Optimization of the felge on parallel bars

The felge, or undersomersault, on parallel bars has become an important skill in men's artistic gymnastics as it forms the basis of many complex variations. To receive no deductions from the judges, the felge must be performed without demonstrating the use of strength to achieve the final handstand position. Two male gymnasts each performed nine trials of the felge from handstand to handstand while data were recorded using an automatic motion capture system. The highest and lowest scoring trials of each gymnast, as determined by four international judges, were chosen for further analysis. The technique used by each gymnast was optimized using a computer simulation model so that the final handstand position could be achieved with straight arms. Two separate optimizations found different techniques identified in the coaching literature that are used by gymnasts. Optimum simulations resulted in improved performances through a combination of increased vertical velocity and height of the mass centre at release. Although the optimum technique found close to the gymnasts' own technique was more demanding in terms of the strength required, it offered the potential for more consistent performance and future developments in skill complexity

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Purpose: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). Methods: Following next-generation sequencing and clinical phenotyping, functional characterization was performed in patients’ fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics. Results: All patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients’ fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Conclusion: Heterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts