Mental Deficient
Mostrando 13-24 de 47 artigos, teses e dissertações.
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13. O LETRAMENTO DO ALUNO COM DEFICIÊNCIA MENTAL NO CONTEXTO DA ESCOLA INCLUSIVA RELATO DE UMA EXPERIÊNCIA
Esta dissertação é o resultado de um estudo que tem por tema o letramento do aluno com deficiência mental no contexto da escola inclusiva. Além do fato de a inclusão educacional ser uma proposta recente, a importância do estudo também se deve ao número restrito de trabalhos científicos nesta área e ao alto índice de pessoas com deficiência menta
Publicado em: 2004
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14. Estresse ocupacional em enfermeiros de um hospital universitario da cidade de Campinas, SP
Objective: This study is intended to identify the social-demographic characteristics and the sources of occupational stress for nurses working in the Emergency Room (ER), 1nfirmaries of Clinical/Trauma Emergency (CE/TE) and Cardiopneumo Infinnaries (CP1) at the Clinics Hospital of the State University of Campinas (UNICAMP), Campinas, SP. Method: This is a de
Publicado em: 2001
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15. Lazer e deficiencia mental : o papel da familia e da escola em uma proposta de educação pelo e para o lazer
The goal of this study is to evaluate the role that leisure could play in mental deficient people development, proposing that education to leisure and through leisure should be considerated in the special educational area. We think that the participation of the family and the school in this process is fundamental and we intend to investigate their roles on t
Publicado em: 1995
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16. A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.
A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal
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17. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.
Monoamine oxidase (MAO) exists as two isoenzymes and plays a central role in the metabolism of monoamine neurotransmitters. In this study we compared the neurochemical phenotypes of previously described subjects with genetically determined selective lack of MAO-A or a lack of both MAO-A and MAO-B with those of two subjects with a previously described X chrom
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18. Role of Rab GDP dissociation inhibitor α in regulating plasticity of hippocampal neurotransmission
Rab GDP dissociation inhibitor α (Rab GDIα) is a regulator of the Rab small G proteins implicated in neurotransmission, and mutations of Rab GDIα cause human X-linked mental retardation associated with epileptic seizures. In Rab GDIα-deficient mice, synaptic potentials in the CA1 region of the hippocampus displayed larger enhancement during repetiti
The National Academy of Sciences.
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19. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.
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20. Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation.
NADH-diaphorase and cytochrome b5 reductase activities of platelets and leucocytes, as well as erythrocytes, were found to be deficient in a patient with hereditary methaemoglobinaemia associated with moderate mental retardation and non-progressive neurological disturbance, in which hyperactive reflexes and involuntary movements were notable. In another meth
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21. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction. The Lowe syndrome gene, OCRL1, encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex. The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylin
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22. Misguided Axonal Projections, Neural Cell Adhesion Molecule 180 mRNA Upregulation, and Altered Behavior in Mice Deficient for the Close Homolog of L1
Cell recognition molecules are involved in nervous system development and participate in synaptic plasticity in the adult brain. The close homolog of L1 (CHL1), a recently identified member of the L1 family of cell adhesion molecules, is expressed by neurons and glia in the central nervous system and by Schwann cells in the peripheral nervous system in a pat
American Society for Microbiology.
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23. Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase
We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient’s plasma and cells, we found increased levels of lathosterol. The biosynthesis of ch
The American Society of Human Genetics.
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24. Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.
An alpha-L-iduronidase deficiency syndrome has been described in adult male twins, which was phenotypically distinct from that of the Hurler and Scheie syndromes or the chondroitinsulphaturias. Multiple dysostosis and stiff joints were present without cloudy corneae, cardiac involvement and mental or physical retardation. This clinical phenotype appeared to