Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic ...women complete androgen insensitivity syndrome (CAIS) to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS).
Objective: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients.
Setting: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis.
Methods: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients.
Results: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4–8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel.
Conclusions: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002–2009 were novel.
AR gene mutations detected during the period 2002–2009 and present in 59 index patients show that 60% of them are novel.
Olive is a key crop in Europe, especially in countries around the Mediterranean Basin. Optimising the parameters of a spray is essential for sustainable pesticide use, especially in high-input ...systems, such as the super-intensive hedgerow system. Parameters may be optimised by adjusting the applied volume and airflow rate of sprays, in addition to the liquid to air proportion and the relationship between air velocity and airflow rate. Two spray experiments using a commercial airblast sprayer were conducted in a super-intensive orchard to study how varying the liquid volume rate (testing volumes of 182, 619, and 1603lha−1) and volumetric airflow rate (with flow rates of 11.93, 8.90, and 6.15m3s−1) influences the coverage parameters and the amount and distribution of deposits in different zones of the canopy.. Our results showed that an increase in the application volume raised the mean deposit and percentage coverage, but decreased the application efficiency, spray penetration, and deposit homogeneity. Furthermore, we found that the volumetric airflow rate had a lower influence on the studied parameters than the liquid volume; however, an increase in the airflow rate improved the application efficiency and homogeneity to a certain threshold, after which the spray quality decreased. This decrease was observed in the high-flow treatment. Our results demonstrate that intermediate liquid volume rates and volumetric airflow rates are required for the optimal spraying of pesticides on super-intensive olive crops, and would reduce current pollution levels.
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•We tested the effect of volume and airflow rates on spray applications.•The tests were carried out in a super-intensive orchard.•Increased application volume resulted in increased spray deposit and coverage.•Increased volume decreased the application efficiency and deposit homogeneity.•The volumetric airflow rate had a lower influence than the volume.
In viviparous fishes, females of species that exhibit matrotrophy (post‐fertilization maternal provisioning to developing embryos) and superfetation (ability of females to bear simultaneously ...multiple broods of embryos at distinct developmental stages) increase less in mass and volume during pregnancy than females of species that lack these traits. Such a reduction in reproductive allocation may provide greater benefits to young and small females for two reasons. First, they could devote energy and resources to both growth and reproduction. Second, they could compensate for the space restrictions that are inherent to a small body size because both superfetation and matrotrophy maximize fecundity for any given ovarian volume. In this study, we test the hypothesis that both matrotrophy and superfetation will decrease over female reproductive lifespan (i.e. as they grow larger). We examined reproductive females from 77 populations of 13 species of the family Poeciliidae. Remarkably, we found support for the matrotrophy prediction in only three populations. As expected, in these populations, small females were more matrotrophic than larger females, which in turn exhibited a predominantly lecithotrophic strategy. In one population, we found the opposite pattern—the degree of matrotrophy actually increased in larger females. With respect to superfetation, none of the populations showed a pattern consistent with our prediction. In fact, in five populations the pattern was opposite to our expectation—larger females produced more simultaneous broods than smaller females. Our findings reveal that the degree of matrotrophy and superfetation can vary throughout the adult lifespans of poeciliid fishes, but such ontogenetic shifts are not common in natural populations.
In this study, we test the hypothesis that both matrotrophy and superfetation will decrease over female reproductive lifespan (i.e. as they grow larger). We examined reproductive females from 77 populations of 13 species of the family Poeciliidae. Our findings reveal that the degree of matrotrophy and superfetation can vary throughout the adult lifespans of poeciliid fishes, but such ontogenetic shifts are not common in natural populations. Photo credit: Ana Laura Hernández‐Rosas
The Hubble Constant from SN Refsdal Vega-Ferrero, J.; Diego, J. M.; Miranda, V. ...
Astrophysical journal. Letters,
02/2018, Letnik:
853, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Hubble Space Telescope observations from 2015 December 11 detected the expected fifth counter-image of supernova (SN) Refsdal at z = 1.49. In this Letter, we compare the time-delay predictions from ...numerous models with the measured value derived by Kelly et al. from very early data in the light curve of the SN Refsdal and find a best value for (68% CL), in excellent agreement with predictions from cosmic microwave background and recent weak lensing data + baryon acoustic oscillations + Big Bang nucleosynthesis (from the DES Collaboration). This is the first constraint on H0 derived from time delays between multiple-lensed SN images, and the first with a galaxy cluster lens, subject to systematic effects different from other time-delay H0 estimates. Additional time-delay measurements from new multiply imaged SNe will allow derivation of competitive constraints on H0.
•A Set-Partitioning-based model for solving this problem is proposed.•This problem is extended to consider a multi-period planning horizon.•Improvements in running time and solution quality over ...earlier approaches.•A new benchmark suite is proposed.
This paper addresses the Berth Allocation Problem under Time-Dependent Limitations. Its goals are to allocate and schedule the available berthing positions for the container vessels arriving toward a maritime container terminal under water depth and tidal constraints. As we discuss, the only optimization model found in the literature does not guarantee the feasibility of the solutions reported in all the cases and is limited to a two-period planning horizon, i.e., one low tide and one high tide period. In this work, we propose an alternative mathematical formulation based upon the Generalized Set Partitioning Problem, which considers a multi-period planning horizon and includes constraints related to berth and vessel time windows. The performance of our optimization model is compared with that of the mathematical model reported in the related literature. In this regard, the computational experiments indicate that our model outperforms the previous one from the literature in several terms: (i) it guarantees the feasibility and optimality of the solutions reported in all the cases, (ii) reduces the computational times about 88 percent on average in the problem instances from the literature, and (iii) presents reasonable computational times in new large problem instances.
•Upon feeding, herbivores secrete saliva, regurgitant and frass that come in contact with the plant.•Herbivore's gut symbionts can also be released during feeding and recognized by the plant.•The ...composition of these secretions and gut microbial community is dependent upon their host plant and the herbivore.•Cues present in herbivore secretions are recognized by plants to trigger defense responses.•Some of these cues can act as effectors or elicitors in a context dependent manner.
Chewing herbivores cause massive damage when crushing plant tissues with their mandibles, thus releasing a vast array of cues that may be perceived by the plant to mobilize defenses. Besides releasing damage cues in wounded tissues, herbivores deposit abundant cues from their saliva, regurgitant and feces that trigger herbivore specific responses in plants. Herbivores can manipulate the perception mechanisms and defense signals to suppress plant defenses by secreting effectors and/or by exploiting their associated oral microbes. Recent studies indicate that both the composition of herbivore cues and the plant's ability to recognize them are highly dependent upon the specific plant–herbivore system. There is a growing amount of work on identifying herbivore elicitors and effectors, but the most significant bottleneck in the discipline is the identification and characterization of plant receptors that perceive these herbivore-specific cues.
A computational protocol has been applied to the alanine dipeptide model in order to study the side-chain conformation, the calculated spin–spin coupling constants involved in the side-chain χ1 ...angle, and theoretical extended Karplus equations developed for amino acids. Two structures within the backbone secondary conformation are used to predict coupling constants which in addition are employed to analyze the effect of those structures on the resulting Karplus extended equations. The number of Fourier coefficients to be included within the Karplus equations is critically analyzed. Wave function and density functional methods as well as different basis sets are compared to find appropriate Karplus coefficients in the most efficient way. The influence of exchange and correlation functionals and the solvent effect on the calculated couplings are considered.
The purpose of this study is to adjust and develop Nordic Safety Climate Questionnaire (NOSACQ-50) specifically for the military domain. Many safety climate instruments have been developed for ...complex organizations but few with a military perspective including military exercises and physical training. Data were collected during two separate occasions, experiment one (n = 956) and experiment two (n = 377). The questionnaire was distributed to civilian and military personnel working in the Swedish Armed Forces and to military cadets. The results of experiment one was then analyzed using principal component analyses and confirmatory factor analyses, the factor structure was reproduced in experiment two. The results from the study confirmed the reliability and validity of NOSACQ-50 as a safety climate instrument in the military organization. However, several new factors were identified with the military safety climate questionnaire (MSCQ). Physical fitness and exercises are important activities in the military but are less important in other organizations which could explain why it isn’t present in traditional safety climate instruments. This study identifies several limitations one being the design of questions suitable for both military and civilian personnel. Another limitation is combat operations, this data collection recognizes the field but was unable to capture data from actual combat operations. Further research is needed to fully develop more dimensions for both exercises and combat operations.
Abstract
The objective of this experiment was to investigate the effects of dietary crude protein (CP) content and crystalline amino acids (CAA) supplementation patterns in low CP (LCP) diets on ...intestinal bacteria and their metabolites in weaned pigs raised under clean (CSC) or unclean sanitary conditions (USC). One hundred forty-four piglets (6.35 ± 0.63 kg) were assigned to one of six treatments in a 3 × 2 factorial arrangement based on CP content and sanitary conditions in a randomized complete block design to give eight replicates with three pigs per pen over a 21-d period. Diets consisted of a high CP (HCP; 21%) and two LCP (18%) diets supplemented with 9 CAA (Lys, Met, Thr, Trp, Val, Ile, Leu, His, and Phe) or only six CAA (Lys, Met, Thr, Trp, Val, and Ile) to meet the requirements. The CSC room was washed weekly, whereas the USC room had sow manure spread in the pens from the beginning of the study and was not washed throughout the experiment. Jejunum and colon digesta were sampled on day 21. Both jejunum and colon digesta were analyzed for ammonia nitrogen, short-chain fatty acids, and biogenic amines but only colon digesta was analyzed for microbiome composition (16s rRNA sequencing on MiSeq). Data were analyzed using R software for 16S rRNA and the MIXED procedure of SAS for microbial metabolites. Sanitation, CP content, and CAA supplementation patterns did not affect the diversity of colonic bacterial composition in weaned pigs. Pigs raised under USC had greater (P < 0.05) jejunal ammonia nitrogen concentration than those raised under CSC. Pigs fed LCP diets had reduced (P < 0.05) jejunal ammonia nitrogen concentration compared to those fed the HCP diet. Interactions between sanitation and dietary CP content were observed (P < 0.05) for: (1) jejunal acetate and (2) colonic spermidine and spermine, whereby (1) acetate concentrations decreased from NCP to LCP in pigs raised under the CSC but those concentrations increased under the USC, and (2) spermidine and spermine concentrations increased in LCP diets compared to HCP diet under USC, unlike CSC which did not show any difference between HCP and LCP. In conclusion, reducing dietary CP lowered ammonia nitrogen content regardless of sanitation and increased microbial metabolites in weaned pigs raised under USC. However, LCP diets with different CAA supplementation patterns did not affect bacterial diversity in weaned pigs, regardless of the hygienic conditions where the animals were housed.
Lowering dietary protein has the potential to improve intestinal health in weaned pigs raised in commercial swine farms.
Lay Summary
Lowering dietary crude protein concentration by 3% to 4% units has been used as one of the strategies to promote growth and improve the gut health of weaned pigs. Undigested and endogenous protein could be available for microbial fermentation, and protein fermentation is considered detrimental to the gut health of the host animal. The unclean sanitary condition model mimics commercial raising conditions and stimulates a low-grade inflammatory and immune response. Ammonia nitrogen is one of the harmful metabolites derived by protein fermentation and pigs fed low-protein diets had decreased ammonia nitrogen than those fed high-protein diets. Also, pigs raised under unclean sanitation had greater ammonia nitrogen than those raised under clean sanitation. However, sanitation, protein content, and crystalline amino acids supplementation patterns did not affect the diversity of colonic bacterial composition in weaned pigs. The results obtained from the present study showed that a low protein diet could be used to improve gut health in weaned pigs.
•Novel machine learning-based system for supporting berthing operations in bulk ports.•The system recommends the best algorithm in most of the studied cases.•Different meta-features for the berth ...allocation problem are investigated.•The system exhibits a relevant robustness when tackling new and unfamiliar scenarios.
The increasing volume of maritime freight is presented as a challenge to those skilled terminal managers seeking to maintain or increase their market share. In this context, an efficient management of scarce resources as berths arises as a reasonable option for reducing costs while enhancing the productivity of the overall terminal. In this work, we tackle the berth scheduling operations by considering the Bulk Berth Allocation Problem (Bulk-BAP). This problem, for a given yard layout and location of the cargo facilities, aims to coordinate the berthing and yard activities for giving service to those vessels arriving at the terminal. Considering the multitude of scenarios arising in this environment and theNo Free Lunch theorem, the drawback concerning the selection of the best algorithm for solving the Bulk-BAP in each particular case is addressed by a Machine Learning-based system. It provides, based on the scenario at hand, a ranking of algorithms sorted by appropriateness. The computational study shows an increase in the quality of the provided solutions when the algorithm to be used is selected according to the features of the instance instead of selecting the best algorithm on average.
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