De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

The effect of prosthetic alignment on lower limb kinetics in people with a transtibial bone-anchored prosthesis: An experimental within-subject study.

Background: The alignment of a bone-anchored prosthesis has consequences for the external moments around the residual joints and implant, and these external moments can lead to serious negative long-term effects. A clear understanding of the relationship between transtibial prosthetic alignment and external joint and implant moment for bone-anchored prosthetic users is still lacking.

Research Question: What is the effect of systematic frontal plane prosthetic alignment changes on lower limb external joint moments in people with a transtibial bone-anchored prosthesis?

Methods: Participants underwent gait analysis on an instrumented dual belt treadmill.

Mapping Trajectories of Gait Recovery in Clinical Stroke Rehabilitation.

Background: How gait changes during the early stages of stoke rehabilitation, and which patient characteristics are associated with these changes is still largely unknown.

Objective: he first objective was to describe the changes in gait during stroke rehabilitation. Secondly, we determined how various patient characteristics were associated with the rate of change of gait over time.

Learning from post-COVID-19 condition for epidemic preparedness: a variable catalogue for future post-acute infection syndromes.

Scope: The emergence of post-COVID-19 condition (PCC) after SARS-CoV-2 infection underscores the critical need for preparedness in addressing future post-acute infection syndromes (PAIS), particularly those linked to epidemic outbreaks. The lack of standardized clinical and epidemiological data during the COVID-19 pandemic has significantly hindered timely diagnosis and effective treatment of PCC, highlighting the necessity of pre-emptively standardizing data collection in clinical studies to better define and manage future PAIS. In response, the Cohort Coordination Board, a consortium of European-funded COVID-19 research projects, has reviewed data from PCC studies conducted by its members.

Balance training in older adults enhances feedback control after perturbations.

Background: As we age, avoiding falls becomes increasingly challenging. While balance training can mitigate such challenges, the specific mechanisms through which balance control improves remains unclear.

Methods: We investigated the impact of balance training in older adults on feedback control after perturbations, focusing on kinematic balance recovery strategies and muscle synergy activation.