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Introduction: Autism spectrum disorders (ASD) are the most prevalent neurobiological disorders in children. The etiology comprises genetic, epigenetic, and environmental factors such as dysfunction of the immune system. Epigenetic mechanisms are mainly represented by DNA methylation, histone modifications, and microRNAs (miRNA). The major explored epigenetic mechanism is mediated by miRNAs which target genes known to be involved in ASD pathogenesis. Salivary poly-omic RNA measurements have been associated with ASD and are helpful to differentiate ASD endophenotypes. This study aims to comprehensively examine miRNA expression in children with ASD and to reveal potential biomarkers and possible disease mechanisms so that they can be used to improve faction between individuals by promoting more personalized therapeutic approaches. Materials and methods: Saliva samples were collected from 10 subjects: 5 samples of children with ASD and 5 from healthy controls. miRNAs were analyzed using an Illumina Next-Generation-Sequencing (NGS) system. Results: Preliminary data highlighted the presence of 365 differentially expressed miRNAs. Pathway analysis, molecular function, biological processes, and target genes of 41 dysregulated miRNAs were assessed, of which 20 were upregulated, and 21 were downregulated in children with ASD compared to healthy controls. Conclusion: The results of this study represent preliminary but promising data, as the identified miRNA pathways could represent useful biomarkers for the early non-invasive diagnosis of ASD.
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Proteomics is a recent field of research in molecular biology that can help in the fight against cancer through the search for biomarkers that can detect this disease in the early stages of its development. Proteomic is a speedily growing technology, also thanks to the development of even more sensitive and fast mass spectrometry analysis. Although this technique is the most widespread for the discovery of new cancer biomarkers, it still suffers of a poor sensitivity and insufficient reproducibility, essentially due to the tumor heterogeneity. Common technical shortcomings include limitations in the sensitivity of detecting low abundant biomarkers and possible systematic biases in the observed data. Current research attempts are trying to develop high-resolution proteomic instrumentation for high-throughput monitoring of protein changes that occur in cancer. In this review, we describe the basic features of the proteomic tools which have proven to be useful in cancer research, showing their advantages and disadvantages. The application of these proteomic tools could provide early biomarkers detection in various cancer types and could improve the understanding the mechanisms of tumor growth and dissemination.
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Biomarcadores Tumorais/genética , Neoplasias Pulmonares/diagnóstico , Proteínas de Neoplasias/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Proteômica/métodos , Biomarcadores Tumorais/sangue , Feminino , Expressão Gênica , Humanos , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Masculino , Proteínas de Neoplasias/sangue , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Pancreáticas/sangue , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Proteômica/instrumentação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Pesquisa Translacional BiomédicaRESUMO
Recently standardized diagnostic instruments have been developed in diagnostic and therapeutic procedures for Autism Spectrumv Disorders (ASD). According to the DSM-5 criteria, individuals with ASD must show symptoms from early childhood. These symptoms are communication deficits and restricted, repetitive patterns of behaviour. It was recently described by Bioinformatic analysis that 99 modified genes were associated with human autism. Gene expression patterns in the low-line animals show significant enrichment in autism-associated genes and the NMDA receptor gene family was identified among these. Using ultrasonic vocalizations, it was demonstrated that genetic variation has a direct impact on the expression of social interactions. It has been proposed that specific alleles interact with a social reward process in the adolescent mouse modifying their social interaction and their approach toward each other. In this review we report that the monoclonal antibody-derived tetrapeptide GLYX-13 was found to act as an N-methyl-D-aspartate receptor modulator and possesses the ability to readily cross the blood brain barrier. Treatment with the NMDAR glycine site partial agonist GLYX-13 rescued the deficit in the animal model. Thus, the NMDA receptor has been shown to play a functional role in autism, and GLYX-13 shows promise for the treatment of autism in autistic children.
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Transtornos Globais do Desenvolvimento Infantil/tratamento farmacológico , Glutamatos/metabolismo , Oligopeptídeos/uso terapêutico , Animais , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Modelos Animais de Doenças , Variação Genética , Humanos , Receptores de N-Metil-D-Aspartato/metabolismoRESUMO
BACKGROUND: Dental malocclusions can be considered not only as an oral health problem, because they are linked to quality of life perception. Many factors related to malocclusion have strong influences on the perception of facial esthetics (eg, anterior tooth alignment, tooth shape and position, lip thickness, symmetric gingival or tooth contour, lip profile, and overjet). Many reports have shown that the perception of facial esthetics can influence psychological development from early childhood to adulthood. The aim of this study is to investigate the effect of dental malocclusion on self-esteem in a sample of adolescents. MATERIALS AND METHODS: The study population was composed of 516 orthodontically untreated subjects (256 males) mean ages 13.75±1.977 years recruited from schools in the Campania region of Italy between January 2011 and July 2011. To evaluate the self-esteem grade in our population, all subjects filled out the Multidimensional Self Concept Scale questionnaire and attended an orthodontic clinical evaluation to estimate dental occlusal aspects. RESULTS: Pearson's analysis shows the relationship in our sample between some occlusal characteristics (crossbite and dental crowding) and aspects of self-concept evaluation (social, competence, academic, physical, and global score) of the Multidimensional Self Concept Scale questionnaire. Moreover, logistic regression analysis shows the potential role of dental crowding (odds ratio 5.359; 95% confidence interval 3.492-8.225) and crossbite (odds ratio 6.153; 95% confidence interval 3.545-10.678) as risk factors for development of global self-concept score abnormalities. CONCLUSION: Our findings confirm the relationship between psychosocial well-being, self-esteem, and dental malocclusion among adolescents.
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AIM: The objective of the study reported here was to assess the orthodontic features in children affected by developmental dyslexia (DD). PATIENTS AND METHODS: A total of 28 children affected by DD (22 boys, six girls; mean age: 9.78 ± 1.69 years) were compared with 51 healthy children (38 boys, 13 girls; mean age 9.41 ± 1.48; range 7-10 years). Reading and writing skills were evaluated along with orthodontic features. RESULTS: The DD and control groups were not significantly different in terms of total intelligence quotient (P = 0.441) and writing skills (P = 0.805 and P = 0.240, respectively), whereas significant differences were observed between the DD group and control group in both word reading (2.018 ± 1.714 vs 0.917 ± 0.563; P = 0.000) and non-word reading (2.537 ± 1.543 vs 0.862 ± 0.244; P = 0.000). Moreover, for many orthodontic features, there was no significant difference between the two groups; only in prevalence of diastemas (57.14%, P = 0.006), midline diastemas (46.42%, P = 0.007), overbite > 4 mm (71.42%, P = 0.006) and overjet > 4 mm (53.57%, P = 0.001), was there a statistically significant difference. According to univariate logistic regression analysis, the presence of diastemas (odds ratio [OR] 4.33; 95% confidence interval [CI] 1.61-11.65), midline diastemas (OR 4.68; 95% CI 1.61-13.43), an overbite >4 mm (OR 1.75; 95% CI 0.64-4.71), or an overjet >4 mm (OR 2.76; 95% CI 1.06-7.20) seems to play a role in the relationship between occlusal abnormalities and DD in children. CONCLUSION: Children with DD tend to present with altered dental features, particularly in the area of the incisors, suggesting that a persistently different tongue kinematic profile may thus affect both the developmental variability of the tongue and lip and the occlusion.