Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in ...these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children.
Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses.
ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R.
Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed.
Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.
ABSTRACTIn the human genome, genetic sequences that differ in the numbers of copies, or so-called copy number variations (CNVs), can be associated with intellectual disability and developmental ...delay. Large, recurrent CNVs are particularly associated with these complex disorders. Previous studies of the effects of large CNVs have generally pediatric subjects with clinical disordered, and there are more limited data on the population frequency in asymptomatic adults. This study looks at the adult carriers of CNVs and aims to assess the consequences of rare CNVs.The study utilized the Estonian Genome Center at the University of Tartu, which includes 52,000 participants. For CV analysis, genomic DNA from 6819 individuals was used for the discovery cohort and 1058 for the replication cohorts. The phenotypes of CNV carriers were compared with phenotypes in the general population. A third “high-functioning replication cohort” of 933, as well as a UK cohort of 5218, a US cohort of 2390, and an Italian cohort of 451, was used for replication for further analysis regarding education attainment.In the Estonian cohort, 56 of 7877 participants were identified as carriers of known autosomal genomic disorders. Of the 6819 individuals in the discovery cohort, 509 were identified as duplication carriers, and 216 were identified as deletion carriers. Of the 216 deletion carriers of at least 250 kb, 11 (5.1%) had an intellectual disability (odds ratio OR, 3.16%; 95% confidence interval CI, 1.51–5.98; P = 1.5E−03). Of 102 carrier with a duplication of at least 1 Mb, 6 (5.9%) had an intellectual disability (OR, 3.67; 95% CI, 1.29–8.54; P = 0.008). This was compared with 114 in the Estonian cohort of 6819 (1.7%); 3.2% of rare CNV carriers were diagnosed with intellectual disabilities, whereas 1.7% of the Estonian cohort was diagnosed with intellectual disability (OR, 1.93; 95% CI, 1.17–3.06; P = 0.007). Larger CNV size was shown to be associated with frequency of intellectual disability; 33.5% of deletion carriers (OR, 1.48; 95% CI, 1.12–1.95; P = 0.005) and 39.1% of duplication carriers (OR; 1.89; 95% CI, 1.27–2.8; P = 1.6e−03) did not graduate from high school.Evidence supporting an association between prevalence of intellectual disability and carrier status was found. Analysis of the Italian, United States, and United Kingdom cohorts supported the association between rare CNVs and lower educational attainment, but further replication of the study’s findings is needed.
The composition of the ionome is closely linked to a plant’s nutritional status. Under certain deficiencies, cross-talk induces unavoidable accumulation of some nutrients, which upsets the balance ...and modifies the ionomic composition of plant tissues. Rapeseed plants (Brassica napus L.) grown under controlled conditions were subject to individual nutrient deficiencies (N, K, P, Ca, S, Mg, Fe, Cu, Zn, Mn, Mo, or B) and analyzed by inductively high-resolution coupled plasma mass spectrometry to determine the impact of deprivation on the plant ionome. Eighteen situations of increased uptake under mineral nutrient deficiency were identified, some of which have already been described (K and Na, S and Mo, Fe, Zn and Cu). Additionally, as Mo uptake was strongly increased under S, Fe, Cu, Zn, Mn, or B deprivation, the mechanisms underlying the accumulation of Mo in these deficient plants were investigated. The results suggest that it could be the consequence of multiple metabolic disturbances, namely: (i) a direct disturbance of Mo metabolism leading to an up-regulation of Mo transporters such as MOT1, as found under Zn or Cu deficiency, which are nutrients required for synthesis of the Mo cofactor; and (ii) a disturbance of S metabolism leading to an up-regulation of root SO₄2− transporters, causing an indirect increase in the uptake of Mo in S, Fe, Mn, and B deficient plants.
•Silicon promotes barley growth and delays leaf senescence under combined S deficiency and osmotic stress.•Silicon transcriptionally regulates sulfur metabolism under combined S deficiency and ...osmotic stress.•Silicon transcriptionally regulates ABA metabolism and reduced ABA level under combined S deficiency and osmotic stress.
Several studies have revealed that both sulfur (S) and silicon (Si) nutrition play a pivotal role in alleviating drought stress tolerance in plants. Additionally, Si application has also been reported to mitigate plant nutrient deficiency. However, to date there is no report that evaluates the performance and relevance of Si nutrition under S deficiency. In the present study, we explored the role of supplemental Si on S metabolism under combined S deficiency and osmotic stress. Barley plants were simultaneously subjected to polyethylene glycol (PEG)-induced osmotic stress under low or high S supply and Si nutrition. The results showed that Si supply regulated S and ABA metabolism at the transcriptional level under combined S deficiency and osmotic stress. The induction of the genes involved in S metabolism further contributed to the balance of redox potential by lowering the GSSG/GSH ratio and reducing H2O2 level in shoots. The transcriptional regulation of the genes involved in ABA biosynthesis and degradation pathways by Si reduced the level of shoot ABA under combined stress. Additionally, Si resulted in delayed leaf senescence under combined stresses by increasing chlorophyll levels, suppressing the expression of barley senescence gene HvS40, and reducing IAA levels. Therefore, shoots showed enhanced tolerance to osmotic stress under S deficiency as supported by higher sucrose concentrations, higher relative water content and higher shoot biomass. In roots under combined stress, Si induced the expression of the sulfur transporter HvST1;1 which resulted in a higher uptake of SO42− and NO3−. The higher root NO3- increased both glutamine and proline concentration. The higher sucrose in roots also increased root biomass, reflecting the tolerance of roots to osmotic stress. Our investigation reveals an important role of Si in transcriptionally regulating S and ABA metabolism under collective stress conditions manifested by S deficiency and osmotic stress.
Abstract Objectives:As many disparities in the clinical use of HIV DNA sequencing are observed, a DELPHI-type consensus was initiated in France to homogenize use, techniques, and interpretation of ...results.Methods: Based on a literature review and clinical experience, a Steering Committee (SC) of eight virologists and one infectious disease specialist formulated statements. Statements were submitted to an independent and anonymous electronic vote of virologists and HIV clinicians in France, between October and December 2022. Results: The SC developed 20 statements grouped into six categories: clinical situations for the use of HIV DNA genotyping; techniques for performing HIV DNA genotyping; consideration of APOBEC mutations; genotyping results reporting; recycling of antiretrovirals; availability of HIV DNA genotyping tests and delays. Twenty-one virologists and 47 clinicians participated in two voting rounds and 18/20 (90%) assertions reached a ‘strong’ consensus. For example, that prior genotyping on HIV DNA is useful for clinical decision-making when considering switching to some long-acting regimens or to reduce the number of antiretroviral agents in virologically suppressed patients for whom RNA data are unavailable / not exploitable / not sufficiently informative. Two statements achieved no consensus: reporting any detected viral minority population for discussion in multidisciplinary meetings (virologists), and possible risk of virologic failure when using a second generation InSTI + XTC regimen in patients with undetectable viral load ≥1 year and in the presence of a documented M184V mutation <5 years (clinicians).Conclusion: This DELPHI-type consensus will facilitate the strengthening and harmonization of good practice when performing HIV DNA sequencing.
Monitoring of viral loads (VL) for hepatitis B and C viruses (HBV; HCV) is essential to evaluate disease progression and treatment response. Automated, random-access rapid systems are becoming ...standard to provide clinicians with reliable VL. The aim of this study was to evaluate the analytical performances of the recently launched NeuMoDx™ for HBV-DNA and HCV-RNA quantification.
Clinical samples routinely quantified on the Beckman–Veris system were either retrospectively (frozen samples; HBV n = 178, HCV n = 249), or in parallel (fresh primary tubes; HBV n = 103, HCV n = 117) tested using NeuMoDx™. Linearity range was assessed on serial dilutions of high-titre plasmas containing different genotypes for HBV (A–E, n = 9) and HCV (1a,1b,2–5, n = 12).
Overall test failure, mostly internal control amplification failure, was 2.3% and was not influenced by matrix types (fresh or frozen). For HBV VL, κ agreement was 74%, with 27 (12.6%) discrepancies. Correlation between HBV assays on 72 quantified samples by both methods was excellent (r = 0.963) with a mean bias (NeuMoDx™–Veris) of 0.21 log IU/mL. For HCV VL, κ agreement reached 94%, with 9 (2.8%) discrepancies. The r correlation factor between assays on 104 samples was 0.960 with a mean bias of –0.14 log IU/mL (NeuMoDx™–Veris). Serial dilutions confirmed the claimed linear ranges for all analysed HBV and HCV genotypes. The mean turnaround time was 72 minutes (range 55–101 minutes) for HBV and 96 minutes (range 78–133 minutes) for HCV.
Results obtained on the NeuMoDx™ confirmed the overall good functionality of the system with a short turn-around-time, full traceability and easy handling. These results on HBV and HCV VL look promising and should be challenged with further comparisons.
Abstract
Objectives
As many disparities in the clinical use of HIV DNA sequencing are observed, a DELPHI-type consensus was initiated in France to homogenize use, techniques and interpretation of ...results.
Methods
Based on a literature review and clinical experience, a steering committee (SC) of eight virologists and one infectious disease specialist formulated statements. Statements were submitted to an independent and anonymous electronic vote of virologists and HIV clinicians in France, between October 2022 and December 2022.
Results
The SC developed 20 statements grouped into six categories: clinical situations for the use of HIV DNA genotyping; techniques for performing HIV DNA genotyping; consideration of apolipoprotein B mRNA editing enzyme (APOBEC) mutations; genotyping results reporting; recycling of antiretrovirals; and availability of HIV DNA genotyping tests and delays. Twenty-one virologists and 47 clinicians participated in two voting rounds and 18/20 (90%) assertions reached a ‘strong’ consensus. For example, that prior genotyping on HIV DNA is useful for clinical decision-making when considering switching to some long-acting regimens or to reduce the number of antiretroviral agents in virologically suppressed patients for whom RNA data are unavailable/not exploitable/not sufficiently informative. Two statements achieved no consensus: reporting any detected viral minority population for discussion in multidisciplinary meetings (virologists), and possible risk of virological failure when using a second-generation InSTI plus lamivudine or emtricitabine regimen in patients with undetectable viral load within ≥1 year and in the presence of a documented M184V mutation within the last 5 years (clinicians).
Conclusions
This DELPHI-type consensus will facilitate the strengthening and harmonization of good practice when performing HIV DNA sequencing.
Higher plants have to cope with fluctuating mineral resource availability. However, strategies such as stimulation of root growth, increased transporter activities, and nutrient storage and ...remobilization have been mostly studied for only a few macronutrients. Leaves of cultivated crops (Zea mays, Brassica napus, Pisum sativum, Triticum aestivum, Hordeum vulgare) and tree species (Quercus robur, Populus nigra, Alnus glutinosa) grown under field conditions were harvested regularly during their life span and analyzed to evaluate the net mobilization of 13 nutrients during leaf senescence. While N was remobilized in all plant species with different efficiencies ranging from 40% (maize) to 90% (wheat), other macronutrients (K-P-S-Mg) were mobilized in most species. Ca and Mn, usually considered as having low phloem mobility were remobilized from leaves in wheat and barley. Leaf content of Cu-Mo-Ni-B-Fe-Zn decreased in some species, as a result of remobilization. Overall, wheat, barley and oak appeared to be the most efficient at remobilization while poplar and maize were the least efficient. Further experiments were performed with rapeseed plants subjected to individual nutrient deficiencies. Compared to field conditions, remobilization from leaves was similar (N-S-Cu) or increased by nutrient deficiency (K-P-Mg) while nutrient deficiency had no effect on Mo-Zn-B-Ca-Mn, which seemed to be non-mobile during leaf senescence under field conditions. However, Ca and Mn were largely mobilized from roots (-97 and -86% of their initial root contents, respectively) to shoots. Differences in remobilization between species and between nutrients are then discussed in relation to a range of putative mechanisms.
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