BACKGROUND:The pedicle navigation template has many advantages,but there are still some problems.For example,poor soft tissue dissection leads to poor adhesion of the pedicle navigation template,resulting in screw path deviation;careful dissection of soft tissue to fit the pedicle navigation template leads to prolonged surgery time and increased bleeding;the design of the pedicle navigation template cannot predict the vertebral rotation and the impact of body position changes,resulting in the poor fitting. OBJECTIVE:To explore the utility of a new 5-point positioning point-contact pedicle navigation template in the case of scoliosis and complex pedicle. METHODS:A total of 20 patients with scoliosis and complicated pedicle admitted to the Department of Spinal Surgery,Guizhou Hospital,Beijing Jishuitan Hospital from February 2020 to February 2023 were selected for scoliosis orthopedics.During the operation,the 5-point positioning point-contact pedicle navigation template was used to guide the screws.According to the inclusion and exclusion criteria,34 cases were matched as the empirical nail placement group,and conventional barehanded nail placement was performed.The time of placement,the amount of bleeding,the number of fluoroscopies,the number of manual diversions,the level and accuracy of pedicle screws,the complications of placement,and the rate of correction of main curvature were compared between the two groups. RESULTS AND CONCLUSION:(1)There were no significant differences in sex,age,coronal Cobb's angle of the main curvature,bending Cobb's angle of the main curvature,pedicle variation,apex rotation,fusion segment,number of screws,level of screws,accuracy of screws,and rate of correction of main curvature between the navigation template group and the empirical nail placement group(P>0.05).(2)Compared with the empirical nail placement group,the navigation template group had more advantages in time of placement(P=0.034),amount of bleeding(P=0.036),number of fluoroscopies(P=0.000)and number of manual diversions(P=0.021).(3)There were 0 cases of screw-related complications in both groups.(4)In conclusion,the 5-point positioning point-contact 3D printing pedicle navigation template has a claw-like structure.It can firmly adapt to various deformities of the lamina articular process,avoid drift,and accurately place the screws.It has a point-like contact lamina structure to avoid extensive and complete dissection of the posterior structure,and reduce bleeding,operation time,and trauma.Pre-designed screw entry points and directions can reduce the number of fluoroscopy and operation time.Segmental design can avoid discomfort due to changes in anesthesia position.The operation is simple and the accuracy of screw placement is high.

Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.

OBJECTIVE: To explore the effectiveness of a new point contact pedicle navigation template (referred to as "new navigation template" for simplicity) in assisting screw implantation in scoliosis correction surgery. METHODS: Twenty-five patients with scoliosis, who met the selection criteria between February 2020 and February 2023, were selected as the trial group. During the scoliosis correction surgery, the three-dimensional printed new navigation template was used to assist in screw implantation. Fifty patients who had undergone screw implantation with traditional free-hand implantation technique between February 2019 and February 2023 were matched according to the inclusion and exclusion criteria as the control group. There was no significant difference between the two groups ( P>0.05) in terms of gender, age, disease duration, Cobb angle on the coronal plane of the main curve, Cobb angle at the Bending position of the main curve, the position of the apical vertebrae of the main curve, and the number of vertebrae with the pedicle diameter lower than 50%/75% of the national average, and the number of patients whose apical vertebrae rotation exceeded 40°. The number of fused vertebrae, the number of pedicle screws, the time of pedicle screw implantation, implant bleeding, fluoroscopy frequency, and manual diversion frequency were compared between the two groups. The occurrence of implant complications was observed. Based on the X-ray films at 2 weeks after operation, the pedicle screw grading was recorded, the accuracy of the implant and the main curvature correction rate were calculated. RESULTS: Both groups successfully completed the surgeries. Among them, the trial group implanted 267 screws and fused 177 vertebrae; the control group implanted 523 screws and fused 358 vertebrae. There was no significant difference between the two groups ( P>0.05) in terms of the number of fused vertebrae, the number of pedicle screws, the pedicle screw grading and accuracy, and the main curvature correction rate. However, the time of pedicle screw implantation, implant bleeding, fluoroscopy frequency, and manual diversion frequency were significantly lower in trial group than in control group ( P<0.05). There was no complications related to screws implantation during or after operation in the two groups. CONCLUSION The new navigation template is suitable for all kinds of deformed vertebral lamina and articular process, which not only improves the accuracy of screw implantation, but also reduces the difficulty of operation, shortens the operation time, and reduces intraoperative bleeding.
Humans ; Orthopedic Procedures ; Pedicle Screws ; Retrospective Studies ; Scoliosis/surgery* ; Spinal Fusion/methods* ; Spine ; Surgery, Computer-Assisted/methods*

Objective:To explore the effect of a new 5-point positioning point contact clamping fixation pedicle navigation template in treating cases of scoliosis and complex pedicle.Methods:From February 2019 to February 2023, 30 patients with scoliosis and complicated pedicle were admitted for orthopedic surgery. There were 11 males and 19 females, with an average age of 16.54±6.23 years (range 7 to 35 years). A total 60 cases treated before February 2019 were matched as a control group, including 23 males and 37 females, with an average age of 16.72±6.34 years (range 6 to 35 years). During the operation, the 5-point positioning point-contact clamping fixation pedicle navigation template was used to guide the screws. Screw placement time, screw placement bleeding volume, fluoroscopy frequency, manual redirection frequency, Rao pedicle screw placement classification and accuracy, screw placement complications, and main curve correction rate were recorded.Results:All the 30 cases from the study group successfully underwent the surgery with a total of 354 screws placed, while in the control group a total of 727 screws were placed in 60 cases. The surgery times and intraoperative bleeding volumes for the study group and the control group were 279.45±57.72 min vs. 292.54±58.87 min and 921.57±371.32 ml vs. 932.83±376.65 ml with significant differences ( t=-2.13, P=0.022; t=-1.87, P=0.024). The time for screw placement from the start of skin incision to the placement of the last screw and the bleeding volume during screw placement in the study group and the control group was 82.87±24.46 min vs. 97.53±25.56 min and 72.25±43.66 ml vs. 106.53±61.22 ml with significant differences ( t=-2.66, P=0.031; t=-2.32, P=0.027). The screw placement fluoroscopy frequencies and manual redirection frequencies in the study group and the control group were 4.21±1.11 times vs. 6.32±1.81 times and 0.47±0.64 times vs. 0.93±0.86 times with significant differences ( t=-4.66, P<0.001; t=-2.78, P=0.018). According to the Rao pedicle screw placement classification, the study group had 329 screws classified as level I, 19 screws as level II, and 6 screws as level III. In the control group, there were 669 screws classified as level I, 45 screws as level II, 12 screws as level III, and 1 screw as level IV with no significant difference (χ 2=4.26, P=0.547). The screw placement accuracy and the main curve correction rate in the study group and the study group was 98.31%±3.10% vs. 98.21%±4.92% and 57.85%±9.46% vs. 6.64%±9.22% with no significant differences ( t=0.88, P=0.384; t=0.42, P=0.663). No complications of nerve damage, major vascular injury, cerebrospinal fluid leakage, infection, or death happened during surgery or postoperatively. There were no complications of internal fixation displacement, loosening, or breakage. The outcomes of the patients were good with significantly improved appearance and trunk balance after surgery. Conclusion:The new navigation template provided an accurate and safe way of placing screws in treating various deformities of the lamina articular process without extensive and complete dissection of the posterior structure, leading to reduced fluoroscopy and operation time.

Objective:To investigate the expression, regulation, potential mechanism and clinical significance of microRNA(miRNA)-129-1 in colon cancer.Methods:The changes of expression and methylation of miRNA-129-1 were analyzed from the methylation, mRNA expression and miRNA expression data of colon cancer in the cancer genome atlas (TCGA) database. The target genes of miRNA-129-1 were predicted from miRwalk 2.0 and TargetScan database. DAVID 6.7 online software was used for gene oncology and Kyoto encyclopedia of genes and genomes enrichment analysis. STRING database was used for protein-protein interaction analysis. TCGA data were applied again to analyze the differential expression and prognosis of key target genes of miRNA-129-1. Paired t test and independent sample t test were used for statistical analysis. The receiver operating characteristic curve (ROC) was used to evaluate the diagnostic value of miRNA-129-1 gene methylation in colon cancer. Kaplan-Meier method and log-rank test were used to analyze the effects of miRNA-129-1 expression on survival. Results:The sequence of miRNA-129-1 among different species was conserved. After all colon cancer samples, and control samples of TCGA database were analyzed, the results showed that compared with those of control samples, the expression of miRNA-129-1 decreased in cancer samples (0.98±0.81 vs. 5.74±0.59), and the methylation levels of cg04524088, cg04840800, cg11364290, cg20734982 and cg24044186 locus of miRNA-129-1 significantly decreased (0.321±0.130 vs. 0.563±0.051, 0.432±0.123 vs. 0.624±0.064, 0.475±0.153 vs. 0.768±0.033, 0.659±0.180 vs. 0.816±0.037 and 0.862±0.096 vs. 0.916±0.019, respectively) in colon cancer tissues, and the differences were all statistically significant ( t=14.95, 11.36, 9.39, 11.74, 5.32 and 3.47, all P<0.01). The results of ROC analysis showed that the methylation levels of the above five locus of miRNA-129-1 gene had high diagnostic efficiency in colon cancer (area under curve=0.946, 0.915, 0.950, 0.758 and 0.667, all P<0.01). The results of survival analysis indicated that low expression of miRNA-129-1 was associated with poor prognosis (hazard ratio ( HR)=0.55, P=0.018). The results of bioinformatics analysis demonstrated that the target genes of miRNA-129-1 were enriched in serine / threonine kinase receptor, mitogen-activated protein kinase and other functional gene clusters closely related to tumor, and there was a complex interaction network among the target genes proteins. The high expression of ephrin type-B receptor2 ( EPHB2) gene, a potential key target gene of miRNA-129-1, was associated with the short overall survival and disease-free survival time ( HR=1.9 and 1.6, both P<0.01). Conclusions:The expression and methylation of miRNA-129-1 play an important regulatory role in the development and development of colon cancer. The methylation of miRNA-129-1 has potential value in the diagnosis of colon cancer, and miRNA-129-1 is an influencing factor for the prognosis of patients with colon cancer. EPHB2 may be a potential key target gene of miRNA-129-1.

Objective:To investigate the safety and clinical efficacy of osteotomy after halo pelvic traction in severe scoliosis accompanied with split cord malformation.Methods:The clinical data of 14 patients with severe scoliosis accompanied with split cord malformation admitted to the Department of Spinal Surgery, Guizhou Orthopedic Hospital from August 2015 to August 2019 were retrospectively analyzed.There were 6 males and 8 females, aged (19.8±5.0) years (range:13 to 34 years). All patients received spinal orthopedic surgery after halo pelvic traction for 3 to 7 weeks.The data of traction time, height, Cobb angle in the main curved coronal plane and sagittal plane, lung function and nutritional status of the patient were collected before and after the treatment. Paired t test was used to compare the evaluation indexes. Results:The traction time of the 14 patients was (35.2±8.3)days (range:20 to 49 days), and the height of them increased from (156.7±7.6)cm (range:141 to 166 cm) before traction to (167.0±6.4)cm (range:154 to 177 cm) after traction（ t=-10.49， P<0.01）. The Cobb angle on the main curved coronal plane decreased from (117.4±17.2) ° (range: 91°to 176°) before traction to (56.4±8.1) ° (range:44°to 68°) after traction（ t=13.90， P<0.01）. The sagittal Cobb angle decreased from (92.5±11.6) ° (range:62°to 132°) before traction to (41.7±7.7) °(range:29°to 51°) after traction（ t=12.11， P<0.01）. No complications such as loosening of nailing and infection occurred during traction, and no decrease of nerve function occurred. Nine patients underwent single segment acromial transpedicle osteotomy and five underwent double segment adjacent asymmetric shortening osteotomy. None of the patients underwent longitudinal fracture resection. The lung function and nutritional status were improved after traction and surgery(all P<0.01). Postoperative follow-up was (22.5±9.1)months (range:12 to 36 months). At the last follow-up, the coronal Cobb angle was (56.3±7.1) °, and the sagittal Cobb angle was (37.7±6.5) °, showing no statistically significant difference from the angle after traction( t=0.16, P=0.88; t=2.28, P=0.32). There was no loss of orthopedic angle. None of the patients had internal fixation displacement, loosening or fracture. Conclusion:The treatment of severe scoliosis with accompanied with split cord malformation by halo pelvic traction is safe and effective, which is worthy of further confirmation by large sample study.

Objective:To investigate the safety and clinical efficacy of osteotomy after halo pelvic traction in severe scoliosis accompanied with split cord malformation.Methods:The clinical data of 14 patients with severe scoliosis accompanied with split cord malformation admitted to the Department of Spinal Surgery, Guizhou Orthopedic Hospital from August 2015 to August 2019 were retrospectively analyzed.There were 6 males and 8 females, aged (19.8±5.0) years (range:13 to 34 years). All patients received spinal orthopedic surgery after halo pelvic traction for 3 to 7 weeks.The data of traction time, height, Cobb angle in the main curved coronal plane and sagittal plane, lung function and nutritional status of the patient were collected before and after the treatment. Paired t test was used to compare the evaluation indexes. Results:The traction time of the 14 patients was (35.2±8.3)days (range:20 to 49 days), and the height of them increased from (156.7±7.6)cm (range:141 to 166 cm) before traction to (167.0±6.4)cm (range:154 to 177 cm) after traction（ t=-10.49， P<0.01）. The Cobb angle on the main curved coronal plane decreased from (117.4±17.2) ° (range: 91°to 176°) before traction to (56.4±8.1) ° (range:44°to 68°) after traction（ t=13.90， P<0.01）. The sagittal Cobb angle decreased from (92.5±11.6) ° (range:62°to 132°) before traction to (41.7±7.7) °(range:29°to 51°) after traction（ t=12.11， P<0.01）. No complications such as loosening of nailing and infection occurred during traction, and no decrease of nerve function occurred. Nine patients underwent single segment acromial transpedicle osteotomy and five underwent double segment adjacent asymmetric shortening osteotomy. None of the patients underwent longitudinal fracture resection. The lung function and nutritional status were improved after traction and surgery(all P<0.01). Postoperative follow-up was (22.5±9.1)months (range:12 to 36 months). At the last follow-up, the coronal Cobb angle was (56.3±7.1) °, and the sagittal Cobb angle was (37.7±6.5) °, showing no statistically significant difference from the angle after traction( t=0.16, P=0.88; t=2.28, P=0.32). There was no loss of orthopedic angle. None of the patients had internal fixation displacement, loosening or fracture. Conclusion:The treatment of severe scoliosis with accompanied with split cord malformation by halo pelvic traction is safe and effective, which is worthy of further confirmation by large sample study.

Objective:To investigate changes of nicastrin (NCSTN) downstream molecules in signaling pathways related to cell proliferation and differentiation after silencing the expression of the NCSTN gene in the human immortalized keratinocyte cell line HaCaT.Methods:HaCaT cells were divided into 3 groups: interference group transfected with a specific small interfering RNA (siRNA) targeting NCSTN (NCSTN-siRNA) , negative control group transfected with a negative control siRNA, and blank control group transfected with the equal amount of transfection reagent. Real-time PCR and Western blot analysis were performed to measure the NCSTN mRNA and protein expression in groups, in order to verify the transfection efficiency. Differences in gene expression profiles in HaCaT cells were detected between the interference group and negative control group by using Agilent whole-genome microarray, and differentially expressed genes were identified based on a fold change ≥ 2.0 with a P value ≤ 0.05. Gene ontology (GO) enrichment analysis was employed to identify the roles of the differentially expressed genes, and then to screen out significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, some of which were verified by real-time PCR. Results:The interference group showed significantly decreased mRNA and protein expression of NCSTN (0.287 ± 0.090, 0.443 ± 0.085, respectively) compared with the negative control group (0.969 ± 0.127, 1.047 ± 0.114, respectively) and blank control group (1.000 ± 0.151, 1.000 ± 0.111, F = 30.787, 31.139, respectively, both P = 0.001) . Whole genome-expression analysis using an Agilent microarray platform revealed 605 downregulated genes and 444 upregulated genes in HaCaT cells in the interference group compared with the negative control group. GO analysis showed that differentially expressed genes were enriched into 4 biological processes, including epithelial development, epithelial cell differentiation, keratinocyte differentiation and keratinization. The significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, including the Sprouty-related protein with EVH1 domain 2, fibroblast growth factor 7, insulin-like growth factor-binding protein 5, Rho-associated coiled-coil kinase 2 and bone morphogenetic protein 6 genes, were verified by real-time PCR, and the verification results were consistent with the difference trend shown by the microarray results. Conclusion:The loss of NCSTN gene function may affect the normal proliferation and differentiation of keratinocytes by regulating the expression of its downstream molecules in signaling pathways associated with cell proliferation and differentiation.

Objective:To explore the correlation between prenatal clinical data with etiological diagnosis and neonatal outcome in isolated fetal ascites.Methods:Totally, 36 pregnancy cases diagnosed as isolated fetal ascites by ultrasound in Provincial Hospital Affiliated to Shandong University from June 22nd, 2016 to September 28th, 2018 were collected. Invasive prenatal diagnosis was performed by taking fetal cord blood, amniotic fluid, and fetal ascites respectively for cytogenetics, molecular genetics and biochemical examination and the impact of intrauterine therapeutic procedures on neonatal outcomes was evaluated as well. The correlation among prenatal examination, pathogeny and prognosis was analyzed by Fisher′s exact test.Results:(1) The prognosis of isolated fetal ascites initially presenting ≥28 weeks was better than that before 28 weeks, survival rate of 1-year-old were 13/15 and 9/17,respectively, the difference was statistically significant ( P<0.05). (2) The etiologic diagnosis rate of ascites before delivery was 31%(11/36), which increased to 53%(19/36) totally after birth. Characteristics of cases which were defined prenatally were as follows: 8 cases of digestive tract diseases showed ultrasonic abnormalities, including echogenic bowel, bowel dilatation and polyhydramnios; platelet level in umbilical cord blood of fetuses infected with cytomegalovirus were below 100 × 10 9/L in 2 cases; 1 case of urinary system malformation showed megalocystis and hydronephrosis. Cases which were defined causes after birth included: 3 fetuses with chyloperitonium presented persistent fetal ascites; 3 cases of digestive-related causes were rectal duplication with infection, mesentery stenosis, and intestinal atresia; other causes included Pierre-Robin syndrome and Budd-Chiari syndrome. (3) The live birth rate was 72% (26/36) and survival rate of 1-year-old was 61% (22/36). And 9/10 of infants who underwent surgeries got good outcomes. Fetal ascites due to abdominal or pelvic factors turned well in 13/16 of cases. Conclusions:The pregnancy outcome of fetal isolated ascites depends mainly on primary causes. Gastrointestinal abnormality is one of the most common causes. Excluded intrauterine infection, chromosomal abnormality and abnormal systemic ultrasonic findings, fetus with reduced ascites as the pregnancy progresses will get good outcome.

Acne inversa is a chronic inflammatory skin disease of the folliculo-sebaceous-apocrine unit. Currently, genetic and immunological factors are hot topics in the study of its pathogenesis. Genetic factors are mainly related to γ-secretase mutations, and abnormal expression of the γ-secretase-Notch axis leads to increased keratinization of hair follicles and inflammation in some patients with haploinsufficiency of the γ-secretase gene. Mutations in the γ-secretase gene are not necessary for acne inversa, and the risk of Alzheimer′s disease in familial acne inversa patients still remains unclear. Some progress has been made in researches on the association of genotype with phenotype in acne inversa patients, but further studies with large sample size are needed for verification.