OBJECTIVE To develop a method to construct three dimensional finite element model of nasomaxillary complex,in order to provide the foundation of studying nasomaxillary biomechanics characteristics.METHODS DICOM data from HelixCT were analyzed and reconstructed in software Mimics,then complete constructing three dimensional finite element model of nasomaxillary complex in Ansys.RESULTS The nasomaxillary complex model was similar to original case in structure,which is a high finite element model.CONCLUSION Computer assistant in constructing finite element model from DICOM data is a convenient,exact and efficient method .The nasomaxillay complex finite element model is exact and reproductable,and can provide the foundation of studying biomechanics mechanism of nasomaxillary fracture in otolaryngology.

The surgical treatment of craniofacial malformation is a sophisticated task which needs careful and detailed preoperative planning. However, based on the patient's 2-D CT and X-ray images, the surgeons always feel hard to produce a convincible and satisfying surgical scheme. In this article, a craniofacial surgery simulation system based upon 3-D reconstruction and volume calculation of two eye sockets is presented. By using this system, the surgeon can virtually repose bone fragment according to the D-value between the volumes of two eye sockets. The D-value serves as a guideline to direct the bone reposing. The simulated key steps of real surgical procedure are presented, which demonstrate the efficiency of the system. The contrast images between postoperative and preoperative surgery are also given.
Anthropometry ; Computer Simulation ; Computer-Aided Design ; Craniofacial Abnormalities ; surgery ; Humans ; Imaging, Three-Dimensional ; Orbit ; anatomy & histology ; Prosthesis Design ; Surgery, Computer-Assisted

Objective: Reveal the global expression profile of serum exosomal proteins of Crouzon syndrome patients. Methods: We isolated microvesicles from serum of Crouzon children with a C342Y mutation in FGFR2 by ultracentrifugation, which were further characterized by electron microscopy and immunoblotting. The protein profiling in normal subjects and Crouzon patients was systematically compared by iTRAQ proteomic analysis. Results: The result demonstrated that microvesicles were between 30—100 nm in diameter, round shape with cup-like concavity and expressed exosomal marker tumor susceptibility gene (TSG) 101 and flotillin (Flot) 1. We identified a total number of 62 proteins, among which 22 proteins overlap with ExoCarta database and were different between the Crouzon patient and the normal subject. The Ingenuity Pathway Analysis showed that the functions of these proteins are mostly involved in Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders, which are all related to the clinical manifestations of Crouzon syndrome. In addition, the proteins were focused on the network of "Organismal Injury and Abnormalities, Hematological System Development and Function, Cell-To-Cell Signaling and Interaction" . The central protein FN1 was presented as the key protein in the network. Conclusions Our data demonstrated that serum exosomes harbor informative proteins and FN1 was selected as a potential candidate for its role in promoting osteoblast adhesion, proliferation and mineralization.

Craniosynostosis (CS) is a congenital skeletal disease caused by premature fusion of one or more cranial sutures. According to whether accompanied by injuries in other organ systems besides craniofacial deformity, CS can be divided into syndromic craniosynostosis (SCS) and non-syndromes craniosynostosis (NSC), accounting for 85% and 15% respectively. Especially, SCS can lead to more serious clinical symptoms. The occurrence of CS is influenced by both environmental and genetic factors, including monogenic mutation, chromosome abnormality and gene polymorphism. Common related genes include FGFR1, FGFR2, FGFR3, TWIST1, MSX1, ERF, TCF12. Most of published genetic studies on CS are concentrated in the European population, showing different genetic pathogenesis between SCS and NSC. Studies on molecular genetics of CS is important in the clinical diagnosis, treatment and genetic counseling. We reviewed the research status and progress of the pathogenesis of CS through the development of CS, as well as the genetic studies of SCS and NSC.

Objective:To explore the common pathogenic gene mutation in non-syndromic craniosynostosis in Chinese population.Methods:Patients with non-syndromic craniosynostosis were recruited in Huashan Hospital Affiliated to Fudan University from March 2018 to December 2020. A clinical questionnaire was designed to collect the general information of the patients. The gene panel was designed by entering the keywords craniosynostosis and gene panel in PubMed, extracting all relevant literature from January 1995 to May 2017. The gene library was sequenced on the Illumina HiSeq X platform, and bioinformatic analysis and pathogenic analysis were performed.Results:A total of 237 literatures were reviewed in the PubMed and Ovid databases, and the total sample was 3375 patients, of which 1822 cases (54%) were detected with corresponding mutations, involving 21 pathogenic genes. Based on the mutation detection rate of not less than 0.4%, 12 genes were selected in the gene panel: FGFR2, TWIST1, FGFR3, EFNB1, FGFR1, SKI, POR, RAB23, TCF12, MSX2, SMAD3 and ERF. A total of 109 patients with non-syndromic craniosynostosis were recruited in this study, including 62 males and 47 females; the average age was 2.1 years old. All participants denied family history. The average age at childbearing of father was 28.3 years old and of mother was 26.7 years old. 14 different pathogenic/ probable pathogenic mutation loci were found in the gene sequences of 19 patients. The mutation rate was 17.4%. The 14 mutation varients were distributed in 5 genes (FGFR2, TWIST1 , TCF12, EFNB1 , and FGFR3) . The 14 mutations can be classified into 5 missense mutations, 3 nonsense mutations, 1 splice mutation, 1 frameshift mutation and 4 in-frame deletion mutations, 11 of which have not been reported. These 11 novel mutations were mainly concentrated in two genes, TWIST1 and TCF12. The mutation types included: 3 loss-of-function, 4 frameshift deletions, 3 missense mutations, and 1 frameshift insertion, of which 7 were de novo mutation.Conclusions:TWIST1 and TCF12 are common pathogenic genes in Chinese patients with non-syndromic craniosynostosis.

Objective:To explore the feasibility and safety of the prophylactic optic canal decompression in frontol-orbital fibrous dysplasia surgery by three-dimensional simulation design and computer assisted navigation.Methods:A retrospected study was conducted in Huashan Hospital affiliated to Fudan University.Patients with stable fronto-orbital fibrous dysplasia were recruited from January 2016 to June 2020. Preoperatively, three-dimensional simulation design was used to design the scope of resection. Then a subtotal resection of fibrous dysplasia lesion was performed by computer assisted navigation and reshaping of the orbit rim was achieved by preserving the fronto-orbital bandeau. Meanwhile, the intracanal and intraorbital parts of optic nerve canal decompression was performed. Follow-up of the pre-op and post-op difference of the frontal bulge point, the lateral forehead point and orbitofrontal point of the affected side, the degree of proptosis, visual acuity and fundus were analyzed by paired t test. Results:A total of 7 patients were recruited, including 2 males and 5 females, with an average age of 22.5 years. The average follow-up time was 11.4 months, and the difference in exophthalmos between the two sides improved from an average of (6.7±1.6) mm before operation to an average of(2.9±1.1) mm at 6 months after operation, which was statistically significant ( P<0.001). The difference between the pre-op and post-op of the frontal bulge point on the affected side also improved from (18.1±3.4) mm before surgery to (3.1±3.5)mm( P=0.001) immediately after surgery and (4.0±3.6) mm( P=0.001)at 6 months after surgery. The difference of lateral forehead point improved from(21.4±4.1) mm before surgery to (1.8±1.9) mm( P<0.001) immediately after surgery and (2.5±2.1) mm( P<0.001) at 6 months after surgery, and the difference of orbitofrontal point improved from(12.2±2.5) mm before surgery to (2.3±3.0) m( P=0.004) immediately after surgery and (2.7±2.9) mm( P=0.006) at 6 months after surgery. The average uncorrected visual acuity of the affected side before operation was 4.5, and it was 4.6 6 months after operation, with no statistical difference( P>0.05). Conclusions:Using 3D simulation to design the scope of resection and computer assisted navigation to decompress the optic canal in patients with stable fronto-orbital fibrous dysplasia, which can safely and effectively protect the optic nerve and accurately improve the frontal-orbital shape.

Objective:To explore the feasibility and safety of the prophylactic optic canal decompression in frontol-orbital fibrous dysplasia surgery by three-dimensional simulation design and computer assisted navigation.Methods:A retrospected study was conducted in Huashan Hospital affiliated to Fudan University.Patients with stable fronto-orbital fibrous dysplasia were recruited from January 2016 to June 2020. Preoperatively, three-dimensional simulation design was used to design the scope of resection. Then a subtotal resection of fibrous dysplasia lesion was performed by computer assisted navigation and reshaping of the orbit rim was achieved by preserving the fronto-orbital bandeau. Meanwhile, the intracanal and intraorbital parts of optic nerve canal decompression was performed. Follow-up of the pre-op and post-op difference of the frontal bulge point, the lateral forehead point and orbitofrontal point of the affected side, the degree of proptosis, visual acuity and fundus were analyzed by paired t test. Results:A total of 7 patients were recruited, including 2 males and 5 females, with an average age of 22.5 years. The average follow-up time was 11.4 months, and the difference in exophthalmos between the two sides improved from an average of (6.7±1.6) mm before operation to an average of(2.9±1.1) mm at 6 months after operation, which was statistically significant ( P<0.001). The difference between the pre-op and post-op of the frontal bulge point on the affected side also improved from (18.1±3.4) mm before surgery to (3.1±3.5)mm( P=0.001) immediately after surgery and (4.0±3.6) mm( P=0.001)at 6 months after surgery. The difference of lateral forehead point improved from(21.4±4.1) mm before surgery to (1.8±1.9) mm( P<0.001) immediately after surgery and (2.5±2.1) mm( P<0.001) at 6 months after surgery, and the difference of orbitofrontal point improved from(12.2±2.5) mm before surgery to (2.3±3.0) m( P=0.004) immediately after surgery and (2.7±2.9) mm( P=0.006) at 6 months after surgery. The average uncorrected visual acuity of the affected side before operation was 4.5, and it was 4.6 6 months after operation, with no statistical difference( P>0.05). Conclusions:Using 3D simulation to design the scope of resection and computer assisted navigation to decompress the optic canal in patients with stable fronto-orbital fibrous dysplasia, which can safely and effectively protect the optic nerve and accurately improve the frontal-orbital shape.

Objective:To explore the common pathogenic gene mutation in non-syndromic craniosynostosis in Chinese population.Methods:Patients with non-syndromic craniosynostosis were recruited in Huashan Hospital Affiliated to Fudan University from March 2018 to December 2020. A clinical questionnaire was designed to collect the general information of the patients. The gene panel was designed by entering the keywords craniosynostosis and gene panel in PubMed, extracting all relevant literature from January 1995 to May 2017. The gene library was sequenced on the Illumina HiSeq X platform, and bioinformatic analysis and pathogenic analysis were performed.Results:A total of 237 literatures were reviewed in the PubMed and Ovid databases, and the total sample was 3 375 patients, of which 1 822 cases (54%) were detected with corresponding mutations, involving 21 pathogenic genes. Based on the mutation detection rate of not less than 0.4%, 12 genes were selected in the gene panel: FGFR2, TWIST1, FGFR3, EFNB1, FGFR1, SKI, POR, RAB23, TCF12, MSX2, SMAD3 and ERF. A total of 109 patients with non-syndromic craniosynostosis were recruited in this study, including 62 males and 47 females; the average age was 2.1 years old. All participants denied family history. The average age at childbearing of father was 28.3 years old and of mother was 26.7 years old. Fourteen different pathogenic/probable pathogenic mutation loci were found in the gene sequences of 19 patients. The mutation rate was 17.4%(19/109). The 14 mutation varients were distributed in 5 genes (FGFR2, TWIST1, TCF12, EFNB1, and FGFR3). The 14 mutations can be classified into 5 missense mutations, 3 nonsense mutations, 1 splice mutation, 1 frameshift mutation and 4 in-frame deletion mutations, 11 of which have not been reported. These 11 novel mutations were mainly concentrated in two genes, TWIST1 and TCF12. The mutation types included: 3 loss-of-function, 4 frameshift deletions, 3 missense mutations, and 1 frameshift insertion, of which 7 were de novo mutation.Conclusions:TWIST1 and TCF12 are common pathogenic genes in Chinese patients with non-syndromic craniosynostosis.

Craniosynostosis (CS) is a congenital skeletal disease caused by premature fusion of one or more cranial sutures. According to whether accompanied by injuries in other organ systems besides craniofacial deformity, CS can be divided into syndromic craniosynostosis (SCS) and non-syndromes craniosynostosis (NSC), accounting for 85% and 15% respectively. Especially, SCS can lead to more serious clinical symptoms. The occurrence of CS is influenced by both environmental and genetic factors, including monogenic mutation, chromosome abnormality and gene polymorphism. Common related genes include FGFR1, FGFR2, FGFR3, TWIST1, MSX1, ERF, TCF12. Most of published genetic studies on CS are concentrated in the European population, showing different genetic pathogenesis between SCS and NSC. Studies on molecular genetics of CS is important in the clinical diagnosis, treatment and genetic counseling. We reviewed the research status and progress of the pathogenesis of CS through the development of CS, as well as the genetic studies of SCS and NSC.

Objective:To explore the common pathogenic gene mutation in non-syndromic craniosynostosis in Chinese population.Methods:Patients with non-syndromic craniosynostosis were recruited in Huashan Hospital Affiliated to Fudan University from March 2018 to December 2020. A clinical questionnaire was designed to collect the general information of the patients. The gene panel was designed by entering the keywords craniosynostosis and gene panel in PubMed, extracting all relevant literature from January 1995 to May 2017. The gene library was sequenced on the Illumina HiSeq X platform, and bioinformatic analysis and pathogenic analysis were performed.Results:A total of 237 literatures were reviewed in the PubMed and Ovid databases, and the total sample was 3375 patients, of which 1822 cases (54%) were detected with corresponding mutations, involving 21 pathogenic genes. Based on the mutation detection rate of not less than 0.4%, 12 genes were selected in the gene panel: FGFR2, TWIST1, FGFR3, EFNB1, FGFR1, SKI, POR, RAB23, TCF12, MSX2, SMAD3 and ERF. A total of 109 patients with non-syndromic craniosynostosis were recruited in this study, including 62 males and 47 females; the average age was 2.1 years old. All participants denied family history. The average age at childbearing of father was 28.3 years old and of mother was 26.7 years old. 14 different pathogenic/ probable pathogenic mutation loci were found in the gene sequences of 19 patients. The mutation rate was 17.4%. The 14 mutation varients were distributed in 5 genes (FGFR2, TWIST1 , TCF12, EFNB1 , and FGFR3) . The 14 mutations can be classified into 5 missense mutations, 3 nonsense mutations, 1 splice mutation, 1 frameshift mutation and 4 in-frame deletion mutations, 11 of which have not been reported. These 11 novel mutations were mainly concentrated in two genes, TWIST1 and TCF12. The mutation types included: 3 loss-of-function, 4 frameshift deletions, 3 missense mutations, and 1 frameshift insertion, of which 7 were de novo mutation.Conclusions:TWIST1 and TCF12 are common pathogenic genes in Chinese patients with non-syndromic craniosynostosis.