Objective To evaluate the individualized 3D) printed drilling guide we developed and used for placement of C1/2 pedicle screws in the clinical treatment of fracture and dislocation of the atlantoaxial joint.Methods From January 2014 to June 2016,we treated a total of 17 patients with fracture and dislocation of the atlantoaxial joint.All the cervical CT data of the patients were imported into the digital orthopaedic workstation for 3D reconstruction,data modeling and 3D printing to design and manufacture individualized atlantoaxial vertebral guide templates.Intraoperatively,C1 and C2 pedicle screws were placed under the guide of individualized 3D printed drilling template.Cervical short-segment fixation and fusion were conducted for the patients.Postoperatively,regular clinical and radiographic follow-ups were carried out.Results No serious complications like injury to spinal cord and vertebral artery happened due to failed placement of C1/2 pedicle screws.The operation time ranged from 136 to 222 min (average,168.0 rmin);the intraoperative blood loss ranged from 260 to 556 mL (average,356.0 mL).The 17 patients were followed up for 6 to 36 months (average,13.5 months).The patients obtained bony union after 4 to 6 months (average,4.8 months).At the final follow-up,according to ASIA92 scoring system,the average sensory score was improved significantly from preoperative 7.4 + 3.2 to postoperative 13.1 + 5.9,and the average motor score was improved significantly from preoperative 5.3 + 3.1 to postoperative 11.7 + 5.1 (P ＜ 0.05).No such complications as infection or implant failure occurred after operation.Conclusion Individualized 3D printed drilling guide for implantation of atlantoaxial pedicle screws can make the complicate and risky placement become accurate,safe and simple.

OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. CONCLUSION The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child ; Female ; Genetic Variation ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa ; genetics ; Night Blindness ; etiology ; Pedigree ; Phenotype ; Usher Syndromes ; genetics ; pathology

Objective To compare arthroscopic double-row bridging suture and minimally invasive locking plate system in the treatment of simple avulsion fracture of humeral greater tuberosity.Methods A retrospective study was conducted of the 93 patients with avulsion fracture of humeral greater tuberosity who had been treated at Orthopaedic Center,Beijing Luhe Hospital from January 2012 to December 2016.Of them,38 were treated by arthroscopic double-row bridging suture (ADRB) and 55 by open reduction and internal fixation with minimally invasive locking plate system (MIPS).Regular X-ray follow-ups were carried out at 3,6 and 12 months postoperatively and every 6 months afterwards.Surgical time,range of motion (ROM) of the shoulder,American Shoulder and Elbow Surgeons (ASES) score,Visual Analogue Scale (VAS) and complications were recorded preoperatively and at the last follow-up.Results The patients of the arthroscopy and plate groups were comparable because there were no significant differences in the preoperative general data between them (P ＞ 0.05).The average follow-up time for the 93 patients was 35.9months (from 12 to 60 months).The operation time for the arthroscopy group (97.0 ± 20.1 min) was significantly longer than that for the plate group (67.5 ± 19.0 min) (P ＜ 0.05).At the last follow-up,anteflexion lift (152.6° ± 12.9°),abduction lift (154.0° ± 13.5°) and internal rotation angle at 90° (57.7° ±12.2°) in the arthroscopy group were significantly better than those in the plate group (134.9° ± 17.8°,129.5° ± 18.6° and 50.8° ± 12.9°,respectively) (P ＜ 0.05).At the last follow-up,the ASES scores for the arthroscopy and plate groups were 88.5 ± 7.6 and 85.1 ± 11.3,respectively,showing no statistically significant difference (P ＞ 0.05);the VAS scores for the 2 groups were 1.5 ± 1.2 and 2.2 ± 1.5 respectively,showing a statistically significant difference between the 2 groups (P ＜ 0.05).There was no significant difference between the2 groups in improvement of ASES scores (P ＞ 0.05).Ninety fractures healed after 3 months while 3 fractures in the arthroscopy group did after 6 months.In the plate group,7 patients developed shoulder stiffness 3 to 6 months after surgery and 3 ones reported pain during abduction.Conclusions Both ADRB and MIPS are an effective treatment for simple avulsion fracture of humeral greater tuberosity.MIPS fixation needs shorter surgical time while ADRB leads to better postoperative shoulder ROM.

Objective: To investigate the source and the transmission chain of a cold-chain product associated COVID-19 epidemic caused by 2019-nCoV Delta variant in Beijing. Methods: Epidemiological investigation were used to verify the exposure points of the cases. Close contacts were traced from the exposure points, and human and environmental samples were collected for nucleic acid tests. Positive samples were analyzed by gene sequencing. Results: A total of 112 cases of COVID-19 were reported in the epidemic from January 18 to February 6, 2022 in Beijing. Except for 1 case was uncertain, there were epidemiological links among 111 cases. The source of infection was the packages of imported cold-chain products from Southeast Asia, which were harvested and stored in a local cold-storage in January 2021, and packaged and sent to the cold-storage A in A district in June 2021, and then sold in batches in cold-storage B in B district from January 2022. The first case was infected in the handling of positive frozen products, and then 77 cases occurred due to working, eating and living together with the index case in the cold-storage B, cold-storage C and restaurant D. Besides the cold-storage B, C and the restaurant D, there were 16 sub-transmission chains, resulting in additional 35 cases. Conclusion: The epidemic indicated that the risk of 2019-nCoV infection from imported cold-chain products contaminated by package and highlighted the importance to strengthen the management of cold-chain industry in future.
Beijing/epidemiology* ; COVID-19/epidemiology* ; Epidemics ; Humans ; SARS-CoV-2