Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly,arthrogryposis and structural brain anomalies

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.     

The structure of gallery networks in the nests of termite <Emphasis Type="Italic">Cubitermes</Emphasis> spp. revealed by X-ray tomography

Recent studies have introduced computer tomography (CT) as a tool for the visualisation and characterisation of insect architectures. Here, we use CT to map the three-dimensional networks of galleries inside Cubitermes nests in order to analyse them with tools from graph theory. The structure of these networks indicates that connections inside the nest are rearranged during the whole nest life. The functional analysis reveals that the final network topology represents an excellent compromise between efficient connectivity inside the nest and defence against attacking predators. We further discuss and illustrate the usefulness of CT to disentangle environmental and specific influences on nest architecture.     

Inhibition of rhythmic neural spiking by noise: the occurrence of a minimum in activity with increasing noise

The effects of noise on neuronal dynamical systems are of much current interest. Here, we investigate noise-induced changes in the rhythmic firing activity of single Hodgkin–Huxley neurons. With additive input current, there is, in the absence of noise, a critical mean value μ = μ _c above which sustained periodic firing occurs. With initial conditions as resting values, for a range of values of the mean μ near the critical value, we have found that the firing rate is greatly reduced by noise, even of quite small amplitudes. Furthermore, the firing rate may undergo a pronounced minimum as the noise increases. This behavior has the opposite character to stochastic resonance and coherence resonance. We found that these phenomena occurred even when the initial conditions were chosen randomly or when the noise was switched on at a random time, indicating the robustness of the results. We also examined the effects of conductance-based noise on Hodgkin–Huxley neurons and obtained similar results, leading to the conclusion that the phenomena occur across a wide range of neuronal dynamical systems. Further, these phenomena will occur in diverse applications where a stable limit cycle coexists with a stable focus.     

A new test of random walks in heterogeneous environments

Environmental heterogeneities can change animal movement in two different manners. First, they can modify movement characteristics (move lengths or turning angles), in which case the movement remains of the diffusive kind. Second, they can bias displacement towards a particular direction in which case it becomes non-diffusive. We propose in this paper a simple method that only requires computing the mean length of a sample of trajectories in some bounded area to distinguish between these two kinds of movement. We show through simulations that the method allows to detect the presence of heterogeneities that orient animal movement. We apply it to experimental trajectories of Messor sancta ants engaged in corpse aggregation to show that their displacement is oriented at the contact of the formed corpse piles and that their trajectories become non-diffusive.     

Die Verbrennung von Äthylen und Acetylen

The Science of Nature -     

Oxygen tolerance capacity of upflow anaerobic solid-state (UASS) with anaerobic filter (AF) system

In order to investigate the oxygen tolerance capacity of upflow anaerobic solid-state(UASS)with anaerobic filter(AF) system, the effect of microaeration on thermophilic anaerobic digestion of maize straw was investigated under batch conditions and in the UASS with AF system. Aeration intensities of 0–431 m L O2/gvswere conducted as pretreatment under batch conditions. Aeration pretreatment obviously enhanced anaerobic digestion and an aeration intensity of 431 m L O2/gvsincreased the methane yield by 82.2%. Aeration intensities of 0–355 m L O2/gvswere conducted in the process liquor circulation of the UASS with AF system. Dissolved oxygen(DO) of UASS and AF reactors kept around 1.39 ±0.27 and 0.99 ± 0.38 mg/L, respectively. p H was relatively stable around 7.11 ± 0.04. Volatile fatty acids and soluble chemical oxygen demand concentration in UASS reactor were higher than those in AF reactor. Methane yield of the whole system was almost stable at 85 ± 7 m L/gvs as aeration intensity increased step by step. The UASS with AF system showed good oxygen tolerance capacity.