Reactive nitrogen fluxes over peatland and forest ecosystems using micrometeorological measurement techniques

Interactions of reactive nitrogen (Nr) compounds between the atmosphere and the earth's surface play a key role in atmospheric chemistry and in understanding nutrient cycling of terrestrial ecosystems. While continuous observations of inert greenhouse gases through micrometeorological flux measurements have become a common procedure, information about temporal dynamics and longer-term budgets of Nr compounds is still extremely limited. Within the framework of the research projects NITROSPHERE and FORESTFLUX, field campaigns were carried out to investigate the biosphere–atmosphere exchange of selected Nr compounds over different land surfaces. The aim of the campaigns was to test and establish novel measurement techniques in eddy-covariance setups for continuous determination of surface fluxes of ammonia (NH3) and total reactive nitrogen (ΣNr) using two different analytical devices. While high-frequency measurements of NH3 were conducted with a quantum cascade laser (QCL) absorption spectrometer, a custom-built converter called Total Reactive Atmospheric Nitrogen Converter (TRANC) connected and operated upstream of a chemiluminescence detector (CLD) was used for the measurement of ΣNr. As high-resolution data of Nr surface–atmosphere exchange are still scarce but highly desired for testing and validating local inferential and larger-scale models, we provide access to campaign data including concentrations, fluxes, and ancillary measurements of meteorological parameters. Campaigns (n=4) were carried out in natural (forest) and semi-natural (peatland) ecosystem types. The published datasets stress the importance of recent advancements in laser spectrometry and help improve our understanding of the temporal variability of surface–atmosphere exchange in different ecosystems, thereby providing validation opportunities for inferential models simulating the exchange of reactive nitrogen. The dataset has been placed in the Zenodo repository (https://doi.org/10.5281/zenodo.4513854; Brümmer et al., 2022) and contains individual data files for each campaign

Gas chromatography vs. quantum cascade laser-based N₂O flux measurements using a novel chamber design

Recent advances in laser spectrometry offer new opportunities to investigate the soil–atmosphere exchange of nitrous oxide. During two field campaigns conducted at a grassland site and a willow field, we tested the performance of a quantum cascade laser (QCL) connected to a newly developed automated chamber system against a conventional gas chromatography (GC) approach using the same chambers plus an automated gas sampling unit with septum capped vials and subsequent laboratory GC analysis. Through its high precision and time resolution, data of the QCL system were used for quantifying the commonly observed nonlinearity in concentration changes during chamber deployment, making the calculation of exchange fluxes more accurate by the application of exponential models. As expected, the curvature values in the concentration increase was higher during long (60 min) chamber closure times and under high-flux conditions (FN2O > 150 µg N m−2 h−1) than those values that were found when chambers were closed for only 10 min and/or when fluxes were in a typical range of 2 to 50 µg N m−2 h−1. Extremely low standard errors of fluxes, i.e., from  ∼  0.2 to 1.7 % of the flux value, were observed regardless of linear or exponential flux calculation when using QCL data. Thus, we recommend reducing chamber closure times to a maximum of 10 min when a fast-response analyzer is available and this type of chamber system is used to keep soil disturbance low and conditions around the chamber plot as natural as possible. Further, applying linear regression to a 3 min data window with rejecting the first 2 min after closure and a sampling time of every 5 s proved to be sufficient for robust flux determination while ensuring that standard errors of N2O fluxes were still on a relatively low level. Despite low signal-to-noise ratios, GC was still found to be a useful method to determine the mean the soil–atmosphere exchange of N2O on longer timescales during specific campaigns. Intriguingly, the consistency between GC and QCL-based campaign averages was better under low than under high N2O efflux conditions, although single flux values were highly scattered during the low efflux campaign. Furthermore, the QCL technology provides a useful tool to accurately investigate the highly debated topic of diurnal courses of N2O fluxes and its controlling factors. Our new chamber design protects the measurement spot from unintended shading and minimizes disturbance of throughfall, thereby complying with high quality requirements of long-term observation studies and research infrastructures

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Background: Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment. Methods: Eighteen patients with ASD carrying apparently balanced chromosomal abnormalities were screened using single nucleotide polymorphism (SNP) arrays. Nine rearrangements were de novo, seven inherited, and two of unknown inheritance. Genomic imbalances were confirmed by fluorescence in situ hybridization and quantitative PCR. Results: We detected clinically significant de novo copy number variants in four patients (22%), including three with de novo rearrangements and one with an inherited abnormality. The sizes ranged from 3.3 to 4.9 Mb; three were related to the breakpoint regions and one occurred elsewhere. We report a patient with a duplication of the Wolf-Hirschhorn syndrome critical region, contributing to the delineation of this rare genomic disorder. The patient has a chromosome 4p inverted duplication deletion, with a 0.5 Mb deletion of terminal 4p and a 4.2 Mb duplication of 4p16.2p16.3. The other cases included an apparently balanced de novo translocation t(5;18)(q12;p11.2) with a 4.2 Mb deletion at the 18p breakpoint, a subject with de novo pericentric inversion inv(11)(p14q23.2) in whom the array revealed a de novo 4.9 Mb deletion in 7q21.3q22.1, and a patient with a maternal inv(2)(q14.2q37.3) with a de novo 3.3 Mb terminal 2q deletion and a 4.2 Mb duplication at the proximal breakpoint. In addition, we identified a rare de novo deletion of unknown significance on a chromosome unrelated to the initial rearrangement, disrupting a single gene, RFX3. Conclusions: These findings underscore the utility of SNP arrays for investigating apparently balanced chromosomal abnormalities in subjects with ASD or related neurodevelopmental disorders in both clinical and research settings

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

International audienceBACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA). RESULTS: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy. CONCLUSIONS: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening

Livestock grazing and biodiversity : effects on CO2 exchange in semi-arid Karoo ecosystems, South Africa

DATA AVAILABILITY : Data used in this study can be obtained upon request and will be made available through the FLUXNET database.Livestock use in semi-arid South African ecosystems has not been extensively studied in relation to the Net Ecosystem Exchange (NEE) of carbon dioxide (CO2). We present four years of measurements from twinned eddy-covariance towers in Nama-Karoo, South Africa, to investigate the carbon fluxes and the impact of grazing intensity on NEE. The design contrasted NEE at a long-term site grazed at recommended levels (LG) with a long-term heavily grazed (EG) site that had been rested for 10 years, and was monitored for two years after which intensive grazing was reintroduced for this experiment. This allowed for the quantification of long-term NEE trends on “recovering” vegetations (years I, II) and short-term responses to an intensified land use (years III, IV). The results showed that the net release of CO2 was slightly higher at LG than on “recovering” vegetation at the EG site, where near-neutral exchange was observed during years I and II. However, after grazing was reintroduced to the EG site, differences between sites was reduced but not eliminated. These findings suggest that there is a somewhat higher carbon sequestration potential at the resting EG site than at the LG site, apparently associated with the dominance of unpalatable drought-tolerant grass species and local elimination of many palatable shrubs. Reduction of this sink potential by reintroduction of high-intensity grazing indicates the sensitivity of C-sequestration in this “recovering” system to heavy grazing, but underlines continued resilience of NEE under far heavier grazing than in the LG system. These data suggest notable trade-offs in these ecosystems between carbon storage, biodiversity, and livestock production with rainfall variability being a critical inter-annual driver.This study suggests that long-term resting of previously over-utilized southern African semi-arid vegetation supports enhanced carbon sequestration potential, even if over-utilization has transformed vegetation composition (i.e. has caused degradation through reduced plant species richness). However, this enhanced carbon sequestration potential can be quickly negated by the reintroduction of grazing, even after 10 years of resting. Achievement of carbon sequestration is dependent on average to above-average precipitation and its distribution throughout the year, with sink activity evident mainly after seasonal rains during the warm season.he German Federal Ministry of Education and Research (BMBF), research programs SPACES and SPACES II (Science Partnerships for the Assessment of Complex Earth System Processes in Southern Africa), projects ARS AfricaE and EMSAfrica.https://www.elsevier.com/locate/scitotenvhj2024Geography, Geoinformatics and MeteorologySDG-15:Life on lan

Electrophysiological evidence for an early processing of human voices

<p>Abstract</p> <p>Background</p> <p>Previous electrophysiological studies have identified a "voice specific response" (VSR) peaking around 320 ms after stimulus onset, a latency markedly longer than the 70 ms needed to discriminate living from non-living sound sources and the 150 ms to 200 ms needed for the processing of voice paralinguistic qualities. In the present study, we investigated whether an early electrophysiological difference between voice and non-voice stimuli could be observed.</p> <p>Results</p> <p>ERPs were recorded from 32 healthy volunteers who listened to 200 ms long stimuli from three sound categories - voices, bird songs and environmental sounds - whilst performing a pure-tone detection task. ERP analyses revealed voice/non-voice amplitude differences emerging as early as 164 ms post stimulus onset and peaking around 200 ms on fronto-temporal (positivity) and occipital (negativity) electrodes.</p> <p>Conclusion</p> <p>Our electrophysiological results suggest a rapid brain discrimination of sounds of voice, termed the "fronto-temporal positivity to voices" (FTPV), at latencies comparable to the well-known face-preferential N170.</p

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

PURPOSE: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI. METHODS: From two cohorts totaling 71 patients with pigmentary mosaicism, we identified 14 patients with Blaschko-linear and one with flag-like pigmentation abnormalities, psychomotor impairment or seizures, and a postzygotic MTOR variant in skin. Patient records, including brain magnetic resonance image (MRI) were reviewed. Immunostaining (n = 3) for melanocyte markers and ultrastructural studies (n = 2) were performed on skin biopsies. RESULTS: MTOR variants were present in skin, but absent from blood in half of cases. In a patient (p.[Glu2419Lys] variant), phosphorylation of p70S6K was constitutively increased. In hypopigmented skin of two patients, we found a decrease in stage 4 melanosomes in melanocytes and keratinocytes. Most patients (80%) had macrocephaly or (hemi)megalencephaly on MRI. CONCLUSION: MTOR-related HI is a recognizable neurocutaneous phenotype of patterned dyspigmentation, epilepsy, intellectual deficiency, and brain overgrowth, and a distinct subtype of hypomelanosis related to somatic mosaicism. Hypopigmentation may be due to a defect in melanogenesis, through mTORC1 activation, similar to hypochromic patches in tuberous sclerosis complex

Extracellular vesicles generated by placental tissues ex vivo: A transport system for immune mediators and growth factors

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/144634/1/aji12860_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/144634/2/aji12860.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/144634/3/aji12860-sup-0001-Supinfo.pd