical-engineering methods into different domains of life. One of these areas is helping people with different forms of disabilities. Research in this area is focused on searching for the relation between clinical and electrophysiological symptoms of children with developmental dysphasia. Sleep EEG and speech analyses are the primary areas under discussion, while the finding of methods acceptable for improvement of the diagnosis and determination of therapeutic procedures is the research topic. It is possible to reduce fundamentally, or to cure optimally these disorders in advanced diagnosis. Therefore it is important to search for new methods and to combine what has been used separately till now.

• MeSH
• algoritmy MeSH
• databáze jako téma MeSH
• diagnóza počítačová metody   přístrojové vybavení   MeSH
• dítě MeSH
• elektroencefalografie MeSH
• epilepsie diagnóza   komplikace   MeSH
• financování organizované MeSH
• lidé MeSH
• neuronové sítě MeSH
• neuropsychologické testy MeSH
• počítačová simulace MeSH
• polysomnografie MeSH
• předškolní dítě MeSH
• referenční hodnoty MeSH
• shluková analýza MeSH
• studie případů a kontrol MeSH
• testy artikulace metody   přístrojové vybavení   MeSH
• výpočetní biologie MeSH
• vývojové poruchy řeči diagnóza   komplikace   patofyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• předškolní dítě MeSH

The neural crest (NC) is crucial for the evolutionary diversification of vertebrates. NC cells are induced at the neural plate border by the coordinated action of several signaling pathways, including Wnt/β-catenin. NC cells are normally generated in the posterior neural plate border, whereas the anterior neural fold is devoid of NC cells. Using the mouse model, we show here that active repression of Wnt/β-catenin signaling is required for maintenance of neuroepithelial identity in the anterior neural fold and for inhibition of NC induction. Conditional inactivation of Tcf7l1, a transcriptional repressor of Wnt target genes, leads to aberrant activation of Wnt/β-catenin signaling in the anterior neuroectoderm and its conversion into NC. This reduces the developing prosencephalon without affecting the anterior-posterior neural character. Thus, Tcf7l1 defines the border between the NC and the prospective forebrain via restriction of the Wnt/β-catenin signaling gradient.

• MeSH
• beta-katenin metabolismus   MeSH
• biologické markery metabolismus   MeSH
• buněčný rodokmen * MeSH
• crista neuralis cytologie   metabolismus   MeSH
• dánio pruhované metabolismus   MeSH
• defekty neurální trubice metabolismus   patologie   MeSH
• delece genu MeSH
• fenotyp MeSH
• integrasy metabolismus   MeSH
• lidé MeSH
• myši transgenní MeSH
• přední mozek embryologie   metabolismus   MeSH
• protein 1 podobný transkripčnímu faktoru 7 metabolismus   MeSH
• proteiny dánia pruhovaného metabolismus   MeSH
• represorové proteiny metabolismus   MeSH
• signální dráha Wnt MeSH
• transdiferenciace buněk MeSH
• transkripční faktor AP-2 metabolismus   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Clinical procedure for mild cognitive impairment (MCI) is mainly based on clinical records and short cognitive tests. However, low suspicion and difficulties in understanding test cut-offs make diagnostic accuracy being low, particularly in primary care. Artificial neural networks (ANNs) are suitable to design computed aided diagnostic systems because of their features of generating relationships between variables and their learning capability. The main aim pursued in that work is to explore the ability of a hybrid ANN-based system in order to provide a tool to assist in the clinical decision-making that facilitates a reliable MCI estimate. The model is designed to work with variables usually available in primary care, including Minimental Status Examination (MMSE), Functional Assessment Questionnaire (FAQ), Geriatric Depression Scale (GDS), age, and years of education. It will be useful in any clinical setting. Other important goal of our study is to compare the diagnostic rendering of ANN-based system and clinical physicians. A sample of 128 MCI subjects and 203 controls was selected from the Alzheimer's Disease Neuroimaging Initiative (ADNI). The ANN-based system found the optimal variable combination, being AUC, sensitivity, specificity, and clinical utility index (CUI) calculated. The ANN results were compared with those from medical experts which include two family physicians, a neurologist, and a geriatrician. The optimal ANN model reached an AUC of 95.2%, with a sensitivity of 90.0% and a specificity of 84.78% and was based on MMSE, FAQ, and age inputs. As a whole, physician performance achieved a sensitivity of 46.66% and a specificity of 91.3%. CUIs were also better for the ANN model. The proposed ANN system reaches excellent diagnostic accuracy although it is based only on common clinical tests. These results suggest that the system is especially suitable for primary care implementation, aiding physicians work with cognitive impairment suspicions.

• MeSH
• databáze faktografické statistika a číselné údaje   MeSH
• diagnóza počítačová metody   statistika a číselné údaje   MeSH
• kognitivní dysfunkce diagnóza   psychologie   MeSH
• lidé MeSH
• neuronové sítě * MeSH
• neuropsychologické testy * statistika a číselné údaje   MeSH
• plocha pod křivkou MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• senzitivita a specificita MeSH
• studie případů a kontrol MeSH
• systémy pro podporu klinického rozhodování * statistika a číselné údaje   MeSH
• výpočetní biologie MeSH
• Check Tag
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH

Cranial neural crest cells populate the future facial region and produce ectomesenchyme-derived tissues, such as cartilage, bone, dermis, smooth muscle, adipocytes, and many others. However, the contribution of individual neural crest cells to certain facial locations and the general spatial clonal organization of the ectomesenchyme have not been determined. We investigated how neural crest cells give rise to clonally organized ectomesenchyme and how this early ectomesenchyme behaves during the developmental processes that shape the face. Using a combination of mouse and zebrafish models, we analyzed individual migration, cell crowd movement, oriented cell division, clonal spatial overlapping, and multilineage differentiation. The early face appears to be built from multiple spatially defined overlapping ectomesenchymal clones. During early face development, these clones remain oligopotent and generate various tissues in a given location. By combining clonal analysis, computer simulations, mouse mutants, and live imaging, we show that facial shaping results from an array of local cellular activities in the ectomesenchyme. These activities mostly involve oriented divisions and crowd movements of cells during morphogenetic events. Cellular behavior that can be recognized as individual cell migration is very limited and short-ranged and likely results from cellular mixing due to the proliferation activity of the tissue. These cellular mechanisms resemble the strategy behind limb bud morphogenesis, suggesting the possibility of common principles and deep homology between facial and limb outgrowth.

• MeSH
• anatomické modely MeSH
• buněčná diferenciace * MeSH
• buněčné klony cytologie   MeSH
• crista neuralis cytologie   MeSH
• dánio pruhované MeSH
• ektoderm cytologie   embryologie   MeSH
• exprese genu MeSH
• fenotyp MeSH
• mezoderm cytologie   embryologie   MeSH
• morfogeneze * MeSH
• myši MeSH
• obličej embryologie   MeSH
• organogeneze * MeSH
• pohyb buněk MeSH
• reportérové geny MeSH
• zobrazování trojrozměrné MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

Úvod: Defekty neurálnej rúry (NTD) sú vrodené chyby CNS, ktoré vznikajú poruchou uzáveru. Vyskytujú sa na kraniálnom a kaudálnom konci. Autori v práci retrospektívne hodnotia vlastný súbor pacientov s kraniálnym NTD riešených na klinike detskej chirurgie s cieľom poukázať na optimálne načasovanie operácie, hlavne u detí s hydrocefalom. Materiál a metódy: Súbor pacientov s kraniálnymi NTD v rokoch 2000-2008 tvorí desať detí. Sedem pacientov malo okcipitálny typ, dvaja pacienti parietálny a jeden pacient frontoorbitálny typ. Sedem pacientov malo ventrikulomegáliu. Traja pacienti majú súčasne arachnoidálnu cystu. U šiestich pacientov bol kraniálny NTD operovaný hneď po narodení, dvaja pacienti s nezávažnou meningokélou boli riešení vo veku troch mesiacov a dvaja pacienti boli poukázaní neskôr. Dvaja pacienti s rozsiahlym kostným defektom boli riešení v dvoch dobách - uzáver kély a neskôr (v štyroch, resp. v šiestich rokoch) korekcia defektu v kosti. Spolu šesť detí má pre hydrocefalus ventrikuloperitoneálny (VP) zvod likvoru. Výsledky: V súbore pacientov sa osem detí vyvíja normálne, jedna pacientka ma ľahkú poruchu svalového tonusu a jedna pacientka výrazne zaostáva vo vývoji. Pacientka bola poukázaná neskoro s nezvládnutým hydrocefalom pre dekubity na hlave. Traja pacienti s hydrocefalom majú epilepsiu zvládnutú medikamentózne. Záver: Súbor pacientov je malý, napriek tomu sa zdá, že väčšina pacientov s kraniálnym NTD má šancu na normálny vývoj, aj deti s hydrocefalom. Na zaostávaní sa podieľa predovšetkým nezvládnutý hydrocefalus. Chirurgická korekcia NTD je rezervovaná pre novorodenecký prípadne dojčenský vek a rozhodujúcim pre vývoj je optimálne načasovanie riešenia hydrocefalu. Korekcia kostného defektu môže byť druhou dobou riešenia v neskoršom veku.

Introduction: Neural tube defects (NTD) are congenital malformations of the central nervous system caused by failure of fusion in the course of embryological development. They occur in both the caudal and the cranial region. The authors present a group of patients with cranial NTD treated at the Department of Paediatric Surgery in Bratislava. The aim is to point out the importance of timing for surgery, especially in the management of hydrocephalus. Materials and methods: Ten patients with cranial NTD were treated at our surgery unit during the period 2000-2008. Seven patients presented with the occipital type of NTD, two patients with the parietal type, and one patient with the fronto-orbital type. Seven patients were suffering from current ventriculomegaly, and arachnoid cyst was also diagnosed in three patients. Six patients were operated on immediately after their birth, the following two, with non-severe meningocele, were operated upon at the age of three months, while two patients were referred to the institution at more advanced ages. Two patients with large bone defect were managed by two-stage repair - closure of the cephalocele and later, at the ages of four and six years respectively, reconstruction of the bone defect. Six patients with hydrocephalus had a ventriculoperitoneal (VP) shunt. Results: A total of eight children are developing normally, one patient has a slight impairment of muscle tone, and one patient is lagging significantly in her development. She was admitted too late, with ulcerations as a complication of hydrocephalus. Three patients with hydrocephalus have pharmacologically managed epilepsy. Conclusion: The group of patients is too small for proof, but it appears that patients with cranial NTD have a good chance of normal development, including those with hydrocephalus. Impairment of development arises largely out of maladministration of hydrocephalus. The authors suggest early surgical treatment for all cranial NTD, with ventriculoperitoneal shunt in concomitant hydrocephalus. Correction of bone defect can be performed as secondary treatment for patients in which it persists into later age.

• MeSH
• defekty neurální trubice etiologie   genetika   chirurgie   MeSH
• diagnostické techniky neurologické využití   MeSH
• drenáž MeSH
• encefalokéla etiologie   chirurgie   komplikace   MeSH
• farmakoterapie metody   využití   MeSH
• hydrocefalus etiologie   chirurgie   komplikace   MeSH
• lidé MeSH
• meningokéla etiologie   chirurgie   komplikace   MeSH
• mozkomíšní mok MeSH
• neurochirurgické výkony metody   využití   MeSH
• retrospektivní studie MeSH
• statistika jako téma MeSH
• věkové faktory MeSH
• ventrikuloperitoneální zkrat metody   využití   MeSH
• výsledky a postupy - zhodnocení (zdravotní péče) MeSH
• zákroky plastické chirurgie metody   využití   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• kazuistiky MeSH

Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects. To understand the pathogenesis of this pleiotropy, we modeled an allelic series of POLR1A variants in vitro and in vivo. In vitro assessments demonstrate variable effects of individual pathogenic variants on ribosomal RNA synthesis and nucleolar morphology, which supports the possibility of variant-specific phenotypic effects in affected individuals. To further explore variant-specific effects in vivo, we used CRISPR-Cas9 gene editing to recapitulate two human variants in mice. Additionally, spatiotemporal requirements for Polr1a in developmental lineages contributing to congenital anomalies in affected individuals were examined via conditional mutagenesis in neural crest cells (face and heart), the second heart field (cardiac outflow tract and right ventricle), and forebrain precursors in mice. Consistent with its ubiquitous role in the essential function of ribosome biogenesis, we observed that loss of Polr1a in any of these lineages causes cell-autonomous apoptosis resulting in embryonic malformations. Altogether, our work greatly expands the phenotype of human POLR1A-related disorders and demonstrates variant-specific effects that provide insights into the underlying pathogenesis of ribosomopathies.

• MeSH
• apoptóza MeSH
• crista neuralis patologie   MeSH
• fenotyp MeSH
• kraniofaciální abnormality * genetika   patologie   MeSH
• lidé MeSH
• mandibulofaciální dysostóza * genetika   MeSH
• mutageneze MeSH
• myši MeSH
• ribozomy genetika   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

Extensive research in the field of stem cells and developmental biology has revealed evidence of the role of hypoxia as an important factor regulating self-renewal and differentiation. However, comprehensive information about the exact hypoxia-mediated regulatory mechanism of stem cell fate during early embryonic development is still missing. Using a model of embryoid bodies (EBs) derived from murine embryonic stem cells (ESC), we here tried to encrypt the role of hypoxia-inducible factor 1α(HIF1α) in neural fate during spontaneous differentiation. EBs derived from ESC with the ablated gene for HIF1αhad abnormally increased neuronal characteristics during differentiation. An increased neural phenotype inHif1α-/-EBs was accompanied by the disruption ofβ-catenin signaling together with the increased cytoplasmic degradation ofβ-catenin. The knock-in ofHif1α, as well asβ-catenin ectopic overexpression inHif1α-/-EBs, induced a reduction in neural markers to the levels observed in wild-type EBs. Interestingly, direct interaction between HIF1αandβ-catenin was demonstrated by immunoprecipitation analysis of the nuclear fraction of wild-type EBs. Together, these results emphasize the regulatory role of HIF1αinβ-catenin stabilization during spontaneous differentiation, which seems to be a crucial mechanism for the natural inhibition of premature neural differentiation.

• Publikační typ
• časopisecké články MeSH