OBJECTIVE: To analyze the clinical phenotype and pathogenic mechanism of the ARSL gene variant in a fetus with nasal bone aplasia. METHODS: A 34-year-old pregnant woman who attended Quzhou Maternal and Child Health Care Hospital on January 3, 2023 was selected as the study subject. Whole exome sequencing (WES) was performed on the fetus. Bioinformatics analysis was carried out to identify and prioritize candidate gene variants, followed by Sanger sequencing for familial validation. A mutant plasmid expression vector was constructed and subsequently transfected into HEK293T cells to preliminarily investigate the pathogenetic mechanism of the identified variant. Additionally, a comprehensive review of literature was conducted to systematically summarize the associated clinical phenotypes. This study was approved by the Medical Ethics Committee of Quzhou Maternal and Child Health Care Hospital (Ethics No.: KY-2023-11). RESULTS: WES revealed that the fetus harbored a c.827del (p.L276Rfs*48) variant of the ARSL gene, for which its mother was heterozygous. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic(PVS1+PM2_Supporting). In vitro cellular function studies demonstrated that this variant can result in a substantial decrease in the expression of mutant mRNA, thereby preventing the production of normal ARSL protein. Clinical phenotypes resulting from ARSL gene variants exhibited considerable diversity, with nasal hypoplasia being the most common manifestation. CONCLUSION The c.827del (p.L276Rfs*48) variant of the ARSL gene can lead to degradation of mRNA via the nonsense-mediated mRNA decay pathway, resulting in reduced levels of ARSL protein. The pathogenetic mechanism underlying the ARSL gene variant may be associated with its haploinsufficiency effect.
Humans ; Female ; Pregnancy ; Adult ; Frameshift Mutation ; HEK293 Cells ; Nasal Bone/abnormalities* ; Fetus/abnormalities* ; Exome Sequencing

Although small in size, the eyeballs are extremely important in function, and are delicate and complex in structure. With the wide application of acupuncture for eye diseases and the high frequency of use of intra-orbital points, the incidence of acupuncture accidents increases accordingly in treatment. We reported two recent accident cases, retinal tear and ciliochoroidal detachment that occurred during the regular operation of acupuncture and acupoint injection at intra-orbital points, in order to strengthen people's awareness of acupuncture accidents caused by acupuncture at the points in the orbital region, and enhance the sound development and comprehensive promotion of acupuncture in treatment of eye diseases.
Humans ; Acupuncture Therapy/adverse effects* ; Acupuncture Points ; Male ; Adult ; Female ; Middle Aged ; Orbit ; Retinal Perforations/therapy*

Alveolar bone reconstruction simulation is an effective means for quantifying orthodontics, but currently, it is not possible to directly obtain human alveolar bone material models for simulation. This study introduces a prediction method for the equivalent shear modulus of three-dimensional random porous materials, integrating the first-order Ogden hyperelastic model to construct a computed tomography (CT) based porous hyperelastic Ogden model (CT-PHO) for human alveolar bone. Model parameters are derived by combining results from micro-CT, nanoindentation experiments, and uniaxial compression tests. Compared to previous predictive models, the CT-PHO model shows a lower root mean square error (RMSE) under all bone density conditions. Simulation results using the CT-PHO model parameters in uniaxial compression experiments demonstrate more accurate prediction of the mechanical behavior of alveolar bone under compression. Further prediction and validation with different individual human alveolar bone samples yield accurate results, confirming the generality of the CT-PHO model. The study suggests that the CT-PHO model proposed in this paper can estimate the material properties of human alveolar bone and may eventually be used for bone reconstruction simulations to guide clinical treatment.
Humans ; Tomography, X-Ray Computed/methods* ; Porosity ; Alveolar Process/physiology* ; Bone Density ; Computer Simulation ; Elasticity ; X-Ray Microtomography ; Stress, Mechanical ; Finite Element Analysis ; Models, Biological

OBJECTIVE: To investigate the effectiveness of posterior lateral perforator flap in lower limb combined with free fibula for maxillary tissue defect repair. METHODS: Between December 2018 and December 2023, 16 patients with the maxillary malignant tumors were admitted. There were 10 males and 6 females, with an average age of 64.3 years (range, 54-75 years). There were 7 cases of maxillary gingival cancer, 5 cases of hard palate cancer, and 4 cases of maxillary sinus cancer. According to the 2017 American Joint Committee on Cancer (AJCC) TNM stage, there were 8 cases of stage Ⅲ, 6 cases of stage Ⅳa, and 2 cases of stage Ⅳb. After resection of the lesion, the remaining maxillary defects were classified into class Ⅱa in 3 cases, class Ⅱb in 5 cases, and class Ⅲb in 8 cases according to Brown's classification. The size of soft tissue defects ranged from 4 cm×3 cm to 8 cm×6 cm. The posterior lateral perforator flap in lower limb in size of 5 cm×4 cm-9 cm×7 cm were harvested to repair soft tissue defects, and free fibula in length of 6-11 cm were used to repair bone defects. The donor sites of the lower limb were sutured directly (6 cases) or repaired with free skin grafting (10 cases). Six patients with positive lymph node pathology were treated with radiotherapy after operation. At 6 and 12 months after operation, the self-assessment was performed by the University of Washington Quality of Survival Questionnaire Form (QUW-4) in five dimensions (facial appearance, swallowing function, chewing function, speech function, and mouth opening), and swallowing function was evaluated by using the Kubota water swallowing test. RESULTS: Postoperative pathological examination showed that all patients were squamous cell carcinoma. One patient who was treated with radiotherapy developed osteomyelitis and 1 patient developed venous crisis of skin flap. The rest of the flaps and all skin grafts survived, and the wounds healed by first intention. All patients were followed up 1-5 years (mean, 2.8 years). Two patients died of local recurrence of the tumor at the 4th and 5th years after operation, respectively. Except for the chewing function score and total score at 6 months after operation, which showed significant differences compared to preoperative scores ( P<0.05), there was no significant difference in other QUW-4 scale scores between different time points ( P>0.05). The patients' swallowing function evaluated by Kubota water swallowing test reached normal in 4 cases, suspicious in 9 cases, and abnormal in 3 cases at 6 months after operation, and 10, 6, and 0 cases at 12 months after operation, respectively. The swallowing function at 12 months was significantly better than that at 6 months ( Z=-2.382, P=0.017). CONCLUSION The posterior lateral perforator flap in the lower limb combined with free fibula to repair maxillary tissue defects can repair soft and hard tissue defects at the same time, so that the patient's facial appearance, swallowing function, chewing function, speech function, and mouth opening are satisfactorily restored and the mid-term effectiveness is good.
Humans ; Middle Aged ; Male ; Female ; Fibula/surgery* ; Aged ; Perforator Flap ; Plastic Surgery Procedures/methods* ; Maxilla/surgery* ; Maxillary Neoplasms/surgery* ; Free Tissue Flaps/transplantation* ; Lower Extremity/surgery* ; Bone Transplantation/methods* ; Treatment Outcome

OBJECTIVE: To explore the clinical characteristics, diagnosis, and treatment methods of one patient with idiopathic multicentric Castleman disease (iMCD), in order to strengthen the understanding of this rare disease. METHODS: The clinical manifestations, diagnosis and treatment process, and prognosis of one patient with iMCD admitted to our hospital were retrospectively analyzed. RESULTS: The patient was a 45-year-old female with swollen bilateral orbit, edema of lower limbs, multiple serosal cavity effusion, thrombocytopenia, renal insufficiency, and multiple lymph node enlargement. Lymph node biopsy suggested mixed type of Castleman disease. Combined with pathology, imaging and laboratory examination, the patient was finally diagnosed with mixed type of iMCD. After six cycles of R-COP regimen chemotherapy, the patient achieved complete remission. CONCLUSIONS Castleman disease with renal and orbit involvement is rare in clinic and easy to be misdiagnosed. It should be distinguished from lymphoma. The patient has been treated with R-COP regimen, and obtained good short-term efficacy.
Humans ; Castleman Disease/diagnosis* ; Middle Aged ; Female ; Retrospective Studies ; Orbit/pathology* ; Kidney/pathology*

OBJECTIVE: To evaluate the clinical and radiographic efficacy of micro crestal flap-alveolar ridge preservation following extraction of mandibular molars with severe periodontitis compared with natural healing, and to preliminarily propose the surgical indication. METHODS: A retrospective analysis was conducted on clinical data from patients with mandibular molars with severe periodontitis either receiving micro crestal flap-alveolar ridge preservation (MCF-ARP group) or undergoing natural healing in department of periodontology, Peking University School and Hospital of Stomatology from September 2013 to June 2021. Cone-beam computed tomography scannings performed before/immediately after extraction (as baseline) and repeated before implantation (after the extraction socket healing) were used to measure the ridge width, height and volumetric changes of the sockets, and the proportion of guided bone regeneration (GBR) during implant therapy were compared between the two groups. RESULTS: Between baseline and healing, significant differences in changes of MCF-ARP group [(8.34±2.81) mm] and natural healing group [(3.82±3.58) mm] in the distances from mandibular canal to center of the tooth socket were recorded (P < 0.001). The ridge width at 1 mm below the most coronal aspect of the crest increased by (3.50±4.88) mm in the MCF-ARP group but decreased by (0.16±5.70) mm in the natural healing group, respectively (P=0.019). After healing, the MCF-ARP group showed the distances from mandibular canal to center of the tooth socket >8 mm in all the cases, with 97.1% exceeding 10 mm. Natural healing group displayed 23.1% of the cases with center bone height < 8 mm and 61.5% exceeding 10 mm. Volume changes at the buccal and lingual aspect as well as the total socket were significantly greater in the MCF-ARP group compared with natural healing group (P < 0.001).At the time of implantation, GBR was performed in 5 out of 68 subjects (8.3%) in the MCF-ARP group, whereas 8 out of 26 subjects (30.8%) in the natural healing group required GBR, reflecting significant difference (P=0.003). CONCLUSION In the sites of mandibular molars with severe periodontitis, when the distances from mandibular canal to center of the tooth socket was not enough (less than 7 mm), clinicians could consider performing the micro crestal flap-alveolar ridge preservation to achieve augmentation for alveolar ridge and reduce the proportion of guided bone regeneration during implant therapy to reduce the difficulty and risk of injuries during implant therapy.
Humans ; Tooth Extraction ; Retrospective Studies ; Surgical Flaps ; Molar/surgery* ; Mandible/surgery* ; Female ; Periodontitis/surgery* ; Male ; Adult ; Middle Aged ; Cone-Beam Computed Tomography ; Alveolar Ridge Augmentation/methods* ; Alveolar Process/surgery* ; Tooth Socket/diagnostic imaging* ; Dental Implantation, Endosseous/methods*

OBJECTIVE: To compare the influence of different emergence profile of implants in mandibular molar on the peri-implant soft tissue. METHODS: Forty-four implants were divided into two equal groups by mucosal thickness, ≥2 mm (group A) or < 2 mm (group B), and were randomly included in the test group and the control group. In the control group, the patients were treated by a prosthesis with no transmucosal modifications (subgroups A1 and B1). In groups A1 and B1, the prostheses maintained the original emergence profile of the healing abutment. In the test group, the prostheses were designed based on a width-to-height ratio (W/H) of 1.3 ∶ 1 (subgroups A2 and B2). In group A2, the buccal transmucosal configuration design was slightly concave, and in group B2, the prostheses were designed with convex buccal transmucosal configuration. Assessments were made before delivery of the definitive restoration (T0), one month (T1) and 12 months (T2) after loading. The soft tissue and prosthesis information were obtained by intraoral scan and were converted to digital models. The digital models of different time were superimposed together. Buccal mucosal W/H, emergence angle (EA) and buccal mucosal margin recession (ΔGM) were measured. RESULTS: One year after loading, the buccal mucosal margin recession in the test group (groups A2 and B2) was significantly lower than that in the control group (groups A1 and B1). The ΔGM in group A2 was significantly lower than that in group A1 (P=0.033), but in groups B1 and B2, it was not significantly different. The W/H in group A2 increased significantly one month after loading, but remained stable at one year. In the A1 group, the W/H changed little from initial to one month, but increased significantly at one year after loading. The W/H in group B2 remained stable from the beginning to one year, while in group B1, it changed little one month after loading, but increased significantly by one year. CONCLUSION When the initial mucosal thickness was ≥2 mm, the slightly concave prosthesis designed based on the biological W/H significantly maintained the level of buccal mucosa. When the mucosal thickness was < 2 mm, the slightly convex prosthesis design maintained a more stable W/H over one year.
Humans ; Mandible/surgery* ; Molar/surgery* ; Male ; Female ; Adult ; Middle Aged ; Dental Prosthesis Design ; Dental Implants ; Dental Implantation, Endosseous/methods*

OBJECTIVE: To evaluate the clinical outcomes and define the indications for a one-stage mandibular reconstruction technique that combines iliac bone flaps with immediate implant-based dentures, and to assess both the accuracy of surgical planning and the long-term success of the procedure. METHODS: A total of ten patients underwent the procedure at Peking University Hospital of Stomatology between June 2020 and August 2023. The preoperative biopsy pathology of all the patients confirmed a benign tumor. In this technique, iliac bone flaps were used for mandibular reconstruction, and immediate implant-based dentures were placed during the same surgical session. Various outcome measures were evaluated, including the accuracy of the surgical reconstruction, implant placement deviations (entry point, apical point, depth, and angle), and long-term outcomes, such as cervical bone resorption, implant survival, and the cumulative survival rate. RESULTS: Thirty-eight implants were successfully inserted into the iliac flaps of the ten patients. The median follow-up duration was 23.5 months, and no significant complications occurred during the follow-up period, such as infections, titanium plate exposure, implant loosening, or damage to the implants and dentures. The accuracy of preoperative virtual surgical planning (VSP) was highly reliable. The repeatability of the VSP model compared to the postoperative reconstructed mandible was as follows: 67.82% ±10.16% within 1 mm, 82.14% ±6.58% within 2 mm, and 90.61% ±4.62% within 3 mm. The average maximum deviation from the plan was (6.10±0.89) mm, with an average overall deviation of (1.14±0.31) mm. For the implants, deviations in critical parameters were as follows: entry point deviation was (2.02±0.58) mm, apical point deviation was (2.25± 0.66) mm, depth deviation was (1.26±0.51) mm, and angular deviation was 1.84°±1.10°. The implant survival rate remained 100% during the follow-up, with a cumulative survival rate of 97.37% from 1 to 4 years. Average cervical bone resorption was 0.94 mm. CONCLUSION The combination of iliac bone flaps with immediate implant-based dentures for one-stage mandibular reconstruction demonstrated pro-mising clinical outcomes, including high implant survival and minimal complications. This technique proved to be safe and reliable for mandibular reconstruction. However, further studies with larger sample sizes and longer follow-up periods are necessary to confirm the long-term efficacy and optimal indications for this procedure.
Humans ; Mandibular Reconstruction/methods* ; Male ; Ilium/surgery* ; Female ; Middle Aged ; Surgical Flaps ; Adult ; Mandible/surgery* ; Aged ; Dental Implantation, Endosseous/methods* ; Immediate Dental Implant Loading/methods* ; Bone Transplantation/methods* ; Dental Implants

OBJECTIVE: To investigate the clinical application effect of the along-axis extraction method in the extraction of impacted mandibular third molars (IMTM) and to compare the biomechanical characteristics of different root extraction techniques through three-dimensional finite element analysis. METHODS: A total of 68 patients requiring IMTM extraction were enrolled and randomly divided into two groups: the experimental group underwent the along-axis extraction method, while the control group underwent the traditional buccal bone removal and root extraction method. The duration of the procedure, intraoperative and postoperative complications were recorded. Three-dimensional finite element analysis further revealed the stress distribution in the tooth root, jawbone, periodontal ligament, and mandibular canal during different root extraction methods. RESULTS: The duration of root extraction, pain score and swelling on the first postoperative day in the control group were (7.87±3.90) min, 4.62±1.90 and (11.37±5.12) mm, respectively, which were significantly higher than those in the experimental group [(5.74±2.37) min, 3.87±1.19 and (7.22±3.39) mm, respectively]. The root fracture rate and lingual bone plate fracture rate in the control group were significantly higher than those in the experimental group (P < 0.05). The results of finite element analysis showed that the control group ' s lingual al-veolar bone had the higher peak equivalent stress, and lingual bone plate fracture was prone to occur. The periodontal ligament of the experimental group had the higher equivalent stress value, making it more likely to rip and more likely to cause root displacement. When subjected to force, the experimental group' s instantaneous root displacement was higher, but the control group ' s root displacement was more pronounced in the lingual direction. CONCLUSION This study suggests that the along-axis extraction me-thod can not only effectively shorten the operative time but also reduce postoperative complications after extraction of impacted mandibular third molars, and enhance the safety of the operation and the patient' s comfort. Three-dimensional finite element analysis shows the biomechanical characteristics of various root extraction techniques visually, serves as a valuable guide for choosing and refining clinical surgical techniques, and confirms that extracting a tooth' s root along its long axis yields better clinical results.
Humans ; Finite Element Analysis ; Tooth, Impacted/surgery* ; Tooth Extraction/methods* ; Molar, Third/surgery* ; Mandible/surgery* ; Imaging, Three-Dimensional ; Female ; Adult ; Biomechanical Phenomena ; Male ; Tooth Root/surgery* ; Young Adult ; Adolescent

OBJECTIVE: To develop an original-mirror alignment associated deep learning algorithm for intelligent registration of three-dimensional maxillofacial point cloud data, by utilizing a dynamic graph-based registration network model (maxillofacial dynamic graph registration network, MDGR-Net), and to provide a valuable reference for digital design and analysis in clinical dental applications. METHODS: Four hundred clinical patients without significant deformities were recruited from Peking University School of Stomatology from October 2018 to October 2022. Through data augmentation, a total of 2 000 three-dimensional maxillofacial datasets were generated for training and testing the MDGR-Net algorithm. These were divided into a training set (1 400 cases), a validation set (200 cases), and an internal test set (200 cases). The MDGR-Net model constructed feature vectors for key points in both original and mirror point clouds (X, Y), established correspondences between key points in the X and Y point clouds based on these feature vectors, and calculated rotation and translation matrices using singular value decomposition (SVD). Utilizing the MDGR-Net model, intelligent registration of the original and mirror point clouds were achieved, resulting in a combined point cloud. The principal component analysis (PCA) algorithm was applied to this combined point cloud to obtain the symmetry reference plane associated with the MDGR-Net methodology. Model evaluation for the translation and rotation matrices on the test set was performed using the coefficient of determination (R²). Angle error evaluations for the three-dimensional maxillofacial symmetry reference planes were constructed using the MDGR-Net-associated method and the "ground truth" iterative closest point (ICP)-associated method were conducted on 200 cases in the internal test set and 40 cases in an external test set. RESULTS: Based on testing with the three-dimensional maxillofacial data from the 200-case internal test set, the MDGR-Net model achieved an R² value of 0.91 for the rotation matrix and 0.98 for the translation matrix. The average angle error on the internal and external test sets were 0.84°±0.55° and 0.58°±0.43°, respectively. The construction of the three-dimensional maxillofacial symmetry reference plane for 40 clinical cases took only 3 seconds, with the model performing optimally in the patients with skeletal Class Ⅲ malocclusion, high angle cases, and Angle Class Ⅲ orthodontic patients. CONCLUSION This study proposed the MDGR-Net association method based on intelligent point cloud registration as a novel solution for constructing three-dimensional maxillofacial symmetry reference planes in clinical dental applications, which can significantly enhance diagnostic and therapeutic efficiency and outcomes, while reduce expert dependence.
Humans ; Deep Learning ; Algorithms ; Imaging, Three-Dimensional/methods* ; Male ; Female ; Maxilla/diagnostic imaging* ; Adult