Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Epilepsias parciais familiares

OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed. RESULTS: Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families. CONCLUSION: Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment.

Machado-Joseph disease versus hereditary spastic paraplegia: case report

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.

Homogeneidade e heterogeneidade nos sistemas educacionais: Argentina, Brasil, Chile e México

This study focus on the reconfiguration of educational management in Argentina, Brazil, Chile and Mexico, which was promoted by the new logic of social regulation and the new role attributed to the State, considering each country's own historicity. So, the cultural factors that interfere on the dynamics of the 90' school reform are analyzed. Aspects that show the homogeneity or heterogeneity of these reforms in the region, as well as local specificities that block out the concretization of the reform are underlined. It is shown that the historicity that characterizes the educational reform has taken, in each country, a form that can be called, in Mexico, conservative rupture; in Chile, conservative continuity; in Brazil, conservative renovation; and, in Argentina, interrupted rupture. Some conclusions about the impact of educational reform in the selected countries are recuperated through the analysis of 186 academic texts on the subject.

Estimativa de bem-estar de frango de corte em função da concentração de amônia e grau de luminosidade no galpão de produção

Brazil is an important poultry meat export country, and large parts of its destination are countries with specific rearing restrictions related to broiler s welfare. One of the aerial pollutants mostly found in high concentrations in closed poultry housing environment is ammonia. There are evidences that broilers welfare may be compromised by the continuous exposition to this pollutant in rearing housing. This research aimed to estimate broilers welfare reared under specific thermal environmental attributes and bird s density, as function of the ammonia concentration and light intensity inside the housing environment using the Fuzzy Theory. Results showed that the best welfare value (0.89 in the scale: 0-1) approximately 90% of the ideal was found in the conditions that associated the ideal thermal environment, with bird s density between 13-15 birds m-2, with values of the ammonia concentration in the environment below 5 ppm, and light intensity near 1 lx. Using the predictive method it was possible to estimate broilers welfare with relation to the ammonia concentration and light intensity in the housing.

Ambiências térmica, aérea e acústica para reprodutores suínos

The swine breeder rearing environment directly affects the animal's performance. This research had the objective of developing a thermal, aerial and acoustic environmental evaluation pattern for boar housing. The experiment was carried on a commercial swine farm in Salto County -SP, Brazil. Thermal, aerial and acoustic environment data of rearing conditions were registered. Data were statistically analyzed using as threshold the ideal housing environment that leads to animal welfare. Results showed that ambient temperature was around 70% beyond normal range, while air relative humidity, air speed and gases concentration were within threshold values. Noise level data besides being within normal range did not present large variation. In relation to the fuzzy logic analysis it was possible to build up a scenario which indicated that the best welfare indexes to male swine breeders happens when thermal comfort index are close to 80%, and noise level is lower than 40 dB. In the other hand the worst welfare index occur in the sector where the thermal comfort values are below 40% at the same time that the noise level is higher than 80 dB leading to inadequate conditions to the animal, and may directly interfere in the reproduction system performance.

Tradução para a língua portuguesa e adaptação cultural do questionário Rowe modificado para atletas arremessadores

OBJECTIVE: Study was to translate and culturally adapt the modified Rowe score for overhead athletes. METHODS: The translation and cultural adaptation process initially involved the stages of transla tion, synthesis, back-translation, and revision by the Translation Group. It was than created the pre-final version of the question naire, being the areas function and pain applied to 20 athletes that perform overhead movements and that suffered SLAP lesions in the dominant shoulder and the areas active compression test and anterior apprehension test and motion were applied to 15 health professionals. RESULTS: During the translation process there were made little modifications in the questionnaire in order to adapt it to Brazilian culture, without changing the semantics and the idiomatic concept originally described. CONCLUSIONS: The questionnaire was easily understood by the subjects of the study, being possible to obtain the Brazilian version of the modified Rowe score for over head athletes that underwent surgical treatment of the SLAP lesion.

A metalinguagem como lugar da interpretação: terminologia e bases de dados informatizadas

The main objective of this work is to discuss the notion of metalanguage concerning the use of thesaurus (symbols systems, functions indicators, descriptors) utilized by indexers for article representation in computerized bibliographical databases. Our corpus comprises article abstracts and bibliographical database descriptors LILACS (Literatura Latino-Americana em Ciências da Saúde) and SOCIOFILE Sociological Abstracts. We aim at clarifying the effects of subjectivity in the functioning of indexing taking account the grounds for interpretation that allow different meanings.

Uma observação sobre o lugar da teoria da ligação e do critério temático dentro do programa minimalista

In this paper I present some evidencie that forces us to conclude that within the Minimalist Program (Chomsky 1993; 1995), Binding Theory (BT) should be computed after LF (Logical Form). I show that derivations leading to structures containing violations of BT-Principles must converge at LF, since less economical alternative derivations respecting those principles are also ungrammatical. Being irrelevant to the notion of convergence, BT must apply after LF. A similar reasoning reveals that the Theta-Criterion should have the status of a bare output condition appling at LF, since less economical derivations are allowed by the computational system to prevent violations of it.

Análise bayesiana do modelo de herança monogênica no melhoramento vegetal: um exemplo com abobrinha

A common breeding strategy is to carry out basic studies to investigate the hypothesis of a single gene controlling the trait (major gene) with or without polygenes of minor effect. In this study we used Bayesian inference to fit genetic additive-dominance models of inheritance to plant breeding experiments with multiple generations. Normal densities with different means, according to the major gene genotype, were considered in a linear model in which the design matrix of the genetic effects had unknown coefficients (which were estimated in individual basis). An actual data set from an inheritance study of partenocarpy in zucchini (Cucurbita pepo L.) was used for illustration. Model fitting included posterior probabilities for all individual genotypes. Analysis agrees with results in the literature but this approach was far more efficient than previous alternatives assuming that design matrix was known for the generations. Partenocarpy in zucchini is controlled by a major gene with important additive effect and partial dominance.

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

Programação esportiva na TV Brasil : a influência da ideologia e indústria cultural

Universidade Estadual de Campinas . Faculdade de Educação Física

Cultura de movimento e identidade : a Educação Fisica na contemporaneidade

Universidade Estadual de Campinas . Faculdade de Educação Física

Perspectivas historicas do movimento Esporte para Todos no Brasil

Universidade Estadual de Campinas . Faculdade de Educação Física