34 resultados para Seleção fenotípica

em Repositório da Produção Científica e Intelectual da Unicamp


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Universidade Estadual de Campinas . Faculdade de Educação Física

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Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

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Studies show that higher level diplomas make access to well-paid jobs easier and are an important source of prestige and social honor in Brazil. However, a broad literature today indicates a reduction of the importance of the diploma in hiring processes and argues that having a diploma becomes less and less sufficient for getting a job. This article examines the processes of selection of recently graduated engineers by eight large companies in the region of Campinas. Based on interviews with the main actors of the selection processes and on observation of the initial steps of a selection carried out by a consultancy company hired by one of the companies, the study shows that the weight of a diploma from a prestigious university is still the most important variable for the hiring decision, as it defines not only whether it will be possible to get the job or not, but also the access to vacancies that lead to better paid and more prestigious managerial positions. Finally, it discusses theoretical implications as well as what these results suggest in terms of public policies.

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This research studied the effect of low density polyethylene packaging and storage temperature on the preservation of fresh-cut (minimally processed) cabbage. The cabbages, previously cooled to a temperature of 10 ºC, were selected, washed, cut in four parts (with the central stalk removed), sanitized, cut in strips, rinsed, put in the centrifuge, weighed and stored in plastic packaging of low density polyethylene (70 µm), and then stored in cold chambers at temperatures of 1 and 10 ºC for 20 days. The following aspects were evaluated: carbon dioxide, oxygen and ethylene in the internal atmosphere of the package as well as, pH, titratable acidity, total soluble solids, vitamin C, loss of fresh mass and the total soluble solids/acidity in the fresh-cut cabbage ratio. The experimental design was entirely casual, with three repetitions. The analysis parameters, except for the vitamin C, loss of fresh mass and ethylene, presented significant variation between the temperatures and days of storage. The cabbage stored at a temperature of 1 ºC presented a shelf life of around 15 days, significantly higher than that stored at 10 ºC. At this temperature, on the 8th day of storage, the product was completely decayed, unfit for commercialization or consumption.

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X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.

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FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas. Faculdade de Educação Física

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Universidade Estadual de Campinas. Faculdade de Educação Física

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas . Faculdade de Educação Física

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Universidade Estadual de Campinas . Faculdade de Educação Física