Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism

A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.

Determinação do sexo do feto através de uma nova técnica não invasiva baseada em PCR / Determination of fetal sex by a new PCR method non invasive

A determinação do sexo do feto é geralmente realizada pelo procedimento de ultra-som que ocorre no segundo trimestre da gestação, sendo que, quando realizado antes da 13ª semana, esse método se mostra muito incerto.Técnicas moleculares utilizando o PCR já foram descrita, e possuem maior sensibilidade na determinação do sexo. Dentre estas técnicas existentes, as invasivas consistem em amniocentese ou coleta de amostra de vilo coriônico, seguida de PCR para determinar osexo e que representam em aumento de risco na gravidez e as técnicas não invasivas que conseguem detectar o DNA fetal no sangue periférico materno. Foi desenvolvida em nosso laboratório uma técnica capaz de detectar o sexo fetal nas primeiras semanas de gestaçãocom alto índice de acerto. A técnica consistiu em desenhar iniciadores que anelassem em regiões repetitivas espalhadas no cromossomoY e “PCR Nested” para aumentar a acurácia do exame. Os resultados demonstraram que a técnica possui sensibilidade e especificidade de 100%. Além disso, a PCR foi capaz de detectar em uma diluição seriada de uma amostra de DNA genômico masculina, previamente quantificada, a presença do cromossomo Y em amostrascontendo apenas 100 femtogramas de DNA.

The determination of fetal sex is currently carried out by ultrasound that is usually performed in the second trimester. However, it is inaccurate before 13th week of gestation. Molecular techniques such as PCR already had been described and were successful of fetal gender. Among these techniques, there are invasive methods: chorionic villus sampling and amniocentesis that are avoided because it is associated with a risk of fetal loss, and the non-invasive procedures that use of fetal DNA circulating in maternal blood. We report a new Nested PCR method with specific primers for repetitive sequences of the Y-chromossome. Our results indicated that sensitivity and specificity of the method were 100% and we can accurately detect Y-chromossome sequences in samples with only 100 femtograms of DNA template.

Aspectos da bovinocultura leiteira no Município de Ilhéus-BA / Characterization of dairy cattle production in Ilhéus -BA

The results show that the milk production activity in the county of Ilhéus, Bahia state, Brazil, lacks of technologies that could improve milk productivity. General information about the farms were obtained through a survey. Thirty-seven (43.5 percent) farms were smaller or equal to 50ha and 65 (76.5 percent) farms produced 50l of milk per day, characterizing these farmers as small producers. In 46 (54.1 percent) farms no information concerning costs, level of production, reproduction efficiency or sanity of the herds were found. In 29 (34.2 percent) farms the information was registered in portable computer database, six (7.1 percent) farms used structured index cards and four (4.7 percent) farms had desktop computers. Forty-one (48.2 percent) farms had roofed and paved milk facilities, three (3.5 percent) farms had not roofed but paved, in 31 (36.5 percent) farms the corrals were not roofed and unpaved, and 10 (11.8 percent) farms had no constructions.