287 research outputs found
ATRIBUTOS DE CALIDAD DEL GRANO Y LA SÉMOLA DE TRIGO CANDEAL CULTIVADO EN EL DEPARTAMENTO CAPITAL DE LA PROVINCIA DE LA PAMPA
Winter cereals are important in the agricultural production of the semi-arid central Pampas region and among them the most widespread is bread wheat (Triticum aestivum L.). In this area, durum wheat (Triticum durum Desf) is not yet cultivated, although it is a crop with good performance for semi-arid zones. Grain and semolina industrial quality of four genotypes of wheat durum cultivated in the Capital department in the province of La Pampa, Argentina, under different nitrogen availability were analyzed. Field work was carried out with four genotypes: Bonaerense INTA Cariló, Ciccio, Buck Cristal and Concadoro and two levels of nitrogen availability in tillering and flowering. There were significant differences among cultivars in all studied characteristics. Nitrogen fertilization increased in some genotypes grain protein concentration and vitreousness. The percent of vitreousness and the yellow pigment content were low, and in the semolina dough there was a high loss of pigment due to the processing associated with the lipoxigenasa activity. Semolina had a high glutenin/gliadin ratio indicating that it would be strong gluten. These results showed that grain and semolina quality attributes were satisfactory although it is necessary to continue generating industrial quality information, evaluating the response of others cultivars particularly, chosen genotypes that allow the optimization of nitrogen fertilization in La Pampa province.Los cereales de invierno son importantes en la producción agropecuaria de la región semiárida pampeana central y dentro de ellos el más difundido es el trigo pan (Triticum aestivum L.). En esta zona no se cultiva aún el trigo candeal (Triticum durum Desf), aunque es un cultivo con buena performance para zonas semiáridas. El objetivo de este trabajo fue evaluar la calidad industrial del grano y la sémola de cuatro genotipos de trigo candeal cultivados en el departamento Capital de la provincia de La Pampa, Argentina, bajo diferente disponibilidad de nitrógeno. Se trabajó a campo con cuatro genotipos: Bonaerense INTA Cariló, Ciccio, Buck Cristal y Concadoro y dos niveles de disponibilidad de nitrógeno en macollaje y floración. Se observó diferencias entre los genotipos en todas las variables estudiadas. La fertilización nitrogenada aumentó en algunos genotipos la concentración de proteína en grano y la vitreosidad. El porcentaje de vitreosidad y el contenido de pigmento amarillo fueron bajos y en la masa de sémola hubo una alta pérdida de pigmento por el procesamiento asociado a la actividad de la lipoxigenasa. La sémola tuvo una alta relación gluteninas/gliadinas, indicando que se trataría de un gluten fuerte. Estos resultados pusieron en evidencia que los atributos de calidad del grano y la sémola fueron satisfactorios, aunque es necesario continuar generando información de la calidad industrial, evaluando la respuesta de otros cultivares, particularmente eligiendo genotipos que permitan la optimización de la fertilización nitrogenada en la provincia de La Pampa
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c.437G>C/p.Gly146Ala variant is common in individuals with a DSD and has been suggested to act as a susceptibility factor for adrenal disease or cryptorchidism. Since the allele frequency is high in the general population, and the functional testing of the p.Gly146Ala variant revealed inconclusive results, the disease-causing effect of this variant has been questioned. However, a role as a disease modifier is still possible given that oligogenic inheritance has been described in patients with NR5A1/SF-1 variants. Therefore, we performed next generation sequencing (NGS) in 13 DSD individuals harboring the NR5A1/SF-1 p.Gly146Ala variant to search for other DSD-causing variants and clarify the function of this variant for the phenotype of the carriers. Panel and whole-exome sequencing was performed, and data were analyzed with a filtering algorithm for detecting variants in NR5A1- and DSD-related genes. The phenotype of the studied individuals ranged from scrotal hypospadias and ambiguous genitalia in 46,XY DSD to opposite sex in both 46,XY and 46,XX. In nine subjects we identified either a clearly pathogenic DSD gene variant (e.g. in AR) or one to four potentially deleterious variants that likely explain the observed phenotype alone (e.g. in FGFR3, CHD7). Our study shows that most individuals carrying the NR5A1/SF-1 p.Gly146Ala variant, harbor at least one other deleterious gene variant which can explain the DSD phenotype. This finding confirms that the NR5A1/SF-1 p.Gly146Ala variant may not contribute to the pathogenesis of DSD and qualifies as a benign polymorphism. Thus, individuals, in whom the NR5A1/SF-1 p.Gly146Ala gene variant has been identified as the underlying genetic cause for their DSD in the past, should be re-evaluated with a NGS method to reveal the real genetic diagnosis
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Rarity of monodominance in hyperdiverse Amazonian forests.
Tropical forests are known for their high diversity. Yet, forest patches do occur in the tropics where a single tree species is dominant. Such "monodominant" forests are known from all of the main tropical regions. For Amazonia, we sampled the occurrence of monodominance in a massive, basin-wide database of forest-inventory plots from the Amazon Tree Diversity Network (ATDN). Utilizing a simple defining metric of at least half of the trees ≥ 10 cm diameter belonging to one species, we found only a few occurrences of monodominance in Amazonia, and the phenomenon was not significantly linked to previously hypothesized life history traits such wood density, seed mass, ectomycorrhizal associations, or Rhizobium nodulation. In our analysis, coppicing (the formation of sprouts at the base of the tree or on roots) was the only trait significantly linked to monodominance. While at specific locales coppicing or ectomycorrhizal associations may confer a considerable advantage to a tree species and lead to its monodominance, very few species have these traits. Mining of the ATDN dataset suggests that monodominance is quite rare in Amazonia, and may be linked primarily to edaphic factors
Validation of mobile phone use recall in the multinational MOBI‐kids study
Potential differential and non‐differential recall error in mobile phone use(MPU) in the multinational MOBI‐Kids case–control study were evaluated.We compared self‐reported MPU with network operator billing record data up to 3 months, 1 year, and 2 years before the interview date from 702subjects aged between 10 and 24 years in eight countries. Spearman rankcorrelations, Kappa coefficients and geometric mean ratios (GMRs) wereused. No material differences in MPU recall estimates between cases andcontrols were observed. The Spearman rank correlation coefficientsbetween self‐reported and recorded MPU in the most recent 3 monthswere 0.57 and 0.59 for call number and for call duration, respectively. Thenumber of calls was on average underestimated by the participants(GMR = 0.69), while the duration of calls was overestimated (GMR = 1.59).Country, years since start of using a mobile phone, age at time of interview,and sex did not appear to influence recall accuracy for either call number orcall duration. A trend in recall error was seen with level of self‐reportedMPU, with underestimation of use at lower levels and overestimation of useat higher levels for both number and duration of calls. Although bothsystematic and random errors in self‐reported MPU among participantswere observed, there was no evidence of differential recall error betweencases and controls. Nonetheless, these sources of exposure measurementerror warrant consideration in interpretation of the MOBI‐Kids case–controlstudy results on the association between children's use of mobile phonesand potential brain cancer risk
Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis
Osteoarthritis is one of the most frequent and disabling diseases of the elderly. Only few genetic variants have been identified for osteoarthritis, which is partly due to large phenotype heterogeneity. To reduce heterogeneity, we here examined cartilage thickness, one of the structural components of joint health. We conducted a genome-wide association study of minimal joint space width (mJSW), a proxy for cartilage thickness, in a discovery set of 13,013 participants from five different cohorts and replication in 8,227 individuals from seven independent cohorts. We identified five genome-wide significant (GWS, P≤5·0×10−8) SNPs annotated to four distinct loci. In addition, we found two additional loci that were significantly replicated, but results of combined meta-analysis fell just below the genome wide significance threshold. The four novel associated genetic loci were located in/near TGFA (rs2862851), PIK3R1 (rs10471753), SLBP/FGFR3 (rs2236995), and TREH/DDX6 (rs49654
Prediagnostic concentrations of plasma genistein and prostate cancer risk in 1,605 men with prostate cancer and 1,697 matched control participants in EPIC
PURPOSE: Data from prospective epidemiological studies in Asian populations and from experimental studies in animals and cell lines suggest a possible protective association between dietary isoflavones and the development of prostate cancer. We examined the association between circulating concentrations of genistein and prostate cancer risk in a case-control study nested in the European Prospective Investigation into Cancer and Nutrition. METHODS: Concentrations of the isoflavone genistein were measured in prediagnostic plasma samples for 1,605 prostate cancer cases and 1,697 matched control participants. Relative risks (RRs) for prostate cancer in relation to plasma concentrations of genistein were estimated by conditional logistic regression. RESULTS: Plasma genistein concentrations were not associated with prostate cancer risk; the multivariate relative risk for men in the highest fifth of genistein compared with men in the lowest fifth was 1.00 (95 % confidence interval: 0.79, 1.27; p linear trend = 0.82). There was no evidence of heterogeneity in this association by age at blood collection, country of recruitment, or cancer stage or histological grade. CONCLUSION: Plasma genistein concentration was not associated with prostate cancer risk in this large cohort of European men
Therapeutic implications of selecting the SCORE (European) versus the D'AGOSTINO (American) risk charts for cardiovascular risk assessment in hypertensive patients
Background: No comparisons have been made of scales estimating cardiovascular mortality and overall cardiovascular morbidity and mortality. The study objectives were to assess the agreement between the Framingham-D'Agostino cardiovascular risk (CVR) scale and the chart currently recommended in Europe (SCORE) with regard to identification of patients with high CVR, and to describe the discrepancies between them and the attendant implications for the treatment of hypertension and hyperlipidaemia. Methods: A total of 474 hypertensive patients aged 40-65 years monitored in primary care were enrolled into the study. CVR was assessed using the Framingham-D'Agostino scale, which estimates the overall cardiovascular morbidity and mortality risk, and the SCORE chart, which estimates the cardiovascular mortality risk. Cardiovascular risk was considered to be high for values ≥ 20% and ≥ 5% according to the Framingham-D'Agostino and SCORE charts respectively. Kappa statistics was estimated for agreement in classification of patients with high CVR. The therapeutic recommendations in the 2007 European Guidelines on Cardiovascular Disease Prevention were followed. Results
Identification of a targetable KRAS-mutant epithelial population in non-small cell lung cancer
Lung cancer is the leading cause of cancer deaths. Tumor heterogeneity, which hampers development of targeted therapies, was herein deconvoluted via single cell RNA sequencingin aggressive human adenocarcinomas (carrying Kras-mutations) and comparable murine model. We identified a tumor-specific, mutant-KRAS-associated subpopulation which is conserved in both human and murine lung cancer. We previously reported a key role for the oncogene BMI-1 in adenocarcinomas. We therefore investigated the effects of in vivo PTC596 treatment, which affects BMI-1 activity, in our murine model. Post-treatment, MRI analysis showed decreased tumor size, while single cell transcriptomics concomitantly detected near complete ablation of the mutant-KRAS-associated subpopulation, signifying the presence of a pharmacologically targetable, tumor-associated subpopulation. Our findings therefore hold promise for the development of a targeted therapy for KRAS-mutant adenocarcinomas
Predicted Impact of COVID-19 on Neglected Tropical Disease Programs and the Opportunity for Innovation
Due to the COVID-19 pandemic, many key neglected tropical disease (NTD) activities have been postponed. This hindrance comes at a time when the NTDs are progressing towards their ambitious goals for 2030. Mathematical modelling on several NTDs, namely gambiense sleeping sickness, lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminthiases (STH), trachoma, and visceral leishmaniasis, shows that the impact of this disruption will vary across the diseases. Programs face a risk of resurgence, which will be fastest in high-transmission areas. Furthermore, of the mass drug administration diseases, schistosomiasis, STH, and trachoma are likely to encounter faster resurgence. The case-finding diseases (gambiense sleeping sickness and visceral leishmaniasis) are likely to have fewer cases being detected but may face an increasing underlying rate of new infections. However, once programs are able to resume, there are ways to mitigate the impact and accelerate progress towards the 2030 goals.</p
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