Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. Functional studies demonstrated that the ZNF513 p.R250W and KIF3C p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in vivo. ZNF513, a transcription factor, binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival fibroblasts. Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. In addition, we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of SOS1. Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. ZNF513 combined with KIF3C regulates gingival fibroblast proliferation, migration, and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways. In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.
Animals ; Humans ; Mice ; Fibromatosis, Gingival/pathology* ; Gingiva ; Kinesins/genetics* ; Mutation/genetics* ; Phosphatidylinositol 3-Kinases/genetics*

Bone defects caused by different causes such as trauma, severe bone infection and other factors are common in clinic and difficult to treat. Usually, bone substitutes are required for repair. Current bone grafting materials used clinically include autologous bones, allogeneic bones, xenografts, and synthetic materials, etc. Other than autologous bones, the major hurdles of rest bone grafts have various degrees of poor biological activity and lack of active ingredients to provide osteogenic impetus. Bone marrow contains various components such as stem cells and bioactive factors, which are contributive to osteogenesis. In response, the technique of bone marrow enrichment, based on the efficient utilization of components within bone marrow, has been risen, aiming to extract osteogenic cells and factors from bone marrow of patients and incorporate them into 3D scaffolds for fabricating bone grafts with high osteoinductivity. However, the scientific guidance and application specification are lacked with regard to the clinical scope, approach, safety and effectiveness. In this context, under the organization of Chinese Orthopedic Association, the Expert consensus for the clinical application of autologous bone marrow enrichment technique for bone repair ( version 2023) is formulated based on the evidence-based medicine. The consensus covers the topics of the characteristics, range of application, safety and application notes of the technique of autologous bone marrow enrichment and proposes corresponding recommendations, hoping to provide better guidance for clinical practice of the technique.

OBJECTIVE To investigate the effects of esketamine combined with dexmedetomidine used for drug-induced sleep endoscopy in patients with obstructive sleep apnea syndrome. METHODS Totally 60 patients with obstructive sleep apnea syndrome were randomly divided into control group and observation group ，with 30 cases in each group. Anesthesia induction scheme of control group included loading dose of dexmedetomidine 1 μg/kg，pumped for 10 min，maintained at 1 μg（/ kg·h），and intravenous administration of propofol at a constant rate of 3 mg（/ kg·h）until the patient snored. That of observation group included same administration route and dose of dexmedetomidine as control group ，intravenous administration of esketamine 1 mg/kg at a constant rate of 0.5 mg/（kg·h）until the patient snored. Sleep endoscopy was performed when the bispectral index （BIS）was lower than 75 and the alert /sedation（OAA/S）score was higher than 1. The vital signs ，BIS and OAA/S scores of patients in awake state （T0），10 min load dose of dexmedetomidine infusion （T1），at the time of examination （T2）and at the end of examination （T3） were recorded ，as well as the patient ’s medication （including the one-time success rate of examination ，the number of additional drugs due to physical movement during examination ），and the occurrence of adverse events after medication. RESULTS In the comparison between groups ，the pulse oxygen saturation （SpO2）and BIS of patients in the observation group were significantly higher than those in the control group at T1，T2 and T3；the heart rates and mean arterial pressures （MAP）at T2 and T3 were significantly lower than those in the control group ；and the OAA/S score at T1 and T2 were significantly higher than those in the control group （P＜0.05）. Comparison within the group ，the heart rates at T1，T2 and T3 in the observation group were significantly lower than those at T0，and the MAP at T2 and T3 were significantly lower than that at T1（P＜0.05）；in control group ，compared with T0，SpO2 decreased significantly at T1，T2 and T3，heart rate decreased significantly at T1，and MAP increased significantly at T2（P＜0.05）. Sixty patients successfully completed drug-induced sleep endoscopy after medication. The one-time success rate of examination in the observation group was significantly higher （No.191460443） than control group （P＜0.05），and the number of additional drugs due to physical movement during examination was significantly less than control group （P＜0.05）. There was no significant difference in the incidence of adverse events between 2 groups（P＞0.05）. CONCLUSIONS Esketamine combined with dexmedetomidine has less respiratory inhibition and less effect on hypoxia hemodynamics in patients with obstructive sleep apnea syndrome. It has less intervention times in the process of sleep endoscopy ，and has more advantages than propofol.

Objective:To analyze the characteristics of patients with Takayasu arteritis (TA) in the east China Takayasu arteritis (ECTA) cohort and their subgroups, and evaluate the disease characteristics.Methods:Patients diagnosed with TA in ECTA cohort from January 2009 to October 2019 were enrolled and their data were analyzed. The characteristics were analyzed and compared within subgroups using t-test or Wilcoxon rank sum test or Chi-square test. Results:A total of 454 patients were included, with the male to female ratio of 1∶4.75(79/375), and the main complaint were dizziness/headache, fatigue, and chest tightness/pain. The type Ⅴ and Ⅰ were the most common angiographic pattern, among which the subclavian artery and carotid artery were most vulnerable, manifested as vascular stenosis. Hypertension, tuberculosis and hepatitis B were common complications. In subgroup comparison, symptoms and inflammation index were much more evident in the active group, female group, <40 years old, and newly diagnosed group. C-reactive protein (CRP)[10(2, 33) mg/L vs 3(1, 14) mg/L, Z=-4.49, P<0.01), erythrocyte sedimentation rate (ESR) [(45±33) mm/1 h vs (25±23) mm/1 h, t=-5.82, P<0.01), in the active group were significantly higher than those in the inactive group, while the ESR in female patients was only higher than that in males, but without statistical significant difference. SAA in the young age group, ESR in the newly diagnosed group was significantly higher than that in the other subgroups [19(6, 95) mg/L vs 10(4, 39) mg/L, Z=2.06, P<0.05] [(44±34) mm/1 h vs (32±28) mm/1 h, t=3.77, P<0.01]. Conclusion:The TA patients are mainly young women, and are in active disease when first being diagnosed. The type Ⅴ and Ⅰ are the most common artery involve-ment pattern. Hypertension and tuberculosis are the most frequent complications.

Objective:To compare the diagnostic efficacy of Chinese diagnostic model, the 1990 American College of Rheumatology (ACR) classification criteria and the 2018 ACR new classification criteria (draft) for Takayasu arteritis (TA).Methods:A total of 196 TA patients who came to our hospital from January 1, 2009 to May 31, 2019 in the TA database of the department of rheumatology and immunology, Zhongshan Hospital, Fudan University and 131 patients with other vascular diseases visited during the same period were selected. General characteristics, clinical data, laboratory tests and imaging tests of all patients were collected. Categorical variables were presented as numbers and percentages, between-group differences were analyzed using the χ2 test. Continuous variables were presented as the Mean± SD for a normal distribution or median and interquartile range (IQR) for a non-normal distribution. Between-group differences were analyzed using the Student's t-test or Mann- Whitney test, as appropriate. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy and receiver operating characteristics of the above diagnostic/classification criteria area under the curve were analyzed. P<0.05 was considered significant. Results:In terms of sensitivity, specificity, accuracy, positive predictive value, negative predictive value, and area under receiver operating characteristic curve (ROC), Chinese diagnostic models was 85.7%, 96.2%, 89.9%, 97.1%, 81.5%, 0.909, 1990 ACR criteria was 47.4%, 97.7%, 67.6%, 96.9%, 55.4%, 0.726, 2018 ACR classification criteria was 79.1%, 98.5%, 86.5%, 98.7%, 75.9%, 0.888. The difference between the Chinese diagnostic model and the 2018 ACR criteria in AUC was not statistically significant ( Z=1.186 , P>0.05). The sensitivity, accuracy and diagnostic efficiency of Chinese diagnostic model was the best, that of the 1990 ACR classification criteria was the worst, and the specificity of the 2018 ACR classification criteria was the highest. The Kappa value of the 2018 ACR classification criteria and the Chinese diagnostic model was 0.719, which had good consistency, and the Kappa value of the consistency between the 1990 ACR classification criteria and the Chinese TA diagnostic model was 0.516. Conclusion:The Chinese diagnostic model, which is based on the clinical characteristics of the Chinese TA population, has a good diagnostic efficacy for the Chinese population. The 2018 ACR classification criteria (draft) is highly consistent with the Chinese TA diagnostic model, and can be promoted and applied in practice.

According to the pathological characteristics of symptomatic chronic thoracic and lumbar osteoporotic vertebral fracture (SCOVF), the different clinical treatment methods are selected, including vertebral augmentation, anterior-posterior fixation and fusion, posterior decompression fixation and fusion, and posterior correction osteotomy. However, there is still a lack of a unified understanding on how to choose appropriate treatment method for SCOVF. In order to reflect the new treatment concept and the evidence-based medicine progress of SCOVF in a timely manner and standardize its treatment, the clinical guideline for surgical treatment of SCOVF is formulated in compliance with the principle of scientificity, practicability and advancement and based on the level of evidence-based medicine.

Objective: To study the constitutional features of diseases spectrum of inpatients with liver disease in infectious diseases department of three comprehensive hospitals to provide resource allocation proposition for the construction of Department of Infectious Diseases. Methods: Inpatients data were extracted from the department of infectious diseases of three comprehensive hospitals (Kunming General Hospital of the People's Liberation Army, Yuxi People's Hospital and Dali People's Hospital) between January 2010 to December 2015, and were retrospectively analyzed. The distribution of patients with viral hepatitis (A, B, C, E) and severe liver disease (Severe hepatitis, cirrhosis, liver cancer) was further analyzed in hospitalized patients. Data were analyzed by one-way analysis of variance. A chi-squared test was used for comparison between groups. The change trends of disease constituent ratio in different years were checked by 2 test. Results: Liver disease, tuberculosis and AIDS were the three common diseases of three comprehensive hospitals in Yunnan, accounting for 58.61% of all admissions. However, an inpatients with liver diseases (17.25%, 3555/20606, 95% CI 16.73%-17.77%) were significantly lower than tuberculosis inpatients (33.98%, 7002/20606, 95% CI 33.34%-34.62%). An observations from different hospitals and at different time points showed that the proportion of patients with liver disease was lower than that of tuberculosis patients. The proportion of inpatients with HBV infection showed a downward trend (P < 0.001), whereas the proportions of inpatients with HCV and severe liver diseases showed an increased trend over time (P < 0.001). Conclusion The proportion of inpatients with liver diseases was lower than tuberculosis inpatients in the Department of Infectious Diseases of three comprehensive hospitals. Hence, the paucity of the disease spectrum should be considered for resource allocation in the construction of infectious disease department.

Objective To investigate serum lipid profiles in newly diagnosed patients with polycystic ovary syndrome (PCOS) using lipidomics and correlate these features with hyperinsulinemia and hyperandrogenism associated with PCOS and obesity. Methods 32 newly-diagnosed PCOS women and 34 controls were enrolled and divided into obese and lean subgroups according to the body mass index (BMI). Anthropometric, biochemical, and hormonal parameters were collected. Serum lipid profiles including phospholipids, free fatty acids (FFAs), and bioactive lipids were analyzed using GC-MS and LC-MS. Results PCOS patients, in particular, the obese ones with fatty liver, have abnormal phosphatidylcholine (PC)/lysophospholipid (LPC) metabolism. PC was increased (16∶0, 18∶0, 18∶1, 18∶2, and 20∶4), while LPC was decreased (16∶0, 18∶0, and 18∶1; all P<0.05). Serum polyunsaturated fatty acids (PUFAs), were decreased significantly, and the long chain saturated fatty acid was increased. We also found that insulin stimulated the metabolism of PUFAs, but the androgen inhibits the metabolism of PUFAs by measuring their metabolites. Conclusion PCOS patients have metabolic disorders of phospholipids and PUFAs. Insulin stimulated while androgen inhibited PUFAs metabolism.

Objective To compare the efficacy of proximal femoral anti-rotation nail and artificial femoral head replacement with bone cement in the treatment of intertrochanteric fracture of femur in elderly patients.Methods70 elderly patients with intertrochanteric fracture of femur were selected as the research subjects,and they were randomly divided into the observation group and the control group according to the digital table,35 cases in each group.The observation group was treated with proximal femoral anti-rotation nail,the control group was treated with artificial femoral head replacement with bone cement.The clinical efficacy of the two groups was observed and compared.Results The operation time,intraoperative bleeding volume of the observation group were (52.63±13.72)min,(115.26±35.17)mL,respectively,which were significantly better than those of the control group[(86.69±21.15)min,(328.72±47.62)mL,t=3.98,9.86,all P<0.05].The time of standing and walking after operation in the observation group were (12.36±3.61)d,(17.51±3.60)d,which were longer than those of the control group[(9.42±3.18)d,(15.18±3.55)d],but the differences were not statistically significant(t=1.36,1.08,all P>0.05).There was no significant difference in the Harris hip score 30 months after operation between the two groups(t=0.18,P>0.05),while the Harris hip score of the observation group after 6 and 12 months were higher than those of the control group,the differences were statistically significant(t=9.04,3.75,all P<0.05).ConclusionCompared with artificial femoral head replacement with bone cement,proximal femoral anti-rotation nail for elderly patients with intertrochanteric fracture of femur has more significant effect,it is worthy of clinical promotion.

Objective To observe the morphological changes of carotid artery wall by ultrasonography in patients with Takayasu arteritis,and to evaluate the diagnostic value of contrast-enhanced ultrasonography for active Takayasu arteritis.Methods High-frequency ultrasound technique was used to analyze the morphological changes of the carotid artery in 40 patients.NIH score was used as the gold standard and the complete clinical data and acute phase reactors were recorded.T test,Chi-square test,sensitivity and specificity were calculated for statistical analysis.Results The thickness of carotid artery wall in active group was much more thickened than the non-active group [(2.2±0.6) mm vs (1.8±0.5) mm,t=-2.142,P＜0.05].The CDD [(0.89±0.06) in active group vs (0.95±0.03) in non-active group,t=3.683,P＜0.01] and RDD [(0.17±0.06 in active group vs (0.09±0.05) in non-active group,t=-4.020,P＜0.01] were significantly different between the two groups.The distribution of neovascularization in the carotid artery wall of the active group was more diffuse in the central part of the wall.The sensitivity and specificity of contrast-enhanced ultrasonography to diagnose the active of Takayasu arteritis were 72.7％ and 87.5％ respectively,and the positive predictive value and the negative predictive value were 80.0％ and 82.4％ respectively.Conclusion Contrast-enhanced ultrasonography can be used as an effective way to assess the disease activity of TA patients.