Factors associated with Autism Spectrum Disorder: a case-control study in the Lebanese population

Background: Genetic factors represent the major etiological contributor in Autism Spectrum Disorders (ASD) but several studies also support the involvement of environmental factors. This last hypothesis is reinforced by the evident increase in the prevalence of this disorder in the last decades. Thus, in our study, we aimed to identify the correlation between factors related to sociodemographic elements, to child and mother’s health and ASD in order to dress a best detailed profile of the patients. Methods: We conducted a case-control study including 64 Lebanese patients with ASD and 67 matched controls recruited from all the Lebanese districts. Our data has been analyzed by SPSS 23.0 and the statistical tests carried out were the Independent Sample t-test and the Chi-Square test. In addition, a multivariate logistic regression analysis has been carried out using variables that showed a p<0.05 in the bivariate analysis. Results: Our findings suggest that consanguinity (OR=4; 95% CI [1.3-12.04]), familial history of ASD (6.7 [1.1- 39.3]), stress during pregnancy (3.6 [1.5 8.2]) and fetal prematurity (6.3 [1.2-33.01]) were significantly associated with increased odds of ASD. However, our results have shown no association between siblings suffering from diseases such as mental retardation, child’s infections and ASD. Conclusion: This pilot study carried out in all the regions of Lebanon allowed us to shed the light on factors associated with ASD which might be preventable

Superconductivity and charge-carrier localization in ultrathin La1.85Sr0.15CuO4/La2CuO4{\mathrm{La}}_{1.85}{\mathrm{Sr}}_{0.15}{\mathrm{CuO}}_{4}/{\mathrm{La}}_{2}{\mathrm{CuO}}_{4} bilayers

La1.85Sr0.15CuO4/La2CuO4 (LSCO15/LCO) bilayers with a precisely controlled thickness of N unit cells (UCs) of the former and M UCs of the latter ([LSCO15_N/LCO_M]) were grown on (001)-oriented SrLaAlO4 (SLAO) substrates with pulsed laser deposition (PLD). X-ray diffraction and reciprocal space map (RSM) studies confirmed the epitaxial growth of the bilayers and showed that a [LSCO15_2/LCO_2] bilayer is fully strained, whereas a [LSCO15_2/LCO_7] bilayer is already partially relaxed. The in situ monitoring of the growth with reflection high energy electron diffraction (RHEED) revealed that the gas environment during deposition has a surprisingly strong effect on the growth mode and thus on the amount of disorder in the first UC of LSCO15 (or the first two monolayers of LSCO15 containing one CuO2 plane each). For samples grown in pure N2O gas (growth type B), the first LSCO15 UC next to the SLAO substrate is strongly disordered. This disorder is strongly reduced if the growth is performed in a mixture of N2O and O2 gas (growth type A). Electric transport measurements confirmed that the first UC of LSCO15 next to the SLAO substrate is highly resistive and shows no sign of superconductivity for growth type B, whereas it is superconducting for growth type A. Furthermore, we found, rather surprisingly, that the conductivity of the LSCO15 UC next to the LCO capping layer strongly depends on the thickness of the latter. A LCO capping layer with 7 UCs leads to a strong localization of the charge carriers in the adjacent LSCO15 UC and suppresses superconductivity. The magnetotransport data suggest a similarity with the case of weakly hole doped LSCO single crystals that are in a so-called ‘cluster-spin-glass state.’ We discussed several mechanisms that could lead to such a localization of holes that are embedded in a short-range ordered antiferromagnetic background for the case of a thick LCO capping layer with M=7 but not for a thin one with M=2

Therapeutic alliance, social inclusion and infection control - Towards pandemic-adapted mental health care services in Switzerland

The Covid-19 pandemic has challenged the Swiss mental health care system. Many services were downsized or closed and admission to treatment and care institutions was restricted during lockdown. While these measures were necessary according to the general containment and mitigation strategies of federal and cantonal authorities, this situation has had negative consequences for care and treatment of service users. This paper asks to re-think key aspects of the Swiss mental health care system that have demonstrated to be not adaptable to the pandemic. In particular, the paper suggests diversifying care and treatment settings and strengthening outpatient and outreach services. Finally, some proposals to foster social inclusion during and after the pandemic are outline

Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency

<p>Abstract</p> <p>Background</p> <p>Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotonergic and the brain-derived neurotrophic (BDNF) pathways. The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (<it>SLC6A4</it>) and the brain-derived neurotrophic factor gene (<it>BDNF</it>), are associated with mental deficiency (MD).</p> <p>Methods</p> <p>We analyzed four functional polymorphisms (rs25531, 5-HTTLPR, VNTR, rs3813034) of the <it>SLC6A4 </it>gene and one functional polymorphism (Val66 Met) of the <it>BDNF </it>gene in 98 patients with non-syndromic mental deficiency (NS-MD) and in an ethnically matched control population of 251 individuals.</p> <p>Results</p> <p>We found no significant differences in allele and genotype frequencies in the five polymorphisms studied in the <it>SLC6A4 </it>and <it>BDNF </it>genes of NS-MD patients versus control patients. While the comparison of the patterns of linkage disequilibrium (D') in the control and NS-MD populations revealed a degree of variability it did not, however, reach significance. No significant differences in frequencies of haplotypes and genotypes for VNTR/rs3813034 and rs25531/5-HTTLPR were observed.</p> <p>Conclusion</p> <p>Altogether, results from the present study do not support a role for any of the five functional polymorphisms of <it>SLC6A4 </it>and <it>BDNF </it>genes in the aetiology of NS-RM. Moreover, they suggest no epistatic interaction in NS-MD between polymorphisms in <it>BDNF </it>and <it>SLC6A4</it>. However, we suggest that further studies on these two pathways in NS-MD remain necessary.</p

Urinary Elimination of Coproporphyrins Is Dependent on ABCC2 Polymorphisms and Represents a Potential Biomarker of MRP2 Activity in Humans

MRP2 encoded by ABCC2 gene is involved in the secretion of numerous drugs and endogenous substrates. Patients with Dubin-Johnson syndrome due to mutation in ABCC2 gene have elevated urinary coproporphyrin ratio (UCP I/(I + III)). Here we investigated whether this ratio could serve as a biomarker of MRP2 function. Phenotype-genotype relationships were studied in 74 healthy subjects by measuring individual UCP I/(I + III) ratio obtained on 24-hour urine and by analyzing five common SNPs in ABCC2 gene. The UCP I/(I + III) ratio varied from 14.7% to 46.0% in our population. Subjects with 3972TT genotype had a higher ratio (P = .04) than those carrying the C allele. This higher UCP I/(I + III) ratio was correlated with a higher level of isomer I excretion. This study provides a proof of concept that UCP I/(I + III) ratio can be used as a biomarker of MRP2 function in clinical studies as it provides quantitative information about the in vivo activity of MRP2 in a given patient

Lifestyle Behaviours of Children and Adolescents During the First Two Waves of the COVID-19 Pandemic in Switzerland and Their Relation to Well-Being: An Observational Study

Objectives: To describe changes in adherence to recommendations for physical activity (PA), screen time (ST), and sleep duration over the first two waves of the pandemic in Switzerland, and to assess the associations of these lifestyle behaviours with life satisfaction and overall health as well-being indicators.Methods: In this observational study, we included 2,534 participants (5–16 years) from four Swiss cantons. Participants, or their parents, completed repeated questionnaires and reported on their (child’s) lifestyle and well-being, between June 2020 and April 2021. We used linear and logistic regression models to assess the associations between lifestyle and well-being.Results: The percentage of children meeting the recommendations for PA and ST decreased from the pre-pandemic period to the first wave, with a slight recovery during the second wave. Participants meeting all three recommendations during the second wave were more likely to report excellent health (OR: 1.65 [95% CI: 1.00–2.76]) and higher life satisfaction (β: 0.46 [0.16–0.77]) in early 2021 than participants not meeting any recommendation.Conclusion: We showed a substantial impact of the COVID-19 pandemic on children’s and adolescents’ lifestyle, and a positive association between meeting lifestyle recommendations and well-being

Reactive astrocyte COX2-PGE2 production inhibits oligodendrocyte maturation in neonatal white matter injury.

Inflammation is a major risk factor for neonatal white matter injury (NWMI), which is associated with later development of cerebral palsy. Although recent studies have demonstrated maturation arrest of oligodendrocyte progenitor cells (OPCs) in NWMI, the identity of inflammatory mediators with direct effects on OPCs has been unclear. Here, we investigated downstream effects of pro-inflammatory IL-1β to induce cyclooxygenase-2 (COX2) and prostaglandin E2 (PGE2) production in white matter. First, we assessed COX2 expression in human fetal brain and term neonatal brain affected by hypoxic-ischemic encephalopathy (HIE). In the developing human brain, COX2 was expressed in radial glia, microglia, and endothelial cells. In human term neonatal HIE cases with subcortical WMI, COX2 was strongly induced in reactive astrocytes with "A2" reactivity. Next, we show that OPCs express the EP1 receptor for PGE2, and PGE2 acts directly on OPCs to block maturation in vitro. Pharmacologic blockade with EP1-specific inhibitors (ONO-8711, SC-51089), or genetic deficiency of EP1 attenuated effects of PGE2. In an IL-1β-induced model of NWMI, astrocytes also exhibit "A2" reactivity and induce COX2. Furthermore, in vivo inhibition of COX2 with Nimesulide rescues hypomyelination and behavioral impairment. These findings suggest that neonatal white matter astrocytes can develop "A2" reactivity that contributes to OPC maturation arrest in NWMI through induction of COX2-PGE2 signaling, a pathway that can be targeted for neonatal neuroprotection

Validation of a Multiomic Model of Plasma Extracellular Vesicle Pd-L1 and Radiomics for Prediction of Response to Immunotherapy in NSCLC

BACKGROUND: Immune-checkpoint inhibitors (ICIs) have showed unprecedent efficacy in the treatment of patients with advanced non-small cell lung cancer (NSCLC). However, not all patients manifest clinical benefit due to the lack of reliable predictive biomarkers. We showed preliminary data on the predictive role of the combination of radiomics and plasma extracellular vesicle (EV) PD-L1 to predict durable response to ICIs. MAIN BODY: Here, we validated this model in a prospective cohort of patients receiving ICIs plus chemotherapy and compared it with patients undergoing chemotherapy alone. This multiparametric model showed high sensitivity and specificity at identifying non-responders to ICIs and outperformed tissue PD-L1, being directly correlated with tumor change. SHORT CONCLUSION: These findings indicate that the combination of radiomics and EV PD-L1 dynamics is a minimally invasive and promising biomarker for the stratification of patients to receive ICIs

BACCHUS Analysis of Weak Lines in APOGEE Spectra (BAWLAS)

Elements with weak and blended spectral features in stellar spectra are challenging to measure and require specialized analysis methods to precisely measure their chemical abundances. In this work, we have created a catalog of approximately 120,000 giants with high signal-to-noise APOGEE DR17 spectra, for which we explore weak and blended species to measure Na, P, S, V, Cu, Ce, and Nd abundances and $^{12}$C/$^{13}$C isotopic ratios. We employ an updated version of the BACCHUS (Brussels Automatic Code for Characterizing High accUracy Spectra) code to derive these abundances using the stellar parameters measured by APOGEE's DR17 ASPCAP pipeline, quality flagging to identify suspect spectral lines, and a prescription for upper limits. Combined these allow us to provide our BACCHUS Analysis of Weak Lines in APOGEE Spectra (BAWLAS) catalog of precise chemical abundances for these weak and blended species that agrees well with literature and improves upon APOGEE abundances for these elements, some of which are unable to be measured with APOGEE's current, grid-based approach without computationally expensive expansions. This new catalog can be used alongside APOGEE and provide measurements for many scientific applications ranging from nuclear physics to Galactic chemical evolution and Milky Way population studies. To illustrate this we show some examples of uses for this catalog, such as, showing that we observe stars with enhanced s-process abundances or that we can use the our $^{12}$C/$^{13}$C ratios to explore extra mixing along the red giant branch.Comment: 49 Pages, 30 figures, 7 Tables. Accepted for publishing in The Astrophysical Journal Supplement Series. The BAWLAS chemical abundance catalog to be made publicly available as an SDSS DR17 value-added catalog: https://www.sdss.org/dr17/data_access/value-added-catalogs

Notes on the Biology of an Adult Female Chimaera cubana Captured Off St. Croix, U.S. Virgin Islands

Within the western North Atlantic Ocean there are at least 4 genera and 5 species of chimaeroids occurring in deep waters generally associated with outer continental slopes or areas of high bathymetric relief (Didier 2002; Didier 2004). Two chimaeroids, Chimaera cubana and Hydrolagus alberti, are known to be indigenous to the Caribbean Sea in waters associated with the Greater and Lesser Antilles. While H. alberti occurs throughout the Gulf of Mexico and the Caribbean Sea, C. cubana is thought to be endemic to an area bounded by Cuba and Colombia (IUCN 2009). These two chimaeras are readily differentiated by the presence or absence of an anal fin and species–specific branching patterns of cranial lateral line canals (Didier 2004). Since the description of C. cubana by Howell–Rivero (1936), only 10 specimens have been reported in the primary literature with another 11 specimens located in museum collections (Bunkley–Williams and Williams 2004). The dearth of biological information on C. cubana led the International Union for the Conservation of Nature to recommend that “basic data be collected on all captures” (IUCN 2009)