French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.

Mavacamten, the first drug in the class of β-cardiac myosin modulator, is used for the treatment of patients with hypertrophic cardiomyopathy. This orally administered drug demonstrates wide interpatient variability in pharmacokinetics parameters, due in part to variant CYP2C19 alleles. Individuals who are CYP2C19 poor metabolizers have increased exposure and are at increased risk of reduced cardiac hypercontractility.

Barau's petrel, Pterodroma baraui, as a bioindicator of plastic pollution in the South-West Indian Ocean: A multifaceted approach.

Marine plastic pollution is well described by bioindicator species in temperate and polar regions but remains understudied in tropical oceans. We addressed this gap by evaluating the seabird Barau's petrel as bioindicator of plastic pollution in the South-West Indian Ocean. We conducted a multifaceted approach including necropsies of birds to quantify plastic ingestion; GPS tracking of breeding adults to identify their foraging areas; manta trawling of plastic debris to measure plastic pollution at sea and modelling of plastic dispersal.

Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation.

The alpha-thalassaemia alleles are very frequent in the world's population. The main molecular mechanism is a large deletion with the loss of one or two alpha genes. Another type of rarer abnormality exists: the gain of alpha genes.

Changes in microbial community structure of bio-fouled polyolefins over a year-long seawater incubation in Hawai'i.

Plastic waste, especially positively buoyant polymers known as polyolefins, are a major component of floating debris in the marine environment. While plastic colonisation by marine microbes is well documented from environmental samples, the succession of marine microbial community structure over longer time scales (> > 1 month) and across different types and shapes of plastic debris is less certain. We analysed 16S rRNA and 18S rRNA amplicon gene sequences from biofilms on polyolefin debris floating in a flow-through seawater tank in Hawai'i to assess differences in microbial succession across the plastic types of polypropylene (PP) and both high-density polyethylene (HDPE) and low-density polyethylene (LDPE) made of different plastic shapes (rod, film and cube) under the same environmental conditions for 1 year.

Do loggerhead sea turtle (Caretta caretta) gut contents reflect the types, colors and sources of plastic pollution in the Southwest Indian Ocean?

We analyzed plastic debris ingested by loggerheads from bycatch between 2007 and 2021 in the Southwest Indian Ocean (SWIO). We also analyzed plastic debris accumulated on beaches of the east coast of Madagascar as a proxy for ocean plastics to compare the characteristics of beached plastics and plastic ingested by turtles. We conducted a "brand audit" of the plastics to determine their country of origin.

Extent and reproduction of coastal species on plastic debris in the North Pacific Subtropical Gyre.

We show that the high seas are colonized by a diverse array of coastal species, which survive and reproduce in the open ocean, contributing strongly to its floating community composition. Analysis of rafting plastic debris in the eastern North Pacific Subtropical Gyre revealed 37 coastal invertebrate taxa, largely of Western Pacific origin, exceeding pelagic taxa richness by threefold. Coastal taxa, including diverse taxonomic groups and life history traits, occurred on 70.

Pelagic microplastics in the North Pacific Subtropical Gyre: A prevalent anthropogenic component of the particulate organic carbon pool.

Due to its ever-increasing ocean inputs, fossil-based microplastics (MP) comprise a considerable constituent in the particulate organic carbon (POC) pool, which is instrumental in ocean biogeochemical cycling. Their distribution within the oceanic water column and the underpinning processes, however, remain unclear. Here we show that MP prevail throughout the water column of the eastern North Pacific Subtropical Gyre, comprising 334 #/m (84.

Ancient DNA of narrow-headed vole reveal common features of the Late Pleistocene population dynamics in cold-adapted small mammals.

The narrow-headed vole, collared lemming and common vole were the most abundant small mammal species across the Eurasian Late Pleistocene steppe-tundra environment. Previous ancient DNA studies of the collared lemming and common vole have revealed dynamic population histories shaped by climatic fluctuations. To investigate the extent to which species with similar adaptations share common evolutionary histories, we generated a dataset comprised the mitochondrial genomes of 139 ancient and 6 modern narrow-headed voles from several sites across Europe and northwestern Asia covering approximately the last 100 thousand years (kyr).

A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?

Snijders Blok-Campeau syndrome is an autosomal dominant genetic disorder first described in 2018, mostly associated with de novo variants in the CHD3 gene that affects chromatin remodeling. This syndrome is characterized by developmental delay, speech delay, and intellectual disability, but only about 60 affected individuals have been reported to date. We report a de novo likely pathogenic CHD3 variant (c.

SKAP2 Modular Organization Differently Recognizes SRC Kinases Depending on Their Activation Status and Localization.

Dimerization of SRC kinase adaptor phosphoprotein 2 (SKAP2) induces an increase of binding for most SRC kinases suggesting a fine-tuning with transphosphorylation for kinase activation. This work addresses the molecular basis of SKAP2-mediated SRC kinase regulation through the lens of their interaction capacities. By combining a luciferase complementation assay and extensive site-directed mutagenesis, we demonstrated that SKAP2 interacts with SRC kinases through a modular organization depending both on their phosphorylation-dependent activation and subcellular localization.

Industrialised fishing nations largely contribute to floating plastic pollution in the North Pacific subtropical gyre.

The subtropical oceanic gyre in the North Pacific Ocean is currently covered with tens of thousands of tonnes of floating plastic debris, dispersed over millions of square kilometres. A large fraction is composed of fishing nets and ropes while the rest is mostly composed of hard plastic objects and fragments, sometimes carrying evidence on their origin. In 2019, an oceanographic mission conducted in the area, retrieved over 6000 hard plastic debris items > 5 cm.

Canadian clinical capacity for fetal alcohol spectrum disorder assessment, diagnosis, disclosure and support to children and adolescents: a cross-sectional study.

Objective: Canadian fetal alcohol spectrum disorder (FASD) guidelines encourage an age-specific interdisciplinary diagnostic approach. However, there is currently no standard-of-care regarding FASD diagnosis disclosure and few studies document Canadian FASD clinical capacity. Our objectives were to describe clinical capacity (defined as skills and resources) for FASD assessment, diagnosis, disclosure and support in Canada.

Identification and Quantification of Glucosinolates and Phenolics in a Large Panel of Highlight Valuable Genetic Resources for Chemical Ecology and Breeding.

Glucosinolate (GLS) and phenolic contents in contribute to biotic and abiotic stress responses. Breeding crop accessions harboring agroecologically relevant metabolic profiles require a characterization of the chemical diversity in germplasm. This work investigates the diversity of specialized metabolites in 281 accessions of .

Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations.

Background: Familial hypercholesterolemia (FH) is the most common genetic disorder associated with a high risk for premature atherosclerotic cardiovascular disease attributable to increased levels of LDL-cholesterol (LDL-C) from birth. FH is both underdiagnosed and undertreated.

Objective: We describe the clinical, biological, and genetic characteristics of 147 patients in France with clinical FH (including a group of 26 subjects aged < 20 years); we explore how best to detect patients with monogenic FH.

Microplastics and anthropogenic fibre concentrations in lakes reflect surrounding land use.

Pollution from microplastics and anthropogenic fibres threatens lakes, but we know little about what factors predict its accumulation. Lakes may be especially contaminated because of long water retention times and proximity to pollution sources. Here, we surveyed anthropogenic microparticles, i.

More than 1000 rivers account for 80% of global riverine plastic emissions into the ocean.

Plastic waste increasingly accumulates in the marine environment, but data on the distribution and quantification of riverine sources required for development of effective mitigation are limited. Our model approach includes geographically distributed data on plastic waste, land use, wind, precipitation, and rivers and calculates the probability for plastic waste to reach a river and subsequently the ocean. This probabilistic approach highlights regions that are likely to emit plastic into the ocean.

Concentration, anisotropic and apparent colour effects on optical reflectance properties of virgin and ocean-harvested plastics.

We present reflectance measurements collected from virgin and ocean-harvested plastics. Virgin plastics included high and low density polyethylene (HDPE, LDPE), polypropylene (PP) as well as polystyrene (PS). Ocean-harvested plastics were ropes, sheets, foam, pellets and fragmented items previously trawled from the North Pacific Garbage Patch.

Rodents as indicators of the climatic conditions during the Middle Pleistocene in the southwestern Mediterranean region: implications for the environment in which hominins lived.

Rodents are a very useful tool in reconstructing the environment of the past, especially owing to their rapid response to climate change, their small home range, and their restricted habitat requirements. They are a highly diverse group of mammals, which have high reproduction rates and as a result can evolve rapidly. The abundance of their microfossil remains in archaeological and paleontological sites permits robust statistical analyses to reconstruct the past climate and environment.