Multilingualism impacts children's executive function and core autism symptoms.

Autism spectrum disorder (ASD) is associated with marked heterogeneity in executive function (EF) abilities. EF components including inhibition and shifting are related to ASD core symptoms such as perspective taking, social communication, and repetitive behavior. Recent research suggests that multilingualism may have a beneficial impact on EF abilities, especially in children with ASD.

Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.

Unlabelled: Familial hyperlysinemia is a rare autosomal recessive disorder due to defects of the AASS (α-aminoadipate δ-semialdehyde synthase) gene, which encodes for a bifunctional enzyme. Two types of hyperlysinemia have been identified namely type 1, due to the deficit of the alfa-ketoglutarate activity, and type 2, due to the deficit of the saccharopine dehydrogenase activity.

Methods: To better characterize the phenotypic spectrum of familial hyperlysinemia type 1, we conducted a systematic review of cases in the literature following PRISMA guidelines.

The lactate receptor HCAR1: A key modulator of epileptic seizure activity.

Epilepsy affects millions globally with a significant portion exhibiting pharmacoresistance. Abnormal neuronal activity elevates brain lactate levels, which prompted the exploration of its receptor, the hydroxycarboxylic acid receptor 1 (HCAR1) known to downmodulate neuronal activity in physiological conditions. This study revealed that HCAR1-deficient mice (HCAR1-KO) exhibited lowered seizure thresholds, and increased severity and duration compared to wild-type mice.

Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer.

Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance.