BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfun...BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfunction,and lead to chronic disability and premature death.Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes,suggesting defects in protein synthesis within the mitochondria.We here report a child with VARS2 gene mutations causing mitochondrial disease.CASE SUMMARY A girl,aged 3 years and 4 mo,had been unable to sit and crawl alone since birth,with obvious seizures and microcephaly.Brain magnetic resonance imaging showed symmetrical,flaky,long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow.T2 fluidattenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal.Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene,c.1163(exon11)C>T and c.1940(exon20)C>T,which was derived from the parents.The child was diagnosed with combined oxidative phosphorylation deficiency type 20.CONCLUSION In this patient,mitochondrial disorders including Leigh syndrome and MELAS syndrome(mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes)were ruled out,and combined oxidative phosphorylation deficiency type 20 was diagnosed,expanding the phenotypic spectrum of the disease.展开更多
随着当今科学技术的发展进步,人们进入人工智能时代,从而在足球场上诞生出 VARs 视频助理裁判。本文对在世界以及中国的大型足球赛事中使用 VARs 视频助理裁判的作用进行探讨,旨在对其在比赛中的运用效果、运用后场上人员关系的变化进...随着当今科学技术的发展进步,人们进入人工智能时代,从而在足球场上诞生出 VARs 视频助理裁判。本文对在世界以及中国的大型足球赛事中使用 VARs 视频助理裁判的作用进行探讨,旨在对其在比赛中的运用效果、运用后场上人员关系的变化进行分析,以及对未来在足球比赛中 VARs 视频助理裁判的发展前景做出展望。展开更多
文摘BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfunction,and lead to chronic disability and premature death.Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes,suggesting defects in protein synthesis within the mitochondria.We here report a child with VARS2 gene mutations causing mitochondrial disease.CASE SUMMARY A girl,aged 3 years and 4 mo,had been unable to sit and crawl alone since birth,with obvious seizures and microcephaly.Brain magnetic resonance imaging showed symmetrical,flaky,long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow.T2 fluidattenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal.Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene,c.1163(exon11)C>T and c.1940(exon20)C>T,which was derived from the parents.The child was diagnosed with combined oxidative phosphorylation deficiency type 20.CONCLUSION In this patient,mitochondrial disorders including Leigh syndrome and MELAS syndrome(mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes)were ruled out,and combined oxidative phosphorylation deficiency type 20 was diagnosed,expanding the phenotypic spectrum of the disease.
文摘随着当今科学技术的发展进步,人们进入人工智能时代,从而在足球场上诞生出 VARs 视频助理裁判。本文对在世界以及中国的大型足球赛事中使用 VARs 视频助理裁判的作用进行探讨,旨在对其在比赛中的运用效果、运用后场上人员关系的变化进行分析,以及对未来在足球比赛中 VARs 视频助理裁判的发展前景做出展望。
