Abstract To improve the crashworthiness and energy absorption of thin-walled tube structures, a bionic thin-walled tube was designed based on the structural characteristics of antler osteon and the principle of structural bionics and had the same inner and outer diameters and the same gradient thickness as antler osteon. A nonlinear finite element method is used to simulate the crashworthiness of a thin-walled tube with equal gradient thickness variation (EGTTS) under axial and oblique loads. The crashworthiness of EGTTS-7 (Egtts with 7 layers) was evaluated using the complex proportional assessment(COPRAS). A multi-objective particle swarm optimization (MOPSO) algorithm was used to optimize the EGTTS-7 and the Pareto boundary was used to obtain the optimal structure parameters of the EGTTS-7 by using the loading angles of 0°, 10°, 20°, and 30°. It is found that the crashworthiness of the EGTTS is best when the axial load weight factor of the case is large. Compared with EGTTS and circular tubes(CT), F max can be reduced by up to 50.1% and EA can be increased by up to 22.7%.
Abstract Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones. Over 70% of HME cases arise from monoallelic mutations in either of the two genes encoding the heparan sulfate (HS) synthesis enzymes, ext1 and ext2. To identify more HME-associated mutations, genomic DNA from members of five independent consanguineous families with HME was sequenced with whole exome sequencing (WES). A novel heterozygous splice site mutation (c.1173+2T>A) in ext2 was detected in all three affected members of family V. Further study showed that the novel mutation caused exon 7 of ext2 mRNA to be skipped during splicing and caused a frameshift after the codon for Arg360, which results in the appearance of new 43 codons, followed by a termination codon. Although the resulting truncated protein was still localized to the Golgi, similar to the full-length EXT2, its HS synthesis activity decreased by 40%. In this study, a novel splice site mutation in ext2 was identified and suggested to be a pathogenic mutation of HME, which may expand the genetic etiology spectrum of HME and may be helpful for clinical genetic counseling and prenatal diagnosis.