Objective To investigate the incidence and associated factors of rotator cuff injuries in patients surgically treated for proximal humerus fracture.Methods A retrospective investigation was conducted in the patients over 40 years old who had been surgically treated for proximal humeral fracture from April 10th 2017 to December 1st 2017 at Department of Traumatic Orthopaedics,Beijing Jishuitan Hospital.Intraoperative direct visualization was used to collect their clinical data concerning rotator cuff injuries in combination with proximal humeral fracture.All the data were analyzed to find the incidence,gender ratio,age distribution and fracture type distribution concerning rotator cuff injuries.Results A total of 143 eligible patients were included in this investigation.Their average age was 61.95 years and their male-female ratio 1:2.3.The incidence was 46.2％ (66/143) for all the rotator cuff injuries in proximal humerus fracture and 23.1％ (33/143) just for rotator cuff tears.There were no significant differences in age,male to female ratio or distribution of Neer fracture type between patients with rotator cuff injury and those without rotator cuff injury (P ＞ 0.05).There was no significant difference in the age and or distribution of Neer fracture type between patients with rotator cuff tear and patients without rotator cuff tear (P ＞ 0.05).The proportion of females in patients with rotator cuff tears (84.8％,28/33) was significantly higher than that in patients with no rotator cuff tears (63.6％,21/33) (P ＜ 0.05).There was no significant difference between different age groups of the patients in incidence of combined rotator cuff injury (P ＞ 0.05).Conclusions Concomitant rotator cuff injuries are relatively common in patients over 40 years old with a proximal humerus fracture.About half of the injuries may be simple wear or wear plus degeneration while the other half rotator cuff tear happening mostly in female patients.The incidence of concomitant rotator cuff injury may increase with the age of the patients with a proximal humerus fracture.

Objective:To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).Methods:Two MRD49 pedigrees which were admitted to the Children′s Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed. Genomic DNA was extracted from peripheral blood samples of the probands and their family members. The probands were subjected to mutational analysis by high-throughput sequencing. Candidate variants were validated using real-time fluorescence quantitative PCR (q-PCR) or Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Shandong University (No. SDFE-IRB/T-2022002).Results:Proband 1 had presented with language delay, motor retardation and intellectual disability, and his maternal grandmother, mother, aunt and cousin all had various degrees of intellectual disability. Sequencing results showed that proband 1 had deletion of exons 3 ~ 7 of the TRIP12 gene. q-PCR verification showed that his mother, aunt, maternal grandmother and cousin had all harbored the same deletion. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PP1). Proband 2, who had mainly presented with language delay, motor retardation and intellectual disability, and was found to harbor a heterozygous c.3010C>T (p.Arg1004*) variant of the TRIP12 gene, which was verified to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.