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.

OBJECTIVE To explore the improvement effect of rape pollen on androgenic alopecia mice and its mechanism. METHODS The blank group, model group, positive drug group and administration group were set up, the androgenic alopecia mice model was induced by applying 0.2% testosterone after hair removal. The hair growth rate of mice were observed by using 5% minoxidil as positive drug and 0.4 g·mL-1 rape pollen oil solution as administration group. The hair quality and follicle condition of mice were observed by scanning electron microscope(SEM) and HE staining of skin tissue, respectively. The level of VEGF and bFGF in skin were detected by immunofluorescence staining and Western blotting, while the level of serum sex hormones and reactive oxygen species were detected by ELISA. RESULTS Rape pollen could significantly promote the hair growth in mice and improve the state of mice hair scales compared with model group. Mechanism exploration experiments showed that rape pollen could not promote hair regeneration of mice by regulating hormone levels or anti-oxidative stress. However, rape pollen could increase the expression of bFGF and VEGF related to skin angiogenesis at the modeling site. CONCLUSION Rape pollen can promote hair regeneration in androgenic alopecia mice. Its mechanism may be that it promotes perifollicular vascular regeneration by increasing bFGF and VEGF level.

Inflammatory bowel disease, mainly including Crohn′s disease and ulcerative colitis, is a chronic non-specific intestinal inflammatory disease. The precision diagnosis and treatment is to take specific treatment measures for patients with different subtypes and stages of disease to achieve better prognosis, and is important for the diagnosis and treatment of IBD. Confocal laser endomicroscopy (CLE) is a small field imaging technology of endoscope, leading to real-time visualization of mucosal abnormalities and effect of histological examination in vivo. CLE plays unique role in diagnosis and differential diagnosis of IBD, evaluation of inflammation grading, prediction of relapse and monitoring of mucosal dysplasia. This article summarizes the application of CLE in the precision diagnosis and treatment of IBD.

Inflammatory bowel disease, mainly including Crohn′s disease and ulcerative colitis, is a chronic non-specific intestinal inflammatory disease. The precision diagnosis and treatment is to take specific treatment measures for patients with different subtypes and stages of disease to achieve better prognosis, and is important for the diagnosis and treatment of IBD. Confocal laser endomicroscopy (CLE) is a small field imaging technology of endoscope, leading to real-time visualization of mucosal abnormalities and effect of histological examination in vivo. CLE plays unique role in diagnosis and differential diagnosis of IBD, evaluation of inflammation grading, prediction of relapse and monitoring of mucosal dysplasia. This article summarizes the application of CLE in the precision diagnosis and treatment of IBD.

Objective: To investigate expert opinions on the recommendations in Expert Consensus on Optimized Treatments of Ankle Fracture in Light of Enhanced Recovery after Surgery and Expert Consensus on Optimized Treatments of Distal Radius Fracture in Light of Enhanced Recovery after Surgery so as to provide a reference for orthopaedic surgeons when they refer to the 2 documents. Methods: At the symposium in November 2018, all members of Orthopaedic Trauma Committee of Bethune Public Welfare Foundation were interviewed through questionnaires. The questionnaires involved 30 recommendations from the 2 documents concerning optimized perioperative managements. The rates of recommendation and strong recommendation by these experts were calculated about the 30 recommendations from the 2 above documents. Results: A total of 68 experts from the 89 members of Orthopaedic Trauma Committee of Bethune Public Welfare Foundation finished the questionnaires. Of the 30 recommendations, 26 obtained recommendation from these experts at a rate of above 95%, and 4 recommendation from these experts at a rate from 80% to 90%. The rates of strong recommendation were not high, ranging from 60% to 80% in 26 recommendations and <60% in 4. Conclusions The recommendations from the above 2 documents have been highly agreed upon by these experts we investigated but obtained a relatively low rate of strong recommendation. The present investigation may serve as a significant complement for recommendations from the 2 documents of expert consensus and a necessary reference for orthopaedic surgeons.