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"Dupont, Odile"
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Libraries Serving Dialogue
The IFLA Religious Libraries in Dialogue Special Interest Group is dedicated to libraries serving as places of dialogue between cultures through a better knowledge of religions. This book based on experiences of libraries serving interreligious dialogue, presents themes like library tools serving dialogue between cultures, collections dialoguing, children and young adults dialoguing beyond borders, story telling as dialog, librarians serving interreligious dialogue.
eBook
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype–phenotype correlations to improve genetic counselling and patients’ medical care.MethodsWe retrospectively analysed data from 16 013 patients referred to 12 genetic centers for DD, ID or ASD, and who had a chromosomal microarray analysis. The referring geneticists of patients for whom a 16p13.11 duplication was detected were asked to complete a questionnaire for detailed clinical and genetic data for the patients and their parents.ResultsClinical features are mainly speech delay and learning disabilities followed by ASD. A significant risk of cardiovascular disease was noted. About 90% of the patients inherited the duplication from a parent. At least one out of four parents carrying the duplication displayed a similar phenotype to the propositus. Genotype–phenotype correlations show no impact of the size of the duplicated segment on the severity of the phenotype. However, NDE1 and miR-484 seem to have an essential role in the neurocognitive phenotype.ConclusionOur study shows that 16p13.11 microduplications are likely pathogenic when detected in the context of DD/ID/ASD and supports an essential role of NDE1 and miR-484 in the neurocognitive phenotype. Moreover, it suggests the need for cardiac evaluation and follow-up and a large study to evaluate the aortic disease risk.
Journal Article
Safety profile of intracranial electrode implantation for video-EEG recordings in drug-resistant focal epilepsy
Invasive electroencephalography recordings with depth or subdural electrodes are necessary to identify the ictogenic area in some drug-resistant focal epilepsies. We aimed to analyze the safety profile of intracranial electrode implantation in a tertiary center and the factors associated with its complications. We retrospectively examined complications in 163 intracranial procedures performed in adult patients. Implantation methods included oblique depth stereotactic approach (
n
= 128) and medial–temporal depth stereotactic approach in combination with subdural strip placement (
n
= 35). 1201 depth macroelectrodes, 59 bundles of microelectrodes (in 30 patients) and 148 subdural electrodes were implanted. Complications were classified as major (requiring treatment or leading to neurological impairment) or minor. The rate of overall complications was 4.9 % (
n
= 8), with 3.1 % (
n
= 5) of major complications, though no permanent morbidity or mortality was recorded. Infection occurred in 1.2 % and hemorrhage in 3.7 % of patients. One hemorrhage occurred for every 225 electrodes implanted (4.4 ‰). Microelectrodes were not responsible for any complications. Overall and hemorrhagic complications were significantly associated with MRI-negative cases (7.3 and 6.3 % versus 0 %,
p
= 0.04). We believe that intracranial electrode implantation has a favorable safety profile, without permanent deficit. These risks should be balanced with the benefits of invasive exploration prior to surgery. Furthermore, this study provides preliminary evidence regarding the safety of micro-macroelectrodes.
Journal Article
Routes to improve the strengthening of paper with aminoalkylalkoxysilanes
Aminoalkylalkoxysilane copolymers (co-AAAS) have the ability to simultaneously deacidify and strengthen paper documents. Nevertheless, despite enhancing the tensile strength, they generally fail to improve the folding endurance of the degraded groundwood pulp-rich papers. Focusing on that specific type of papers, several ways to overcome their lack of reinforcement were investigated. Promoting the polymerization of AAAS using catalysts and thermal steps was one of them. A monitoring with FTIR spectroscopy showed that the thermal step was the most efficient in speeding up the hydrolysis and polycondensation of 3-aminopropylmethyldiethoxysilane (AM) monomer in aqueous solutions. The progress of the two-steps reaction in terms of degree of polymerization of AAAS polymers was then studied in-situ after heating the paper, using Cross Polarization—Magic Angle Spinning 29Si solid-state NMR, and was shown to be enhanced as well. The other optimization route explored was to stabilize the paper before treatment. Our previous research had shown that the presence of oxidized groups in paper hampered the strengthening. Sodium borohydride, a known bleaching agent in paper conservation, was used prior to the AAASs treatment to decrease the amount of carbonyls in paper. The reduction and the thermal step were compared in terms of the mechanical properties (folding endurance and tensile strength) upon AAASs treatment of several lignocellulosic papers, including three newsprints dated 1911–1923. The use of sodium borohydride led to a significant improvement of the folding endurance of the samples, an unprecedented result. It enabled at the same time to counteract the yellowing induced by the AAAS and to build a larger alkaline reserve.
Journal Article
Mouse HSA+ immature cardiomyocytes persist in the adult heart and expand after ischemic injury
The assessment of the regenerative capacity of the heart has been compromised by the lack of surface signatures to characterize cardiomyocytes (CMs). Here, combined multiparametric surface marker analysis with single-cell transcriptional profiling and in vivo transplantation identify the main mouse fetal cardiac populations and their progenitors (PRGs). We found that CMs at different stages of differentiation coexist during development. We identified a population of immature heat stable antigen (HSA)/ cluster of differentiation 24 (CD24)+ CMs that persists throughout life and that, unlike other CM subsets, actively proliferates up to 1 week of age and engrafts cardiac tissue upon transplantation. In the adult heart, a discrete population of HSA/CD24+ CMs appears as mononucleated cells that increase in frequency after infarction. Our work identified cell surface signatures that allow the prospective isolation of CMs at all developmental stages and the detection of a subset of immature CMs throughout life that, although at reduced frequencies, are poised for activation in response to ischemic stimuli. This work opens new perspectives in the understanding and treatment of heart pathologies.
Journal Article
Strengthening naturally and artificially aged paper using polyaminoalkylalkoxysilane copolymer networks
Various parameters that may affect the efficiency of tri- and di-functional aminoalkylalkoxysilanes (AAAS) copolymer treatments to deacidify and mechanically strengthen aged complex papers (lignocellulosic pulp, additives) were studied. Three model papers were first hydrothermally aged (90 °C—50% RH) in order to achieve physicochemical characteristics similar to those of a naturally aged newsprint, and were then treated with AAAS copolymers. The chemical composition of the treatments varied from 50 to 5 wt% of tri-functional monomer APTES, the latter acting as cross-linker in the copolymer network. The respective ratio of tri- and di-functional monomers in the mixture was shown to greatly influence the mechanical properties of the treated papers in the case of APTES/DIAMINO but less so in the case of APTES/AMDES. If APTES/DIAMINO (50/50 wt%) did not strengthen the degraded papers, a higher proportion of DIAMINO (95 wt%) and lower proportion of APTES (5 wt%) led to improving the tensile strength and, more importantly for the function properties of paper, significantly enhancing the folding endurance. The treatment efficiency decreased at higher state of deterioration of the papers and in the presence of alum–rosin sizing. Lastly, the treatments developed for the artificially aged model papers were applied to the degraded newsprint paper specimen and successfully enhanced its mechanical properties.
Graphical abstract
Journal Article
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
BackgroundMutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation.Objectives and patients19 selected families with at least one DS patient were studied to describe the mechanisms accounting for inherited SCN1A mutations in DS. The mutation identified in the DS probands was searched in available parents and relatives and quantified in the blood cells of the transmitting parent using quantitative allele specific assays.ResultsMosaicism in the blood cells of the transmitting parent was demonstrated in 12 cases and suspected in another case. The proportion of mutated allele in the blood varied from 0.04–85%. In the six remaining families, six novel missense mutations were associated with autosomal dominant variable GEFS+ phenotypes including DS as the more severe clinical picture.ConclusionThe results indicate that mosaicism is found in at least 7% of families with DS. In the remaining cases (6/19, 32%), the patients were part of multiplex GEFS+ families and seemed to represent the extreme end of the GEFS+ clinical spectrum. In this latter case, additional genetic or environmental factors likely modulate the severity of the expression of the mutation.
Journal Article