954 resultados para developmental language disorder
Resumo:
Glutathione (GSH), a major redox regulator and anti-oxidant, is decreased in cerebrospinal fluid and prefrontal cortex of schizophrenia patients. The gene of the key GSH-synthesizing enzyme, glutamate-cysteine ligase, modifier (GCLM) subunit, is associated with schizophrenia, suggesting that the deficit in the GSH system is of genetic origin. Using the GCLM knock-out (KO) mouse model with 60% decreased brain GSH levels, we have shown that redox dysregulation results in abnormal brain morphology and function. Current theory holds that schizophrenia is a developmental disease involving progressive anatomical and functional brain pathology. Here, we used GCLM KO mice to investigate the impact of a genetically dysregulated redox system on the neurochemical profile of the developing brain. The anterior and posterior cortical neurochemical profile of male and female GCLM KO, heterozygous and wildtype mice was determined by localised in vivo 1H NMR spectroscopy at 14.1 T (Varian/Magnex spectrometer) on post-natal days 10, 20, 30, 60 and 90. We show, for the first time, (1) that high quality 1H NMR spectra can be acquired from early developing mouse brains and (2) that recurrent anaesthesia by itself when administered at the same developmental days has no adverse effects on brain metabolites nor on adult behaviour. (3) Most importantly, our results reveal genotype and age specific changes for a number of metabolites revealing insight into normal brain development and about the impact of genetic GSH dysregulation.
Resumo:
We report a boy, referred at 25 months following a dramatic isolated language regression antedating autistic-like symptomatology. His sleep electroencephalogram (EEG) showed persistent focal epileptiform activity over the left parietal and vertex areas never associated with clinical seizures. He was started on adrenocorticotropic hormone (ACTH) with a significant improvement in language, behavior, and in EEG discharges in rapid eye movement (REM) sleep. Later course was characterized by fluctuations/regressions in language and behavior abilities, in phase with recrudescence of EEG abnormalities prompting additional ACTH courses that led to remarkable decrease in EEG abnormalities, improvement in language, and to a lesser degree, in autistic behavior. The timely documentation of regression episodes suggesting an "atypical" autistic regression, striking therapy-induced improvement, fluctuation of symptomatology over time could be ascribed to recurrent and persisting EEG abnormalities.
Resumo:
Mutations in LACERATA (LCR), FIDDLEHEAD (FDH), and BODYGUARD (BDG) cause a complex developmental syndrome that is consistent with an important role for these Arabidopsis genes in cuticle biogenesis. The genesis of their pleiotropic phenotypes is, however, poorly understood. We provide evidence that neither distorted depositions of cutin, nor deficiencies in the chemical composition of cuticular lipids, account for these features, instead suggesting that the mutants alleviate the functional disorder of the cuticle by reinforcing their defenses. To better understand how plants adapt to these mutations, we performed a genome-wide gene expression analysis. We found that apparent compensatory transcriptional responses in these mutants involve the induction of wax, cutin, cell wall, and defense genes. To gain greater insight into the mechanism by which cuticular mutations trigger this response in the plants, we performed an overlap meta-analysis, which is termed MASTA (MicroArray overlap Search Tool and Analysis), of differentially expressed genes. This suggested that different cell integrity pathways are recruited in cesA cellulose synthase and cuticular mutants. Using MASTA for an in silico suppressor/enhancer screen, we identified SERRATE (SE), which encodes a protein of RNA-processing multi-protein complexes, as a likely enhancer. In confirmation of this notion, the se lcr and se bdg double mutants eradicate severe leaf deformations as well as the organ fusions that are typical of lcr and bdg and other cuticular mutants. Also, lcr does not confer resistance to Botrytis cinerea in a se mutant background. We propose that there is a role for SERRATE-mediated RNA signaling in the cuticle integrity pathway.
Resumo:
Disability, especially if related to a psychiatric disorder, such as somatoform pain disorder, is characterized by medical, psychological, relational, social and societal, as well as financial and political aspects. This manuscript, part of a PhD thesis which reflects on a possible dialogue between an ancient text and the modern conceptualization of disability, tries to address the phenomenological, historical and political dimensions of disability.
Resumo:
This study examines the effects of a borderline-specific treatment, called general psychiatric management, on emotional change, outcome and therapeutic alliance of an outpatient presenting with borderline personality disorder. Based on the sequential model of emotional processing, emotional states were assessed in a 10-session setting. The case showed an increase in expressions of distress and no change in therapeutic alliance and tended towards general deterioration. Results suggest emotional processing may play a lesser role in general psychiatric management in early phase treatment than previously hypothezised. Copyright © 2015 John Wiley & Sons, Ltd.
Resumo:
This was a systematic review aimed at identifying and characterizing measuring instruments, developed in the context of cardiology, which were adapted into Portuguese language of Brazil. Systematic searches were performed in six databases. Information extracted included cultural adaptation process and measurement properties. To assess the methodological quality of studies, criteria based on international guidelines for cultural adaptation of instruments were used. Among the 114 articles found, 14 were eligible for review. Of these, most evaluated quality of life (35.7%) and health knowledge/learning (28.6%). Most studies followed all stages of the adaptation process recommended in the literature. With respect to measurement properties, internal consistency, verified by Cronbach’s alpha, was the property reported in the majority of the studies, as well as construct and criterion validity. This study is expected to provide to the scientific community a critical evaluation of adapted questionnaires available in the context of cardiology.
Resumo:
Objective: To identify the opinion of patients with mental disorder about tobacco and its prohibition during psychiatric hospitalization. Method: An exploratory study with 96 patients smokers with mental disorders hospitalized in a psychiatric ward of a general hospital. The interviews were conducted individually, using an instrument designed for this study. The content from the interviews was recorded, transcribed and submitted to a thematic content analysis. Results: The patients with mental disorder were identified as perceiving smoking during the psychiatric hospitalization as a help to support the difficulties in socialization and in the lack of activities. The permission for smoking is seen as a signal of respect to their needs. The subjects mentioned to not accept the total smoking prohibition. Conclusion: Tobacco helps to face difficulties and conflicts in the psychiatric hospitalization. There is resistance regarding the possibility to totally withdraw the smoking permission during hospitalization.