Utilidad del Cobas® Taqman® Ct Test, v2.0 para la detección de cepas de Chlamydia Trachomatis circulantes en México

Objective: This study aimed to evaluate the usefulness of the qPCR de COBAS® TaqMan® CT test to detect circulating strains in Mexico. Materials and Methods: Descriptive and transversal study. We analyzed 413 endocervical cases for the COBAS® system of patients with infertility, with the diagnosis of C. trachomatis. that acudieron has the Clínica ETS del Instituto Nacional de Perinatología (INPer) in the Ciudad de México. Las muestras positivas también analizaron por el sistema Abbot Real-time CT / NG, y por PCR de punto final para la detección de plásmido. Las variables de estudio fueron: Infertilidad, diagnóstico de Chlamydia trachomatis, infección por Chlamydia y otras variables. To determine the association between CT infection and clinical data, Fisher's no parametric exact test was used. A value p<0.05 was considered significant. Results: Of the 413 deaths, 276 female patients with primary infertility and 137 with secondary infertility, they ranged from 20 to 42 years. The main cause of primary infertility is endocrine-ovarian factor and secondary infertility is tuboperitoneal factor. Of 22 positive cases, a significant association between infertility by tubárico factor and infection by C. trachomatis (RR = 2.47 95% CI 1.1-5.5, p <0.05) was demonstrated by COBAS prueba ® TaqMan® CT. De éstas solo 5 fueron identificadas por el sistema Abbott (p <0.011). Conclusion. El sistema de COBAS® TaqMan® CT de Roche Molecular Diagnostic mostró mayor utilidad para identificar las cepas de CT que están circulando en México. Conclusion: The COBAS® TaqMan® CT test from Roche Molecular Diagnostic showed more utility in identifying the CT strains that circulate in Mexico.Objetivo: Evaluar la utilidad de la prueba de qPCR de COBAS® TaqMan® Chlamydia trachomatis (CT) para la detección de cepas circulantes en México. Materiales y Métodos: Estudio descriptivo y transversal. Se analizaron 413 muestras endocervicales por el sistema COBAS® de pacientes con infertilidad, con el diagnóstico de C. trachomatis. que acudieron a la Clínica ETS del Instituto Nacional de Perinatología (INPer) en la Ciudad de México. Las muestras positivas también analizaron por el sistema Abbot Real-time CT / NG, y por PCR de punto final para la detección de plásmido. Las variables de estudio fueron: Infertilidad, diagnóstico de Chlamydia trachomatis, infección por Chlamydia y otras variables. Para determinar la asociación entre la infección por CT y los datos clínicos se utilizó la prueba no paramétrica exacta de Fisher. Un valor p<0.05 fue considerado como significativo. Resultados: De las 413 muestras, 276 pacientes femeninas con infertilidad primaria y 137 de infertilidad secundaria, con edades de 20 a 42 años. La principal causa de infertilidad primaria fue factor endocrino-ovárico y de infertilidad secundaria fue el factor tuboperitoneal. De 22 muestras fueron positivas, una asociación significativa entre la infertilidad por factor tubárico y la infección por C. trachomatis (RR = 2,47 IC95% 1,1-5,5, p <0,05) fue demostrada por la prueba COBAS® TaqMan® CT. De éstas solo 5 fueron identificadas por el sistema Abbott (p <0.011). Conclusión: El sistema de COBAS® TaqMan® CT de Roche Molecular Diagnostic mostró mayor utilidad para identificar las cepas de CT que están circulando en México

A Common Genetic Origin for Early Farmers from Mediterranean Cardial and Central European LBK Cultures

The spread of farming out of the Balkans and into the rest of Europe followed two distinct routes: An initial expansión represented by the Impressa and Cardial traditions, which followed the Northern Mediterranean coastline; and another expansion represented by the LBK (Linearbandkeramik) tradition, which followed the Danube River into Central Europe. Although genomic data now exist from samples representing the second migration, such data have yet to be successfully generated from the initial Mediterranean migration. To address this, we generated the complete genome of a 7,400-yearold Cardial individual (CB13) from Cova Bonica in Vallirana (Barcelona), as well as partial nuclear data from five others excavated from different sites in Spain and Portugal. CB13 clusters with all previously sequenced early European farmers and modern-day Sardinians. Furthermore, our analyses suggest that both Cardial and LBK peoples derived from a common ancient population located in or around the Balkan Peninsula. The Iberian Cardial genome also carries a discernible huntergatherer genetic signature that likely was not acquired by admixture with local Iberian foragers. Our results indicate that retrieving ancient genomes from similarly warm Mediterranean environments such as the Near East is technically feasible

Flavonoid supplementation affects the expression of genes involved in cell wall formation and lignification metabolism and increases sugar content and saccharification in the fast-growing eucalyptus hybrid E. urophylla x E. grandis

BackgroundEucalyptus species are the most widely planted hardwood species in the world and are renowned for their rapid growth and adaptability. In Brazil, one of the most widely grown Eucalyptus cultivars is the fast-growing Eucalyptus urophylla x Eucalyptus grandis hybrid. In a previous study, we described a chemical characterization of these hybrids when subjected to flavonoid supplementation on 2 distinct timetables, and our results revealed marked differences between the wood composition of the treated and untreated trees.ResultsIn this work, we report the transcriptional responses occurring in these trees that may be related to the observed chemical differences. Gene expression was analysed through mRNA-sequencing, and notably, compared to control trees, the treated trees display differential down-regulation of cell wall formation pathways such as phenylpropanoid metabolism as well as differential expression of genes involved in sucrose, starch and minor CHO metabolism and genes that play a role in several stress and environmental responses. We also performed enzymatic hydrolysis of wood samples from the different treatments, and the results indicated higher sugar contents and glucose yields in the flavonoid-treated plants.ConclusionsOur results further illustrate the potential use of flavonoids as a nutritional complement for modifying Eucalyptus wood, since, supplementation with flavonoids alters its chemical composition, gene expression and increases saccharification probably as part of a stress response.Electronic supplementary materialThe online version of this article (doi:10.1186/s12870-014-0301-8) contains supplementary material, which is available to authorized users

Minor malformations and other morphological abnormalities in series of fetal and perinatal necropsies in Bogota

OBJETIVO: Revisar las definiciones de los cambios morfológicos y clasificaciones de las alteraciones observadas en necropsias fetales y neonatales y analizar su relación con la causa de muerte y los demás padecimientos fetales y maternos conocidos. MATERIALES Y MÉTODOS: Estudio observacional y descriptivo de necropsias fetales y perinatales para detallar las características anatómicas de fetos y recién nacidos excluidas de los criterios de normalidad y su correlación con los factores placentarios, las condiciones clínicas maternas, y los desenlaces fetales y del recién nacido. RESULTADOS: En 87 necropsias perinatales se observó predominio de los hallazgos de malformaciones en el sexo femenino, en madres entre 18 y 35 años y en individuos con maceración severa. Las malformaciones mayores más frecuentes ocurrieron en la cara, el abdomen y el esqueleto. En las malformaciones menores predominaron las esqueléticas (clinodactilia (36.75%), braquidactilia (23.52%), brecha de la separación entre el primer y segundo dedos del pie (Sandal gap) (14.7%); faciales (puente nasal deprimido (58.24%), glosoptosis (16.64%) hipertelorismo (8.32%)) y de cuello (alado (31.25%), corto (37.5%) y elongado (18.75%)). Como rupturas se encontraron bandas amnióticas que abarcaban amplios segmentos (2.29%). La deformidad más frecuente fue el pie en equino varo (6.89%). CONCLUSIÓN: En nuestra observación interdisciplinaria enfocada a las muertes perinatales se encontró relación entre cromosomopatía y aborto retenido. Los cambios morfológicos más frecuentes correspondieron a malformaciones menores. Todo cambio en la morfología de un recién nacido o de un feto puede ser la clave del diagnóstico principal, por ello deben reconocerse y distinguirse entre sí para orientar el futuro obstétrico de las familias, brindar consejería genética y lograr que trasciendan a la salud pública.1-10BACKGROUND: During autopsy morphological abnormalities should be classified in major or minor malformations, disruptions, sequences, deformities, trauma, changes attributable to fixation, intrauterine death, or manipulation, among others. Appropriate counseling in genetics and obstetrics is going to depend on this approach. In the current study we want to know the frequencies of morphological changes and their association with clinical presentations. MATERIALS AND METHODS: Observational descriptive study carried out on consecutive perinatal autopsies product from natural deaths in which morphological changes were classified. RESULTS: In 87 perinatal autopsies a female predominance was observed, as well as a major occurrence in mothers between 18 and 35 years and in individuals with severe maceration. The most frequent major malformations were found in the face, abdomen and skeleton. Among minor malformations, the skeletal ones were the most predominant (clinodactyly (36.75%), brachydactyly (23.52%), sandal gap (14.7%)); followed by facial anomalies (depressed nasal bridge (58.24%), glossoptosis (16.64%), hypertelorism (8.32%); and, neck defects (winged neck (31.25%), short (37.5%), elongated (18.75%). Among disruptions, amniotic bands were found covering large segments (2.29%). The most frequent deformity was equinovarus foot (6.89%). CONCLUSIONS: In the present interdisciplinary observation focused on perinatal deaths, a relation between cromosomopathies and severe maceration was identified. The most frequent morphological features corresponded to minor malformations. Any change in the morphology of a newborn or a fetus may be the key to the main diagnosis. For this reason, morphological changes must to be recognized and distinguished among them to guide the reproductive future of the families, provide genetic counseling and achieve a positive impact on public health

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95% = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total cholesterol (O.R. = 0.16, CI95% = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95% = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68%) with elevated serum triglyceride levels, compared to patients (48%, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors

Applying genetic technologies to combat infectious diseases in aquaculture

Disease and parasitism cause major welfare, environmental and economic concerns for global aquaculture. In this review, we examine the status and potential of technologies that exploit genetic variation in host resistance to tackle this problem. We argue that there is an urgent need to improve understanding of the genetic mechanisms involved, leading to the development of tools that can be applied to boost host resistance and reduce the disease burden. We draw on two pressing global disease problems as case studies—sea lice infestations in salmonids and white spot syndrome in shrimp. We review how the latest genetic technologies can be capitalised upon to determine the mechanisms underlying inter- and intra-species variation in pathogen/ parasite resistance, and how the derived knowledge could be applied to boost disease resistance using selective breeding, gene editing and/or with targeted feed treatments and vaccines. Gene editing brings novel opportunities, but also implementation and dissemination challenges, and necessitates new protocols to integrate the technology into aquaculture breeding programmes. There is also an ongoing need to minimise risks of disease agents evolving to overcome genetic improvements to host resistance, and insights from epidemiological and evolutionary models of pathogen infestation in wild and cultured host populations are explored. Ethical issues around the different approaches for achieving genetic resistance are discussed. Application of genetic technologies and approaches has potential to improve fundamental knowledge of mechanisms affecting genetic resistance and provide effective pathways for implementation that could lead to more resistant aquaculture stocks, transforming global aquaculture.publishedVersio