Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Polyclonal expansion of TCR Vbeta 21.3 CD4 and CD8 T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Multiple Inflammatory Syndrome in Children (MIS-C) is a delayed and severe complication of SARS-CoV-2 infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease and Toxic Shock Syndrome (TSS), we aimed to compare the immunological profile of pediatric patients with these different conditions. We analyzed blood cytokine expression, and the T cell repertoire and phenotype in 36 MIS-C cases, which were compared to 16 KD, 58 TSS, and 42 COVID-19 cases.

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

Background: Systemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-wide association studies have identified more than 90 risk loci. We aimed to analyse the contribution of rare and predicted pathogenic gene variants in a population of unselected cases of childhood-onset SLE.

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.

LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects. Muscle laminopathies include Emery-Dreifuss Muscular Dystrophy, Limb-Girdle Muscular Dystrophy 1B, LMNA-related Congenital Muscular Dystrophy and Dilated Cardiomyopathy with conduction defects.

The effects of mechanical loading and gadolinium concentration on the change of T1 and quantification of glycosaminoglycans in articular cartilage by microscopic MRI.

Microscopic MRI (µMRI) T1 experiments were carried out to investigate the strain dependence of the T1 change and glycosaminoglycans (GAG) quantification in articular cartilage at a spatial resolution of 17.6 µm. Both native and trypsin-degraded specimens were immersed in various concentrations of gadolinium (Gd) (up to 1 mM) and imaged at different strains (up to 50% strains).

Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor.

The phosphatidylinositol 3-kinase-mammalian target of rapamycin (PI3K-mTOR) pathway plays pivotal roles in cell survival, growth, and proliferation downstream of growth factors. Its perturbations are associated with cancer progression, type 2 diabetes, and neurological disorders. To better understand the mechanisms of action and regulation of this pathway, we initiated a large scale yeast two-hybrid screen for 33 components of the PI3K-mTOR pathway.

Copper mobilization affected by weather conditions in a stormwater detention system receiving runoff waters from vineyard soils (Champagne, France).

Copper, a priority substance on the EU-Water Framework Directive list, is widely used to protect grapevines against fungus diseases. Many vineyards being located on steep slopes, large amounts of Cu could be discharged in downstream systems by runoff water. The efficiency of stormwater detention basins to retain copper in a vineyard catchment was estimated.

Comparison of microwave-assisted digestion procedures for total trace element content determination in calcareous soils.

The aim of the study was to determine total trace (Cd, Co, Cr, Cu, Mn, Pb and Zn) and major (Al and Fe) element concentrations in calcareous soils using microwave-assisted digestion procedures. The literature showing lack of consensus regarding digestion procedures and unsatisfying recoveries for calcareous materials, four procedures using various acid combinations (HCl, HNO(3), H(2)O(2), HF) and volumes were tested using a certified reference material (CRM 141R) and natural calcareous soil samples. Digests were analysed by inductively coupled plasma-atomic emission spectrometry (ICP-AES).

Factors affecting distribution and mobility of trace elements (Cu, Pb, Zn) in a perennial grapevine (Vitis vinifera L.) in the Champagne region of France.

Soil and Vitis vinifera L. (coarse and fine roots, leaves, berries) concentration and geochemical partitioning of Cu, Pb and Zn were determined in a contaminated calcareous Champagne plot to assess their mobility and transfer. Accumulation ratios in roots remained low (0.

Trace element partitioning and soil particle characterisation around mining and smelting areas at Tharsis, Ríotinto and Huelva, SW Spain.

Trace elements may present an environmental hazard in the vicinity of mining and smelting activities. However, the factors controlling trace element distribution in soils around ancient and modern mining and smelting areas are not always clear. Tharsis, Ríotinto and Huelva are located in the Iberian Pyrite Belt in SW Spain.