Modelos lineares generalizados mistos na avaliação genética da prenhez precoce na raça Nelore

This study aimed to use the generalized linear models with probit and logit link function to evaluate early pregnancy, and to observe the effects on genetic variability and on sire selection when different ages are adopted in the definition of this trait. Early pregnancy was studied at 15 (EP15), and 21 (EP21) months. The analysis was done in R software. Pearson correlations (PC), between genetic predicted values and percentage of bulls in common considering only 10% of bulls with higher genetic values (TOP 10), between classification by logit and probit models and in each model among EP15 and EP21, were calculated. The heritability for EP15 and EP21 were close between models, except for EP15 using probit link function. PC and TOP10 among models were high. The Akaike and Bayesian criteria reported was similar between models. TOP10, considering the same model, among EP15-EP21 were moderated between EP15-EP21.

A interface entre distúrbio obsessivo-compulsivo e esquizofrenia: Desafios da prática clínica

The article discusses the relationship between obsessive-compulsive disorder (OCD) and schizophrenia, based on the report of eight clinical cases. It describes and discusses cases of OCD with poor insight, obsessions that seem paranoid delusions or auditive hallucinations, OCD with transient psychotic reactions, OCD with schizotypal personality disorder and schizophrenia with obsessive-compulsive symptoms.

Estimativa da mudança genética na produção de leite e gordura em bovinos da raça Holandesa

The objective of this study was to estimate the genetic trends of the milk and fat yield in three herds maintained in São Paulo State, Brazil. The estimation of genetic, environmental and phenotypic trends were based on 716 first lactations. The cows were sired by 134 bulls. The statistical models included the fixed effects of herds, kind of gestation, season and year of the calving, age of the cow at calving, besides the random effect of the bulls. The statistical analyses, by the last squares method showed effects for bulls, herds and age of the cows on milk and fat yield. The genetic, environmental and phenotypic trends estimated were -10.20; 6.74 and -3.46 kg for milk yield and -1.90; 2.20 and 0.12 kg for fat yield.

Relevância da genética na etiologia do autismo

Autism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. Today, the presence of genetic factors in its etiology is well known, with familial recurrence of autism and other psychiatric conditions. Autism does not have usual Mendelian inheritence and presents genetic heterogeneity. Strong association has been found between autism and the fragile X syndrome (FMR-1 gene) and with tuberous sclerosis (Bourneville's syndrome). However, many different chromosomal abnormalities were recently described in autistic patients, mainly of chromosome 7 and 15. There are some genes on 15q11-q13 whose products have expression in the central nervous system, mainly synapses, which are subunits of neurotransmitters or ion channels (UBE3A, GABRA5, GABRB3, GABRG3, CHRNA7 e ITO). Some regions of chromosome 7 also have important developmental genes, as EN-2 and HOXA, which act on central nervous system formation. There seems then to exist genes associated with autism etiology on chromosomes 7,15 and X. The detailed study of these chromosomes can produce knowledgment about the biological mechanisms involved in this disturbance.

Avaliação da variabilidade genética em quatro gerações de Eucalyptus urophylla S.T. Blake por meio do marcador molecular RAPD

Molecular markers have gradually replaced morphological markers in population studies. The advantages of molecular markers are the speed and precision of evaluations, mainly for long cycle cultures, where determinate traits can take years to manifest. The principle objectives of this research were to assess variability and genetic distances in four generations of Eucalyptus urophylla and provide data that help with the continued improvement of these materials. The populations can be found at the Experimental Forestry Sciences Station, Anhembi, SP, belonging to the College of Agriculture Luiz de Queiroz of São Paulo University. The initial base population was introduced by seeds collected in indonesia and designated P0 generation. The subsequent segregated generations, derivatives of recombination starting with open pollination, were designated P1, P2, and P3. One hundred and seventy four individual trees representing the four generations were analysed. The RAPD technique allowed the identification of 86 loci that were analysed with the Jaccard Coefficient, generating a genetic similarity matrix, permitting the estimation of genetic distances. The genetic distance of generation PO was 0.3338333, P1 was 0.336824, P2 was 0.40000, and P3 was 0.381093. In percentage terms the genetic distances between individuals grew in relation to base population, being 0.15% for generation P1, 18.93% for P2, and 13.31% for P3. This shows an increase in genetic variability with the advance of the program, despite the selective processes. From this came the belief that the initial base population was resulting from seed collection from isolated trees. These populations, although going through successive selections, had a high cross efficiency through satisfactory pollination, which then permitted genetic variation to increase, the outcome of effective recombination between individuals. Generations P2 and P3 gave a better perspective for the continuance of the improvement program due to the high number of different groups with standard genetic distances of 35%. The selections made between the diverse genetic groups allowed the efficient use of genetic variability evaluation.

Caracterização silvicultural, botânica e avaliação da variabilidade genética por meio do marcador molecular RAPD em um teste de progênies de Eucalyptus urophylla S. T. Blake

Molecular markers have recently been incorporated into genetic improvement programs. They are already considered as powerful tools with several different uses, for instance the monitoring of genetic variability in tree populations. The main objectives of this study were to evaluate genetic variability in Eucalyptus urophylla progenies and together with silvicultural and botanical information, provide assistance to the improvement program. The Eucalypts population is located at the Experimental Forestry Sciences Station, Anhembi, SP, which belongs to the College of Agriculture Luiz de Queiroz. Sixty-nine progenies were analysed representing one individual by family in open pollinated Eucalyptus urophylla trees. The RAPD technique allowed the identification of 72 loci that were analysed using Jaccard's Coefficient generating a genetic similarity matrix to permit estimation of genetic distances. The results obtained showed genetic distance between individuals of 0.40 with 12 groups of genetic variability using a standardised distance of 40%. The progenies showed different bark patterns, allowing the establishment of bark groups. The groups formed based on genetic distances obtained using DNA analysis did not correspond to those based on bark pattern. Genetic selection was simulated in which silvicultural and genetic variability data were linked, thus avoiding excessive variability losses. The simulation of controlled crossings allowed the maximum genetic difference to be obtained linked with height and individual bark roughness.

Avaliação clínica e hematológica em bezerros Nelore infectados experimentalmente com isolados de Babesia bigemina das regiões Sudeste, Nordeste e Norte do Brasil

A comparative study was made regarding the clinical and hematological alterations caused by isolates of Babesia bigemina from southeastern, northeastern and northern Brazil in experimentally infected Nelore calves. Eighteen calves between 7 and 9 months of age, without antibodies against Babesia sp and raised free from ticks, were used. Three animals were previously inoculated with 2.0×109 parasitic erythrocytes (PE) for each stabilate. The other 15 calves were subdivided into three groups, with five animals each, that were subinoculated with 1.0×1010 PE of the respective isolates. The clinical and hematological alterations were evaluated by the determination of parasitaemia, haemogram, plasmatic fibrinogen, reticulocyte count, descriptive analysis of the bone marrow and erythrocytic osmotic fragility, for 30 days, totalizing seven moments of observation. The follow-up of the immunological response by the indirect fluorescent antibody test was carried out daily until the 10th day after inoculation (DAI) and after that, on the 15th, 20th, 25th and 30th DAI. A mild clinical manifestation of the disease was observed. The laboratory findings revealed low levels of parasitaemia; decrease of the erythrogram values; absence of reticulocytes, initial decrease in the total count of leukocytes, neutrophils and lymphocytes with a posterior elevation of the number of these cells; hypercellularity of the erythrocytic series and decrease of the myeloid: erythroid relation which was more accentuated between the 8th and 12th DAI, and an increase of the erythrocytic osmotic fragility in the groups inoculated with the Southeast and Northeast isolates. None of the three isolates of B. bigemina gave rise to the clinical characteristic form of the disease, although they induced an humoral immune response.

Estrutura genética de populações de Trichilia pallida Swartz (Meliaceae) por marcadores RAPD

Trichilia pallida Swartz is an Atlantic Forest shady climax tree of Meliaceae family that presents insecticide properties against chewing insects like as some family trees, making it interesting for forestry uses. Forty plants of Oito Pontas Farm population were collected in Bofete County, Santa Genebra Ecological Station in Campinas County, and Caetetus Ecological Station in Gélia County, all in the Sao Paulo State, Brazil. Leaf DNA analysis was used by RAPD method, that showed 10 highly polymorphic primers, with 72 dominant markers, used to estimate genetic diversity within and among populations. The polymorphism within populations varied from 90.3 to 97.2%, and the effective allele number varied from 1.46 ± 0.33 to 1.57 ± 0.33, while the average of genetic differentiation of populations varied from 0.27 ± 0.18 to 0, 33 ± 0.15. The gene diversity in the total population (H T) was 0.334 ± 0.02, while the average gene diversity within populations (H s) was 0.292 ± 0.017, and the coefficient of gene differentiation (G ST) was 0.125, Bofete and Campinas populations had the smallest Nei's genetic distance (0.049) and the distances of both with Gália were 0.117 and 0.107, respectively.

Frutose em humanos: Efeitos metabólicos, utilização clínica e erros inatos associados

This article reviews the metabolism of fructose and sorbitol, their main clinical indications and the consequences of inadequate use. Fructose, an important carbohydrate in the diet, is present mostly in fruits and vegetables; it can also be synthesized from glucose in the organism, through the sorbitol. Fructose is known for its metabolism's inherent errors, whose clinical manifestations are potentially serious, as well as for its use as a glucose substitute in the diabetic patients' diet, due to its metabolism not being dependent from insulin. In the last years, especially in developed countries, the consumption of fructose has increased considerably, due to its use as a sweetener in industrialized foods. However, adverse side-effects may occur with the excessive ingestion of fructose, such as the increase in blood's triglycerides and cholesterol. Therefore, to know which are the patients' normal blood levels is quite important for establishing the safe amount of fructose to be prescribed, as well as for allowing the screening of metabolism diseases associated with fructose.

Diltiazem não induziu crescimento gengival em ratos. Análise clínica, histológica e histométrica

The administration of calcium channel blockers has been associated with gingival overgrowth. However, there are few studies in humans or animals that evaluated the effect of diltiazem on gingival tissues. The present study assessed the influence of diltiazem, at different dosages and treatment duration, on gingival tissues of rats, using clinical, histological and histometric analyses. Eighty young male rats were separated into eight groups according to the dosage and duration of treatment. Rats were treated for 20 or 40 days with a daily subcutaneous injection of 5, 20 or 50 mg/kg of body weight of diltiazem. The results confirmed that diltiazem did not induce gingival overgrowth in rats. For all animals, the evaluation did not show gingival alterations regardless of the dosages and periods of treatment. The histometric analysis showed no significant change in the area of epithelium and connective tissues, although after 40 days of treatment a decrease in the area of connective tissue was observed, without statistically significant difference from control groups. Within the limits of this study, we suggest that diltiazem did not induce gingival overgrowth.

Variabilidade genética intrapopulacional em Myracrodruon urundeuva Fr. All. por marcador AFLP

Levels of genetic variability for in situ and ex situ genetic conservation were estimated in a population of Myracrodruon urundeuva using the PCR (polymerase chain reaction) technique with the AFLP (Amplified fragment-length polymorphism) genetic marker. Seeds for progeny tests were collected from 30 open-pollination trees (matrices) at Paulo de Faria Ecological Station - SP. From this genetic material, three progeny tests were installed on the Teaching and Research Farm of Ilha Solteira Faculty of Engineering - University of São Paulo State (UNESP), which is located in Selvlria - MS, Brazil. The analysis by genetic marker was conducted with three combinations of different starters EcoRl-Msel, resulting in a total number of 137 polymorphic bands, thus forming a table of binary data. These data were used for the analysis of genetic divergence and distance between progenies. High levels of genetic divergence were observed among families. Based on the Analysis of Molecular Variance (AMOVA), it was shown that 16.2% of genetic diversity is found among progenies and 83.8% within progenies, which suggests deviances of random matings. The grouping of progenies, based on genetic distances, suggests that progenies deriving from trees which are close to each other tend to be more similar. This, in turn, indicates that the population originating the seeds may be genetically structured.

O espectro médio de longo termo na pesquisa e na clínica fonoaudiológica.

BACKGROUND: One of the great difficulties in evaluating a voice is the judgment of quality through the perceptual auditive analysis--although frequently used--, as it is influenced by socioeconomic and cultural aspects as well as individual preferences. Many are the adjectives and methods used in this assessment, especially because of the subjectivity involved in the process, leading to incompatibilities between listeners and difficulties in reaching a consensus on the use of this or that terminology. In such a context, the voice laboratory and more specifically the acoustic computerized analysis, has guided and complemented speech-language treatments. Among the several possibilities of spectrographic analysis, the (Long-Term Average Spectrum--LTAS) quantifies the quality of voices, pointing differences between gender, age, professional--spoken and sang--and dysphonic voices. The LTAS has been used a lot in researches that investigate voice. As it evidences the contribution of the glottic source and of resonance to the quality of voice, it provides objective parameters for the evaluation of this aspect which usually depends on our auditive perception. AIM: to demonstrate how LTAS can be applied in voice research and in the speech-language therapy practice, describing both the technical aspects required for the production and interpretation of results, and its limitations. CONCLUSION: The area of voice research has developed a lot in these last two decades especially because of the advent of the voice and speech laboratory. For this reason, the knowledge about the applicability of more tools for voice analysis, as the LTAS, as well as the existing need for more studies in this area, will most certainly contribute for the creation of new research areas not only in the field of professional voice but also in the field of therapy.

Uso antenatal de corticosteóide e evolução clínica de recém-nascidos pré-termo

Objectives: To describe the use of antenatal corticosteroid and clinical evolution of preterm babies. Methods: An observational prospective cohort study was carried out. All 463 pregnant women and their 514 newborn babies with gestational age ranging from 23 to 34 weeks, born at the Brazilian Neonatal Research Network units, were evaluated from August 1 to December 31, 2001. The data were obtained through maternal interview, analysis of medical records, and follow-up of the newborn infants. Data analysis was performed with the use of chi-square, t Student, Mann-Whitney, and ANOVA tests and multiple logistic regression, with level of significance set at 5%. Results: Treatment was directly associated with the number of prenatal visits, with maternal hypertension and with the antenatal use of tocolytic agents. Babies from treated pregnant women presented better Apgar scores at the 1st and 5th minute, reduced need for intervention in the delivery room and lower SNAPPE II. They were born with higher birth weight, longer gestational age and needed less surfactant use, ventilation, and oxygenation time. After multiple logistic regression, the use of antenatal corticosteroid independently improved birth conditions, decreased ventilation time, being related to increased occurrence of neonatal sepsis. Conclusions: The use of corticosteroid was associated with better prenatal care and birth conditions, better preterm evolution but higher risk of infection. © 2007 Sociedad Chilena de Pediatría.

Ocorrência de mastite clínica e subclínica causada por Trichosporon beigelii em um rebanho leiteiro

Trichosporon beigelii was isolated from four and three Holstein heifers with clinical and subclinical mastitis respectively, during the extension activities of Nucleus of Mastitis Research - NUPEMAS - FMVZ - UNESP - BOTUCATU - BRAZIL. This fungus is considered extremely important because it is responsible for superficial skin infections, known as white piedra. According with literature, there is no record of isolation of this agent from mastitis in Brazil. This fact confirms the importance of microbiological studies to lead the treatment correctly to prevent the increase of bacterial resistance and secondary fungal infections that uses the inefficient antimicrobial as substratum for its development.