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01 juni 2023, Contains fulltext : 293778.pdf (Publisher’s version ) (Open Access), Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates of exome sequencing, it results in the detection of causative sequence variants in 'only' 25-30% of cases. Copy number variants (CNVs), i.e. deletion or duplications, explain 10-20% of individuals with multisystemic phenotypes, such as co-existing intellectual disability, but may also have a role in disorders affecting a single system (organ), like neurological disorders with normal intelligence. In this study, CNVs were extracted from clinical exome sequencing reports of 4800 probands primarily with a movement disorder, myopathy or neuropathy. In 88 (~2%) probands, phenotype-matching CNVs were detected, representing ~7% of genetically confirmed cases. CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele. CNVs were detected affecting genes where deletions or duplications are established as a common mechanism, like PRKN (in Parkinson's disease), DMD (in Duchenne muscular dystrophy) and PMP22 (in neuropathies), but also genes in which no intragenic CNVs have been reported to date. Analysis of CNVs as part of panel-based exome sequencing for genetically heterogeneous neurological diseases provides an additional diagnostic yield of ~2% without extra laboratory costs. Therefore it is recommended to perform CNV analysis for movement disorders, muscle disease, neuropathies, or any other single-system disorder.

Leven in harmonie met de natuur betekent meer biodiversiteit, meer zuurstof en minder stikstof en fijnstof. Dit resulteert in minder verdroging en een koelere stad in de zomer. Dat is vervolgens weer goed voor vermindering van het energieverbruik. Helaas komen lange periodes van droogte steeds vaker voor. Ook blijkt dat binnensteden en bedrijventerreinen soms wel bijna 10 graden warmer zijn dan het buitengebied. Dat gaat ten koste van de leefbaarheid. We zullen dus een balans moeten zoeken!

We hebben steeds vaker te maken met extreme weersomstandigheden. De maatschappelijke opgave om steden leefbaar te houden, betekent dan ook dat we deze moeten aanpassen aan het veranderende klimaat. Een manier om dat te doen, is met groen. Het werkt verkoelend, vermindert wateroverlast en verhoogt daarnaast de infiltratiecapaciteit, wat ook droogte tegengaat.

Tropical wet forests are complex ecosystems with a large number of plant species. These environments are characterized by a high water availability throughout the whole year and a complex canopy structure. However, how the different sections of the canopy contribute to total evaporation is poorly understood. The aim of this work is to estimate the total evaporation flux and differentiate the contribution among canopy layers of a tropical wet forest in Costa Rica. The fluxes were monitored during the dry season by making use of the energy balance to quantify the fluxes and stable water isotopes to trace the sources of water vapor. Total evaporation was 275.5 mm and represents 55.9 % of the recorded precipitation (498.8 mm), with 11.7 % of the precipitation being intercepted and evaporated along the forest canopy. The understory beneath 8 m contributed 23.6 % of the evaporation, and almost half of it comes from the first 2 m of the understory. Stable water isotope signatures show different soil water sources depending on the plant type. Palms make use of a water source with an isotope signature similar to precipitation and throughfall. Soil water with a fractionated signature is used by trees, bushes and lianas. The isotope signature of water vapor samples overlap among different heights, but it was not possible to make use of the Keeling plot method due to the similar isotope signature of the possible sources of water vapor as well as the high water concentration even on the dryer days.

The interception of precipitation by vegetation has important consequences for climate and water resources. Although canopy interception has been studied for centuries, many fundamental unknowns remain. We present persistent questions that reflect challenges in measuring, representing, and understanding how terrestrial ecosystems intercept, partition, and transport precipitation—down to soils or back to the atmosphere. In summary of this book, we outline future needs and simultaneously provide a primer for those interested in precipitation interception processes.

The implementation of afforestation programs in arid environments in northern China had modified the natural vegetation patterns. This increases the evaporation flux; however, the influence of these new covers on the soil water conditions is poorly understood. This work aims to describe the effect of Willow bushes (Salix psammophila C. Wang and Chang Y. Yang) and Willow trees (Salix matsudana Koidz.) on the soil water conditions after the summer. Two experimental plots located in the Hailiutu catchment (Shaanxi province, northwest China), and covered with plants of each species, were monitored during Autumn in 2010. The monitoring included the soil moisture, fine root distribution and transpiration fluxes that provided information about water availability, access and use by the plants. Meanwhile, the monitoring of stable water isotopes collected from precipitation, soil water, groundwater and xylem water linked the water paths. The presence of Willow trees and Willow bushes reduce the effect of soil evaporation after summer, increasing the soil moisture respect to bare soil conditions. Also, the presence of soil water with stable water isotope signatures close to groundwater reflect the hydraulic lift process. This is an indication of soil water redistribution carried out by both plant species.

This essay is the report of a study carried out to determine the influence of factors in the organizational context on organizational learning processes. On the basis of this influence it is also determined how an organization can optimally facilitate learning processes by means of these factors, which results in ideal types. After the exploration of various paradigms and approaches towards learning in organizations, an actual and usable point of view is taken from which this research departs. The characteristics of organizational learning processes, within this taken perspective, are formulated and the following relevant factors of context are indicated: organizational structure, organizational culture, vision and management style. A fifth element is also introduced: knowledge facilitation. This element has a different level of abstraction than the four mentioned factors, but can nevertheless be approached in a similar fashion. In this research it is presupposed that learning processes and (supporting) knowledge processes are closely related, but can be facilitated separately. On the basis of this frame, the various influences of the factors of context are described along with the influence of knowledge facilitation on learning processes. This theoretical research then results in five ideal types. These ideal types subsequently form a frame of reference for the case study. The extent to which the organization of this case study, Consent, facilitates learning processes, is evaluated, mainly with the help of a survey, by confronting the organization with the theoretical ideal types. The outcomes of the evaluation are presented per factor. The chapter following the description of outcomes contains the assessment of the outcomes and the recommendations that can be given to Consent considering the evaluation. Finally the theory, the study and the used methods of research are reflected upon and suggestions for future research are made.

A system of two exchange-coupled Kondo impurities in a magnetic field gives rise to a rich phase space hosting a multitude of correlated phenomena. Magnetic atoms on surfaces probed through scanning tunnelling microscopy provide an excellent platform to investigate coupled impurities, but typical high Kondo temperatures prevent field-dependent studies from being performed, rendering large parts of the phase space inaccessible. We present a study of pairs of Co atoms on insulating Cu2N/Cu(100), which each have a Kondo temperature of only 2.6?K. The pairs are designed to have interaction strengths similar to the Kondo temperature. By applying a sufficiently strong magnetic field, we are able to access a new phase in which the two coupled impurities are simultaneously screened. Comparison of differential conductance spectra taken on the atoms to simulated curves, calculated using a third-order transport model, allows us to independently determine the degree of Kondo screening in each phase., QN/Quantum Nanoscience, Applied Sciences