Tannin- caprolactam and Tannin- PEG formulations as outdoor wood preservatives: Biological Properties

Key Message: This article presents the enhancement in boron fixation as well as the improved biological resistance against fungi and termites for wood samples treated with tannin-caprolactam and tannin-PEG formulations. Context: Although the recently developed tannin-boron wood preservatives have shown high biological protection, they presented also average resistance against weathering. The tannin-caprolactam formulations have shown improved weathering resistances and dimensional stability. Aims: For this reason, more detailed biological tests were performed to evaluate the influence of the caprolactam and PEG on the biological resistance. Methods: In this paper, the boron leaching of the tannin-caprolactam and tannin-PEG impregnated Scots pine specimens was observed and the biocidal effect against fungi (Antrodia spp. and Coniophora puteana) and insects (Reticulitermes flavipes and Hylotrupes bajulus) were determined according to the guidelines of EN 113, EN 117, and EN 47. Results: The advanced formulations containing PEG have shown interesting resistance against fungal decay, but very low penetration and weak resistance against larvae while the tannin-caprolactam preservatives have shown overall improved biological performances and higher boron fixations. Conclusion: The biocidal activity of the caprolactam-added formulations was overall enhanced and therefore these formulations are confirmed to be an interesting alternative for the wood preservation in outdoor environment. (Résumé d'auteur

Tannin- caprolactam and Tannin- PEG formulations as outdoor wood preservatives: Weathering properties

International audienceAbstractKey messageThis article presents the leaching, fire and weathering resistance improvements of samples treated with tannin-based wood preservatives added of caprolactam. PEG-added formulations show limited applicability. The FT-IR and13C-NMR analyses of the caprolactam-added formulations show some evidences of copolymerization.ContextTannin-boron wood preservatives are known for their high resistance against leaching, biological attacks, fire as well as for the good mechanical properties that they impart to wood. These properties promoted these formulations for being a candidate for the protection of green buildings. However, the low elasticity of these polymers and their dark colour implied limited weathering resistances.AimsThe aim of the study is to find suitable additives for tannin-based formulations to overcome their limited weathering resistances, without compromising the other properties.MethodsTreatment, leaching and fire tests, dimensional stability as well as artificial and natural weathering of the timber treated with caprolactam-added and PEG-added formulations were performed. FT-IR and 13C-NMR of the formulations were presented.ResultsThe presence of caprolactam improved the properties of the formulation with particularly significant results in terms of resistance against leaching and dimensional stability. These enhancements were imparted also to the weathering resistance of the tannin-caprolactam formulations. Indeed, the colour changes during the artificial and natural exposures were stable for longer periods. FT-IR and 13C-NMR investigations of the advanced formulations were led, and covalent copolymerization of the caprolactam with the tannin-hexamine polymer was observed.ConclusionThe tannin formulations with caprolactam improved the durability of the wood specimens, while the PEG-tannin presented strong application drawbacks

Human impact on the transport of terrigenous and anthropogenic elements to peri-alpine lakes (Switzerland) over the last decades

Terrigenous (Sc, Fe, K, Mg, Al, Ti) and anthropogenic (Pb and Cu) element fluxes were measured in a new sediment core from Lake Biel (Switzerland) and in previously well-documented cores from two upstream lakes (Lake Brienz and Lake Thun). These three large peri-alpine lakes are connected by the Aare River, which is the main tributary to the High Rhine River. Major and trace element analysis of the sediment cores by inductively coupled plasma mass spectrometry (ICP-MS) shows that the site of Lake Brienz receives three times more terrigenous elements than the two other studied sites, given by the role of Lake Brienz as the first major sediment sink located in the foothills of the Alps. Overall, the terrigenous fluxes reconstructed at the three studied sites suggest that the construction of sediment-trapping reservoirs during the twentieth century noticeably decreased the riverine suspended sediment load at a regional scale. In fact, the extensive river damming that occurred in the upstream watershed catchment (between ca. 1930 and 1950 and up to 2300 m a.s.l.) and that significantly modified seasonal suspended sediment loads and riverine water discharge patterns to downstream lakes noticeably diminished the long-range transport of (fine) terrigenous particles by the Aare River. Concerning the transport of anthropogenic pollutants, the lowest lead enrichment factors (EFs Pb) were measured in the upstream course of the Aare River at the site of Lake Brienz, whereas the metal pollution was highest in downstream Lake Biel, with the maximum values measured between 1940 and 1970 (EF Pb >3). The following recorded regional reduction in aquatic Pb pollution started about 15 years before the actual introduction of unleaded gasoline in 1985. Furthermore, the radiometric dating of the sediment core from Lake Biel identifies three events of hydrological transport of artificial radionuclides released by the nuclear reactor of Mühleberg located at more than 15 km upstream of Lake Biel for the time period 1970 to 200

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function

White book on physical and rehabilitation medicine (PRM) in Europe. Chapter 10. Science and research in PRM: Specificities and challenges

In the context of the White Book of Physical and Rehabilitation Medicine (PRM), this paper deals with Research, the future of PRM. PRM students and specialists are mainly involved in biomedical research, investigating the biological processes, the causes of diseases, their medical diagnosis, the evaluation of their consequences on functioning, disability and health and the effects of health interventions at an individual and a societal level. Most of the current PRM research, often interdisciplinary, originates from applied research which, using existing knowledge, is directed towards specific goals. Translational medical research, research and development, implementation research and clinical impact research are in this field. PRM physicians, mainly master or PhD students, are nowadays increasing their participation in basic research and in pre-clinical trials. PRM physicians are involved in primary research, which is an original first hand research, but also in secondary research, which is the analysis and interpretation of primary research publications in a field, with a specific methodology. Secondary research remains an important activity of the UEMS PRM section and it will be the field of the new created Cochrane Rehabilitation. Secondary research with interest for persons with disabilities, will be developed world wide on the basis of evidence based medicine, with the participation of PRM physicians and of all other health and social professionals involved in rehabilitation. The development of research activities with interest for PRM in Europe is a challenge for the future, which has to be faced now. The European PRM schools, the European master and PhD program with their supporting research and clinical facilities, the European PRM organizations with their websites, the PRM scientific journals and European congresses are a strong basis to develop research activities, together with the development of Cochrane Rehabilitation field and of our cooperation with European high level research facilities, European and international scientific societies in different fields. PRM will be a leader in this field of research

Evaluation of preindustrial to present-day black carbon and its albedo forcing from ACCMIP (Atmospheric Chemistry and Climate Model Intercomparison Project)

As part of the Atmospheric Chemistry and Climate Model Intercomparison Project (ACCMIP), we evaluate the historical black carbon (BC) aerosols simulated by 8 ACCMIP models against observations including 12 ice core records, long-term surface mass concentrations and recent Arctic BC snowpack measurements. We also estimate BC albedo forcing by performing additional simulations using offline models with prescribed meteorology from 1996–2000. We evaluated the vertical profile of BC snow concentrations from these offline simulations using the recent BC snowpack measurements. Despite using the same BC emissions, the global BC burden differs by approximately a factor of 3 among models due to differences in aerosol removal parameterizations and simulated meteorology: 34 Gg to 103 Gg in 1850 and 82 Gg to 315 Gg in 2000. However, the global BC burden from preindustrial to present-day increases by 2.5–3 times with little variation among models, roughly matching the 2.5-fold increase in total BC emissions during the same period. We find a large divergence among models at both Northern Hemisphere (NH) and Southern Hemisphere (SH) high latitude regions for BC burden and at SH high latitude regions for deposition fluxes. The ACCMIP simulations match the observed BC surface mass concentrations well in Europe and North America except at Jungfraujoch and Ispra. However, the models fail to predict the Arctic BC seasonality due to severe underestimations during winter and spring. The simulated vertically resolved BC snow concentrations are, on average, within a factor of 2–3 of the BC snowpack measurements except for Greenland and the Arctic Ocean. For the ice core evaluation, models tend to capture both the observed temporal trends and the magnitudes well at Greenland sites. However, models fail to predict the decreasing trend of BC depositions/ice-core concentrations from the 1950s to the 1970s in most Tibetan Plateau ice cores. The distinct temporal trend at the Tibetan Plateau ice cores indicates a strong influence from Western Europe, but the modeled BC increases in that period are consistent with the emission changes in Eastern Europe, the Middle East, South and East Asia. At the Alps site, the simulated BC suggests a strong influence from Europe, which agrees with the Alps ice core observations. Models successfully simulate higher BC concentrations observed at Zuoqiupu during the non-monsoon season than monsoon season, but models underpredict BC in both seasons. Despite a large divergence in BC deposition at two Antarctic ice core sites, models are able to capture the relative increase from preindustrial to present-day seen in the ice cores. In 2000 relative to 1850, globally annually averaged BC surface albedo forcing from the offline simulations ranges from 0.014 to 0.019 W m−2 among the ACCMIP models. Comparing offline and online BC albedo forcings computed by some of the same models, we find that the global annual mean can vary by up to a factor of two because of different aerosol models or different BC-snow parameterizations and snow cover. The spatial distributions of the offline BC albedo forcing in 2000 show especially high BC forcing (i.e. over 0.1 W m−2) over Manchuria, Karakoram, and most of the Former USSR. Models predict the highest global annual mean BC forcing in 1980 rather than 2000, mostly driven by the high fossil fuel and biofuel emissions in the Former USSR in 1980

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specifically DYRK1A. Most of these patients have microcephaly and all have significant intellectual disability. In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain. We identified unique truncating and non-synonymous mutations (three nonsense, four frameshift and two missense) in DYRK1A in nine patients and a large chromosomal deletion that encompassed DYRK1A in one patient. On the basis of increasing identification of mutations in DYRK1A, we suggest that this gene be considered potentially causative in patients presenting with ID, primary or acquired microcephaly, feeding problems and absent or delayed speech with or without seizures

Genetic Diversity and Population Structure of the Secondary Symbiont of Tsetse Flies, Sodalis glossinidius, in Sleeping Sickness Foci in Cameroon

Human African trypanosomiasis remains a threat to the poorest people in Africa. The trypanosomes causing the disease are transmitted by tsetse flies. The drugs currently used are unsatisfactory: some are toxic and all are difficult to administer. Furthermore, drug resistance is increasing. Therefore, investigations for novel disease control strategies are urgently needed. Previous analyses showed the association between the presence of Glossina symbiont, Sodalis glossinidius, and the fly infection by trypanosomes in a south-western region in Cameroon: flies harbouring symbionts had a threefold higher probability of being infected by trypanosomes than flies devoid of symbionts. But the study also showed substantial differences in S. glossinidius and trypanosome infection rates between Glossina populations from two Cameroonian foci of sleeping sickness. We hypothesized that the geographical isolation of the two foci may have induced the independent evolution of each one, leading to the diversification of symbiont genotypes. Microsatellite markers were used and showed that genetic diversity structuring of S. glossinidius varies at different geographical scales with a low but significant differentiation between the Campo and Bipindi HAT foci. This encourages further work on interactions between S. glossinidius subpopulations and Glossina species that could favor tsetse fly infections by a given trypanosome species

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype

Matrix-assisted laser desorption ionization hydrogen/deuterium exchange studies to probe peptide conformational changes

AbstractHydrogen/deuterium (H/D) exchange chemistry monitored by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry is used to study solution phase conformational changes of bradykinin, α-melanocyte stimulating hormone, and melittin as water is added to methanol-d4, acetonitrile, and isopropanol-d8 solutions. The results are interpreted in terms of a preference for the peptides to acquire more compact conformations in organic solvents as compared to the random conformations. Our interpretation is supported by circular dichroism spectra of the peptides in the same solvent systems and by previously published structural data for the peptides. These results demonstrate the utility of MALDI-TOF as a method to monitor the H/D exchange chemistry of peptides and investigations of solution-phase conformations of biomolecules