Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.

Background And Objectives: Hexokinase 1 (encoded by ) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals.

Methods: We investigated clinical phenotypes, brain MRIs, and the CSF of 15 previously unpublished individuals with monoallelic variants and an NDD phenotype.

[Sleep disorders in patients with chronic tinnitus].

Tinnitus has a lifetime prevalence of 25% in Germany. A common comorbidity in chronic cases are sleep disorders. The aims of this study were to detect sleep disorders and to identify possible associations with tinnitus parameters.

Mutation bias reflects natural selection in Arabidopsis thaliana.

Since the first half of the twentieth century, evolutionary theory has been dominated by the idea that mutations occur randomly with respect to their consequences. Here we test this assumption with large surveys of de novo mutations in the plant Arabidopsis thaliana. In contrast to expectations, we find that mutations occur less often in functionally constrained regions of the genome-mutation frequency is reduced by half inside gene bodies and by two-thirds in essential genes.

Pro-inflammatory activation changes intracellular transport of bevacizumab in the retinal pigment epithelium in vitro.

Purpose: Bevacizumab is taken up and transported through the retinal pigment epithelium. Inflammatory signaling may influence this interaction. In the present study, we have investigated the effect of pro-inflammatory stimuli on the uptake, intracellular localization, and transepithelial transport of bevacizumab.

Lung clearance index and diffusion capacity for CO to detect early functional pulmonary impairment in children with rheumatic diseases.

Background: In adults with rheumatic diseases pulmonary complications are relevant contributors to morbidity and mortality. In these patients diffusion capacity for CO (DLCO) is an established method to detect early pulmonary impairment. Pilot studies using DLCO indicate that early functional pulmonary impairment is present even in children with rheumatic disease albeit not detectable by spirometry and without clinical signs of pulmonary disease.

Effect of long-term inflammation on viability and function of RPE cells.

Purpose: Degenerative ocular disorders like age-related macular degeneration (AMD) are associated with long-term pro-inflammatory signals on retinal pigment epithelial (RPE) cells. In this study, we investigated the effect of long term treatment of RPE cells with agonists of toll-like receptor (TLR) -3 (Polyinosinic:polycytidylic acid, Poly I:C), TLR-4 (lipopolysaccharide, LPS) and the pro-inflammatory cytokine TNFα.

Methods: All tests were conducted with primary porcine RPE.

Multiple modes of convergent adaptation in the spread of glyphosate-resistant .

The selection pressure exerted by herbicides has led to the repeated evolution of herbicide resistance in weeds. The evolution of herbicide resistance on contemporary timescales in turn provides an outstanding opportunity to investigate key questions about the genetics of adaptation, in particular the relative importance of adaptation from new mutations, standing genetic variation, or geographic spread of adaptive alleles through gene flow. Glyphosate-resistant poses one of the most significant threats to crop yields in the Midwestern United States, with both agricultural populations and herbicide resistance only recently emerging in Canada.

Fine-Grained Analysis of Spontaneous Mutation Spectrum and Frequency in .

Mutations are the ultimate source of all genetic variation. However, few direct estimates of the contribution of mutation to molecular genetic variation are available. To address this issue, we first analyzed the rate and spectrum of mutations in the reference accession after 25 generations of single-seed descent.

Browning Potential of C-α-Dicarbonyl Compounds under Maillard Conditions.

In this work, the three major C-α-dicarbonyl compounds glucosone (GLUC), 1-deoxyglucosone (1-DG), and 3-deoxyglucosone (3-DG) were synthesized and examined under Maillard conditions (aqueous solutions with the addition of l-alanine at 130 °C and pH 5/8). For the first time, the resulting color formation, antioxidant activity, and generation of short-chained α-dicarbonyls were investigated and compared to incubations of d-glucose and d-fructose. An additive effect on the formation of color, an antagonistic effect on the generation of α-dicarbonyl compounds, and a synergistic effect on the antioxidant activity could be observed for the 1-DG/GLUC combination.

[Guideline for the Development of Evidence-based Patient Information: insights into the methods and implementation of evidence-based health information].

The "Guideline for the Development of Evidence-based Patient Information" project is a novelty. The aim of this project is to enhance the quality of health information. The development and implementation process is guided by national and international standards.

Reproductive biology of Onchocerca ochengi, a nodule forming filarial nematode in zebu cattle.

Onchocerca ochengi is a nodule-forming filarial nematode parasite of cattle in tropical Africa and closely related to the human pathogen Onchocerca volvulus. The adult worms reside in intradermal nodules. While females are sedentary, males may move between nodules.

Molecular evidence of 'Siisa form', a new genotype related to Onchocerca ochengi in cattle from North Cameroon.

Onchocerca ochengi, a filarial nematode parasite from African Zebu cattle is considered to be the closest relative of Onchocerca volvulus, the causative agent of river blindness. Both Onchocerca species share the vector, black flies of the Simulium damnosum complex. Correct identification of their infective third-stage larvae in man-biting vectors is crucial to distinguish the transmission of human or animal parasites.

Single worm genotyping demonstrates that Onchocerca ochengi females simultaneously produce progeny sired by different males.

Onchocerca ochengi is a filarial nematode parasite of African cattle and most closely related to Onchocerca volvulus, the causing agent of river blindness. O. ochengi females induce the formation of a nodule in the dermis of the host, in which they remain sedentary in very close association with the host's tissue.