Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2

Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling path- ways and gene expression in the pathogenesis of aortic aneurysms

Magneto-elastic coupling and unconventional magnetic ordering in triangular multiferroic AgCrS2

The temperature evolution of the crystal and magnetic structures of ferroelectric sulfide AgCrS2 have been investigated by means of neutron scattering. AgCrS2 undergoes at TN = 41.6 K a first-order phase transition, from a paramagnetic rhombohedral R3m to an antiferromagnetic monoclinic structure with a polar Cm space group. In addition to being ferroelectric below TN, the low temperature phase of AgCrS2 exhibits an unconventional collinear magnetic structure that can be described as double ferromagnetic stripes coupled antiferromagnetically, with the magnetic moment of Cr+3 oriented along b within the anisotropic triangular plane. The magnetic couplings stabilizing this structure are discussed using inelastic neutron scattering results. Ferroelectricity below TN in AgCrS2 can possibly be explained in terms of atomic displacements at the magneto-elastic induced structural distortion. These results contrast with the behavior of the parent frustrated antiferromagnet and spin-driven ferroelectric AgCrO2

Quantitative trait loci for sensitivity to ethanol intoxication in a C57BL/6J × 129S1/SvImJ inbred mouse cross

Individual variation in sensitivity to acute ethanol (EtOH) challenge is associated with alcohol drinking and is a predictor of alcohol abuse. Previous studies have shown that the C57BL/6J (B6) and 129S1/SvImJ (S1) inbred mouse strains differ in responses on certain measures of acute EtOH intoxication. To gain insight into genetic factors contributing to these differences, we performed quantitative trait locus (QTL) analysis of measures of EtOH-induced ataxia (accelerating rotarod), hypothermia, and loss of righting reflex (LORR) duration in a B6 × S1 F2 population. We confirmed that S1 showed greater EtOH-induced hypothermia (specifically at a high dose) and longer LORR compared to B6. QTL analysis revealed several additive and interacting loci for various phenotypes, as well as examples of genotype interactions with sex. QTLs for different EtOH phenotypes were largely non-overlapping, suggesting separable genetic influences on these behaviors. The most compelling main-effect QTLs were for hypothermia on chromosome 16 and for LORR on chromosomes 4 and 6. Several QTLs overlapped with loci repeatedly linked to EtOH drinking in previous mouse studies. The architecture of the traits we examined was complex but clearly amenable to dissection in future studies. Using integrative genomics strategies, plausible functional and positional candidates may be found. Uncovering candidate genes associated with variation in these phenotypes in this population could ultimately shed light on genetic factors underlying sensitivity to EtOH intoxication and risk for alcoholism in humans

SCHAUMFLOTATION

Zellabtrennung aus Fermentationsbrühen mit Zentrifugalseparatoren ist sehr energieaufwendig; deshalb wurde ein kontinuierliches Mikroflotationsverfahren für die Zellgewinnung entwickelt.Da die Proteine für die Schäumfähigkeit in Fermentationsbrühen in erster Linie verantwortlich sind, wurden zunächst Versuche mit Rinderserumalbumin gemacht. Auch Sekundärmetabolite wie z.B. Penicillin- G, die bei Fermentationen auftreten, konnten mit dieser Methode abgetrennt werden. Die Mikroflotation von Hansenula polymorpha wurde sowohl im Labormaßstab als auch im Technikumsmaßstab realisiert. Auch andere Mikroorganismen ließen sich mit dieser Methode abtrennen

Machine Learning Applications in Convective Turbulence

Turbulent convection flows are ubiquitous in natural systems such as in the atmosphere or in stellar interiors as well as in technological applications such as cooling or energy storage devices. Their physical complexity and vast number of degrees of freedom prevents often an access by direct numerical simulations that resolve all flow scales from the smallest to the largest plumes and vortices in the system and requires a simplified modelling of the flow itself and the resulting turbulent transport behaviour. The following article summarises some examples that aim at a reduction of the flow complexity and thus of the number of degrees of freedom of convective turbulence by machine learning approaches. We therefore apply unsupervised and supervised machine learning methods to direct numerical simulation data of a Rayleigh-Bénard convection flow which serves as a paradigm of the examples mentioned at the beginning