Intracoronary Tissue Plasminogen Activator Therapy to Treat Thrombotic Occlusion of a Giant Coronary Aneurysm in Early Kawasaki Disease.

Kawasaki Disease (KD) is a systemic vasculitis that can lead to coronary artery aneurysms (CAA) in up to 10% of treated cases, significantly increasing the risk of thrombosis and acute myocardial infarction (AMI). While thrombolytic therapy is commonly used in adult coronary syndromes, its application in pediatric KD remains poorly studied. We report a 9-month-old infant with KD and giant CAA complicated by a subocclusive thrombus in the left anterior descending artery (LAD).

Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.

Germline gain of function variations in the AKT3 gene cause brain overgrowth syndrome with megalencephaly and diffuse bilateral cortical malformations. Here we report a child with megalencephaly, who is a carrier of a novel heterozygous missense variant in the AKT3 gene NM_005465.7:c.

Single-nucleotide polymorphism profiling by multimodal-targeted next-generation sequencing in methotrexate-resistant and -sensitive human osteosarcoma cell lines.

Methotrexate (MTX) is one of the most important drugs included in the first-line protocols to treat high-grade osteosarcoma (HGOS). Although several polymorphisms have been reported to be associated with drug response or MTX-related toxicity in pharmacogenetic studies, their role in the development of MTX resistance in HGOS is still unclear. Therefore, in this study, 22 single nucleotide polymorphisms (SNPs) in 4 genes of the folate metabolism, 7 MTX transporter genes, and 2 SNPs of the tumor protein p53 () gene were investigated using a custom multimodal-targeted next-generation sequencing (mmNGS) approach in 8 MTX-resistant and 12 MTX-sensitive human HGOS cell lines.

Identification of factors associated with the management of childhood obesity: Results from a French pediatric cohort study.

Backgrounds: Childhood obesity is a real public health concern because of its association with a higher risk of adulthood obesity and comorbidities (metabolic, cardiovascular, etc.). The factors associated with the effectiveness of care are poorly described.