Publications by authors named "Florio E"

Article Synopsis
  • * Research indicates that the synthetic compound Trofinetide and nerve growth factor (rhNGF) may provide therapeutic benefits, as seen in both cell cultures and in vivo studies with mice lacking MECP2.
  • * Positive results from treatments with rhNGF showed improved cognitive and motor abilities in both male and female mouse models of Rett syndrome, with further analysis planned to explore underlying molecular mechanisms.
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Article Synopsis
  • Synaptic abnormalities are a key feature in various neurological disorders, and understanding their causes is essential for developing treatments.
  • Rett syndrome (RTT) is a rare disorder primarily affecting girls and is linked to mutations in a gene that impacts synaptic connectivity.
  • Recent findings emphasize the role of astrocytes (supportive brain cells) in RTT, showing that those lacking a specific protein release harmful substances that disrupt synapse formation, with elevated IL-6 levels contributing to these effects.
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Degeneration of dopaminergic neurons leads to Parkinson's disease (PD), characterized by reduced levels of striatal dopamine (DA) and impaired voluntary movements. DA replacement is achieved by levodopa treatment which in long-term causes involuntary movements or dyskinesia. Dyskinesia is linked to the pulsatile activation of D1 receptors of the striatal medium spiny neurons (MSNs) forming the direct output pathway (dMSNs).

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Background And Aim Of The Work: Intramedullary nailing is a fundamental tool for the treatment of meta-diaphyseal tibia fractures. While, in the past, the infrapatellar approach was the only one available, over the last few years, an alternative approach has been developed: the suprapatellar tibial nailing. This technique has shown some advantages over the other one.

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FXYD1 is a key protein controlling ion channel transport. FXYD1 exerts its function by regulating Na/K-ATPase activity, mainly in brain and cardiac tissues. Alterations of the expression level of the FXYD1 protein cause diastolic dysfunction and arrhythmias in heart and decreased neuronal dendritic tree and spine formation in brain.

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Rett syndrome (RTT) is a neurodevelopmental disorder that represents the most common genetic cause of severe intellectual disability in females. Most patients carry mutations in the X-linked gene, coding for the methyl-CpG-binding protein 2 (MeCP2), originally isolated as an epigenetic transcriptional factor able to bind methylated DNA and repress transcription. Recent data implicated a role for glia in RTT, showing that astrocytes express and that its deficiency affects their ability to support neuronal maturation by non-cell autonomous mechanisms.

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Hand hygiene, social distancing, and face covering are considered the first protection against Coronavirus spreading. The high demand during the COVID-19 emergency has driven a frenetic production and marketing of hand sanitizer gels. Nevertheless, the effect of the gelling agent and its amount on the effectiveness of alcohol-based hand sanitizers (ABHSs) needs to be clarified.

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Rhythmic gene expression is found throughout the central nervous system. This harmonized regulation can be dependent on- and independent of- the master regulator of biological clocks, the suprachiasmatic nucleus (SCN). Substantial oscillatory activity in the brain's reward system is regulated by dopamine.

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Background: Among the various complications associated with total hip arthroplasty (THA) periprosthetic osteolysis and wear phenomena due to the release of metal particles, are two of the most common and have been reported to be correlated because of inflammatory responses directed towards released particles that generally activate macrophagic osteolytic effects. Therein, new masses known as pseudotumors can appear in soft tissues around a prosthetic implant. To date, there is paucity of reliable data from studies investigating for any association between the above mentioned adverse events.

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Background: Over the past years medical centres specifically addressed in gender-based violence have developed protocols for the collections of evidence useful in the courtroom, including accurate documentation of physical and psychological states of the victim and collection of samples. Previous studies showed an association between documented physical trauma and conviction but unfortunately, few studies in the recent literature analysed the factors that influence the legal outcome and final judgement. The present study focused on the elements that appeared of significance in the legal outcome, including medico-legal evaluation, source of the crime report and circumstance of the assault.

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In the context of externalising behaviour problems, risk factor research (RFR) focuses on risk and protective factors of juvenile delinquency, which can pertain to individual, system, and societal levels. Several instruments aiming at measuring these factors have been developed, but a comprehensive research tool is missing. The aim of the present study was to develop and validate a questionnaire, the "Family, Peers, and Externalising Behaviour in adolescence" (FPEB) as a tool for assessing adolescents' tendency of externalising behaviour, the quality of relation with their parents, and peer-relations.

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The present contribute focuses on the concept of "Black Pedagogy" (Rutschky, 1977; ISBN: 3548356702), meant as a set of educational practices assimilable into those that nowadays are included in the frame of physical and psychological maltreatment (e.g., corporal punishment, frightening children, etc.

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Article Synopsis
  • The study examines how social media and the Internet may contribute to adolescents' involvement in self-harm activities, particularly in the context of the Blue Whale Challenge.
  • It uses latent class analysis to categorize adolescents based on their beliefs about peer motivations for participating in the challenge, finding two main groups: one sees themselves as the initiators (internal causality) and the other views recruiters as the main influence (external causality).
  • Results indicate that teens with higher stress and risk-taking tendencies are more likely to believe their peers are the driving force behind their participation in such harmful online challenges, suggesting a need for targeted preventive strategies.
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Background: Programmed epigenetic modifications occurring at early postnatal brain developmental stages may have a long-lasting impact on brain function and complex behavior throughout life. Notably, it is now emerging that several genes that undergo perinatal changes in DNA methylation are associated with neuropsychiatric disorders. In this context, we envisaged that epigenetic modifications during the perinatal period may potentially drive essential changes in the genes regulating brain levels of critical neuromodulators such as D-serine and D-aspartate.

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The authors analyzed the injury pattern of 385 victims of fall from a height which underwent a complete autopsy, with the objective to investigate whether it was possible to construct a mathematical model to be used for height of the fall diagnosis. The cases were selected and enrolled according to a balanced stratification of the heights of the fall, allowing a subdivision into seven classes consisting of 55 subjects each: 6m or less, 9m, 12m, 15m, 18m, 21m, 24m or more (maximum 36m). For each case anthropologic and necroscopic data was collected and analyzed to obtain a standardized description of the injury pattern was obtained, dividing the body into 4 major anatomical areas (Head, Thorax, Abdomen, Skeleton), each of them further divided in 5 major organs.

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Molecular differentiation between benign (follicular thyroid adenoma, FTA) and malignant (follicular thyroid carcinoma, FTC) thyroid neoplasms is challenging. Here, we explored the genome-wide DNA methylation profile of FTA (n.10) and FTC (n.

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The spatio-temporal regulation of genes involved in the synthesis and degradation of D-serine and D-aspartate such as serine racemase (SR), D-amino acid oxidase (DAO), G72 and D-aspartate oxidase (DDO), play pivotal roles in determining the correct levels of these D-amino acids in the human brain. Here we provide a comprehensive analysis of mRNA expression and DNA methylation status of these genes in post-mortem samples from hippocampus, dorsolateral prefrontal cortex, and cerebellum from patients with schizophrenia and non-psychiatric controls. DNA methylation analysis was performed at an ultradeep level, measuring individual epialleles frequency by single molecule approach.

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It is long acknowledged that the -methyl d-aspartate receptor co-agonist, d-serine, plays a crucial role in several -methyl d-aspartate receptor-mediated physiological and pathological processes, including schizophrenia. Besides d-serine, another free d-amino acid, d-aspartate, is involved in the activation of -methyl d-aspartate receptors acting as an agonist of this receptor subclass, and is abundantly detected in the developing human brain. Based on the hypothesis of -methyl d-aspartate receptor hypofunction in the pathophysiology of schizophrenia and considering the ability of d-aspartate and d-serine to stimulate -methyl d-aspartate receptor-dependent transmission, in the present work we assessed the concentration of these two d-amino acids in the dorsolateral prefrontal cortex and hippocampus of patients with schizophrenia and healthy subjects.

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Genome-wide methylation analysis is limited by its low coverage and the inability to detect single variants below 10%. Quantitative analysis provides accurate information on the extent of methylation of single CpG dinucleotide, but it does not measure the actual polymorphism of the methylation profiles of single molecules. To understand the polymorphism of DNA methylation and to decode the methylation signatures before and after DNA damage and repair, we have deep sequenced in bisulfite-treated DNA a reporter gene undergoing site-specific DNA damage and homologous repair.

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Alterations of microbiota-gut-brain axis have been invoked in the pathogenesis of autism spectrum disorders (ASD). Mouse models could represent an excellent tool to understand how gut dysbiosis and related alterations may contribute to autistic phenotype. In this study we paralleled gut microbiota (GM) profiles, behavioral characteristics, intestinal integrity and immunological features of colon tissues in BTBR T + tf/J (BTBR) inbred mice, a well established animal model of ASD.

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Periodontitis is one of the most common oral inflammatory diseases, and results in connective tissue degradation and gradual tooth loss. It manifests with formation of periodontal pockets, in which anaerobic and Gram‑negative bacteria proliferate rapidly. Consequently, alteration of the subgingival microbiota is considered the primary etiologic agent of periodontitis.

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Crohn's disease (CD) is a chronic inflammation of the intestinal mucosa, characterized by periods of acute recurrence and remission. Depending on the specific region affected, CD is classified as ileal CD or colonic CD. It is largely accepted that the intestinal microbiota is involved in the onset of the pathology.

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Background: CpG sites in an individual molecule may exist in a binary state (methylated or unmethylated) and each individual DNA molecule, containing a certain number of CpGs, is a combination of these states defining an epihaplotype. Classic quantification based approaches to study DNA methylation are intrinsically unable to fully represent the complexity of the underlying methylation substrate. Epihaplotype based approaches, on the other hand, allow methylation profiles of cell populations to be studied at the single molecule level.

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We performed ultra-deep methylation analysis at single molecule level of the promoter region of developmentally regulated D-Aspartate oxidase (Ddo), as a model gene, during brain development and embryonic stem cell neural differentiation. Single molecule methylation analysis enabled us to establish the effective epiallele composition within mixed or pure brain cell populations. In this framework, an epiallele is defined as a specific combination of methylated CpG within Ddo locus and can represent the epigenetic haplotype revealing a cell-to-cell methylation heterogeneity.

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DNA methylation is often analyzed by reporting the average methylation degree of each cytosine. In this study, we used a single molecule methylation analysis in order to look at the methylation conformation of individual molecules. Using D-aspartate oxidase as a model gene, we performed an in-depth methylation analysis through the developmental stages of 3 different mouse tissues (brain, lung, and gut), where this gene undergoes opposite methylation destiny.

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