Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

Landing in basal frogs: evidence of saltational patterns in the evolution of anuran locomotion

All frogs are assumed to jump in a similar manner by rapidly extending hindlimbs during the propulsive phase and rotating the limbs forward during flight in order to land forelimbs first. However, studies of jumping behavior are lacking in the most primitive living frogs of the family Leiopelmatidae. These semi-aquatic or terrestrial anurans retain a suite of plesiomorphic morphological features and are unique in using an asynchronous (trot-like) rather than synchronous “frog-kick” swimming gait of other frogs. We compared jumping behavior in leiopelmatids to more derived frogs and found that leiopelmatids maintain extended hindlimbs throughout flight and landing phases and do not land on adducted forelimbs. These “belly-flop” landings limit the ability for repeated jumps and are consistent with a riparian origin of jumping in frogs. The unique behavior of leiopelmatids shows that frogs evolved jumping before they perfected landing. Moreover, an inability to rapidly cycle the limbs may provide a functional explanation for the absence of synchronous swimming in leiopelmatids.     

CAREAIR: A Computer Aided Modeling Toolbox to Generate and Analyze Emission Data in High Temporal and Spatial Resolution

ABSTRACT

For the evaluation of air quality improvement strategies, emission data in high temporal and spatial resolution is necessary, including all emission sources and all relevant pollutant species. Computer aided models are usually used to generate this emission data because it is not possible to obtain measurements from all sources, and, furthermore, a large amount of data has to be handled. For the development of emission modeling systems, a software tool called CAREAIR has been created. The intention of this paper is to introduce CAREAIR to the international community dealing with emission inventories and air quality improvement strategies.

CAREAIR is not just a single emission model but a flexible modeling toolbox. The database contains data and formulas for data manipulation, which is performed by using a set of flexible operators with different specifications. The emission calculation is carried out by combining several data manipulation operators. The CAREAIR modeling toolbox allows model implementation for the calculation of emissions from different pollutants in a high spatial and temporal resolution. The application of CAREAIR within various investigation projects in Germany, Europe, and Nigeria shows that CAREAIR is an appropriate instrument for the development of flexible emission models by meeting the various demands of these projects. The function and the data structures of this modeling toolbox are described and, towards the end of the paper, an example of an emission calculation with CAREAIR is given.     

Photoreactivity of humic substances: relationship between fluorescence and singlet oxygen production

Humic substances are natural compounds abundantly present in the environment. They play a significant role in the natural attenuation of pollution in surface water due to their capacity to generate reactive species upon solar light excitation. Finding physico chemical parameters related to this property would be of a great help in the prediction studies of the organic pollutants fate. In this work, we investigated relationships between the ability of the humic substances to produce singlet oxygen and their fluorescence properties. For this, a series of sixteen humic acids, fulvic acids, and water-extractable organic matter from soils were studied. The steady-state singlet oxygen concentrations in the irradiated humic substances solutions were measured by monitoring the loss of furfuryl alcohol added as a singlet oxygen scavenger. The emission spectra of the sixteen samples were also recorded. Values of the steady-state singlet oxygen concentrations and the emission intensities showed significant variations among the humic samples and a parallel increase. Thus, here we demonstrate that the rate of singlet oxygen production and the emission intensity of the humic samples are correlated, the best correlation being obtained for emission wavelengths between 500 and 580 nm. This correlation which was never reported until now can be used to estimate the singlet oxygen-production capacity of the humic substances based on their fluorescent properties.