827 resultados para Cognitive Function
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Pós-graduação em Ciências da Motricidade - IBRC
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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With the growing aging population will be an increase of chronic degenerative diseases such as dementia. Among the various forms of dementia Alzheimer’s disease (AD) is the most prevalent. In individuals with AD, there is a loss in the processing of sensory information, which may aggravate the imbalance and falls. As the disease progresses, the individual lose the ability to function independently, becoming dependent on a caregiver. This study aimed to analyze the balance of the mental state and quality of life of individuals with AD, to determine whether a correlation exists between these variables and analyze the influence on quality of life of caregivers. This study was conducted with thirty individuals (82.86 ± 9.07 years) with AD, both sexes, and their caregivers. The evaluation of the balance was accomplished by the Scale of Functional Balance of Berg (EEFB), the cognitive function for the Mini-exam of the Mental State (MEEM), and the quality of life (QV) for the scale “life Quality - Disease of Alzheimer “ (QdV - DA) that is composed for three versions: patient, caregiver and family The data were analyzed by coefficient of correlation of Spearman. The balance analyses (EEFB=32,17 ± 13,26 points) shows increased in the risk of falls in the elderly and negative correlation (R = - 0,55, p <0,01) with age and good correlation with MEEM (R=0,63 p <0,01). Already in relation of the MEEM and QV, can observed correlation between the familiar version and the MEEM ((R=0,40 p=0,02). In Relation the versions of the QV questionnaire, found significant correlation among: QdV-DA patient X caregiver (R=0,41 p=0,02), QdV-DA patient X family (R=0,40 p=0,03). In this way we can conclude that the individuals with DA, appraised in this study, present a deficit in the balance, so much related with the age as with to the cognitive decline, and the greater the cognitive decline worse the impression of caring about the QOL of their family, and still, that the worsening in the quality of the patient’s life contemplates in a worsening in the quality of your caregiver’s life.
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Pós-graduação em Genética e Melhoramento Animal - FCAV
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Pós-graduação em Ciências da Motricidade - IBRC
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.
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Pós-graduação em Ciências da Motricidade - IBRC
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)