A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype

High-order harmonic spectroscopy for molecular imaging of polyatomic molecules

High-order harmonic generation is a powerful and sensitive tool for probing atomic and molecular structures, combining in the same measurement an unprecedented attosecond temporal resolution with a high spatial resolution, of the order of the angstrom. Imaging of the outermost molecular orbital by high-order harmonic generation has been limited for a long time to very simple molecules, like nitrogen. Recently we demonstrated a technique that overcame several of the issues that have prevented the extension of molecular orbital tomography to more complex species, showing that molecular imaging can be applied to a triatomic molecule like carbon dioxide. Here we report on the application of such technique to nitrous oxide (N2O) and acetylene (C2H2). This result represents a first step towards the imaging of fragile compounds, a category which includes most of the fundamental biological molecules

New white dwarfs in the Hyades --Results from kinematic and photometric studies

On the basis of the PPMXL catalogue (R\"oser, Demleitner & Schilbach, 2010) we searched for white dwarfs that are also member candidates of the Hyades in a region up to 40 pc from the cluster centre. We use the proper motions from PPMXL in the convergent point method to determine probable kinematic members. We cross-match the kinematic candidates with catalogues containing white dwarfs and, finally, check the kinematic with the photometric distances for consistency. We find the 10 classical white dwarfs in the Hyades and determine their individual kinematic distances. Additionally, we identified 17 new probable (former) Hyades white dwarfs, i.e. white dwarfs co-moving with the bulk space motion of the Hyades cluster. At present, none of them can be excluded from membership on the basis of the measured radial velocities. For another 10 objects, the kinematic and the photometric distances are discordant which rates them as probable non-members. Among the probable members, five white dwarfs are in binary systems, three are known, two are new. There is good indication for an empirical magnitude-distance (from centre) relation, such that the dimmer white dwarfs are farther away from the cluster centre than the brighter ones. Our sample is getting incomplete close behind the centre of the cluster. Follow-up observations are encouraged to independently confirm the predicted radial velocities and the distances of the candidates.Comment: 10 pages, 4 figures. Astronomy & Astrophysics (accepted

The potential for adoption of climate smart agricultural practices in Sub-Saharan livestock systems

Livestock systems play an important role in the livelihoods of many rural communities in Sub-Saharan Africa while being responsible for an important share of human-induced greenhouse gas emissions. This study aimed to evaluate the potential for adoption of climate smart agricultural practices in Sub-Saharan livestock systems, related to the improvement in feed, animal husbandry, and grassland management. These practices present productivity and mitigation benefits and in some cases may also contribute to enhance resilience. In this study, we used a data set of 1538 farm households across nine Sub-Saharan countries. A mixed logit model was used to assess the influence on adoption and to estimate the probability of adoption. Our results show that there seems to be stronger influence of physical and financial capitals on adoption than the other capitals. Different types of capitals influence the uptake of different agricultural practices. Yet the probability of adoption would change across countries. The results of this study could help to refine adoption estimates calculated through global or regional modelling approaches and to inform the design of policies to better target investments in order to foster adoption

Drug design and synthesis of first in class PDZ1 targeting NHERF1 inhibitors as anticancer agents

Targeted approaches aiming at modulating NHERF1 activity, rather than its overall expression, would be preferred to preserve the normal functions of this versatile protein. We focused our attention on the NHERF1/PDZ1 domain that governs its membrane recruitment/displacement through a transient phosphorylation switch. We herein report the design and synthesis of novel NHERF1 PDZ1 domain inhibitors. These compounds have potential therapeutic value when used in combination with antagonists of β-catenin to augment apoptotic death of colorectal cancer cells refractory to currently available Wnt/β-catenin-targeted agents

A study of the perceived risks, benefits and barriers to the use of SDD in adult critical care units (the SuDDICU study)

Peer reviewedPublisher PD