The genetic architecture of protein stability.

There are more ways to synthesize a 100-amino acid (aa) protein (20) than there are atoms in the universe. Only a very small fraction of such a vast sequence space can ever be experimentally or computationally surveyed. Deep neural networks are increasingly being used to navigate high-dimensional sequence spaces.

The COVID-19 Pandemic Led to a Small Increase in Changed Mentality Regarding Infection Risk without Any Change in Willingness to Be Vaccinated in Chronic Diseases Patients.

The objective of this study was to assess the impact of the COVID-19 pandemic on patients' perceptions regarding infection risk and vaccination in subjects suffering from chronic diseases. A prospective observational multicentric study conducted from December 2020 to April 2021 in three French University Hospitals. Patients with chronic diseases were proposed to complete a questionnaire regarding the impact of the COVID-19 pandemic on infectious risk knowledge and vaccination.

New recessive mutations in causing severe presynaptic congenital myasthenic syndromes.

Objective: To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 () gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs).

Methods: Next-generation sequencing identified new homozygous intronic and frameshift mutations in the gene as a likely cause of presynaptic CMS. We describe the clinical and electromyographic patient phenotypes, perform ex vivo splicing analyses to characterize the effect of the intronic mutation on exon splicing, and analyze the functional impact of this variation at the neuromuscular junction (NMJ).

International Triadin Knockout Syndrome Registry.

Background: Triadin knockout syndrome (TKOS) is a rare, inherited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin. Based previously on 5 triadin null patients, TKOS has been characterized by extensive T-wave inversions, transient QT prolongation, and severe disease expression of exercise-induced cardiac arrest in early childhood refractory to conventional therapy.

Methods: We have established the International Triadin Knockout Syndrome Registry to include patients who have genetically proven homozygous/compound heterozygous TRDN null mutations.

Relevance of Lipid-Based Products in the Management of Dry Eye Disease.

Components of the ocular surface synergistically contribute to maintaining and protecting a smooth refractive layer to facilitate the optimal transmission of light. At the air-water interface, the tear film lipid layer (TFLL), a mixture of lipids and proteins, plays a key role in tear surface tension and is important for the physiological hydration of the ocular surface and for ocular homeostasis. Alterations in tear fluid rheology, differences in lipid composition, or downregulation of specific tear proteins are found in most types of ocular surface disease, including dry eye disease (DED).

Place preferences of Japanese quail given a permanent choice between a social or a non-social but enriched situation.

Japanese quail from two lines selected for high (HSR) or low (LSR) levels of social reinstatement behaviour were permanently placed from 2 days to 6 weeks of age in a situation where one tested animal had the choice between being in social contact with a stimulus animal in a bare compartment of the cage or out of visual contact with the stimulus animal in a relatively rich environment containing food, water and wood shavings. The young (1 or 2 weeks of age) quails spent most of their time (over 80%) in the social compartment, about 10% feeding and drinking, and about 10% performing other activities in the non-social compartment. Hardly any differences appeared between the two lines when 1 or 2 weeks old, but at 4 weeks of age the LSR quails started to decrease the time spent in the social compartment and this phenomenon only appeared at 6 weeks of age and to a lesser extent in the HSR quails.