Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation ...and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which may, to some extent, account for the variable spectrum of observed phenotypes. We report here a pregnancy conceived using intrauterine insemination in a 32-year-old female with a history of infertility. Non-invasive prenatal screening (NIPS) was performed in the first trimester which reported an increased risk for trisomy 13. Follow-up cytogenetic workup using chorionic villus sampling (CVS) and amniotic fluid samples showed a mosaic karyotype with a small supernumerary marker chromosome (sSMC). Chromosomal microarray analysis (CMA) identified a mosaic 31.34 Mb terminal gain on chr13q31.1q34 showing the likely origin of the sSMC to distal chromosome 13q. Follow-up metaphase FISH testing suggested an inverted duplication rearrangement involving 13q31q34 in the marker chromosome and the presence of a neocentromere. At 21 months of age, the proband has a history of gross motor delay, hypotonia, left microphthalmia, strabismus, congenital anomaly of the right optic nerve, hemangiomas, and a tethered spinal cord. Postnatal chromosome analyses in buccal, peripheral blood, and spinal cord ligament tissues were consistent with the previous amniocentesis and CVS findings, and the degree of mosaicism varied from 25 to 80%. It is often challenging to pinpoint the chromosomal identity of sSMCs using banding cytogenetics. A combination of low-pass genome sequencing of cell-free DNA, chromosomal microarray, and FISH enabled the identification of the precise chromosomal rearrangement in this patient. This study adds to the growing list of clinically identified neocentric marker chromosomes and is the first described instance of partial tetrasomy 13q31q34 identified in a mosaic state prenatally. Since NIPS is now being routinely performed along with invasive testing for advanced maternal age, an increased prenatal detection rate for mosaic sSMCs in otherwise normal pregnancies is expected. Future studies investigating how neocentromeres mediate gene expression changes could help identify potential epigenetic targets as treatment options to rescue or reverse the phenotypes seen in patients with congenital neocentromeres.
The surface of Mercury is subject to space weathering that complicates remote sensing data analysis. We present an experimental study performed on Mercury volcanic surface analogues to provide a ...better constraint on spectral alterations induced by solar wind. We used 20 keV He+ with fluences up to 5 × 1017 ions/cm2 to simulate ion irradiation reaching the surface. Terrestrial ultramafic lava already identified as good analogues for Mercury were used: a boninite, a basaltic komatiite and a komatiite. Spectra were acquired in the visible to mid-infrared (VMIR) wavelength range, between 0.4 and 16 μm. Spectral alterations induced by irradiation are observed. In the visible to near-infrared (VNIR) samples show an exponential darkening, a reddening and a flattening of spectra. Above a certain irradiation dose (1 × 1017 ions/cm2 in our conditions), the darkening reaches a plateau while the reddening and flattening do not show any definable trend. In the mid-infrared (MIR) we observe a shift of Reststrahlen bands towards longer wavelengths (≤0.42 μm). The Christiansen feature is shifted towards longer or shorter wavelengths according to the irradiation dose (≤0.2 μm). The spectral alteration is closely influenced by the composition. As Mercury's surface is compositionally heterogeneous, the degree of spectral alteration varies on the planet and putatively participates in the heterogeneous spectral properties of the surface. This work provides ground-truth data for future ESA-JAXA-BepiColombo observations. The alteration of VMIR spectral features induced by ion irradiation simulated in the laboratory will be used for future SIMBIO-SYS (Spectrometer and Imaging for MPO BepiColombo Integrated Observatory SYStem) and MERTIS (Mercury Radiometer and Thermal Infrared Spectrometer) data analysis.
•Ion irradiation causes exponential darkening, reddening, and flattening of Mercury analogue spectra.•MIR features like the Christiansen feature and Reststrahlen bands are shifted due to ion irradiation.•The spectral alteration is influenced by the composition and will participate in the origin of spectral heterogeneities.•After a certain irradiation dose spectral differences among units on Mercury may be limited by the saturation of the surface.
Proposals aimed at measuring the electric dipole moment (EDM) for charged particles in storage rings require a good understanding of the systematic errors that can contribute to a vertical spin ...buildup mimicking the EDM signal to be detected. In what follows, a method of averaging emanating from the Bogoliubov-Krylov-Mitropolski method is employed to solve the Thomas-Bargmann-Michel-Telegdi equation and calculate the Berry phases arising for the storage ring frozen spin concept. The formalism employed proved to be particularly useful to determine the evolution of the spin at the observation point, i.e., at the location of the polarimeter. Several selected cases of lattice imperfections were simulated and benchmarked with the analytical estimates. This allowed the proof of the convergence of the numerical simulations and helped gain better understanding of the systematic errors.
BepiColombo has a larger and in many ways more capable suite of instruments relevant for determination of the topographic, physical, chemical and mineralogical properties of Mercury’s surface than ...the suite carried by NASA’s MESSENGER spacecraft. Moreover, BepiColombo’s data rate is substantially higher. This equips it to confirm, elaborate upon, and go beyond many of MESSENGER’s remarkable achievements. Furthermore, the geometry of BepiColombo’s orbital science campaign, beginning in 2026, will enable it to make uniformly resolved observations of both northern and southern hemispheres. This will offer more detailed and complete imaging and topographic mapping, element mapping with better sensitivity and improved spatial resolution, and totally new mineralogical mapping.
We discuss MESSENGER data in the context of preparing for BepiColombo, and describe the contributions that we expect BepiColombo to make towards increased knowledge and understanding of Mercury’s surface and its composition. Much current work, including analysis of analogue materials, is directed towards better preparing ourselves to understand what BepiColombo might reveal. Some of MESSENGER’s more remarkable observations were obtained under unique or extreme conditions. BepiColombo should be able to confirm the validity of these observations and reveal the extent to which they are representative of the planet as a whole. It will also make new observations to clarify geological processes governing and reflecting crustal origin and evolution.
We anticipate that the insights gained into Mercury’s geological history and its current space weathering environment will enable us to better understand the relationships of surface chemistry, morphologies and structures with the composition of crustal types, including the nature and mobility of volatile species. This will enable estimation of the composition of the mantle from which the crust was derived, and lead to tighter constraints on models for Mercury’s origin including the nature and original heliocentric distance of the material from which it formed.
Proton-nucleus (p+A) collisions have long been recognized as a crucial component of the physics program with nuclear beams at high energies, in particular for their reference role to interpret and ...understand nucleus-nucleus data as well as for their potential to elucidate the partonic structure of matter at low parton fractional momenta (small-x). Here, we summarize the main motivations that make a proton-nucleus run a decisive ingredient for a successful heavy-ion program at the Large Hadron Collider (LHC) and we present unique scientific opportunities arising from these collisions. We also review the status of ongoing discussions about operation plans for the p+A mode at the LHC.
Dielectric Barrier Discharge (DBD) can be used to produce a large volume of non-thermal plasma at atmospheric pressure. Such plasmas are sources of highly reactive species (radicals, ozone, atoms, ...ions and excited molecules). Due to its characteristics, the DBD plasma can be applied for the pretreatment of lignocellulosic materials, in order to extract lignin that prevents the access to remained fermentable sugars in the biomass. In this context, an alternative method for pretreatment of lignocellulosic material in an in-liquid DBD plasma reactor using non-contact electrodes, working with atmospheric air, has been proposed. After the pretreatment, the solids were washed and submitted to enzymatic hydrolysis with a commercial enzyme complex, at 10 FPU/g of pretreated biomass and 50 g/L solids concentration (dry basis), for 72 h. The release of fermentable sugars was measured, comparing the samples obtained with and without plasma treatment. The highest sugar release was achieved using the plasma-in-liquid pretreatment in a single step, with glucose and xylose yields of 51.3 and 38.5%, respectively, after enzymatic hydrolysis. Thus, an effective pretreatment was developed to be applied to biomass such as: corn cob, sugarcane bagasse, bamboo, eucalyptus, etc., in order to reduce the environmental impact and, at the same time, produce biofuels.
Graphic Abstract
In the lowlands of Central Asia, summer grown potato is increasingly affected by soil moisture deficit due to inadequate irrigation and high evaporative demand. Many farmers cannot apply irrigation ...schedules that fully respond to the water demand because of reduced water availability throughout the Aral Sea basin, caused by global warming, and the competing use of irrigation by the cotton crop. The effects of different irrigation regimes were evaluated on ten potato clones in the lowlands of Tashkent, Uzbekistan, during the summer cropping season (July–October) of three consecutive years (2008, 2009 and 2010). The applicability of a growth model to predict yield under the different water regimes was tested. Significant treatment and genotype effects on yield and yield components were observed. The significant correlation for tuber yield among treatments suggested that yield under water limitation was driven more by potential yield than water restriction tolerance. Tuber yield was more associated to tuber weight than to tuber number, a component already largely determined when the different water treatments were initiated. The reduction of water supply after tuberization had a limited effect on yield and consequently drastically enhanced water use efficiency. It increased starch and dry matter content, but decreased vitamin C content. Some clones maintained high yield across years and treatments and appeared as good candidates for being recommended to farmers. Others showed interesting quality traits and are proposed for use as progenitors in breeding programs targeting at the improvement of the nutritional value of potato. A good prediction of yield was obtained using the growth model except for year 2009 when trials were heavily affected by weed infestation. The present study contributes to the improvement of water management and the identification of clones with high tuber yield and quality for the lowlands of Tashkent. Additional experiments are required to address the constraints to potato cultivation in other agro-climatic zones of Central Asia.
The MAJIS (Moons And Jupiter Imaging Spectrometer) instrument on board the ESA JUICE (JUpiter ICy moon Explorer) mission is an imaging spectrometer operating in the visible and near-infrared spectral ...range from 0.50 to 5.55 μm in two spectral channels with a boundary at 2.3 μm and spectral samplings for the VISNIR and IR channels better than 4 nm/band and 7 nm/band, respectively. The IFOV is 150 μrad over a total of 400 pixels. As already amply demonstrated by the past and present operative planetary space missions, an imaging spectrometer of this type can span a wide range of scientific objectives, from the surface through the atmosphere and exosphere. MAJIS is then perfectly suitable for a comprehensive study of the icy satellites, with particular emphasis on Ganymede, the Jupiter atmosphere, including its aurorae and the spectral characterization of the whole Jupiter system, including the ring system, small inner moons, and targets of opportunity whenever feasible. The accurate measurement of radiance from the different targets, in some case particularly faint due to strong absorption features, requires a very sensitive cryogenic instrument operating in a severe radiation environment. In this respect MAJIS is the state-of-the-art imaging spectrometer devoted to these objectives in the outer Solar System and its passive cooling system without cryocoolers makes it potentially robust for a long-life mission as JUICE is. In this paper we report the scientific objectives, discuss the design of the instrument including its complex on-board pipeline, highlight the achieved performance, and address the observation plan with the relevant instrument modes.
•Reflectance spectra of synthetic glasses of basic igneous compositions are measured.•Optical constants are retrieved by Hapke modeling from the measured spectra.•Particle sizes are estimated using ...the optical constants to fit measured spectra.
Silicate glasses with igneous compositions can be an important constituent of planetary surface material via effusive volcanism or impact cratering processes. Different planetary surfaces are mapped with hyper-spectrometers in the VNIR, and in this spectral range crystal field absorptions are useful in discriminating iron bearing silicate components. For these reasons studying glassy materials, and their optical constants, is an important effort to better document and understand spectral features of Solar System silicate crusts where glasses are present, but may be difficult to map. In our work we present a set of four different synthetic glasses, produced under terrestrial conditions, with variable composition and in particular an increasing amount of iron. The VNIR spectra show, for all the compositions, two absorptions are present near 1.1 and 1.9μm but reflectance, slope and absorption shape varies with composition. We measured the reflectance of different particle sizes of the samples and used radiative transfer models to estimate the optical constants as a function of wavelength. We used the retrieved optical constants to estimate the particle size from the measured reflectances and the results fall within the known sieve range. We qualitatively discuss the effect of the shape and distribution of particles on the application of the model.
Pre-clinical studies have shown that injection of allogeneic T cells primed against a single minor histocompatibility antigen (MiHA) could cure hematologic cancers (HC) without causing any toxicity ...to the host. However, translation of this approach in humans has been hampered by the paucity of molecularly defined human MiHAs. Using a novel proteogenomic approach, we have analyzed cells from 13 volunteers and discovered a vast repertoire of MiHAs presented by the most common HLA haplotype in European Americans: HLA-A*02:01;B*44:03. Notably, out of >6000 MiHAs, we have identified a set of 39 MiHAs that share optimal features for immunotherapy of HCs. These 'optimal MiHAs' are coded by common alleles of genes that are preferentially expressed in hematopoietic cells. Bioinformatic modeling based on MiHA allelic frequencies showed that the 39 optimal MiHAs would enable MiHA-targeted immunotherapy of practically all HLA-A*02:01;B*44:03 patients. Further extension of this strategy to a few additional HLA haplotypes would allow treatment of almost all patients.
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