Publications by authors named "L Lebreton"
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.
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- Holocarboxylase synthase (HCS) deficiency is a rare metabolic disorder that often shows severe symptoms in newborns, but this report discusses late-onset cases in two siblings.
- The younger sister displayed symptoms at 11 years, which improved with treatment, and genetic testing identified a new mutation related to her condition.
- The older brother was diagnosed at 23 without prior metabolic crises, highlighting the disorder's complexity and the need for metabolic evaluations in older individuals experiencing unexplained metabolic acidosis.
Article Synopsis
- * A new case of NKH was identified involving a child with a unique genetic variant in the GLRX5 gene that led to significant neurological problems, confirmed through MRI and cerebrospinal fluid analysis.
- * The child, who experienced a rapid decline in health, passed away at four months old, demonstrating that this case was more severe than previously documented instances of GLRX5-related NKH, emphasizing the importance of genetic factors in the disorder's severity and symptoms.
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.
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- Alpha-thalassaemia alleles are common globally, primarily due to large deletions that result in the loss of one or two alpha genes.
- A rarer condition involves the gain of alpha genes, leading to excess alpha-globin chains, which can worsen beta-thalassaemia traits into a non-transfusion-dependent phenotype.
- A young girl was reported with a unique combination of a heterozygous beta-thalassaemia mutation and both a gain of alpha-globin copies and -alpha 3.7 deletion on the same allele, marking a novel case in the literature.