Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport or degradation of neurotransmitters or co-factors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter (DAT) deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders, and b) previously underreported behavioral traits

Experimental modeling of weld thermal cycle of the heat affected zone (HAZ)

Contribution deals with experimental modeling of quick thermal cycles of metal specimens. In the introduction of contribution will be presented measured graphs of thermal cycle of heat affected zone (HAZ) of weld. Next will be presented experimental simulation of measured thermal cycle on the standard specimens, useable for material testing. This approach makes possible to create material structures of heat affected zone of weld, big enough for standard material testing

Improved phosphorus fertilisation efficiency of wood ash by fungal strains<em> Penicillium</em> sp. PK112 and <em>Trichoderma harzianum</em> OMG08 on acidic soil

International audienceEffective recycling of phosphorus (P) remains a critical issue in sustainable agriculture. Wood ash represents valuable soil amendment and potential source of P for agriculture, but its solubility and subsequent P-fertilisation efficiency is extremely low. This study tested fungal inoculants (Penicillium sp. PK112 and Trichoderma harzianum OMG08) applied alone and in combination with wood ash on P-limiting acidic soil to determine if they can improve P-nutrition in maize. Wood ash alone did not have any significant P-fertilising effect. Application of both inoculants, when combined with wood ash, led to significant increment of plant-available P content in soil, increased P uptake by maize plants and consequently to higher production of maize shoot biomass. Both inoculants suppressed overall microbial activity in soil as determined by the activity of dehydrogenase, alkaline phosphatase and microbial P content. Only T. harzianum led to higher activity of soil acid phosphatase. This study demonstrated that tested strains may be co-applied with wood ash to improve its Pfertilisation efficiency. The positive influence of inoculants on P availability was mainly due to stronger acidification of rhizosphere and decreased content of microbial P. However, both effects seemed to be hindered by the P sorption capacity of the soil in the case of inoculation without wood ash. Such findings may lead to development of novel formulations of recycled fertiliser products and boost nutrient recycling in agriculture

Evaluating boundary dependent errors in QM/MM simulations.

Hybrid quantum mechanics/molecular mechanics (QM/MM) simulations provide a powerful tool for studying chemical reactions, especially in complex biochemical systems. In most works to date, the quantum region is kept fixed throughout the simulation and is defined in an ad hoc way based on chemical intuition and available computational resources. The simulation errors associated with a given choice of the quantum region are, however, rarely assessed in a systematic manner. Here we study the dependence of two relevant quantities on the QM region size: the force error at the center of the QM region and the free energy of a proton transfer reaction. Taking lysozyme as our model system, we find that in an apolar region the average force error rapidly decreases with increasing QM region size. In contrast, the average force error at the polar active site is considerably higher, exhibits large oscillations and decreases more slowly, and may not fall below acceptable limits even for a quantum region radius of 9.0 A. Although computation of free energies could only be afforded until 6.0 A, results were found to change considerably within these limits. These errors demonstrate that the results of QM/MM calculations are heavily affected by the definition of the QM region (not only its size), and a convergence test is proposed to be a part of setting up QM/MM simulations