Objective? To explore the correlation among muscle strength, muscle mass, muscle function and cognitive function of old people in a community in Beijing. Methods? From April 2018 to October 2018, we selected 192 elderly people aged 60 or over in a community in Beijing. Muscle strength was evaluated with the CAMRY electronic handgrip strength instrument EH101; mass of limb skeletal muscle was measured with body fat scale to calculate the relative skeletal muscle index (RSMI) of limbs; muscle function was measured with the 4-m walk test; cognitive function was assessed with the Mini-Mental State Examination (MMSE). SPSS 20.0 was used to data statistics. Results? Among 192 subjects, the incidences of mild and medium cognitive impairment were 65.62%(126/192) and 12.50%(24/192) respectively. Spearman correlation analysis showed that muscle strength, muscle mass and muscle function had correlations with cognitive function with statistical differences (r=0.384, 0.215, 0.458;P＜ 0.05). Muscle strength and muscle mass had strong statistical correlations with attention of cognition (r=0.319, 0.229;P＜ 0.05). Muscle function had strong statistical correlation with linguistic competence (r=0.392, P＜0.05). Muscle strength, muscle mass and muscle function all had correlations with attention as well as linguistic competence with statistical differences (P＜0.05). Taking whether cognitive function was normal or not as dependent variable, Logistic regression analysis showed that the influencing factors of cognitive function were ages, body mass index (BMI), body fat rate and RSMI. Conclusions? Muscle strength, muscle mass and muscle function had positive correlations with cognitive function among elderly people.

Objective To analyze the genetic etiology of a fetus with growth restriction,short long bones,small head circumference and enhanced kidney echoes,and explore the clinical significance of nonsense mutations in the NIPBL gene.Methods The clinical data of the fetus and his/her parents were collected.The variation sites of the NIPBL gene were verified by the chromosome karyotype a-nalysis of amniotic fluid,copy number variation detection in the human genome(CNV-seq),whole exome sequencing(WES)and Sanger sequencing.The databases such as China National Knowledge Infrastructure(CNKI),Wanfang Data,Wanfang Medical,and Pubmed were searched to further analyze the relationship between clinical symptoms and gene mutation sites in the fetus.Results The sequencing results showed that there was c.4555A>T heterozygous mutation in exon 21 of the NIPBL gene in the fetus,and that the same mutation was not detected in his/her parents.The above variation had not been included in databases such as Human Exon Data-base(ExAC),1000 genomes(1000G)and Genome Aggregation Database(gnomAD),and were comprehensively judged as harmful variation.Conclusion The detection of the nonsense variation,c.4555A>T(p.Lys1519?),in the NIPBL gene may provide experi-mental evidence for the prenatal diagnosis and fertility in this family.

Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequenc-ing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromo-some ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seem-ingly random locations at a frequency of 0％-2.5％per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells dur-ing development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of trans-ferring chromosomal mosaic embryos in certain situations.