Objective To evaluate the feasibility of endoscopic transoral-transpharyngeal approach to the upper cervical. Methods Anatomic characteristics were observed and measured in the anterior column of 50 dry atlas and axis specimens. Conventional and endoscopic methods to decompress the spinal cord and excise the cartilage surface of the atlantoaxial joint by transoral-transpharyngeal approach were taken respectively in two groups of cadaveric heads and necks. All the cadaveric specimens were then open dissected to evaluate endoscopic operation methods, decompression size and the "safe zone". Results The anterior arch of atlas was of a length of (19.8?2.3) mm, the height of odontoid was (15.9?1.9) mm, the width (10.5?0.6) mm, and the thickness (11.5?1.9) mm; the maximal transverse diameter of superior facet of axis was (15.1?1.6) mm, and the anteroposterior one was (17.7?1.3) mm. The anterior tubercle of the atlas could be acted as landmark leading to the endoscopic atlantoaxis surgery. The arch could be drilled either from the tubercle to the lateral side or broken from the junction to the lateral mass. Endoscopic odontoid dissection should begin at the apex of the odontoid, and proceed inferiorly. It was necessary to move or slope the working tube to explore atlantoaxial lateral joint and dissect its cartilage, but the width and depth of cartilage dissection should be limited to 12 mm and 10 mm in order to avoid damage to vertebral artery and spinal cord. Measurements after postoperative open dissection showed that endoscopic decompression size were not significantly different from that of conventional method. There was a "safe zone" in the front of atlantoaxis of transoral-transpharyngeal approach, with (45.9?3.6) mm wide and (29.4?2.5) mm high. Conclusion Endoscopic transoral-transpharyngeal approach to the upper cervical is technically feasible, which had a good exploration and could get the same decompressing size with conventional transoral-transpharyngeal approach.

Objective:To evaluate the curative efficacy of a buttress plate combined with Kirschner wires for treatment of Regan-Morrey type Ⅱ coronoid fracture after elbow terrible triad injury.Methods:A retrospective study was conducted of the 20 patients who had been surgically treated for Regan-Morrey type Ⅱ coronoid fracture after elbow terrible triad injury from August 2014 to August 2018 at Department of Pelvic Trauma, Henan Luoyang Orthopedic-Traumatological Hospital. They were 12 men and 8 women, aged from 18 to 60 years (average, 39 years), with 6 left and 14 right sides affected. All the coronoid fractures were fixated with Kirschner wires plus a buttress plate through the anterior approach, the radial head and lateral collateral ligaments (LCL) were repaired through the posterolateral approach, and the medial collateral ligament (MCL) was repaired or fixated with a hinged external fixator if necessary. The curative efficacy was evaluated at the last follow-up by range of motion (ROM) of the elbow, Mayo elbow performance score (MEPS), American Shoulder and Elbow Surgeons Scale (ASES) and radiographs of the elbow. Complications were also recorded.Results:The mean follow-up time was 18 months (from 12 to 24 months) and the mean healing time 5 months. At the last follow-up, ROM in flexion and extension of the affected elbow joint averaged 132.5°, ROM in elbow pronation-supination 150°, MEPS 88, and ASES 87. No subluxation or dislocation occurred after elbow surgery. The fracture of coronoid process was slightly displaced in one case but eventually healed without affecting any elbow function; fat liquefaction occurred around the posterolateral incision in 2 cases but healed after debridement; traumatic arthritic changes occurred in 5 patients but no significant dysfunction of the elbow was observed.Conclusion:A buttress plate combined with Kirschner wires can lead to fine curative efficacy for Regan-Morrey type Ⅱ coronoid fracture after elbow terrible triad injury.

Objective:To investigate the efficacy of a minimally invasive three-window incision and internal fixation with a novel anatomical locking plate in the treatment of calcaneal fractures.Methods:A retrospective analysis was performed of the 46 patients with calcaneal fracture (Sanders typeⅡ and Ⅲ) who had been admitted to Department of Orthopedics, Luoyang Orthopaedic Hospital of Henan Province from February 2015 to May 2017. They were 22 males and 24 females, aged from 19 to 59 years (average, 39.0 years) and with 16 left and 30 right sides affected. They were all treated with a minimally invasive three-window incision and internal fixation with a novel anatomic locking plate. Their B?hler and Gissane angles, and height, width and length of the calcaneus were compared between preoperation, immediate postoperation and the last follow-up. Their ankle-hindfoot functions were evaluated using the American Orthopaedic Foot and Ankle Society (AOFAS) scoring scale at the last follow-up; their complications were recorded.Results:All the 46 patients were followed up immediately after operation and for 14 to 18 months (mean, 16 months). All the fractures achieved bony union after an average of 3 months (from 2 to 4 months). At immediate postoperation and at the last follow-up, their calcaneal B?hler angles (34.20°±3.62° and 34.05°±3.65°) and Gissane angles (131.45°±6.04° and 131.25°±5.88°), and calcaneal heights [(41.05±2.76) mm and (40.90±2.86) mm], widths [(25.65±1.53) mm and (25.55±1.64) mm] and lengths [(76.82±1.70) mm and (76.73±1.78) mm] were significantly improved compared with the preoperative values [10.55°±7.51°, 95.32°±12.16°, (26.10±4.54) mm, (37.71±3.42) mm and (65.91±2.10) mm] ( P<0.05). There were no significant differences in the above indexes between immediate postoperation and the last follow-up ( P>0.05). According to AOFAS ankle-hindfoot scores at the last follow-up, the efficacy was evaluated as excellent in 28 cases, as good in 12 cases and as fair in 6 cases, yielding an excellent and good rate of 87.0%. No incision infection occurred after operation. Conclusion:In the treatment of calcaneal fractures of Sanders type Ⅱ and Ⅲ, the minimally invasive three-window incision and internal fixation with the novel calcaneal anatomical locking plate can achieve satisfactory reduction and rigid fixation, effectively reducing postoperative incision complications.

Objective:Osteosarcoma is a highly aggressive primary malignant bone tumor commonly seen in children and adolescents,with a poor prognosis.Anchorage-dependent cell death(anoikis)has been proven to be indispensable in tumor metastasis,regulating the migration and adhesion of tumor cells at the primary site.However,as a type of programmed cell death,anoikis is rarely studied in osteosarcoma,especially in the tumor immune microenvironment.This study aims to clarify prognostic value of anoikis and tumor immune microenvironment-related gene in the treatment of osteosarcoma. Methods:Anoikis-related genes(ANRGs)were obtained from GeneCards.Clinical information and ANRGs expression profiles of osteosarcoma patients were sourced from the therapeutically applicable research to generate effective therapies and Gene Expression Omnibus(GEO)databases.ANRGs highly associated with tumor immune microenvironment were identified by the estimate package and the weighted gene coexpression network analysis(WGCNA)algorithm.Machine learning algorithms were performed to construct long-term survival predictive strategy,each sample was divided into high-risk and low-risk subgroups,which was further verified in the GEO cohort.Finally,based on single-cell RNA-seq from the GEO database,analysis was done on the function of signature genes in the osteosarcoma tumor microenvironment. Results:A total of 51 hub ANRGs closely associated with the tumor microenvironment were identified,from which 3 genes(MERTK,BNIP3,S100A8)were selected to construct the prognostic model.Significant differences in immune cell activation and immune-related signaling pathways were observed between the high-risk and low-risk groups based on tumor microenvironment analysis(all P<0.05).Additionally,characteristic genes within the osteosarcoma microenvironment were identified in regulation of intercellular crosstalk through the GAS6-MERTK signaling pathway. Conclusion:The prognostic model based on ANRGs and tumor microenvironment demonstrate good predictive power and provide more personalized treatment options for patients with osteosarcoma.

Objective:To compare the curative effects between anatomic locking plate and common reconstruction plate in the treatment of acetabular posterior wall fracture.Methods:The 50 patients with acetabular posterior wall fracture were retrospectively analyzed who had been admitted to Department of Pelvic Trauma Surgery, Luoyang Orthopaedic Hospital of Henan Province from February 2015 to February 2020. They were assigned into 2 groups according to different internal fixation methods. In the reconstruction plate group of 24 patients whose fractures were fixated by a common reconstruction plate from February 2015 to June 2017, there were 21 males and 3 females with an age of (38.9±10.9) years. In the anatomical plate group of 26 patients whose fractures were fixated by an anatomic locking plate between July 2017 and February 2020, there were 20 males and 6 females with an age of (38.0±10.0) years. The 2 groups were compared in terms of operation time, intraoperative blood loss, reduction quality, hip function and complications at the last follow-up.Results:There was no significant difference in the preoperative general data between the 2 groups, indicating the 2 groups were comparable ( P>0.05). The 50 patients were followed up for 18 to 26 months (mean, 22 months). The operation time [(132.8±8.6) min] and intraoperative blood loss [(357.0±14.7) mL] in the anatomic plate group were significantly less than those [(177.2±5.9) min and (492.0±17.6) mL] in the reconstruction plate group( P<0.05). Postoperative CT examination showed that 96.2% (25/26) of the patients in the anatomical plate group and 91.7% (22/24) of the patients in the reconstruction plate group had a fracture step ≤3 mm, showing no significant difference ( P>0.05). At the last follow-up, the excellent and good rate by Harris hip score was 92.3% (24/26) in the anatomic plate group, significantly higher than that (66.7%, 16/24) in the reconstruction plate group ( P<0.05). The incidence of complications was 3.8% (1/26) in the anatomic plate group, significantly lower than that [29.2% (7/24)] in the reconstruction plate group ( P<0.05). Conclusion:Anatomical locking plate is better than common reconstruction plate in the treatment of acetabular posterior wall fracture.

OBJECTIVETo evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age.

METHODSA total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed. And the relationship between maternal age and fetal common chromosomal aneuploidy was analyzed.

RESULTSThe sensitivity, specificity, positive and negative predictive value of NIPS were 100.00%, 99.96%, 91.67%, 100.00% for trisomy 21, 100.00%, 99.93%, 68.18%, 100.00% for trisomy 18, and 100.00%, 99.97%, 25.00%, 100.00% for trisomy 13. High-risk rate and true positive rate of trisomy 21 were positively correlated with the maternal age (all<0.01). There were significant differences in high-risk rate and true positive rate between 35-37 year old groups and 38-40 year old groups (all<0.05). Such difference was also found in high-risk rate between 38-40 year old group and ≥ 41 year old group (<0.05), but not in true positive rate between two groups (>0.05).

CONCLUSIONSNIPS is effective for fetal chromosomal aneuploidy screening in women of advanced maternal age. For women under 38 years of age, NIPS is preferred; for women of 41 and above, invasive diagnostic methods are suggested; and for women between 38-41 years old, the option can be determined by themselves after risks and advantages were fully informed.

The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.
Anodontia/genetics* ; Humans ; MSX1 Transcription Factor/genetics* ; Pedigree ; Whole Exome Sequencing