A5000530891- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Stress Responses and Cortisol
- Epigenetics and DNA Methylation
- Neuroscience and Neuropharmacology Research
- Chromosomal and Genetic Variations
- Memory and Neural Mechanisms
- Neuroinflammation and Neurodegeneration Mechanisms
- Down syndrome and intellectual disability research
- Multiple Sclerosis Research Studies
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Neuroendocrine regulation and behavior
- Academic Research in Diverse Fields
- Prenatal Screening and Diagnostics
- Mitochondrial Function and Pathology
- Nuclear Receptors and Signaling
- Neurogenesis and neuroplasticity mechanisms
- Business and Management Studies
- Cytokine Signaling Pathways and Interactions
- Glioma Diagnosis and Treatment
- Urban Development and Societal Issues
- Neurological Complications and Syndromes
- Lysosomal Storage Disorders Research
University of Coimbra
2020-2025
Otto-von-Guericke University Magdeburg
2015-2025
Universidade Federal do Paraná
2025
Hospital Sírio-Libanês
2024
Hospital de Santa Maria
2024
University of Lisbon
2024
Autodesk (United States)
2024
Universitat de Girona
2020
Barcelona Biomedical Research Park
2010-2016
Centre for Genomic Regulation
2013-2016
Cultivated murine bone marrow mesenchymal stem cells (MSCs) frequently accumulate chromosome abnormalities, become oncogenically transformed, and generate sarcomas when transplanted in mice. Although human MSCs appear to be more resistant, oncogenic transformation has also been observed cultivated past the senescence phase. Cell therapy for tissue regeneration using autologous requires transplantation of previously expanded vitro. Thus, an important concern is determine if a necessary...
Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females, associated in most cases to mutations the MECP2 gene. After an apparently normal prenatal and perinatal period, patients display arrest growth psychomotor development, with autistic behaviour, hand stereotypies mental retardation. Despite this classical description, researchers always questioned whether RTT did have subtle manifestations soon after birth. This issue was recently brought light by several studies...
Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and usually described as symmetric movements at the midline. However, related pathologies may show same type involuntary movement. Furthermore, patients with RTT also have other localizations that less well characterized.We analyzed in 83 RTT, 53 30 without mutation detected MECP2 gene. Patients were observed videotaped always by pediatric neurologist. Stereotypies classified, data submitted to statistical analysis for...
Abstract Mutations in the coding sequence of methyl‐CpG‐binding protein 2 gene ( MECP2 ), which cause Rett syndrome (RTT), have been found male and female autistic subjects without, however, a causal relation having unequivocally established. In this study, was scanned Portuguese population, hypothesizing that phenotypic spectrum mutations extends beyond traditional diagnosis RTT X‐linked mental retardation, leading to non‐lethal phenotype patients. The region, exon–intron boundaries, whole...
Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques used to characterize their chromosomal origin. Together the other cases available in literature 111 sSMC have now been detected connection otherwise clinically healthy persons and characterized for genetic content. According this study, 60% originated from 14 or 15. Euchromatic imbalances caused by presence 30% cases. Notably, 53%...
Purpose The main goal of this study is to develop accounting students’ solidarity with and sensitivity cooperation for sustainable development. This also aims analyze the role participatory learning activities in developing dimensions involvement, critical reflection thinking analysis. Design/methodology/approach empirical analyzes a case activity conducted seminars students from different universities Spain. After completing activity, completed questionnaire divided into four areas:...
<title>Abstract</title> Rett Syndrome (RTT), a neurodevelopmental disorder predominantly affecting females, is characterised by evolving symptoms impacting motor and sensory domains. Herein, we present study of longitudinal analyses, from 2- to 6-month age, <italic>Mecp</italic>2 heterozygous (<italic>Mecp2</italic>-het) female mice comprehensively explore pain perception in RTT. Interestingly, found significant variability the timing progression symptom onset among...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by moderately expanded CGG trinucleotide repeats in the 5′ untranslated region (UTR) of FMR1 gene. Characterized motor deficits such as action tremor and cerebellar gait ataxia, FXTAS further distinguished ubiquitin-positive intranuclear inclusions neurons glia. However, its clinical spectrum often overlaps with other conditions Parkinson’s disease (PD). Sensorimotor gating deficits,...
The Local Health Unit of Alentejo Litoral (ULSLA), is a healthcare network, from Portuguese National Healthcare System, covers 5310km2.and comprises one hospital and five primary care health units, serving population 105 000 patients- 26.4% aged over 65, 12% migrants, 28.6% with very low literacy. Ambulatory Care Medical (UMA) strategic alternative for the reorganization acute or chronic diseases, prioritizing ambulatory, easy access to care. UMA includes non-oncologic multipurpose Day...
A transformação digital no setor bancário tem remodelado a relação entre instituições financeiras e clientes, tornando-se um fator crucial para fidelização. Nos bancos públicos federais brasileiros, adoção de processos tecnológicos busca melhorar experiência do cliente, oferecendo maior agilidade, segurança conveniência. No entanto, essa modernização impõe desafios aos bancários, que precisam se adaptar novas exigências desenvolver competências digitais manter qualidade atendimento. Diante...
A inovação bancária tem sido impulsionada pelo avanço das Tecnologias Digitais da Informação e Comunicação (TDICs), promovendo mudanças estruturais operacionais no setor financeiro. No contexto organizacional, essas inovações não apenas modernizam os serviços bancários, mas também redefinem estratégias de gestão, relacionamento com clientes segurança digital. As instituições financeiras vêm adotando ferramentas como inteligência artificial, big data, blockchain computação em nuvem para...
<title>Abstract</title> Rett syndrome (RTT), a severe neurodevelopmental disorder primarily affecting girls, is commonly caused by <italic>MECP2</italic> loss-of-function mutations. Key symptoms include motor impairments, typical hand stereotypies and intellectual disability. Moreover, although not thoroughly studied, anxiety, heightened stress sensitivity, aberrant pain perception are also an important component of the RTT phenotype. Emerging evidence suggests that early-life (ELS) worsens...
O artigo aborda as mudanças no setor bancário impulsionadas pelas tecnologias digitais, destacando como a digitalização tem transformado profissões e os processos dentro das instituições financeiras. uso de ferramentas inteligência artificial, big data, blockchain automação revolucionado forma serviços bancários são oferecidos consumidos, facilitando personalização dos aumentando eficiência operacional. Entretanto, essas transformações trazem consigo desafios significativos, adaptação...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by preCGG repeat expansion in the FMR1 gene. Individuals with premutation often exhibit neuropsychiatric symptoms before FXTAS onset, leading to identification of fragile disorders (FXAND). Rodent models show motor impairments, pathological intranuclear inclusions, and heightened anxiety. However, early onset features underlying mechanisms remain poorly understood. To address above issues,...
Down syndrome (DS) or trisomy 21 is the result of a genetic dosage imbalance that translates in broad clinical spectrum. A major challenge study DS identification functional elements with wide impact on phenotypic alterations. Recently, miRNAs have been recognized as contributors to several disease conditions by acting post-transcriptional regulators plethora genes. Five chromosome (HSA21) found overexpressed individuals and could function key pathophysiology. Interestingly, trisomic Ts65Dn...
Panic attacks are a hallmark in panic disorder (PAND). During the attack, strong association with surrounding context is established suggesting that hippocampus may be critically involved pathophysiology of PAND, given its role contextual processing. We previously showed variation expression neurotrophin tyrosine kinase receptor type 3 (NTRK3) both PAND patients and transgenic mouse model (TgNTRK3) have pathophysiology. Our study examines hippocampal function activation brain fear network...
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked mutations in components regulators of Ras signaling pathway. Approximately 50% cases are caused PTPN11. However, molecular mechanisms underlying impairments patients still poorly understood. Here, we report generation characterization a new conditional mouse strain that expresses overactive...
Fear-related pathologies are among the most prevalent psychiatric conditions, having inappropriate learned fear and resistance to extinction as cardinal features. Exposure therapy represents a promising therapeutic approach, efficiency of which depends on inter-individual variation in learning, neurobiological basis is unknown. We characterized model whereby fear-conditioned mice were categorized (EXT)-success or EXT-failure, according their inherent ability extinguish fear. In lateral...