A new perspective on drug-resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome.

Objective: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes.

Methods: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features.

Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

MEDNIK syndrome is a rare autosomal recessive disease characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, and caused by variants in the adaptor-related protein complex 1 subunit sigma 1 (AP1S1) gene. This gene encodes the σ1A protein, which is a subunit of the adaptor protein complex 1 (AP-1), a key component of the intracellular protein trafficking machinery. Previous work identified three AP1S1 nonsense, frameshift and splice-site variants in MEDNIK patients predicted to encode truncated σ1A proteins, with consequent AP-1 dysfunction.

Minimal transcriptional regulation of horizontally transferred photosynthesis genes in phototrophic bacterium .

Unlabelled: The first phototrophic member of the bacterial phylum , AP64, received all its photosynthesis genes via distant horizontal gene transfer from a purple bacterium. Here, we investigated how these acquired genes, which are tightly controlled by oxygen and light in the ancestor, are integrated into the regulatory system of its new host. grew well under aerobic and semiaerobic conditions, with almost no difference in gene expression.

Femtosecond Stimulated Raman Spectroscopy of Linear Carotenoids.

Femtosecond stimulated Raman spectroscopy (FSRS) and transient absorption data measured in a single experiment are used to determine the vibronic properties of the S state of linear carotenoids with different conjugation lengths. The Raman band corresponding to the C═C stretching mode in the S state peaks at 1799 cm (neurosporene), 1802 cm (spheroidene), and 1791 cm (lycopene). Contrary to the ground state C═C mode, variation of the C═C stretching mode in the S state is small and does not follow a linear dependence on .

Response of aerobic anoxygenic phototrophic bacteria to limitation and availability of organic carbon.

Aerobic anoxygenic phototrophic (AAP) bacteria are an important component of freshwater bacterioplankton. They can support their heterotrophic metabolism with energy from light, enhancing their growth efficiency. Based on results from cultures, it was hypothesized that photoheterotrophy provides an advantage under carbon limitation and facilitates access to recalcitrant or low-energy carbon sources.