Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development

This paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. This is a relevant question, because extensive phenotypic variability occurs in gonads and sex ducts. With the advance of video endoscopy and laparoscopy, fresh insight in gonadal and sex duct anatomy is emerging. So far, an attempt to standardize the diagnostic approach and, in particular, how to document these findings has not been published. We propose a standardized examination schedule for these procedures. It consists of 5 pictures of relevant anatomic features. For laparoscopy, it includes two pictures each of gonads and sex ducts on either side and an image of the retrovesical space. For endoscopy, the examination of the ureteric orifices, the posterior urethra, and the urogenital sinus derivates is recommended. Adherence of a standardized schedule and image storing enhances patient autonomy, because they can carry their examination for a second opinion without need for repeated examination. Physicians and scientists create a structured image library that facilitates the comparison of clinical outcomes, research on genotype phenotype associations and may lead to better classifications

Ion structure in warm dense matter: benchmarking solutions of hypernetted-chain equations by first-principle simulations

We investigate the microscopic structure of strongly coupled ions in warm dense matter using ab initio simulations and hypernetted chain (HNC) equations. We demonstrate that an approximate treatment of quantum effects by weak pseudopotentials fails to describe the highly degenerate electrons in warm dense matter correctly. However, one-component HNC calculations for the ions agree well with first-principles simulations if a linearly screened Coulomb potential is used. These HNC results can be further improved by adding a short-range repulsion that accounts for bound electrons. Examples are given for recently studied light elements, lithium and beryllium, and for aluminum where the extra short-range repulsion is essential

Two-Dimensional Hydrodynamic Models of Super Star Clusters with a Positive Star Formation Feedback

Using the hydrodynamic code ZEUS, we perform 2D simulations to determine the fate of the gas ejected by massive stars within super star clusters. It turns out that the outcome depends mainly on the mass and radius of the cluster. In the case of less massive clusters, a hot high velocity ($\sim 1000$ km s$^{-1}$) stationary wind develops and the metals injected by supernovae are dispersed to large distances from the cluster. On the other hand, the density of the thermalized ejecta within massive and compact clusters is sufficiently large as to immediately provoke the onset of thermal instabilities. These deplete, particularly in the central densest regions, the pressure and the pressure gradient required to establish a stationary wind, and instead the thermally unstable parcels of gas are rapidly compressed, by a plethora of re-pressurizing shocks, into compact high density condensations. Most of these are unable to leave the cluster volume and thus accumulate to eventually feed further generations of star formation. The simulations cover an important fraction of the parameter-space, which allows us to estimate the fraction of the reinserted gas which accumulates within the cluster and the fraction that leaves the cluster as a function of the cluster mechanical luminosity, the cluster size and heating efficiency.Comment: Accepted for publication in ApJ; 27 pages, 9 figures, 1 tabl

Identification and characterization of DAMs mutations associated with early blooming in sweet cherry, and validation of DNA-based markers for selection

Dormancy release and bloom time of sweet cherry cultivars depend on the environment and the genotype. The knowledge of these traits is essential for cultivar adaptation to different growing areas, and to ensure fruit set in the current climate change scenario. In this work, the major sweet cherry bloom time QTL qP-BT1.1m (327 Kbs; Chromosome 1) was scanned for candidate genes in the Regina cv genome. Six MADS-box genes (PavDAMs), orthologs to peach and Japanese apricot DAMs, were identified as candidate genes for bloom time regulation. The complete curated genomic structure annotation of these genes is reported. To characterize PavDAMs intra-specific variation, genome sequences of cultivars with contrasting chilling requirements and bloom times (N = 13), were then mapped to the ‘Regina’ genome. A high protein sequence conservation (98.8–100%) was observed. A higher amino acid variability and several structural mutations were identified in the low-chilling and extra-early blooming cv Cristobalina. Specifically, a large deletion (694 bp) upstream of PavDAM1, and various INDELs and SNPs in contiguous PavDAM4 and -5 UTRs were identified. PavDAM1 upstream deletion in ‘Cristobalina’ revealed the absence of several cis-acting motifs, potentially involved in PavDAMs expression. Also, due to this deletion, a non-coding gene expressed in late-blooming ‘Regina’ seems truncated in ‘Cristobalina’. Additionally, PavDAM4 and -5 UTRs mutations revealed different splicing variants between ‘Regina’ and ‘Cristobalina’ PavDAM5. The results indicate that the regulation of PavDAMs expression and post-transcriptional regulation in ‘Cristobalina’ may be altered due to structural mutations in regulatory regions. Previous transcriptomic studies show differential expression of PavDAM genes during dormancy in this cultivar. The results indicate that ‘Cristobalina’ show significant amino acid differences, and structural mutations in PavDAMs, that correlate with low-chilling and early blooming, but the direct implication of these mutations remains to be determined. To complete the work, PCR markers designed for the detection of ‘Cristobalina’ structural mutations in PavDAMs, were validated in an F2 population and a set of cultivars. These PCR markers are useful for marker-assisted selection of early blooming seedlings, and probably low-chilling, from ‘Cristobalina’, which is a unique breeding source for these traits. © Copyright © 2021 Calle, Grimplet, Le Dantec and Wünsch

Structure of strongly coupled, multi-component plasmas

We investigate the short-range structure in strongly coupled fluidlike plasmas using the hypernetted chain approach generalized to multicomponent systems. Good agreement with numerical simulations validates this method for the parameters considered. We found a strong mutual impact on the spatial arrangement for systems with multiple ion species which is most clearly pronounced in the static structure factor. Quantum pseudopotentials were used to mimic diffraction and exchange effects in dense electron-ion systems. We demonstrate that the different kinds of pseudopotentials proposed lead to large differences in both the pair distributions and structure factors. Large discrepancies were also found in the predicted ion feature of the x-ray scattering signal, illustrating the need for comparison with full quantum calculations or experimental verification

Fruit size and firmness QTL alleles of breeding interest identified in a sweet cherry ‘Ambrunés’ × ‘Sweetheart’ population

The Spanish local cultivar ‘Ambrunés’ stands out due to its high organoleptic quality and fruit firmness. These characteristics make it an important parent for breeding cherries with excellent fresh and post-harvest quality. In this work, an F1 sweet cherry population (n = 140) from ‘Ambrunés’ × ‘Sweetheart’ was phenotyped for 2 years for fruit diameter, weight and firmness and genotyped with the RosBREED cherry Illumina Infinium® 6K SNP array v1. These data were used to construct a linkage map and to carry out quantitative trait locus (QTL) mapping of these fruit quality traits. Genotyping of the parental cultivars revealed that ‘Ambrunés’ is highly heterozygous, and its genetic map is the longest reported in the species using the same SNP array. Phenotypic data analyses confirmed a high heritability of fruit size and firmness and a distorted segregation towards softer and smaller fruits. However, individuals with larger and firmer fruits than the parental cultivars were observed, revealing the presence of alleles of breeding interest. In contrast to other genetic backgrounds in which a negative correlation was observed between firmness and size, in this work, no correlation or low positive correlation was detected between both traits. Firmness, diameter and weight QTLs detected validated QTLs previously found for the same traits in the species, and major QTLs for the three traits were located on a narrow region of LG1 of ‘Ambrunés’. Haplotype analyses of these QTLs revealed haplotypes of breeding interest in coupling phase in ‘Ambrunés’, which can be used for the selection of progeny with larger and firmer fruits

Relationships between various characterisations of wave tails

One can define several properties of wave equations that correspond to the absence of tails in their solutions, the most common one by far being Huygens' principle. Not all of these definitions are equivalent, although they are sometimes assumed to be. We analyse this issue in detail for linear scalar waves, establishing some relationships between the various properties. Huygens' principle is almost always equivalent to the characteristic propagation property, and in two spacetime dimensions the latter is equivalent to the zeroth order progressing wave propagation property. Higher order progressing waves in general do have tails, and do not seem to admit a simple physical characterisation, but they are nevertheless useful because of their close association with exactly solvable two-dimensional equations.Comment: Plain TeX, 26 page

Rede Leite: programa em rede de pesquisa-desenvolvimento em sistemas de produção com pecuária e leite no noroeste do Rio Grande do Sul.

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Novel highly potent and selective sigma1 receptor antagonists effectively block the binge eating episode in female rats

In this paper, the benzo-cracking approach was applied to the potent sigma1 (σ1) receptor antagonist 1 to afford the less conformationally constrained 1,3-dioxane derivatives 2 and 3. To evaluate the effect of the increase in the distance between the two hydrophobic structural elements that flank the basic function, the cis and trans diastereomers of 4 and 5 were also prepared and studied. Compounds 2 and 3 showed affinity values at the σ1 receptor significantly higher than that of the lead compound 1. In particular, 3 displayed unprecedented selectivity over the σ2 receptor, the phencyclidine site of the NMDA receptor, and opioid receptor subtypes, as well as over the dopamine transporter. Docking results supported the structure-activity relationship studies. Due to its interesting biological profile, derivative 3, selected for an in vivo study in a validated preclinical model of binge eating, was able to counteract the overeating of palatable food only in binging rats, without affecting palatable food intake in the control group and anxiety-like and depression-related behaviors in female rats. This result strengthened the involvement of the σ1 receptor in the compulsive-like eating behavior and supported the σ1 receptor as a promising target for the management of eating disorders

The New IR FEL Facility at the Fritz-Haber-Institut in Berlin

A mid-infrared oscillator FEL has been commissioned at the Fritz-Haber-Institut. The accelerator consists of a thermionic gridded gun, a subharmonic buncher and two S-band standing-wave copper structures [1,2]. It provides a final electron energy adjustable from 15 to 50 MeV, low longitudinal (<50 keV-ps) and transverse emittance (<20 π mm-mrad), at more than 200 pC bunch charge with a micro-pulse repetition rate of 1 GHz and a macro-pulse length of up to 15 μs. Regular user operation started in Nov. 2013 with 6 user stations. Pulsed radiation with up to 100 mJ macro-pulse energy at about 0.5% FWHM bandwidth is routinely produced in the wavelength range from 4 to 48 μm. We will describe the FEL design and its performance as determined by IR power, bandwidth, and micro-pulse length measurements. Further, an overview of the new FHI FEL facility and first user results will be given. The latter include, for instance, spectroscopy of bio-molecules (peptides and small proteins) conformer selected or embedded in superfluid helium nano-droplets at 0.4 K, as well as vibrational spectroscopy of mass-selected metal-oxide clusters and protonated water clusters in the gas phase