Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome.

A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9 of PTCH1. I-Tasser and PyMol analyses indicated that the mutated protein patched homolog 1 (PTCH1) lacked 12 transmembrane domains and the intracellular and extracellular rings of ECD2 compared with the wild-type protein, resulting in a remarkably different structure from that of the wild-type protein. This case extends our knowledge of the mutation spectrum of NBCCS.

Comparison of application of three dimensional microscope and optical microscope in oral and maxillofacial vascular anastomosis / 口腔疾病防治

Objective@#To investigate the application value of 3D microscope in vascular anastomosis in oral and maxillofacial surgery, to provide a reference for clinicians. @*Methods @#Eighty-seven cases of free flap reconstruction in oral and maxillofacial surgery were retrospectively included, including 30 cases in the 3D microscope group and 57 cases in the optical microscope group. The differences in intraoperative vascular anastomosis time, postoperative flap survival rate and doctor evaluation scores between the 3D microscope group and the optical microscope group were compared and statistically analyzed, and the feasibility of using three-dimensional microscope in surgery was evaluated. @*Results @#The arterial anastomosis time was (26.53±3.83) min/root in the 3D microscope group and (24.88 ± 2.97) min/root in the optical microscope group, and the difference was statistically significant (P<0.05). The venous anastomosis time was (30.68 ± 3.51) min/root in the three-dimensional microscope group and (28.70 ± 2.91) min/root in the optical microscope group, and the difference was statistically significant (P<0.05). There was no significant difference in the survival rate of flaps between the 3D microscope group (n = 28, 93.33%) and the optical microscope group (n = 53, 92.98%) (P>0.05). The doctor's evaluation scores of visual fatigue, training and learning, operative difficulty index, image sharing in the three-dimensional microscope group were higher than those in the optical microscope group, and the differences were statistically significant (P<0.05). @* Conclusion @# 3D microscope has good reliability and safety in surgery, a strong sense of three-dimensionality, and the convenience of teaching and training. It can be well applied to vascular anastomosis in oral and maxillofacial surgery.

Clinical analysis of 21 cases of IgG4-related diseases / 口腔疾病防治

Objective@# To summarize the clinical manifestations of IgG4-related diseases in the head and neck, explore treatment methods.@*Methods @#The clinical data of 21 patients diagnosed with IgG4-related diseases were retrospectively analyzed. The clinical data and the results of glucocorticoid and immunosuppressive therapy were studied retrospectively.@* Results@#All patients had swollen sclerotic masses, and CT showed irregular high-density masses with uniform enhancement in the enlarged glands. Some patients had mucosal thickening and mass-like changes in theoral cavity, nose, sinuses, throat and other tissues, and most of the patients had cervical lymphadenopathy and elevated serum IgG4 levels (≥ 1.35 g/L). Histopathological examination of affected exosine glands and affected mucosa and lymph nodes in all patients showed infiltration of lymphocytes, plasma cells and IgG4+ plasma cells. In 21 patients, the mass in the affected glands and mucosa (including head, neck and other tissues) disappeared, and the clinical symptoms were relieved after the application of glucocorticoids. However, with a reduction in glucocorticoids, the mass recurred or even worsened.@*Conclusion @#For patients with a single mass in the submandibular gland, parotid gland and other salivary glands, as well as lymph node enlargement, CT is the first choice to identify the nature of gland neoplasms. Combined with pathological examination, related auxiliary examination and peripheral blood examination are also needed to obtain a definitive diagnosis. Glucocorticoid therapy is used to achieve a good prognosis, and long-term follow-up and timely adjustment of medication regimens are required.

[Expression and clinical significance of BTG-1 in 78 patients with oral squamous cell carcinoma].

PURPOSE: To investigate the expression and clinical significance of B cell translocation gene 1 (BTG1) in oral squamous cell carcinoma(OSCC). METHODS: Immunohistochemical staining was used to detect the expression of BTG1 protein in 78 cases of OSCC tissues, 78 adjacent tissues, 20 normal oral mucosa tissues, and 80 cervical lymph nodes. Western blot and real-time quantitative PCR were used to detect BTG1 protein and mRNA expression levels in 78 OSCC tissues and adjacent tissues. Kaplan-Meier survival analysis, Log rank test and Cox regression analysis were performed with SPSS 21.0 software package. RESULTS: The expression level of BTG1 in OSCC and cervical positive lymph nodes was significantly lower than that in normal tissues and negative lymph nodes adjacent to the cancer, and the expression of BTG1 in poorly differentiated OSCC was significantly lower than that in highly differentiated OSCC (P<0.05); Survival analysis showed the progression-free survival (PFS) and overall survival time(OS) of BTG1 low-expression group were significantly lower than those of high-expression group (P<0.05). Cox regression analysis showed that the degree of tumor differentiation, cervical lymph node metastasis, and BTG1 expression all affected patients' prognosis. CONCLUSIONS: BTG1 is lowerly expressed in OSCC, with expression related to TNM stage and differentiation of OSCC but no relation with gender, age, and tumor location, including that BTG1 may be involved in the occurrence, development and prognosis of OSCC.

Outcomes of surgical treatment of 29 patients with stages Ⅱ-Ⅲ bisphosphonate-related osteonecrosis of the jaw / 口腔疾病防治

Objective@# To examine the outcome of surgical treatment in patients with stages Ⅱ-Ⅲ bisphosphonate-related osteonecrosis of the jaw. @*Methods@#Twenty-nine patients with bisphosphonate-related osteonecrosis of the jaw were examined. The patients were followed up for more than 6 months, and the treatment outcome was reviewed. @*Results@# After curettage of local lesions, 19 out of the 21 patients were cured, and 2 were relieved of symptoms. Six patients underwent subtotal resection of the maxilla, and the symptoms disappeared completely after the surgery. Two patients underwent partial resection of the mandible and recovered.@*Conclusion@#Surgical debridement is an effective measure for the treatment of patients with bisphosphonate-related osteonecrosis of the jaw in stages Ⅱ-Ⅲ. In most cases, curettage of local lesions via the intraoral approach can completely remove sequestrum and inflammatory granulomatous tissue. Subtotal maxillary resection or partial mandible resection is performed when the bone death reaches the level of the maxillary sinus floor or continues to the mandible. By timely surgical intervention, the bone lesion is removed to maintain the sterile, active bone microenvironment locally.

Clinical report of cheek mass after injection and filling of hyaluronic acid in the cheek / 口腔疾病防治

Objective@#To investigate the clinical characteristics, differential diagnosis and treatment of cheek mass caused by hyaluronic acid injection. @*Methods@#From March 2014 to December 2018, data from 5 patients with cheek masses caused by cosmetic fillings admitted to the First Hospital of Shanxi Medical University were collected, and their clinical, imaging, surgical and pathological features were summarized. @*Results@#All 5 patients were young females with a history of facial hyaluronic acid filling injection. Their clinical features were buccal and facial nodular masses, all of which were treated with surgery. The pathological report was fibrous adipose tissue with fat necrosis, and chronic inflammatory cell infiltration was observed in the interstitium. After the operation, the face shape was basically symmetrical, and there were no symptoms such as infection, limited mouth opening or facial paralysis.@* Conclusion @#The injection of facial hyaluronic acid may cause complications of nodular masses in the cheek, and intraoral resection is an effective treatment with good prognosis.