Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Chronic inflammation induced by Helicobacter pylori is considered to be one of the main causes of gastric cancer,and CagA is a main virulence factor of H.pylori.The study aimed to investigate the role and mechanism of CagA in host inflammatory response.Mass spectrometry was used to identify the interacting proteins of CagA in AGS cells.By immunoprecipitation and immunofluorescence,the interaction was validated.Pathway expression was detected by immunoblotting after knockdown by using siRNA,and mRNA levels of inflammatory cytokines were detected by quantitative PCR.CagA-induced inflammatory responses were detected in clinical samples using hemoglobin-eosin staining(H&E).Data showed that CagA interacted with SHARPIN.And CagA activated the NF-κB signaling pathway and upregulated the mRNA and protein levels of the inflammatory cytokines IL-6,IL-8,and TNF-α,as compared with the CagA knockout strain(all P<0.05).Knockdown of SHARPIN by siRNA reduced inflammation levels and partially inhibit NF-κB signaling.In clinical samples,CagA-positive samples exhibited stronger inflammatory responses.To sum up,CagA promoted the host inflammatory response,and CagA-induced inflammatory response was reduced when SHARPIN was partially inhibited,suggesting that CagA activates the NF-κB signaling pathway through binding to SHARPIN.

Objective:To explore the role of digital three-dimensional printing technology and multifunctional occlusal splint in the treatment of mandibular fracture in children.Methods:From January 2006 to January 2022, 42 children with mandibular fracture were treated by Department of Stomatology, in The First Affiliated Hospital of Bengbu Medical College, including 25 males and 17 females. The patients, aged from 4 to 12 years, with the median age was 10 years old, were divided into observation group (22 cases) and routine group (20 cases) according to the treatment methods. In the observation group, the multifunctional occlusal splint was made before operation, and the CT data of the children were imported into Mimics software in".dicom"format, and the displaced mandible was virtually reset. The jaw reduction model was made by three-dimensional printing, and the surgical operation was simulated on the reduction model to determine the model and position of the internal fixation device and shape it. During the operation, the fracture was reduced and fixed according to the preoperative design. The conventional group was treated with open reduction and internal fixation of mandibular fracture by traditional methods, and the clinical application value was compared and analyzed through the intraoperative situation, occlusal relationship, and follow-up of the two groups.Results:The total intraoperative bleeding volume [(30.25±4.02) ml] and surgical time [(64.3±9.2) min] in the observation group were significantly lower than those in the conventional group [(35.13±5.69) ml and (84.6±13.9) min, respectively] ( F=6.18, P=0.003; F=1.32, P=0.001). The excellent and good rate of occlusal relationship in the observation group [96% (21/22)] was significantly higher than that in the conventional group [85% (17/20)] ( F=4.27, P=0.039). The incidence of complications, the observation group, 1 case of poor occlusion, 1 case of postoperative infection; In the routine group, there were 3 cases with poor occlusion, 1 case with nerve injury, 1 case with root injury and 1 case with tooth germ injury. Conclusions:The application of digitization three-dimensional printing technology combined with multifunctional occlusal splint in children′s mandibular fracture is minimally invasive, safe, efficient and accurate, and the clinical effect is good.

Background Long-term occupational polycyclic aromatic hydrocarbons (PAHs) exposure is an important risk factor for cognitive impairment. At the same time, it can also cause a decrease of brain-derived neurotrophic factor (BDNF). However, it is not clear whether BDNF plays a key role in the cognitive impairment of workers caused by occupational PAHs exposure. Objective To analyze the correlation between the levels of PAHs in the plasma of coke oven workers and cognitive impairment, and to explore the possible mediating effect of plasma BDNF level on the relationship between PAHs and cognitive impairment. Methods A cross-sectional survey was carried out to select 138 pairs of workers from a coking plant (exposure group) and an energy plant (control group) in a large enterprise in Taiyuan, and the matching variables included age, education level and smoking status. The basic data of the workers were collected by questionnaire. The cognitive function of the workers was assessed by the Montreal Cognitive Assessment (MoCA) scale. Fasting elbow venous blood was collected, the plasma concentrations of 16 PAHs were determined by high performance gas chromatography-mass spectrometry (GC-MS), and the plasma concentration of BDNF was detected by enzyme-linked immunosorbent assay (ELISA). Multiple linear regression model was used to analyze the relationship between 12 PAHs levels in plasma and MoCA scores, and Bootstrap method was used to analyze the mediating effect of BDNF in the relationship between these two indicators. Results The average (\begin{document}$\bar x \pm s $\end{document}) age of workers in the two groups was (48.46±5.04) years, the length of service was (21.45±9.78) years, and 58.7% of the participants reported their education level at secondary vocational school, high school, and above. The median level (25th and 75th percentiles) [M(P₂₅, P₇₅)] of plasma Σ₁₂PAHs concentration of workers in the exposure group [20.937 (9.454, 38.387) μg·L⁻¹] was significantly higher than that of the control group [9.997 (4.952, 23.770)μg·L⁻¹] and the MoCA score (22.82±2.38) of the exposure group was significantly lower than that of the control group (24.60±5.67) (P<0.05). The plasma BDNF showed no significant difference between the exposure group [(29.99±9.80) μg·L⁻¹] and the control group [(31.48±9.09) μg·L⁻¹](P>0.05). Taking plasma PAHs as independent variable and MoCA score as dependent variable, after adjusting selected covariates, the results of multiple linear regression model showed that the MoCA score changed by −0.020 (95%CI: −0.035 - −0.005) for every 1 μg·L⁻¹ increase of plasma Σ₁₂PAHs. Low (<P₃₃), medium ( P₃₃~P₆₆) and high (>P₆₆) dummy variables were set according to the intertertile boundaries (8.31, 23.76) μg·L⁻¹ of the plasma level of Σ₁₂PAH of the workers. The change of MoCA score in the high concentration group versus the low concentration group was −1.167 (95%CI: −1.866 - −0.467). The MoCA score changed by 0.066 (95%CI: 0.012 - 0.119) for each 1 μg·L⁻¹ increase in plasma BDNF level. The results of dichotomous logistic regression analysis showed that the risk of cognitive impairment in the high concentration group was 2.635 (95% CI: 1.085 - 6.398) times higher than that in the low concentration group. The results of mediating effect analysis showed that plasma BDNF level was an intermediate variable between PAHs and cognitive impairment, and 45.50% of PAHs-induced cognitive impairment risk was mediated by reduced BDNF level. Conclusion The level of plasma PAHs in coke oven workers is negatively correlated with MoCA score, and PAHs may mediate cognitive impairment by reducing plasma BDNF level.

Radiotherapy plays an important role in the treatment of all stages of pancreatic cancer, and some therapeutic effects have been obtained. At present, it needs to be considered and practiced in many aspects that how to play the role of radiotherapy in the treatment of pancreatic cancer. It is related to the choice of dose mode, the accuracy of irradiation, the cooperation of other treatment methods and other factors. The emergence of precision radiotherapy technology and the subsequent change in the idea of radiotherapy will further improve the role of radiotherapy in the treatment of pancreatic cancer. Based on the relevant literatures at home and abroad and our own experience, this paper reviews the role of precision radiotherapy for pancreatic cancer.

Objective:The aim of this study was to explore the application of maxillary osteotomy plate and positioning guide plate in maxillary Le Fort Ⅰ osteotomy to eliminate the postoperative error caused by condylar displacement.Methods:Patients suffered from skeletal malocclusion and needed Le Fort Ⅰ osteotomy between January 2018 and November 2020 were selected from the Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Bengbu Medical College. All patients were scanned with 64 slice spiral CT. The DICOM format data were analyzed using the Simplant software to reconstruct the virtual three-dimensional model of the jaw before operation. Then, the measurement of indexes and the maxillary Le Fort Ⅰ osteotomy were carried out on the virtual three-dimensional model, respectively. 3D-printed osteotomy guide plate and positioning guide plate were used to determine the osteotomy line and the position of maxillary advancement. 3D-printed tooth supported occlusal plate was used to support the mandibular sagittal split and retraction. The differences of 10 indexes between the two groups (virtual operation and surgery) were analyzed by paired t test using SPSS 22.0. Results:A total of 8 patients (5 males and 3 females) needed maxillary Le Fort Ⅰ osteotomy aged from 18 to 39 years old were recorded. The deviation of age in these patients was 24.8. The 3D-printed guide plate and tooth supporting occlusal plate were positioned accurately in surgery. All the operations were successful with primary healing of the incision and stable occlusion, and without joint clicking. There was no significant difference on the 10 indexes between the groups of virtual operation and surgery ( P>0.05). Conclusions:The application of maxillary osteotomy plate and positioning guide plate can effectively and accurately control the three-dimensional movement of the maxilla and improve the precision of maxillary Le fort Ⅰ osteotomy in orthognathic surgery, making the surgical effect highly consistent with the preoperative design.

Objective:The aim of this study was to explore the application of maxillary osteotomy plate and positioning guide plate in maxillary Le Fort Ⅰ osteotomy to eliminate the postoperative error caused by condylar displacement.Methods:Patients suffered from skeletal malocclusion and needed Le Fort Ⅰ osteotomy between January 2018 and November 2020 were selected from the Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Bengbu Medical College. All patients were scanned with 64 slice spiral CT. The DICOM format data were analyzed using the Simplant software to reconstruct the virtual three-dimensional model of the jaw before operation. Then, the measurement of indexes and the maxillary Le Fort Ⅰ osteotomy were carried out on the virtual three-dimensional model, respectively. 3D-printed osteotomy guide plate and positioning guide plate were used to determine the osteotomy line and the position of maxillary advancement. 3D-printed tooth supported occlusal plate was used to support the mandibular sagittal split and retraction. The differences of 10 indexes between the two groups (virtual operation and surgery) were analyzed by paired t test using SPSS 22.0. Results:A total of 8 patients (5 males and 3 females) needed maxillary Le Fort Ⅰ osteotomy aged from 18 to 39 years old were recorded. The deviation of age in these patients was 24.8. The 3D-printed guide plate and tooth supporting occlusal plate were positioned accurately in surgery. All the operations were successful with primary healing of the incision and stable occlusion, and without joint clicking. There was no significant difference on the 10 indexes between the groups of virtual operation and surgery ( P>0.05). Conclusions:The application of maxillary osteotomy plate and positioning guide plate can effectively and accurately control the three-dimensional movement of the maxilla and improve the precision of maxillary Le fort Ⅰ osteotomy in orthognathic surgery, making the surgical effect highly consistent with the preoperative design.

Objective:To explore the application value of digital three-dimensional(3D) reconstruction technology in the repair of oral and maxillofacial defects with superficial inferior epigastric artery (SIEA) flap.Methods:Twelve cases of oral cancer patients, including 8 males and 4 females; aged (57.4±12.6) years, were selected from the Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Bengbu Medical College from January 2018 to October 2019 and were proposed to repair with SIEA flap. There were 10 cases of squamous cell carcinoma, one case of adenoid cystic carcinoma and 1 case of mucinous epidermal carcinoma. The data were imported into AW4.7 software for post-processing. The left or right dominant donor area was selected to clarify the origin, diameter, alignment, and location of penetration point of the flap blood supply, and digital 3D reconstruction technology was used to guide the flap preoperative design.Results:Eleven cases were repaired by SIEA flap in 12 patients, one case was repaired by superficial iliac artery flap because the source artery was undiscovered, one case had venous vascular crisis after surgery, and the rest of the flap survived. In 11 patients repaired with SIEA flap, there was no significant difference between the preoperative SIEA diameter measured by CTA [(1.0±0.3) mm] and the actual measured value [(1.1±0.3) mm] ( P>0.05). The follow-up was 6 to 12 months, with an average of 10 months, and the donor-receiver areas were all healed in phase Ⅰ. No obvious complications occurred, and the abdominal scar was hidden. Conclusions:In the SIEA flap repair oral and maxillofacial defect reconstruction surgery, the use of digital 3D reconstruction technology can objectively reflect the diameter and the location of the superficial artery of the abdominal wall before surgery, effectively reduce the difficulty and risk of flap surgery.

Epilepsy is common clinically, which is a type of chronic disease.It is a transient brain dysfunction caused by sudden abnormal discharge of brain neurons.At present, there is still some controversy about the etiology of epilepsy.With the deepening of clinical researches on epilepsy, genetic and biological studies have shown that mutations in genes encoding ion channels in the nucleus of neurons may lead to changes in membrane channel proteins and changes in channel properties and structures are closely related with epilepsy.Sodium-controlling channel proteins play a very important role in epilepsy.They can control the changes of cell currents by turning them on and off to regulate the discharge of brain neurons.This review mainly discussed the correlation between the SCN9A gene encoding sodium ion channel Nav1.7 and the onset of epilepsy.

Objective To preliminarily evaluate the efficacy and safety of intensity-modulated radiotherapy (IMRT) in the treatment of inoperable stage ⅣA thymoma.Methods A retrospective analysis of 15 patients with inoperable stage ⅣA thymoma receiving IMRT from January 2010 to December 2017 was performed.Among them,9 patients were male and 6 female,aged 31-83 years with a medianof 59 years.The dose of radiotherapy was 50 Gy/60 Gy/70 Gy/ 15-20 fractions for PTV/CTV/GTV.The short-term efficacy,overall survival rate and adverse reactions were analyzed.Results The follow-up rate was 100％.The median follow-up time was 48 months.The short-term partial remission rate was 93％(14/15).The 1-,3-and 5-year overall survival rates were 100％,75％ and 75％,respectively.One patient presented with grade 3 hematological reaction.Four patients died of tumors.Conclusion Preliminary findings demonstrate that IMRT is an efficacious and safe treatment of stage ⅣA thymoma,which can be applied for patients with unresectable thymoma.