Objective To investigate the association between four single nucleotide polymorphisms(SNP)(rs9340 in MAPK1,rs14804 in NRAS,rs712 and rs7973450 in KRAS)in the 3'UTR of ERK1/2 signaling pathway-related genes and non-small cell lung cancer(NSCLC).Methods A total of 478 NSCLC patients and 480 healthy controls were enrolled in this study.Four SNPs were genotyped by using TaqMan assays.The association between the four SNPs and NSCLC was analyzed.Results The distribution frequency difference of the allele of rs9340 was statistically significant between the control group and the non-small cell squamous cell carcinoma(SCC)group(P = 0.009),suggesting that the G allele of rs9340 may be a protective factor for non-small cell lung squamous cell carcinoma(OR = 0.67,95%CI:0.50～0.91).In addition,in the<50 years age group,the distribution frequency difference of the allele of rs9340 was statistically significant between the control group and the NSCLC group(P = 5.07×10-4),indicating that the G allele of rs9340 may be a protective factor for NSCLC(OR = 0.46,95%CI:0.29～0.72).Conclusion The SNP rs9340 in MAPK1 may be associated with the risk of NSCLC.

The anterior disc displacement (ADD) leads to temporomandibular joint osteoarthritis (TMJOA) and mandibular growth retardation in adolescents. To investigate the potential functional role of fibrocartilage stem cells (FCSCs) during the process, a surgical ADD-TMJOA mouse model was established. From 1 week after model generation, ADD mice exhibited aggravated mandibular growth retardation with osteoarthritis (OA)-like joint cartilage degeneration, manifesting with impaired chondrogenic differentiation and loss of subchondral bone homeostasis. Lineage tracing using Gli1-CreER⁺; Tm^fl/-mice and Sox9-CreER⁺;Tm^fl/-mice showed that ADD interfered with the chondrogenic capacity of Gli1⁺ FCSCs as well as osteogenic differentiation of Sox9⁺ lineage, mainly in the middle zone of TMJ cartilage. Then, a surgically induced disc reposition (DR) mouse model was generated. The inhibited FCSCs capacity was significantly alleviated by DR treatment in ADD mice. And both the ADD mice and adolescent ADD patients had significantly relieved OA phenotype and improved condylar growth after DR treatment. In conclusion, ADD-TMJOA leads to impaired chondrogenic progenitor capacity and osteogenesis differentiation of FCSCs lineage, resulting in cartilage degeneration and loss of subchondral bone homeostasis, finally causing TMJ growth retardation. DR at an early stage could significantly alleviate cartilage degeneration and restore TMJ cartilage growth potential.
Animals ; Mice ; Osteogenesis ; Zinc Finger Protein GLI1 ; Fibrocartilage ; Temporomandibular Joint ; Disease Models, Animal ; Osteoarthritis ; Stem Cells ; Growth Disorders

Objective:To systematically evaluate the clinical efficacy and safety of autologous platelet-rich concentrate in facial fat transplantation.Methods:By combining subject headings with free words, the randomized controlled trials of platelet-rich concentrate combined with autologous fat grafting (AFG) on improving facial morphology were searched in domestic and foreign databases (PubMed, Embase, Cochrane Library, Web of Science, CNKI, Wanfang Database, VIP Database) published in Chinese and English from database establishment to April 2023. According to inclusion and exclusion criteria, NoteExpress was used to screen relevant literatures, quality evaluation and data extraction were carried out for the final included literatures, and statistical analysis of the data was carried out using Review Manager 5.4 and Stata 15.0. For the count data, the risk ratio ( RR) was used as the statistical effect index, and the Mantel-Haenszel(M-H) hierarchical analysis method was used to calculate the combined results. For the measurement data, mean difference ( MD) was used as the statistical effect indicator, and the combined results were calculated by the inverse-variance(I-V) method. The heterogeneity among the studies was comprehensively tested by Q test combined with I2 statistic. If there was high heterogeneity among the studies, the random effect model was used for statistical analysis. Otherwise, the fixed effect model was used for statistical. Results:A total of 1 238 literatures were retrieved, and 19 randomized controlled trials involving 1 168 patients were eventually included after screening. The papers were all published within the last 10 years, mainly by Chinese authors. In the experimental group, the intervention measures of four studies were platelet-rich fibrin combined with AFG, two studies were concentrated growth factor combined with AFG, and the other thirteen studies were platelet-rich plasma combined with AFG. The results showed that: compared with fat transplantation alone, the addition of platelet-rich concentrate could improve the long-term fat retention rate ( MD=18.20%, 95% CI 14.03%-22.37%, P<0.001) and increase the operative response rate ( RR=1.22, 95% CI 1.15-1.29, P<0.001), shorten the postoperative recovery time ( MD=-4.18 d, 95% CI -7.01 d to -1.34 d, P=0.004), and reduce the incidence of secondary surgery ( RR=0.24, 95% CI 0.15-0.40, P<0.001), furthermore, patient satisfaction was improved ( RR=1.25, 95% CI 1.17-1.33, P<0.001). In addition, the incidence of complications during treatment was reduced ( RR=0.35, 95% CI 0.24-0.51, P<0.001). Conclusion:The efficacy and safety of platelet-rich concentrate assisted fat transplantation on face are worthy of recognition, and more large-scale and multi-center studies are needed for further clinical promotion.

Objective:To systematically evaluate the clinical efficacy and safety of autologous platelet-rich concentrate in facial fat transplantation.Methods:By combining subject headings with free words, the randomized controlled trials of platelet-rich concentrate combined with autologous fat grafting (AFG) on improving facial morphology were searched in domestic and foreign databases (PubMed, Embase, Cochrane Library, Web of Science, CNKI, Wanfang Database, VIP Database) published in Chinese and English from database establishment to April 2023. According to inclusion and exclusion criteria, NoteExpress was used to screen relevant literatures, quality evaluation and data extraction were carried out for the final included literatures, and statistical analysis of the data was carried out using Review Manager 5.4 and Stata 15.0. For the count data, the risk ratio ( RR) was used as the statistical effect index, and the Mantel-Haenszel(M-H) hierarchical analysis method was used to calculate the combined results. For the measurement data, mean difference ( MD) was used as the statistical effect indicator, and the combined results were calculated by the inverse-variance(I-V) method. The heterogeneity among the studies was comprehensively tested by Q test combined with I2 statistic. If there was high heterogeneity among the studies, the random effect model was used for statistical analysis. Otherwise, the fixed effect model was used for statistical. Results:A total of 1 238 literatures were retrieved, and 19 randomized controlled trials involving 1 168 patients were eventually included after screening. The papers were all published within the last 10 years, mainly by Chinese authors. In the experimental group, the intervention measures of four studies were platelet-rich fibrin combined with AFG, two studies were concentrated growth factor combined with AFG, and the other thirteen studies were platelet-rich plasma combined with AFG. The results showed that: compared with fat transplantation alone, the addition of platelet-rich concentrate could improve the long-term fat retention rate ( MD=18.20%, 95% CI 14.03%-22.37%, P<0.001) and increase the operative response rate ( RR=1.22, 95% CI 1.15-1.29, P<0.001), shorten the postoperative recovery time ( MD=-4.18 d, 95% CI -7.01 d to -1.34 d, P=0.004), and reduce the incidence of secondary surgery ( RR=0.24, 95% CI 0.15-0.40, P<0.001), furthermore, patient satisfaction was improved ( RR=1.25, 95% CI 1.17-1.33, P<0.001). In addition, the incidence of complications during treatment was reduced ( RR=0.35, 95% CI 0.24-0.51, P<0.001). Conclusion:The efficacy and safety of platelet-rich concentrate assisted fat transplantation on face are worthy of recognition, and more large-scale and multi-center studies are needed for further clinical promotion.

OBJECTIVE: To analyze the clinical phenotype and MYH7 gene variant in a Chinese pedigree affected with hypertrophic cardiomyopathy (HCM). METHODS: The proband was screened for variant of 96 cardiomyopathy-associated genes by exonic amplification and high-throughput sequencing. Candidate variant was verified by Sanger sequencing among 300 healthy controls as well as family members of the proband. Co-segregation analysis of genotypes and clinical phenotypes was carried out for the pedigree. Clustal X software was used to analyze the sequence conservation of the variant among various species, and its pathogenicity was predicted by using bioinformatics software. RESULTS: 6 out of 12 members from this pedigree were found to harbor heterozygous c.4124A>G (p.Tyr1375Cys) variant of the MYH7 gene, among whom five were diagnosed with HCM. The remaining one had failed to meet the diagnostic criteria for HCM, but had abnormal ECG. The same variant was not found in the 300 healthy controls. Amino acid sequence analysis showed that the variant is located in a highly conserved region, and bioinformatics analysis predicted that this variant may affect protein function and has a deleterious effect. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM2+ PP1_Moderate+PP3+PP5). CONCLUSION The c.4124A>G (p.Tyr1375Cys) variant of the MYH7 gene probably underlay the pathogenesis in this pedigree. Above finding has important value for the early diagnosis of patients with HCM.
Cardiac Myosins/genetics* ; Cardiomyopathy, Hypertrophic/genetics* ; Genotype ; Humans ; Mutation ; Myosin Heavy Chains/genetics* ; Pedigree ; Phenotype

Objective:To investigate the clinical application value of craniotomy with hematoma evacuation combined with decompressive craniectomy in the treatment of severe traumatic brain injury.Methods:Sixty-eight patients with severe traumatic brain injury who received treatment in China Coast Guard Bureau Hospital, China between June 2016 and June 2019 were randomly assigned to receive either craniotomy with hematoma evacuation combined with decompressive craniectomy (observation group, n = 34) or conventional craniotomy (control group, n = 34). Surgical value for severe traumatic brain injury and the occurrence of complications were compared between the observation and control groups. Results:Before treatment, there were no significant differences in intracranial pressure, National Institute of Health Stroke Scale score, activity of daily living between the observation and control groups (all P > 0.05). After 7 days of treatment, intracranial pressure in the two groups was significantly decreased compared with before treatment, and intracranial pressure in the observation group was significantly lower than that in the control group ( t = 17.284, P < 0.001). After treatment, Glasgow Coma Scores were significantly increased in the two groups, and Glasgow Coma Scores in the observation group were significantly higher than those in the control group ( t = 5.823, 7.185, 9.234, all P < 0.05). In addition, the numbers of patients with grade I, II and III severe traumatic brain injury in the observation group were significantly lower than those in the control group (all P < 0.05). The number of patients with grade V prognosis in the observation group was significantly higher than that in the control group [20 (58.8%) vs. 8 (23.5%), χ2 = 8.743, P < 0.05]. After treatment, severe traumatic brain injury was mitigated in the two groups. National Institute of Health Stroke Scale score in the observation group was significantly lower than that in the control group, and the activity of daily living in the observation group was significantly higher than that in the control group. The numbers of patients with delayed hematoma, a need for reoperation, hydrocephalus, acute encephalocele, epilepsy, and intracranial infection in the observation group were significantly lower than those in the control group. Conclusion:Craniotomy with hematoma evacuation combined with decompressive craniectomy for treatment of severe traumatic brain injury can greatly decrease intracranial pressure, reduce the degree of injury and improve prognosis.

Objective:To explore the influence of lateral patellofemoral joint degeneration on the treatment of anteromedial osteoarthritis of knee joint by Oxford medial unicompartmental knee arthroplasty.Methods:The clinical data of 73 patients (73 knees) with knee osteoarthritis underwent unicompartmental knee arthroplasty at Department of Orthopaedic Surgery, Xuanwu Hospital, Capital Medical University from March 2016 to December 2017 were analysed respectively.There were 18 males and 55 females, aged (68.6±7.5) years(range: 53 to 89 years).The lateral patellofemoral joints of patients were evaluated by Ahlback grading system. Patients with Ahlback 0 andⅠ were in the non degenerative group (37 cases), and those with Ahlback Ⅱ and above were in the degenerative group (36 cases). Hospital for special surgery knee score(HSS) and the Western Ontario and McMaster Universities(WOMAC) osteoarthritis index, as well as the condition of kneeling, sit to stand movement, up stair and down stair were recorded. The data before and after operation were compared by paired sample t test, and the data between groups were compared by independent sample t test. χ 2 test was used for counting data. Pearson correlation analysis was used to compare the correlation between ahlback score, HSS and WOMAC osteoarthritis index. Results:The follow-up time was (35.1±6.6) months (range: 25 to 47 months).The knee function of the patients improved significantly after operation.The HSS score increased from 57.7±11.8 preoperative to 81.8±7.8 postoperative ( t=16.64, P=0.00) and WOMAC osteoarthritis index decreased from 48.9±13.4 preoperative to 15.6±8.8 postoperative ( t=20.48, P=0.00). There was no statistical difference in the change of HSS between the degenerative group and the non-degenerative group before and after surgery(27.5±12.2 vs. 22.5±12.3, t=-1.65, P=0.10) as well as the change of WOMAC osteoarthritis index(31.8±14.0 vs. 36.4±13.7, t=-1.35, P=0.18), but the lateral patellofemoral joint degeneration was related to inability to complete squats (χ 2=5.17, P=0.04) and sitting up (χ 2=7.22, P=0.01). Conclusion:The degeneration of lateral patellofemoral joint has no effect on the early functional recovery of patients with anteromedial knee osteoarthritis after Oxford medial unicompartmental knee arthroplasty.

Objective:To explore the influence of lateral patellofemoral joint degeneration on the treatment of anteromedial osteoarthritis of knee joint by Oxford medial unicompartmental knee arthroplasty.Methods:The clinical data of 73 patients (73 knees) with knee osteoarthritis underwent unicompartmental knee arthroplasty at Department of Orthopaedic Surgery, Xuanwu Hospital, Capital Medical University from March 2016 to December 2017 were analysed respectively.There were 18 males and 55 females, aged (68.6±7.5) years(range: 53 to 89 years).The lateral patellofemoral joints of patients were evaluated by Ahlback grading system. Patients with Ahlback 0 andⅠ were in the non degenerative group (37 cases), and those with Ahlback Ⅱ and above were in the degenerative group (36 cases). Hospital for special surgery knee score(HSS) and the Western Ontario and McMaster Universities(WOMAC) osteoarthritis index, as well as the condition of kneeling, sit to stand movement, up stair and down stair were recorded. The data before and after operation were compared by paired sample t test, and the data between groups were compared by independent sample t test. χ 2 test was used for counting data. Pearson correlation analysis was used to compare the correlation between ahlback score, HSS and WOMAC osteoarthritis index. Results:The follow-up time was (35.1±6.6) months (range: 25 to 47 months).The knee function of the patients improved significantly after operation.The HSS score increased from 57.7±11.8 preoperative to 81.8±7.8 postoperative ( t=16.64, P=0.00) and WOMAC osteoarthritis index decreased from 48.9±13.4 preoperative to 15.6±8.8 postoperative ( t=20.48, P=0.00). There was no statistical difference in the change of HSS between the degenerative group and the non-degenerative group before and after surgery(27.5±12.2 vs. 22.5±12.3, t=-1.65, P=0.10) as well as the change of WOMAC osteoarthritis index(31.8±14.0 vs. 36.4±13.7, t=-1.35, P=0.18), but the lateral patellofemoral joint degeneration was related to inability to complete squats (χ 2=5.17, P=0.04) and sitting up (χ 2=7.22, P=0.01). Conclusion:The degeneration of lateral patellofemoral joint has no effect on the early functional recovery of patients with anteromedial knee osteoarthritis after Oxford medial unicompartmental knee arthroplasty.

Objective:To explore the value of three-dimensional speckle tracking imaging (3D-STI) and conventional echocardiography in evaluating left ventricular function characteristics of sarcomere mutation carriers in hypertrophic cardiomyopathy.Methods:Totally 91 subjects with sarcomere mutations in family HCM but without left ventricular hypertrophy (G + /P - group), and 100 normal family members with gender and age matched as the control group (G -/P - group) were enrolled from the center of hypertrophic cardiomyopathy of Xijing Hospital affiliated to the Air Force Military Medical University from February 2013 to April 2017. They all received the comprehensive evaluation of 3D-STI and conventional echocardiography. The ultrasonic paramaters between the two groups were compared. And the diagnostic performance of these paramaters with sarcomere mutations was evaluated. Results:Compared with the G -/P - group, the G + /P -group had larger left atrial diameter (LAD), longer left ventricular isovolumic relaxation time (IVRT), reduced mitral annular systolic velocity (e′), elevated E/e′ ratio, as well as impaired left ventricular global longitudinal and radial strain(GLS and GRS) ( P<0.05). Moreover, the GLS≤19.9%(AUC 0.861, sensitivity 61.4%, specificity 98.5%) and IVRT≥75.5 ms(AUC 0.762, sensitivity 61.4%, specificity 72.6%) showed the best diagnostic performance with sarcomere mutations ( P<0.05). Conclusions:In HCM family members, the sarcomere mutations carriers without left ventricular hypertrophy exhibit impaired left ventricular diastolic function, reduced longitudinal and radial systolic function.Moreover, the GLS and IVRT show the best diagnostic performance for those with sarcomere mutations.

Objective:To explore the value of three-dimensional speckle tracking imaging (3D-STI) in the diagnosis of immunoglobulin light-chain cardiac amyloidosis(AL-CA) patients with normal left ventricular ejection fraction (LVEF).Methods:A total of 92 consecutive patients diagnosed with systemic immunoglobulin light chain amyloidosis(sAL) and with normal LVEF from October 2014 to January 2018 in Xijing Hospital were enrolled.Based on the diagnostic criteria of cardiac involvement, the patients were divided into AL-CA group (52 cases) and immunoglobulin light chain amyloidosis (AL) group (40 cases). The clinical data and serological markers of the patients were collected, the conventional echocardiography and full-volume three dimensional dynamic images were acquired, left ventricular global longitudinal strain (GLS), global radial strain (GRS), global circumferential strain (GCS), and global area strain (GAS) were analyzed using off-line TomTec software. The differences between the two groups were compared.Results:Compared with the AL group, the NT-proBNP of AL-CA group was significantly higher ( P<0.05) and there were no significant differences of the other serological indexes between the two groups(all P>0.05). Compared with the AL group, the maximal left ventricular wall thickness, left ventricular mass index, left atrial volume index, and E/e′ in the AL-CA group were significantly increased (all P<0.05). There were no significant differences of other conventional echocardiographic measurements between the two groups(all P>0.05). Compared with the AL group, GLS, GAS, and GRS were significantly lower in AL-CA group (all P<0.05); but there was no significant difference of GCS between the two groups( P>0.05). The ROC curve analysis showed that the cut-off values discriminating cardiac involvement were 16.09% for GLS, 36.54% for GAS and 31.90% for GRS. Conclusions:3D-STI measurements of left ventricular myocardial mechanics could detect cardiac involvement in patients with sAL amyloidosis, and provides a new method for diagnosis of AL-CA.