Longitudinal effects of elexacaftor/tezacaftor/ivacaftor on the oropharyngeal metagenome in adolescents with cystic fibrosis.

Background: Triple modulator therapy elexacaftor/tezacaftor/ivacaftor (ETI) improves lung function and impacts upon the respiratory microbiome in people with Cystic fibrosis (pwCF) with advanced lung disease. However, adolescents with cystic fibrosis (CF) are less colonized with bacterial pathogens than adult pwCF but their microbiota already differs from healthy individuals. The aim of this study was to longitudinally analyze the impact of ETI on the respiratory metagenome in adolescents with predominantly mild CF lung disease.

Performance increases in mathematics during COVID-19 pandemic distance learning in Austria: Evidence from an intelligent tutoring system for mathematics.

Background: In 2020, school closures during the COVID-19 pandemic forced students all over the world to promptly alter their learning routines from in-person to distance learning. However, so far, only a limited number of studies from a few countries investigated whether school closures affected students' performance within intelligent tutoring system-such as intelligent tutoring systems.

Method: In this study, we investigated the effect of school closures in Austria by evaluating data (n = 168 students) derived from an intelligent tutoring system for learning mathematics, which students used before and during the first period of school closures.

Evaluating students' engagement with an online learning environment during and after COVID-19 related school closures: A survival analysis approach.

Background: Due to the COVID-19 pandemic schools all over the world were closed and thereby students had to be instructed from distance. Consequently, the use of online learning environments for online distance learning increased massively. However, the perseverance of using online learning environments during and after school closures remains to be investigated.

Site-specific interrogation of an ionic chiral fragment during photolysis using an X-ray free-electron laser.

Short-wavelength free-electron lasers with their ultrashort pulses at high intensities have originated new approaches for tracking molecular dynamics from the vista of specific sites. X-ray pump X-ray probe schemes even allow to address individual atomic constituents with a 'trigger'-event that preludes the subsequent molecular dynamics while being able to selectively probe the evolving structure with a time-delayed second X-ray pulse. Here, we use a linearly polarized X-ray photon to trigger the photolysis of a prototypical chiral molecule, namely trifluoromethyloxirane (CHFO), at the fluorine K-edge at around 700 eV.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and mutated in Heimler syndrome.

Background: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).

Methods: Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome.

Results: A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively.

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Introduction: Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of peripheral neuropathies. In addition to the classical clinical phenotype, additional features can occur.

Methods: We studied a wide range of additional features in a cohort of 49 genetically confirmed CMT patients and performed a systematic literature revision.