Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome

The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.CNPqFAEPACoordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)PRONEXFAPES

Produtividade de raízes de mandioca consorciada com milho e caupi em sistema orgânico.

Foram avaliados sistemas orgânicos de produção de mandioca “de mesa”, em Seropédica (RJ). O experimento constou dos seguintes tratamentos: monocultivo de mandioca (cv. IAC 576-70) e consórcios com milho experimental (cv. Eldorado), caupi (cv. Mauá) e milho+caupi. O manejo orgânico foi padronizado e toda a área experimental irrigada durante o período de permanência do milho no sistema. Do milho, foram colhidas espigas verdes (imaturas) e a parte aérea acamada na superfície do solo. O caupi foi incluído como adubo verde e cortado na floração, sendo mantidos os resíduos na superfície do solo. Ambos os consortes ocuparam as entrelinhas da mandioca, de modo alternado, semeados após a primeira capina da cultura principal. A cultivar IAC 576-70 mostrou-se adaptada ao manejo orgânico, com produtividade de raízes de padrão comercial próxima a 31 Mg ha-¹. Não houve diferenças significativas entre o monocultivo e os três tipos de consórcios testados. A inclusão do milho representou potencial de renda adicional ao produtor, colhendo-se,em média, 18.125 espigas ha-¹, o que correspondeu a 5,1 Mg ha-¹. Os resíduos provenientes da roçada do caupi proporcionaram um aporte de biomassa fresca de 12 Mg ha-¹, com uma expressiva contribuição em nitrogênio (cerca de 44 kg de N ha-1). A fabácea leguminosa cobriu por completo as entrelinhas da mandioca,demonstrando seu potencial de controle à erosão e a ervas espontâneas. O consórcio triplo mostrou-se vantajoso tendo em vista que a receita obtida com a venda do milho verde justificaria os custos da irrigação, além dos benefícios da inclusão do caupi e da não interferência dos consortes na produtividade da mandioca

Gravitational Wave Emission from Galactic Radio Pulsars

We consider in this work continuous gravitational wave (GW) emission from non-axisymmetric radio pulsars. We treat in some detail the observational issues related to the known radio pulsar sample with the aim of unveiling the actual number of sources contributing to GW, which are likely to be the main contributors of GWs. It is shown that the operation of spheroidal GW detectors and full-size interferometers could detect this component of the radiation or impose useful limits on the effective oblateness of young radio pulsars.Comment: 7 pages, RevTex , no figures , to appear in Phys. Rev.