Ecological Assessment of Everyday Executive Functioning at Home and at School using the BRIEF Questionnaire following Childhood Traumatic Brain Injury (TBI)

IntroductionCognitive and behavioural aspects of executive functioning (EF) are frequently impaired following childhood TBI. The Behavior Rating Inventory of Executive Function (BRIEF) questionnaire provides an ecological assessment of EFs in everyday life in home and school environments. The aims of this study were to describe the dysexecutive disorders in children with TBI using the BRIEF; to compare parent- and teacher-ratings and to analyse the demographic and medical variables influencing outcome.MethodsParticipants: Children/adolescents aged 5–17 years 11 months, referred to a paediatric rehabilitation department following TBI. Outcome measures: the parent–and the teacher-report of the BRIEF were collected during neuropsychological assessment (2009–2014), as well as the teacher-report (from 2014). Age at injury and assessment, parental education and TBI severity were collected.Results194 patients (142 boys) participated in the study [mild (n=13), moderate (n=12) or severe (n=169: mean duration of coma 7.2 days; SD=6.5)]. 193 parent-reports and 28 complete teacher reports of the BRIEF were available. Mean age at injury/assessment were 6.9 (SD=4.4), and 11.8 (SD=3.5) years respectively. According to parent-ratings, children had significantly elevated scores in all BRIEF indices [Global Executive Composite (GEC), Behaviour Regulation Index (BRI), Metacognition Index (MI)], and subscales (mean T-scores 61–64; all P<.0001), with 24% to 48.0% scoring in the clinical range. Teachers’ ratings indicated similar deficits in all sub-scales (mean T-scores 63–70; all P<.001), with 39.3–57.2% scoring in the clinical range. For patients with teacher and parent-reports (n=27), no significant difference was found between parent and teacher ratings, which were significantly correlated (r: .44–.72). Regression analyses indicated that GEC was significantly predicted by older age at assessment. The regression model for BRI was not significant. For MI, younger age at injury and older age at assessment were significant predictors.Discussion and conclusionThis study highlights elevated levels of executive dysfunction in everyday life following childhood TBI, evident in home and school environments. Younger age at injury seems to influence the cognitive rather than the behavioural aspects of EFs, whereas older age at assessment is related to higher levels of complaints, probably due to the increasing levels of expectations

Frame Theory for Signal Processing in Psychoacoustics

This review chapter aims to strengthen the link between frame theory and signal processing tasks in psychoacoustics. On the one side, the basic concepts of frame theory are presented and some proofs are provided to explain those concepts in some detail. The goal is to reveal to hearing scientists how this mathematical theory could be relevant for their research. In particular, we focus on frame theory in a filter bank approach, which is probably the most relevant view-point for audio signal processing. On the other side, basic psychoacoustic concepts are presented to stimulate mathematicians to apply their knowledge in this field

Syntectonic mobility of supergene nickel ores of New Caledonia (Southwest Pacific). Evidence from faulted regolith and garnierite veins.

International audienceSupergene nickel deposits of New Caledonia that have been formed in the Neogene by weathering of obducted ultramafic rocks are tightly controlled by fracture development. The relationship of tropical weathering and tectonic structures, faults and tension gashes, have been investigated in order to determine whether fractures have play a passive role only, as previously thought; or alternatively, if brittle tectonics was acting together with alteration. From the observation of time-relationship, textures, and mineralogy of various fracture fills and fault gouges, it may be unambiguously established that active faulting has play a prominent role not only in facilitating drainage and providing room for synkinematic crystallisation of supergene nickel silicate, but also in mobilising already formed sparse nickel ore, giving birth to the very high grade ore nicknamed "green gold"

Vegetation type, not the legacy of warming, modifies the response of microbial functional genes and greenhouse gas fluxes to drought in oro-arctic and alpine regions

Climate warming and summer droughts alter soil microbial activity, affecting greenhouse gas (GHG) emissions in arctic and alpine regions. However, the long-term effects of warming, and implications for future microbial resilience, are poorly understood. Using one alpine and three arctic soils subjected to in situ long-term experimental warming, we simulated drought in laboratory incubations to test how microbial functional-gene abundance affects fluxes in three GHGs: carbon dioxide, methane, and nitrous oxide. We found that responses of functional gene abundances to drought and warming are strongly associated with vegetation type and soil carbon. Our sites ranged from a wet, forb dominated, soil carbon-rich systems to a drier, soil carbon-poor alpine site. Resilience of functional gene abundances, and in turn methane and carbon dioxide fluxes, was lower in the wetter, carbon-rich systems. However, we did not detect an effect of drought or warming on nitrous oxide fluxes. All gene-GHG relationships were modified by vegetation type, with stronger effects being observed in wetter, forb-rich soils. These results suggest that impacts of warming and drought on GHG emissions are linked to a complex set of microbial gene abundances and may be habitat-specific

Transcriptional Regulation of Ribosome Components Are Determined by Stress According to Cellular Compartments in Arabidopsis thaliana

Plants have to coordinate eukaryotic ribosomes (cytoribosomes) and prokaryotic ribosomes (plastoribosomes and mitoribosomes) production to balance cellular protein synthesis in response to environmental variations. We identified 429 genes encoding potential ribosomal proteins (RP) in Arabidopsis thaliana. Because cytoribosome proteins are encoded by small nuclear gene families, plastid RP by nuclear and plastid genes and mitochondrial RP by nuclear and mitochondrial genes, several transcriptional pathways were attempted to control ribosome amounts. Examining two independent genomic expression datasets, we found two groups of RP genes showing very different and specific expression patterns in response to environmental stress. The first group represents the nuclear genes coding for plastid RP whereas the second group is composed of a subset of cytoribosome genes coding for RP isoforms. By contrast, the other cytoribosome genes and mitochondrial RP genes show less constraint in their response to stress conditions. The two subsets of cytoribosome genes code for different RP isoforms. During stress, the response of the intensively regulated subset leads to dramatic variation in ribosome diversity. Most of RP genes have same promoter structure with two motifs at conserved positions. The stress-response of the nuclear genes coding plastid RP is related with the absence of an interstitial telomere motif known as telo box in their promoters. We proposed a model for the “ribosome code” that influences the ribosome biogenesis by three main transcriptional pathways. The first pathway controls the basal program of cytoribosome and mitoribosome biogenesis. The second pathway involves a subset of cytoRP genes that are co-regulated under stress condition. The third independent pathway is devoted to the control of plastoribosome biosynthesis by regulating both nuclear and plastid genes

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. RESULTS: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5'-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. INTERPRETATION: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240

Epidemiology and Antimicrobial Resistance of Streptococcus pneumoniae in France in 2007: Data from the Pneumococcus Surveillance Network

Antimicrobial resistance of Streptococcus pneumoniae in France is closely monitored by the pneumococcus surveillance network, founded in 1995, which collects data from regional observatories (Observatoire Régionaux du Pneumocoque [ORP]). In 2007, 23 ORPs analyzed the antibiotic susceptibility of 5,302 isolates of S. pneumoniae recovered in France from cerebrospinal fluid, blood, middle ear fluid, and pleural fluid, as well as from adult respiratory samples. The study showed that 38.2% of the strains were nonsusceptible to penicillin, 19.3% nonsusceptible to amoxicillin, and 10.5% nonsusceptible to cefotaxime. The percentage of pneumococcus nonsusceptible to penicillin varied according to both the sample and the age of the patient (child/adult): blood (27.8%/32.5%), cerebrospinal fluid (33.7%/34.6%), middle ear fluid (60.2%/27.5%), and pleural fluid (50.0%/31.0%). Between 2003 and 2007, the frequency of penicillin resistance in invasive pneumococcal disease gradually decreased from 46.4% to 29.0% in children and from 43.8% to 32.7% in adults. This decrease coincided with the introduction of a seven-valent pneumococcal conjugate vaccine into immunization programs and with a general reduction in levels of antibiotic consumption in France

Adaptive molecular evolution of the Major Histocompatibility Complex genes, DRA and DQA, in the genus Equus

<p>Abstract</p> <p>Background</p> <p>Major Histocompatibility Complex (MHC) genes are central to vertebrate immune response and are believed to be under balancing selection by pathogens. This hypothesis has been supported by observations of extremely high polymorphism, elevated nonsynonymous to synonymous base pair substitution rates and trans-species polymorphisms at these loci. In equids, the organization and variability of this gene family has been described, however the full extent of diversity and selection is unknown. As selection is not expected to act uniformly on a functional gene, maximum likelihood codon-based models of selection that allow heterogeneity in selection across codon positions can be valuable for examining MHC gene evolution and the molecular basis for species adaptations.</p> <p>Results</p> <p>We investigated the evolution of two class II MHC genes of the Equine Lymphocyte Antigen (ELA), <it>DRA </it>and <it>DQA</it>, in the genus <it>Equus </it>with the addition of novel alleles identified in plains zebra (<it>E. quagga</it>, formerly <it>E. burchelli</it>). We found that both genes exhibited a high degree of polymorphism and inter-specific sharing of allele lineages. To our knowledge, <it>DRA </it>allelic diversity was discovered to be higher than has ever been observed in vertebrates. Evidence was also found to support a duplication of the <it>DQA </it>locus. Selection analyses, evaluated in terms of relative rates of nonsynonymous to synonymous mutations (<it>d</it>_N<it>/d</it>_S) averaged over the gene region, indicated that the majority of codon sites were conserved and under purifying selection (<it>d</it>_N<<it>d</it>_S). However, the most likely evolutionary codon models allowed for variable rates of selection across codon sites at both loci and, at the <it>DQA</it>, supported the hypothesis of positive selection acting on specific sites.</p> <p>Conclusions</p> <p>Observations of elevated genetic diversity and trans-species polymorphisms supported the conclusion that balancing selection may be acting on these loci. Furthermore, at the <it>DQA</it>, positive selection was occurring at antigen binding sites, suggesting that a few selected residues may play a significant role in equid immune function. Future studies in natural equid populations will be valuable for understanding the functional significance of the uniquely diverse <it>DRA </it>locus and for elucidating the mechanism maintaining diversity at these MHC loci.</p