Empiric therapy for idiopathic oligoasthenoteratozoospermia. / Tratamiento empírico de la oligoastenoteratozoospermia idiopática.

Male infertility accounts for 50% of the causes of infertile couples, being more than 30% of unknown etiology. In these cases, empiric treatment can be an option prior to the application of assisted reproduction techniques. Empiric treatment can be categorized as hormonal, such as gonadotropins, antiestrogens and aromatase inhibitors, and antioxidant, with vitamins, trace elements and carnitine, among others. Although scientifically acceptable evidence is limited due to the absence of large randomized and controlled clinical trials, recent systematic reviews and meta-analyses show that treatment with gonadotropins, antiestrogens and antioxidants increases pregnancy and live birth rates and improves seminal parameters. Empiric medical treatment for idiopathic infertility can be considered in specific cases in order to improve semen quality and spontaneous fertility.

Comparative genomics to bridge Vicia faba with model and closely-related legume species: stability of QTLs for flowering and yield-related traits.

This study presents the development of an enhanced map in faba bean. The map contains 258 loci, mostly gene-based markers, organized in 16 linkage groups that expand 1,875 cM, with an average inter-marker distance of 7.26 cM. The combination of EST-derived markers with a number of markers physically located or previously ascribed to chromosomes by trisomic segregation, allowed the allocation of eight linkage groups (229 markers), to specific chromosomes. Moreover, this approach provided anchor points to establish a global homology among the faba bean chromosomes and those of closely-related legumes species. The map was used to identify and validate, for the first time, QTLs controlling five flowering and reproductive traits: days to flowering, flowering length, pod length, number of seeds per pod and number of ovules per pod. Twelve QTLs stable in the 2 years of evaluation were identified in chromosomes II, V and VI. Comparative mapping suggested the conservation of one of the faba bean genomic regions controlling the character days to flowering in other five legume species (Medicago, Lotus, pea, lupine, chickpea). Additional syntenic co-localizations of QTLs controlling pod length and number of seeds per pod between faba bean and Lotus japonicus are likely. The new genetic map opens the way for further translational studies between faba bean and related legume species, and provides an efficient tool for breeding applications such as QTL analysis and marker-assisted selection.

Development of wild barley (Hordeum chilense)-derived DArT markers and their use into genetic and physical mapping.

Diversity arrays technology (DArT) genomic libraries were developed from H. chilense accessions to support robust genotyping of this species and a novel crop comprising H. chilense genome (e.g., tritordeums). Over 11,000 DArT clones were obtained using two complexity reduction methods. A subset of 2,209 DArT markers was identified on the arrays containing these clones as polymorphic between parents and segregating in a population of 92 recombinant inbred lines (RIL) developed from the cross between H. chilense accessions H1 and H7. Using the segregation data a high-density map of 1,503 cM was constructed with average inter-bin density of 2.33 cM. A subset of DArT markers was also mapped physically using a set of wheat-H. chilense chromosome addition lines. It allowed the unambiguous assignment of linkage groups to chromosomes. Four segregation distortion regions (SDRs) were found on the chromosomes 2H(ch), 3H(ch) and 5H(ch) in agreement with previous findings in barley. The new map improves the genome coverage of previous H. chilense maps. H. chilense-derived DArT markers will enable further genetic studies in ongoing projects on hybrid wheat, seed carotenoid content improvement or tritordeum breeding program. Besides, the genetic map reported here will be very useful as the basis to develop comparative genomics studies with barley and model species.

Development of a new diagnostic marker for growth habit selection in faba bean (Vicia faba L.) breeding.

Faba bean varieties with determinacy of the apical meristem are relevant to green production. A diagnostic CAPS (cleavage amplification polymorphic sequence) marker for determinate growth habit (ti) in faba bean was previously developed by Avila et al. (Mol Breed 17:185-190, 2006) but was effective only on a limited range of cultivars or genotypes. In this study, we studied the reasons for this limited application and developed a new marker useful for most faba bean-breeding programs. By designing a new set of primers, the complete genomic Vf_TFL1 sequences from different genotypes contrasting for the character were obtained and additional base changes associated with the ti phenotype were identified. The comparison among faba bean sequences showed that the previous CAPS marker was based on a SNP (single nucleotide polymorphism) at position 469 in the intron 2-3, a silent mutation. On the contrary, a SNP at position 26 that distinguishes determinate and indeterminate growth habit genotypes lead to an amino acid change (Leu-9 to Arg) in the determinate growth habit genotypes that could account for the ti phenotype. A dCAPS marker based on this SNP that creates a TaqI site in the ti allele was developed. The marker was 100% successful in predicting ti phenotypes in a broad range of faba bean germplasm representing all major cultivars historically grown in Europe. The outcome confirms the utility of the new dCAPS in worldwide marker-assisted selection programs.

CAPs markers to assist selection for low vicine and convicine contents in faba bean (Vicia faba L.).

The antinutritional factors (ANFs) present in Vicia spp. seeds are a major constraint to the wider utilization of these crops as grain legumes. In the case of faba bean (Vicia faba L.), a breeding priority is the absence vicine and convicine (v-c); responsible for favism in humans and for the reduced animal performance or low egg production in laying hens. The discovery of a spontaneous mutant allele named vc-, which induces a 10-20 fold reduction of v-c contents, may facilitate the process. However, the high cost and difficulty of the chemical detection of v-c seriously restricts the advances in breeding-selection. To identify random amplified polymorphic DNA (RAPD) markers linked to this gene, we have analysed an F(2 )population derived from a cross between a line with high v-c content (Vf6) and the vc- genotype (line 1268). Quantification of v-c was done by spectrophotometry on the parents and the F(2 )population (n = 136). By using bulked segregant analysis (BSA), two RAPD markers linked in coupling and repulsion phase to the allele vc- were identified and further converted into sequence characterized amplified regions (SCARs). Amplification of SCARS was more consistent, although the initial polymorphism between pools was lost. To recover the polymorphisms several approaches were explored. Restriction digestion with HhaI (for SCAR SCH01(620)) and RsaI (for SCAR SCAB12(850)) revealed clear differences between the parental lines. The simultaneous use of the two cleavage amplified polymorphism (CAP) markers will allow the correct fingerprinting of faba bean plants and can be efficiently used in breeding selection to track the introgression of the vc- allele to develop cultivars with low v-c content and improved nutritional value.

Isolate and organ-specific QTLs for ascochyta blight resistance in faba bean ( Vicia faba L).

The main objective of the present study was to locate the genomic regions responsible for ascochyta blight resistance in faba bean. Six QTLs were identified with the help of a linkage map constructed from a F(2) population from the cross between the inbred lines 29H (resistant) and VF136 (susceptible). Two pathogenically distinct Ascochyta isolates were used to study the genetic control against them and disease evaluations were performed separately on leaves and stems to investigate whether different genetic systems control resistance in each plant organ, as previously suggested. The six QTLs detected were named Af3 to Af8. Af3 and Af4 were effective against both Ascochyta isolates, Af5 was only effective against isolate CO99-01 while Af6, Af7 and Af8 were only effective against isolate LO98-01. Af3, Af4, Af5 and Af7 were revealed in both leaves and stems. By contrast, Af6 was only effective in leaves and Af8 only in stems. The validity and application of these results in a MAS program is discussed.

Identification of RAPD markers linked to the Uvf-1 gene conferring hypersensitive resistance against rust (Uromyces viciae-fabae) in Vicia faba L.

Bulk segregant analysis was used to identify random amplified polymorphic DNA (RAPD) markers linked to a gene determining hypersensitive resistance in Vicia faba line 2N52 against race 1 of the rust fungus Uromyces viciae-fabae. The monogenic nature of the resistance was determined by analyzing the F(2) population from a cross between resistant line 2N52 and susceptible line VF-176, and further confirmed in the F(2:3)-derived families. Linkage of the RAPD markers was confirmed by screening 55 F(2) plants segregating for resistance. Three RAPD markers (OPD13(736), OPL18(1032) and OPI20(900)) were mapped in coupling phase to the resistance gene for race 1 ( Uvf-1). No recombinants between OPI20(900) and Uvf-1 were detected. Two additional markers (OPP02(1172) and OPR07(930)) were linked to the gene in repulsion phase at a distance of 9.9 and 11.5 cM, respectively. The application of marker-assisted selection to develop new faba bean varieties with rust resistance genes is discussed.

[Gastrointestinal vascular malformation]. / Malformação vascular gastrointestinal.

Dieulafoy's disease, described in 1898, has been considered a rarity. Morphologically is represented by single, large and tortuous artery located in the gastric submucosa and overlying by submucosal defect that is responsible for severe digestive bleeding. We report two cases of this gastrointestinal vascular malformation: one in the stomach and the other in the jejunum. We believe that better knowledge of this lesion and more reports about it are important to decrease the mortality rate in those cases.

Pólipo fibróide inflamatório do estômago: relato de dois casos / Inflamatory fibroid polyps of the stomach: report of two cases

A raridade desta lesäo é constatada quando avaliada a freqüência em nosso material e biópsias. Em oito anos de funcionamento do HU-UFRJ, num total de 37.000 exames, tivemos apenas dois casos de pólipo fibróide inflamatório, que säo agora descritos e analisados anátomo, clínica e patologicamente

Carcinoma adenóide cístico de traquéia: relato de caso / Adenoid cystic carcinoma of the trachea: report of a case

Apresenta-se um caso de carcinoma adenóide cístico (cilindroma) de traquéia e discutem-se características clínicas e morfológicas

Vigilancia de niveles plasmaticos de difenilhidantoina en pacientes epilepticos. / Surveillance of diphenylhydantoin serum levels in epileptic patients

Se presentan los resultados de un estudio realizado en 83 pacientes epilepticos que acudem periodicamente al Servicio de Electroencefalografia del Hospital Infantil de Mexico "Federico Gomez". El objetivo del mismo fue determinar las concentraciones plasmaticas de difenilhidantoina (DFH), obtenidas con diferentes dosis y relacionarlas con el estado clinico del paciente y su electroencefalograma; las muestras sanguineas se analizaron por el metodo de cromatografia de gas liquido. De acuerdo a los hallazgos encontrados, se describe que 55.4% de los pacientes estudiados presentan una concentracion plasmatica de DFH inferior a la considerada como terapeutica; el 38.4% de 39 pacientes no tienen un adecuado control de sus crisis convulsivas y el 46.1% de este grupo presentaron un trazo electroencefalografico anormal y una concentracion plasmatica de DFH inferior a la descrita como terapeutica por diferentes autores

Meningoencefalite amebiana primaria.Relato de caso. / Primary amoebic meningoencephalitis. A case report

Estudo retrospectivo anatomopatologico de um caso de meningoencefalite amebiana primaria ocorrido no Rio de Janeiro em 1972, em paciente jovem e saudavel. O aspecto morfologico a microscopia otica e eletronica demonstrou tratar-se de N. fowleri.Na pesquisa epidemiologica, atual do poco que forneceu agua, veiculo da doenca, para a piscina nao-tratada, nao se isolaram cepas patogenicas de amebas de vida livre