Functional and comparative analysis of the Fe/2-oxoglutarate-dependent dioxygenases without using any substrate.

Non-haem iron (Fe) and 2-oxoglutarate(2OG)-dependent dioxygenases catalyse various biological reactions. These enzymes couple the oxidative decarboxylation of 2OG to the hydroxylation of the substrates. While some of these enzymes are reported to have multiple substrates, the substrate remains unknown for many of the enzymes.

COVID-19 Serostatus Does Not Affect the Intrauterine Transfer of Micronutrients and Fatty Acids or Maternal-fetal Lymphocyte Cell Composition: An Observational Study.

Objective:  Studies on the effects of coronavirus disease 2019 (COVID-19) on pregnant mothers and their newborns, specifically in relation to their micronutrient status, fatty acids (FAs), and inflammatory status are sparse. We hypothesized that COVID-19 infection would adversely affect the transfer of nutrients, and FAs from mothers to their fetuses via the umbilical cord and maternal-fetal distribution of inflammatory cells. This study aimed to determine the effect of COVID-19 on micronutrients, inflammatory markers, and FAs profiles in pregnant mothers and their newborns' cord blood.

One-year risk of multiple sclerosis after a first episode of optic neuritis according to modern diagnosis criteria.

Purpose: The last updates to diagnostic criteria for multiple sclerosis (MS) included a diagnostic category of 'possible MS'. However, no recent data is available to assess how much this distinction helps predict MS after isolated optic neuritis (ON). This study aimed to assess the global risk of developing MS one year after a first ON episode, and the specific risk according to the initial diagnosis of isolated ON or ON with possible MS.

The phenotypic spectrum of gene variants.

Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported.