Objective To evaluate the outcome of unconstrained shoulder arthroplasty in treatment of se- vere damages of shoulder and proximal humerus.Methods Eleven cases of unconstrained shoulder arthroplasty were carried out in our department from 1999 to 2004.The average age of the 11 patients was 65 years.Nine cases underwent hemi-arthroplasty for their complex fractures of proximal humerus with unstrained protheses and two cases received total shoulder arthroplasty for their shoulder osteoarthritis.Cemented prostheses were used in all the cases. Results Follow-ups averaged 2.3 years.Two cases of four-part fractures reported slight pain and limited external rotation of the shoulder after operation,while there was no pain or loosening of prosthesis in all the other cases who recovered full range of motion.Conclusion Unconstrained shoulder arthroplasty is a satisfactory and safe tech- nique for severe damages of proximal humerus.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People's Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). A GTX genetic analysis system was used to analyze the WES data and screen candidate variants for ASD. Candidate variant was verified by Sanger sequencing and bioinformatics analysis. Real-time fluorescent quantitative PCR (qPCR) was carried out to compare the expression of mRNA of the NSD1 gene between this child and 3 healthy controls and 5 other children with ASD. RESULTS: The patient, an 8-year-old male, has manifested with ASD, mental retardation and CHD. WES analysis revealed that he has harbored a heterozygous c.3385+2T>C variant in the NSD1 gene, which may affect the function of its protein product. Sanger sequencing showed that neither of his parent has carried the same variant. By bioinformatic analysis, the variant has not been recorded in the ESP, 1000 Genomes and ExAC databases. Analysis with Mutation Taster online software indicated it to be disease causing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. By qPCR analysis, the expression level of mRNA of the NSD1 gene in this child and 5 other children with ASD was significantly lower than that of the healthy controls (P < 0.001). CONCLUSION The c.3385+2T>C variant of the NSD1 gene can significantly reduce its expression, which may predispose to ASD. Above finding has enriched the mutational spectrum the NSD1 gene.
Male ; Child ; Humans ; Autism Spectrum Disorder/genetics* ; Heart Defects, Congenital/genetics* ; Computational Biology ; Genomics ; Mutation ; RNA, Messenger/genetics* ; Histone-Lysine N-Methyltransferase/genetics*