850 resultados para developmental toxicity


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A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

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Evidence from opaque languages suggests that visual attention processing abilities in addition to phonological skills may act as cognitive underpinnings of developmental dyslexia. We explored the role of these two cognitive abilities on reading fluency in Brazilian Portuguese, a more transparent orthography than French or English. Sixty-six children with developmental dyslexia and normal Brazilian Portuguese children participated. They were administered three tasks of phonological skills (phoneme identification, phoneme, and syllable blending) and three visual tasks (a letter global report task and two non-verbal tasks of visual closure and visual constancy). Results show that Brazilian Portuguese children with developmental dyslexia are impaired not only in phonological processing but further in visual processing. The phonological and visual processing abilities significantly and independently contribute to reading fluency in the whole population. Last, different cognitively homogeneous subtypes can be identified in the Brazilian Portuguese population of children with developmental dyslexia. Two subsets of children with developmental dyslexia were identified as having a single cognitive disorder, phonological or visual; another group exhibited a double deficit and a few children showed no visual or phonological disorder. Thus the current findings extend previous data from more opaque orthographies as French and English, in showing the importance of investigating visual processing skills in addition to phonological skills in children with developmental dyslexia whatever their language orthography transparency.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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In mares, the embryo migrates to the uterus between days 5 and 6 postovulation beginning its mobility through all uterine segments, which is essential for the maternal recognition of pregnancy. During the mobility phase, the embryonic vesicle shows a linear growth rate until its fixation between days 15 and 17, when the orientation phenomenon occurs. From fixation to day 28 of pregnancy, the embryonic growth is less evident (plateau) by cross-section ultrasound examination. After this period the linear growth rate is reestablished until day 46. This plateau is attributed to the increased uterine tone that compresses the vesicle and to volume expansion, making it difficult to detect the conceptus growth only by the cross-section diameter. Around day 20, the embryo proper is visualized as an echogenic spot in the ventral aspect of the vesicle. Additionally, development of allantoic sac, embryonic heartbeat, yolk sac regression and posterior umbilical cord formation also can be visualized from days 20 to 40. An intimate interaction between uterus and conceptus is essential for the normal pregnancy development. Color-and spectral-Doppler ultrasonography can be useful for the evaluation of this interface. A gradual increase on uterine vascularity during the early pregnancy and transient changes in endometrial vascularity accompanying the vesicle location during the mobility phase have been described. Around day 38 of gestation, the formation of the endometrial cups begins and, consequently, the synthesis of the equine chorionic gonadotropin (eCG) induces the formation and development of supplementary corpora lutea, which are important to secrete progesterone and to maintain pregnancy until around day 120.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Objective: to evaluate the use of hydroxyurea with regard to effectiveness and toxicity in people with sickle cell anemia. Method: this is a retrospective descriptive study, developed with 57 medical records of patients with sickle cell anemia, treated at the University Hospital Center of Campo Grande (Mato Grosso do Sul, Brazil), from 1993 to 2005. Inclusion criteria: electrophoresis of hemoglobin in medical record; regular use of drugs, for an average of 196 weeks; dosage; and hematological analyses before starting treatment. Exclusion criteria: living with other hemoglobinopathies. The variables evaluated were: neutrophils count; platelets; leukocytes; hemoglobin; time using hydroxyurea; drug response to the optimal dosage; and number and type of episodes of hospitalization. The research protocol was approved by the Ethics Committee of Universidade Federal de Mato Grosso do Sul, under the Protocol 645. Results: of the 57 medical records, 3 cases were evaluated. Comparing the hematological values, according to Portaria 872, enacted on 11/12/2002, it was found that: cases A, B, and C present an use of hydroxyurea (500 mg/day) for four years, with an average of 196 weeks. Case A, female, decreased painful episodes and frequency of hospitalization, keeping hematological values with no toxicity. In Case B, female, there was one hospitalization due to pain crises and important hemolysis. It stood out, in case C, male, neutropenia with hematological values < 2,000/mm3 . Conclusion: in the cases analyzed, we observed a drop in the number of hospitalizations with the decrease in painful crises from three to one a year, and there was no toxicity with regard to the dosage and time using hydroxyurea, in all three cases. For more comprehensive results, one suggests further study on this therapy with significant samples of this clientele.

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