Navegando por Palavras-chave "mental retardation"
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- ItemSomente MetadadadosCFC index for the diagnosis of cardiofaciocutaneous syndrome(Wiley-Blackwell, 2002-09-15) Kavamura, Maria Ines [UNIFESP]; Peres, Clovis de Araujo [UNIFESP]; Alchorne, Maurício Mota de Avelar [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. (C) 2002 Wiley-Liss, Inc.
- ItemAcesso aberto (Open Access)A expressão neurológica e o diagnóstico genético nas síndromes de Angelman, de Rett e do X-Frágil(Sociedade Brasileira de Pediatria, 2002-08-01) Veiga, Marielza Fernández [UNIFESP]; Toralles, Maria Betânia Pereira; Universidade Federal de São Paulo (UNIFESP); SBNC; UFBA Hospital Universitário Prof. Edgard Santos; UFBA Faculdade de Medicina Depto. de PediatriaObjective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and autism. Sources: the authors carried out a bibliographic review on each syndrome involved, correlating and characterizing the neurological manifestations, as well as describing genetic mechanisms and identifying biological markers. Summary of the findings: the authors were able to confirm that Rett Sydrome is a genetic disease resulting from the mutation of the MECP2 gene and clinical variations can be explained by different mutations in this gene. Angelman syndrome has four genetic mechanisms responsible for phenotypic variations and different risks of recurrence. In Fragile-X syndrome, the degree of cognitive impairment is related to the number of trinucleotide repeats. Conclusions: different genetic mechanisms of the three syndromes are responsible for clinical variability. By identifying the biological markers, the diagnosis will be performed earlier and it will be possible to identify new subtle expressions of the disease.
- ItemAcesso aberto (Open Access)Fusos extremos na era da ressonância magnética: características clínicas, eletrográficas e de neuroimagem(Liga Brasileira de Epilepsia (LBE), 2005-12-01) Maia, Maria Goretti Lima [UNIFESP]; Caboclo, Luís Otávio Sales Ferreira [UNIFESP]; Carrete Junior, Henrique [UNIFESP]; Garzon, Eliana [UNIFESP]; Sakamoto, Américo Ceiki [UNIFESP]; Yacubian, Elza Márcia Targas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)OBJECTIVES: Extreme spindles were described by Gibbs and Gibbs in 1962. They are typically observed in children younger than five years, occurring in 0.05% of normal children and in up to 5 to 18% of children with mental retardation or cerebral palsy. In this study we describe the clinical and neurophysiological characteristics of five children with extreme spindles, correlating these findings to neuroimaging data, obtained in magnetic resonance imaging of the brain. PATIENTS AND METHODS: Eight patients from the children epilepsy outpatient clinic at UNIFESP were initially included, who had extreme spindles in at least one electroencephalogram (EEG) examination. Five out of these eight were selected, since they had MRI of the brain available for analysis. RESULTS: The age of the children varied from two to 15 years. The five children had mental retardation, and three presented associated motor deficits. All had epilepsy; in three children seizures were controlled with antiepileptic drugs, but in two they were considered refractory to medical treatment. In one patient only the MRI of the brain was considered normal. In the other cases, the findings were: bilateral pachygiria, diffuse brain atrophy, right occipital lesion, and bilateral frontal atrophy. The frequency of extreme spindles varied form 8.9 to 16 Hz, and amplitude from 67 to 256 µV. In three patients, frontal fast activity was observed along with extreme spindles. CONCLUSIONS: Extreme spindles are seldom observed in normal children, but may be quite frequent among those with mental retardation or cerebral palsy. They are probably not related to epilepsy, though in our series all children had epilepsy as well as mental retardation. Diagnostic investigation of these children with MRI of the brain showed that extreme spindles may occur either in children with defined structural abnormalities or in those with normal neuroimaging examination, suggesting that this specific electroencephalographic pattern is associated to mental retardation but not to specific etiologies.
- ItemSomente MetadadadosPure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes(Wiley-Blackwell, 2008-10-15) Kulikowski, Leslie Domenici [UNIFESP]; Bellucco, Fernanda T. S. [UNIFESP]; Belangero, Sintia Iole [UNIFESP]; Christofolini, Denise M. [UNIFESP]; Smith, Marilia de A. C. [UNIFESP]; Mello, Claudia B. de [UNIFESP]; Brunoni, Decio [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Univ MackenzieSeveral authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. (C) 2008 Wiley-Liss, Inc.
- ItemAcesso aberto (Open Access)Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA(Funpec-editora, 2006-01-01) Christofolini, Denise Maria [UNIFESP]; Lipay, Monica Vannucci Nunes [UNIFESP]; Ramos, Marco Antonio Paula de [UNIFESP]; Brunoni, Decio [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene ( FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.