7 resultados para Mental retardation - Genetic aspects
em Universidade Federal do Rio Grande do Norte(UFRN)
Resumo:
This research aimed to contribute to the characterization of a neuropsychological phenotype of adolescents with Down Syndrome (DS). A multicases study of six adolescents (three males and three females, aged 13 to 14 years) diagnosed with DS and treated at two institutions in the city of Natal (Brazil), was conducted. Participants were assessed using the methodological approach developed by Luria, which is composed by four complementary stages. The first one aimed to investigate the qualitative impact of DS in school life and social development of the adolescents; dimensions of behavior and social-affective aspects of the members of the study were investigated. In the second stage participants performed a battery of neuropsychological tests in order to identify strengths and weaknesses in their cognitive functioning. The third stage was incorporated into the second in order to analyze the quality of the activity of the participants along the quantitative evaluation, highlighting strategies used, errors produced among other indicators. Lastly, the fourth stage refers to the intervention with the participants. Although this is not a specific objective of the study, it is argued that the outcome of this research will subsidize the practice of different professionals working with this clinical group. The results of the first stage emphasized the presence of difficulties in social relationships and in school life of observed adolescents. In turn, the second and third stages pointed out to the presence of difficulties in tasks involving logical and abstract thinking, as well as difficulties in expressive language. In relation to visual memory, we observed a better performance in activities of lower complexity, ie, with less interference of executive functioning, particularly in terms of the functions of planning and initiative. Finally, it was found motor and mental retardation, affecting significantly the performance related to different cognitive areas. The results highlighted here can be considered as subsidies for future interventions, suggesting the need for developping projects that take into account different aspects constituents of the human subject, involving not only the individual with developmental changes, as well as their families, teachers, schools and society in general
Resumo:
Perciformes are dominant in the marine environment, characterized as the largest and most diverse fish group. Some families, as Gerreidae, popularly known as silver jennies, carapebas, or mojarras have a high economic potential to marine fish farming, natural explotation and game fishing. Genetic information of these species are of fundamental importance for their management and production. Despite exist over 13,000 marine fish species described, only 2% were cytogenetically analyzed and less than 1% have some reproductive characteristics known. Induced breeding, cytogenetic characterization and cryopreservation of gametes, represent important areas in applied fish studies. In this project cytogenetic analyzes were performed to acess genetic aspects of Gerreidae species, distributed in coastal and estuarine regions of Northeast Brazil. Different methods for identifying chromosomal regions were employed using conventional techniques (Ag-NORs, C-banding), staining with base-specific fluorochromes (DAPI-CMA3), and physical mapping of ribosomal genes 18S and 5S rDNA, through hybridization in situ with fluorescent probes (FISH). The six species analyzed showed remarkable chromosome conservatism. The 18S and 5S ribosomal genes when analyzed in phylogenetic perspective demonstrate varied evolutionary dynamics, suggesting ocurrence of stasis process in some groups and greater dynamism in others. Double FISH with 18S and 5S probes showed both how efficient cytotaxonomic markers in the homogeneous karyotypes of this group of species. The karyotypic pattern identified in addition to the evolutionary aspects of karyotype, are suggestive of existence of low potential of post-zygotic barrier, prompting further research to prospect for artificial interspecific hybridization of these species of commercial importance
Resumo:
Cytogenetic studies have been revealing a great diversity not detected, until then, in several families of fishes. Many of these groups, especially those that exhibit great diversity, like Perciformes and Siluriformes, possess species with difficult morphologic characterization, called cryptic species, commonly detected through karyotypic analyses, which reveals outstanding interespecific variations with relationship to the number and its chromosomal structures. Thus, the present work intends to contribute for the cytogenetic knowledge of marine and brackish fish species, because they peculiar life habits and by lack of cytogenetic data of your genetic aspects. Therefore, cytogenetic studies were developed in a species of Apogonidae (Perciformes), two species of sea catfishes of the family Ariidae (Siluriformes) and brackish fish Paurachenipterus galeatus (Siluriformes, Auchenipteridae), through C banding, Ag-NOR, use of base-specific flourochromes (DAPI and CMA3), as well as FISH (Fluorescent in situ hybridization) using ribosomal DNA probes 5S and 18S. The present results contribute to a better understanding of the processes of differentiation patterns and chromosome evolution in these groups. The use of other approaches (the morphology and molecular tools) will allow a larger understanding of the genetic and biological diversity of the Brazilian ichthyofauna.
Resumo:
Perciformes are dominant in the marine environment, characterized as the largest and most diverse fish group. Some families, as Gerreidae, popularly known as silver jennies, carapebas, or mojarras have a high economic potential to marine fish farming, natural explotation and game fishing. Genetic information of these species are of fundamental importance for their management and production. Despite exist over 13,000 marine fish species described, only 2% were cytogenetically analyzed and less than 1% have some reproductive characteristics known. Induced breeding, cytogenetic characterization and cryopreservation of gametes, represent important areas in applied fish studies. In this project cytogenetic analyzes were performed to acess genetic aspects of Gerreidae species, distributed in coastal and estuarine regions of Northeast Brazil. Different methods for identifying chromosomal regions were employed using conventional techniques (Ag-NORs, C-banding), staining with base-specific fluorochromes (DAPI-CMA3), and physical mapping of ribosomal genes 18S and 5S rDNA, through hybridization in situ with fluorescent probes (FISH). The six species analyzed showed remarkable chromosome conservatism. The 18S and 5S ribosomal genes when analyzed in phylogenetic perspective demonstrate varied evolutionary dynamics, suggesting ocurrence of stasis process in some groups and greater dynamism in others. Double FISH with 18S and 5S probes showed both how efficient cytotaxonomic markers in the homogeneous karyotypes of this group of species. The karyotypic pattern identified in addition to the evolutionary aspects of karyotype, are suggestive of existence of low potential of post-zygotic barrier, prompting further research to prospect for artificial interspecific hybridization of these species of commercial importance
Resumo:
The importance of identifying the consequence of the hours worked on people in society has been well recognized within Organizational and Work Psychology. From this point of view, the present research had the objective of analysing the effects of work regimes on the mental health of petroleum operators of Petrobrás. The sample totaled 144 subjects, corresponding to 27% of the work population. The mental health of the participants was evaluated using the following instruments of measurement: QSG-12, Scale of self-esteem, Scale of Positive and Negative Affections and the Scale of Valuable Attributes of IMST, each representing an empirical factor used to indicate and measure the five dimensions of mental health. The subjects perceptions of their work regime and the rest of their conditions of work were evaluated using scales of descriptive attributes of IMST, by applying a semi-structured questionnaire and by use of interviews. A socio-demographic file was used to collect information related to the biographical and socio-occupational profile of the worker sample. The answers to the questionnaire were inserted into the data bank of SPSS (Statistical Package for Social Science), for statistical analysis, and the interviews were analised based on the technique of Contents Analysis recommended by Bardin (1995). The main results revealed that one third of the worker sample were tense; however, the mental health of the majority was preserved. Cluster Analysis applied to the group of seven factors which measured the five dimensions of mental health identified four profiles of psychological well-being shared between members of the sample. It was observed that the people working in the system of Continuous Shift Alternation (TIR) and in the system of Pre-advising tended to present balanced and satisfactory profiles, while the ones which worked in the Administrative Field tended to present anxious and oscillating profiles, and thus were more affected psychologically. These were also the ones that also perceived the more negative aspects of their laborious conditions (reduced chances of self-improvement, physically stressful and financial resources below expectations with which to supply family and personal necessities. In agreement with the ecological model formulated by Warr (1987), the present study concluded that the positive and negative effects on the psychological well-being tended to occur as a consequence of the perceptions the petrol operators developed to face their work conditions
Resumo:
The Psychiatric Reform has brought profound changes in assistance to people affected by mental disorders and behavior. In this context, mental health workers have played decisive roles of great impact, acting driving the process. Objective: To evaluate the impact felt by working professionals, because of the daily work with people who have psychiatric disorders. Methodology: This is a search field, a quantitative approach, sectional, descriptive and applied. Data collection occurred through the Assessment Scale Impact of Working in Mental Health Services (IMPACT-BR) applied to mental health researchers city Mossoró - RN. Results: Participants in this study 87 professionals, mostly female married, which took charge of higher education, working on a single service, working in the area for more than six years, aged between 25 and 64 years. There were a low effect of overloading the professionals surveyed. Discussion: Our results corroborate findings in other surveys conducted previously, not identifying large impact load at work among professionals of mental health teams studied. Subscales studied the highest score was observed in measuring the impact of work on team functioning. It was observed that the greater age and duration of action, reduced the emotional impact at work, suggesting that the experience enhances safety in decisions made and the possibility of greater control over the demands of work. Final Thoughts: The work presented showed that the interactive relationships between professionals and users are not the causes of greatest impact in the workplace, although it revealed overload in relation to specific aspects such as: fear of being assaulted by a patient and the feeling of physical exhaustion the end of the workday. Further investigations should be conducted on this topic in order to contribute to the implementation of psychiatric reform proposed by advances both in terms of assistance to individuals and the quality of life in the work of the professionals involved
Resumo:
Neurodegenerative diseases are frequently studied due to the increasing number of cases associated with the populational ageing and to the impact on the conditions on the quality of life. Parkinson’s disease (DP) is the second most frequent neurodegenerative disease. Despite the fact that its etiology is not completely understood, it is known that DP is caused by environmental and genetic factors. Thus, the investigation of etiologic factors and mechanisms responsible for the changes that lead to DP may help early diagnostic and prevention. A possible association between DP and the common polymorphism of Brain Derived Neurotrophic Factor (BDNF) G196A (Val66Met) has been suggested by different studies with contrasting results. For this reason, the aim of this study is to investigate if the BDNF Val66Met polymorphism is related to susceptibility to DP in a cohort of Brazilian patients. Additionaly, we verify if the presence of the polymorphism implies in alterations in the BDNF whole blood concentrations, as well as variations in symptomatology. The sample comprised Brazilian patients accompanied by the neurology service of the Onofre Lopes University Hospital (HUOL) and healthy controls (CTRL). The motor aspects of DP were evaluated by Hoehn e Yahr Scale (HY), Unified Parkinson’s Disease Rating Scale (UPDRS) and Schwab & England Scale (SE). For the evaluation of non-motor symptoms were used the following instruments: Frontal Assessment Battery (BAF), Mini-Mental State Examination (MEEM), Beck Depression Inventory (IDB) and the Beck Anxiety Inventory (IAB). Blood samples were collected for BDNF Val66Met polymorphism genotyping and BDNF whole blood measurement. As expected, DP patients performed worse in motor, cognitive and emotional battery of questionnaires. Alleles distribution between DP and CTRL was not significantly different, but the A/G genotype was significantly associated with a protector factor for DP. In contrast, the G/G genotype was significantly associated with depression and anxiety development in DP patients. However, BDNF concentrations were not different between genotypes or groups. This is the first study of genetic association of this polymorphism with DP in Brazilian subjects and the first one that associate A/G genotype with protection against DP.