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.

Análise do investimento em climatização para bovinos de leite em sistema de alojamento free-stall

The difficulty in adapting European dairy cows breeds in Brazil affect considerably the milk production sector. Brazilian climatic conditions are not totally favorable and the development of new tecnologies is needed for the animals express their genetic potential, as well as their best feed conversion. An economical analysis of the applied investment in the free-stall climatization equipment in dairy housing, for estimating studies related to profit, possibility of return investment as well as time for this return is necessary. The objective of this research was to evaluate the influence of climatization investment in the milk production process and analyze the economical aspect of this investment. There were used 470 high productive dairy cows with genetic and morphologic homogeneous characteristics, and analyzed in two similar periods. Investment calculations were done using Excell®. The results were satisfactory and the invested capital was proved to return to the producer in a short term, 57 days.

Avaliação de tipos de ventilação em maternidade de suínos

Livestock facilities, where animals carry their productive cycle, must have as main characteristic, the control of influence over climatic factors on animals. The environment variations can be controlled through the use of different ventilation systems. The objective of this research was to evaluate the influence of different environment conditioning systems on swine nursery. Three treatments have been tested: natural ventilation, cooled ventilation and forced ventilation. The climatic parameters evaluated were: air temperature, relative humidity and black globe temperature. The physiological parameters analyzed were: respiratory frequency and back fat thickness. Number of born alive piglets, average weight at weaning and number of weaned piglets were also evaluated parameters. The use of cooled ventilation systems were able to decreased animal's air temperature and respiratory frequency, and the black globe temperature and humidity index (WBGT) and the radiating thermal load (RTL).

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.

Abundância de ramos reprodutivos e produção de sementes em populações de Ipomoea pes-caprae (L.) R. Br. na Ilha de Santa Catarina, Brasil

The variation in the proportion of reproductive branches, fruit, and seed production of Ipomoea pes-caprae (L.) R. Br. (Convolvulaceae) were evaluated at ten beaches on Santa Catarina Island, state of Santa Catarina, Brazil. Three patches per beach of Ipomoea pes-caprae were monitored, involving two reproductive cycles. Ipomoea pes-caprae presented initially an average length of patches of 14 m, with 9.6 branches/m² and 39% of reproductive branches. The proportion of reproductive branches varied between the cycles, but there was not noticed an alternation of reproductive effort between the subsequent cycles. There was a reduction in the percentage of reproductive branches at six localities. In four beaches where Ipomoea pes-caprae populations declined, occurred reduction in the reproductive vigor, and in the seed production, being these declines associated to strong sea erosion. In another hand, in one beach with population increase, there were little reproductive branches due to the occurrence of young stolons. Four patches never maturated fruits, being three of these located at small beaches. The fruit and seed productions in the patches showed values up to 40 fruits/m² and up to 140 seeds/m², respectively. Populations with great seed production were localized in areas adjacent to great coastal plains, which may represent potential seed sources for areas with small seed production in the island.

Variação sazonal da fotossíntese, condutância estomática e potencial da água na folha de laranjeira 'Valência'

Seasonal variation in environmental conditions may influence gas exchange rates as well as water relations in perennial species. This work was carried out to evaluate photosynthetic rates (A), transpiration (E), stomatal conductance (g) and leaf water potential (psi f ) in 'Valencia' orange trees grafted on four different rootstocks. Measurements were made twice a day: from 9h00 to 11h00 a.m. and from 1h00 to 3h00 p.m., during January, March and July. A and g were significantly lower and psif was significantly more negative, in the afternoon. The decrease in A may be related to the reduction in g, due to the increase in the vapor pressure deficit between the air and the leaf (VPDair-leaf ) in the afternoon, when temperatures are higher. In spite of the partial stomatal closure in the afternoon, the values for E were approximately the same as those measured in the morning, due to the increase in the VPDair-leaf . A decrease in A and g could also be noted from January to July, that is, from the hot and humid summer months, to the colder and drier winter ones. It was suggested that the decrease in A and g observed from January through March, may be related to the decrease in plant growth rates, which could have influenced the source-sink relationships, since the climatic conditions for both months were similar. The decrease in A and g showed in July, seems to be related to the decrease in both the night temperature and the growth rate of plants.

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.

Crescimento e composição corporal de uma coorte de crianças e adolescentes com diabetes tipo 1

OBJECTIVE: To evaluate the growth and body composition of children and adolescents with type 1 diabetes mellitus (T1DM). SUBJECTS AND METHODS: A cohort of 44 patients with T1DM were followed up for approximately four years and compared with a control group. Weight, height, body mass index (BMI), body fat percentage (BF%), fat mass index, waist circumference (WC) and waist-height ratio were determined. RESULTS: In females, in the first evaluation, BF% was lower in patients than in controls, while in the second evaluation, mean WC was higher in patients than in controls. In males, height of the patients was lower in the first evaluation, while body mass index (BMI) was higher in the second one. We did not find any differences among the changes in height, weight and BMI z-scores and BF% or in the distribution of those z-scores between the two evaluations, in both groups. Multiple regression analysis found differences in BMI and waist-height ratio in both sexes and also in WC in females. CONCLUSION: The patients had adequate growth but showed discrepancy in their body composition during the study.

Efeito neuromuscular das técnicas fisioterapeuticas bandagem funcional e corrente interferencial na síndrome tensional cervical

Universidade Estadual de Campinas . Faculdade de Educação Física

Metodologia para analise cinematica de volumes respiratorios parciais de nadadores

Universidade Estadual de Campinas . Faculdade de Educação Física

Analise do movimento de arremessar em diferentes tarefas realizadas por crianças portadoras de Sindrome de Down

Universidade Estadual de Campinas. Faculdade de Educação Física

O papel da propriocepção no desenvolvimento da força muscular e da flexibilidade

Universidade Estadual de Campinas . Faculdade de Educação Física

As atividades ludicas e a criança com paralisia cerebral : o jogo, o brinquedo e a brincadeira no cotidiano da criança e da familia

Universidade Estadual de Campinas. Faculdade de Educação Física

Analise de volumes parciais do tronco durante a respiração por videogrametria

Universidade Estadual de Campinas . Faculdade de Educação Física

Análise do perfil de humor e da enzima alfa-amilase salivar em indivíduos fisicamente ativos = : Analysis of profile of mood states and salivary alpha amylase enzyme in physically active individuals

Universidade Estadual de Campinas . Faculdade de Educação Física