Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens.

We report a case of syndromic gingival fibromatosis with notable ocular lesions, bilateral congenital cataracts, esotropia, and high myopia of a 21-year-old male patient from China. The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy. Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL) implantation was performed to manage the cataracts in both eyes. Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue. We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease.

Gingival fibromatosis with multiple unusual findings: report of a rare case.

Gingival fibromatosis is a rare disease, especially its syndromic form. Here, we review the literatures on gingival fibromatosis and briefly summarize some characters on clinical, etiological, genetic and histopathological aspects. We also present a rare case of gingival fibromatosis with multiple unusual findings in a 21-year-old man. And we differentiate it from some well-known syndromes including gingival fibromatosis. Maybe it implies a new syndrome within the spectrum of those including gingival fibromatosis.

[Application of computer aided design-computer aided manufacture technique in mandible defect reconstruction with individual titanium prosthesis].

OBJECTIVE: To investigate the application of computer aided design-computer aided manufacture (CAD-CAM) technique in the reconstruction of mandible defect with individual titanium prosthesis. METHODS: Six patients with large mandibular ramus and angle tumor were spiral CT scanned preoperatively, and the CAD-CAM was used to design and make individual titanium prosthesis for reconstructing the mandibular defects after resection of the tumor. The prosthesis were assembled during operation. Postoperative follow-up period was 9 - 38 months. RESULTS: The design and manufacture of titanium prosthesis by use of CAD-CAM technique was convenient and the prosthesis fitted the defects very well. The outline of the face, the occlusion and function were restored. After 9 - 38 months of follow-up, the mandibular symmetry was good. CONCLUSIONS: The application of CAD-CAM provided accurate simulation and fast manufacturing process for the titanium prosthesis in the repair of mandibular defect.

[Application of three dimensional model in evaluating the effect of artificial bone implantation of hard cleft palate on the development of maxilla].

OBJECTIVE: To observe the effect of artificial bone implantation of hard cleft palate on the development of maxilla. METHODS: From January 1997 to December 1999, 40 patients with hard cleft palate were randomly divided into two groups: control group and implantation group (n = 20 each). The patients in the implantation group received an implantation of compound artificial bone of HA-Bone cement. All patients had a follow-up since 16 years old. A three dimensional model was established with computed tomography and rapid prototype technique to analyze the maxilla in three dimension. At the same time, a dentognathic model was employed. RESULTS: There were no differences in the results between the three dimensional and dentognathic models. No difference was found in the development of maxilla in length and height between the control and implantation groups. There were marked differences in the development of maxilla in width between two groups (67.6 mm ± 4.3 mm vs 61.3 mm ± 4.1 mm, 63.5 mm ± 3.9 mm vs 57.3 mm ± 3.1 mm, 26.2 mm ± 1.8 mm vs 26.4 mm ± 1.9 mm, all P < 0.05). The width of maxilla in the implantation group was markedly wider than that in the control group. CONCLUSIONS: The application of three dimensional model for evaluating the development of maxilla is both straightforward and accurate. Bone implantation of hard cleft palate is an obvious boost to the development of maxilla in width. It should be included into a comprehensive orthodontic treatment for patients with hard cleft palate.

[Clinical application of radiotherapy for the treatment of giant vascular malformations in oral and maxillofacial region].

OBJECTIVE: To discuss the clinical use of radiotherapy in the treatment of giant vascular malformation. METHODS: Six patients with giant vascular malformation in oral and maxillofacial region were treated by three dimensional radiation therapy in Department of Stomatology, The Second Affiliated Hospital, School of Medicne, Zhejiang University in the last ten years and the cilinical data were reviewed. The treatment results were evaluated by clinical examination and radiology. RESULTS: No complication was observed during and after the radiotherapy. All patients were satisfied with the aesthetic results. The lesions in MRI were all reduced and even disappeared. There was no sign of recurrence during the follow-up period. CONCLUSIONS: Three dimensional radiotherapy is safe and effective for oral and maxillofical vascular malformation.

[Computer-aided design in double-step distraction osteogenesis of unilateral mandibular segmental defects reconstruction].

OBJECTIVE: To investigate the feasibility of using computer-aided design (CAD) in double-step distraction osteogenesis in the reconstruction of mandibular segmental defects after tumor resection. METHODS: Eight cases of unilateral mandibular segmental defects were reconstructed using distraction osteogenesis secondary to oncologic surgery, with the help of CT and CAD system. The mandibular body was lengthened first, and then the residual defect of mandibular ramus was restored using a distraction device. RESULTS: No incidence of infection or other complications were observed. The maximal amount of the lengthening reached 55 mm in the mandibular body, and 45 mm in the mandibular ramus. The average amount of the lengthening reached 49 mm in the mandibular body, and 36 mm in the mandibular ramus. The aesthetic and functional results of bone lengthening were excellent in all cases. The retractor was removed eight months postoperatively. CONCLUSIONS: Using CAD in double-step distraction osteogenesis in the reconstruction of unilateral mandibular segmental defects has the advantages of precise diagnosis, operation planning and assuring success of operation. It has the disadvantage of a long period for the overall treatment time.

[Study on the effects of overexpression of exogenous Notch1 in tongue squamous cell carcinoma cells on cell growth and expression of epidermal growth factor receptor in vitro].

OBJECTIVE: To investigate the effects of overexpression of exogenous Notch1 in human tongue squamous cell carcinoma (TSCC) cells on cell growth and expression of epidermal growth factor receptor (EGFR) in vitro. METHODS: Human TSCC cell line Tca8113 cells were transiently transfected with the eukaryotic expression plasmid pRAMIC-IRES2-EGFP encoding exogenous intracellular fragment of Notch1 and control plasmid pIRES2-EGFP by Lipofectamine 2000, respectively. Untransfected parental Tca8113 cells served as control. The cell proliferation was evaluated by methyl thiazolyl tetrazolium(MTT) assay. The apoptosis was assessed by flow cytometry. The mRNA and protein levels of Notch1 and EGFR in Tca8113 cells were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and Western blot. The expression of EGFR protein in Tca8113 cells was detected by immunocytochemistry. RESULTS: MTT assay showed that the cell proliferation of Tca8113 cells transfected with pRAMIC-IRES2-EGFP was significantly inhibited as compared with controls (P < 0.05). After transfected with pRAMIC-IRES2-EGFP for 48 h, the apoptosis rate of Tca8113 cells was significantly higher than those of Tca8113 cells transfected with pIRES2-EGFP and untransfected Tca8113 cells (P < 0.05), and Notch1 expression was significantly increased at mRNA (P < 0.05) and protein (P < 0.05) levels, while EGFR expression was significantly decreased at mRNA (P < 0.05) and protein (P < 0.05) levels. CONCLUSION: Overexpression of exogenous Notch1 may inhibit cell growth and down-regulate EGFR expression in TSCC cells.

Downregulation of Notch1 and its potential correlation with epidermal growth factor receptor signalling in tongue squamous cell carcinoma.

We investigated the expression of Notch1 in human oral squamous cell carcinoma (SCC) and explored its potential correlation with epidermal growth factor receptor (EGFR) signalling in oral SCC. Paraffin sections of primary SCC of the tongue and normal mucosa were screened immunohistochemically for Notch1 and EGFR proteins. Human SCC of the tongue Tca8113 cells were treated with AG1478 to block EGFR signalling, and were transfected with the vector that encodes the specific short hairpin RNA (shRNA) that targets EGFR. In SCC of the tongue expression of Notch1 was cancelled except in sites of squamous metaplasia where it was raised, while expression of EGFR was found in the peripheral cells of carcinomas, but not in sites of squamous metaplasia. In normal tongue mucosa, Notch1 was expressed mainly in the stratum corneum, but not in the stratum basale, while EGFR was expressed mainly in the stratum basale, but not in the stratum granulosum or stratum corneum. The blocking of EGFR signalling or the silencing of the EGFR gene resulted in upregulation of Notch1 at mRNA and protein levels in Tca8113 cells. These observations suggest that downregulation of Notch1 in oral SCC may be associated with upregulation of EGFR signalling.

[Effects of epidermal growth factor receptor gene silencing mediated by short hairpin RNA on proliferation and apoptosis of human tongue carcinoma cells].

OBJECTIVE: To investigate the effects of epidermal growth factor receptor (EGFR) gene silencing mediated by short hairpin RNA (shRNA) on proliferation and apoptosis of human tongue carcinoma cells. METHODS: shRNA eukaryotic expression vector targeting the specific sequence of human EGFR gene was constructed and termed shEGFR. The control vector targeting the unrelated sequence was also constructed and termed shNC. The vectors were transiently transfected into Tca8113 cells of human tongue squamous cell carcinoma by Lipofectamine 2000, respectively. The mRNA and protein levels of EGFR in Tca8113 cells were detected by reverse transcriptase polymerase chain reaction (RT-PCR) and Western blotting. The cell proliferation of Tca8113 cells was evaluated by methyl thiazolyl tetrazolium (MTT) assay. The apoptosis of Tca8113 cells was assessed by flow cytometry. RESULTS: EGFR expression in Tca8113 cells transfected with shEGFR were obviously decreased at mRNA level (81.6%) and protein level (72.0%) (P < 0.05) 48 h after transfection of shEGFR compared with untransfected Tca8113 cells. The proliferation activity of Tca8113 cells transfected with shEGFR was significantly lower than that of Tca8113 cells transfected with shNC and untransfected Tca8113 cells (P < 0.05). The early apoptotic rate of Tca8113 cells transfected with shEGFR was significantly higher than that of Tca8113 cells transfected with shNC and untransfected Tca8113 cells [(39.4 +/- 7.7)%, (4.3 +/- 1.2)%, (2.5 +/- 0.9)%, P < 0.05] 48 h after transfection of shEGFR. CONCLUSIONS: EGFR gene silencing mediated by shRNA may inhibit cell proliferation and induce apoptosis in human tongue carcinoma cells.

[Expression of Notch1 and epidermal growth factor receptor in human tongue squamous cell carcinoma and precancerous lesion].

OBJECTIVE: To investigate the expression of Notch1 in human tongue squamous carcinoma (TSCC) and precancerous lesion, and to explore the potential relation between Notch1 and epidermal growth factor receptor (EGFR). METHODS: The expression of Notch1 and EGFR was detected in human TSCC (n = 41), tongue leukoplakia (LP) (n = 39) and normal tongue mucosa (n = 7) by immunohistochemistry. RESULTS: In normal tongue mucosa and LP, the positive staining of Notch1 was mainly distributed in stratum corneum, partially in stratum granulosum and stratum spinosum, but not in stratum basale, while the positive staining of EGFR was mainly distributed in stratum basale, rarely in stratum spinosum, but not in stratum granulosum and stratum corneum. In TSCC, Notch1 expression was mainly distributed in locations of squamous metaplasia, but not in peripheral cells of carcinomas, while EGFR expression was detected mainly in peripheral cells of carcinomas, but not in locations of squamous metaplasia. CONCLUSION: Notch1 promotes the differentiation of epithelial cells in tongue mucosa and acts as a tumor suppressor in TSCC. EGFR may act as a negative regulator of Notch1 expression in epithelium of tongue mucosa and TSCC, for maintaining cell proliferation and promoting the tumorigenesis and progression of TSCC.

[Application of saliva protein fingerprints in the diagnosis of oral squamous cell cancer by surface enhanced laser desorption ionization time of flight mass].

OBJECTIVE: To screen proteomic markers of oral precancerous lesion, local and metastatic squamous cell cancer from human saliva. METHODS: Seventeen patients with oral squamous cell carcinoma, six cases with leukoplakia, seven cases with local metastasis and 15 healthy subjects were selected. All patients were diagnosed of T(1)N(0)M(0) and did not accept any preoperative treatment. Saliva samples were collected preoperatively, combined in the chips (CM-10) for two copies, and tested by surface enhanced laser desorption/ionization (SELDI) mass spectrometry respectively. Chips were detected by the PBS-II plus mass spectrometer reader. Mass accuracy was calibrated by the all-in-one peptide molecular mass standard (ciphergen ciosystems). RESULTS: The differentiated pattern between oral squamous cell carcinoma and healthy people consisted of four biomarker peaks of 5797, 2902, 3883, 4951 (mass/charge) with the sensitivity of 88.24% and specificity of 93.33%. The differentiated pattern between oral squamous cell carcinoma and leukoplakia consisted of three biomarker peaks of 5818, 4617 and 3884 with the sensitivity of 100.00% and specificity of 100.00%. The differentiated pattern between oral squamous cell carcinoma and oral cancer with local metastatic consisted of three biomarker peaks of 55 809 and 5383 (mass/charge) with the sensitivity of 94.12% and specificity of 85.71%. CONCLUSIONS: The biomarkers selected by SELDI could help in the adjuvant early diagnosis of oral cancer and forecasting the transformation from leukoplakia to oral cancer and metastasis.

[Cross-talk between Notch1 and epidermal growth factor receptor signalling in regulating cell proliferation of human tongue squamous carcinoma cells].

OBJECTIVE: To investigate the cross-talk between Notch1 and epidermal growth factor receptor (EGFR) signaling in regulating the cellular proliferation of human tongue squamous cell carcinoma (SCC). METHODS: Human tongue SCC cell line Tca8113 cells was transiently transfected with the vector encoding exogenous intracellular fragment of Notch1 and the vector encoding the specific short hairpin RNA (shRNA) targeting EGFR respectively and were treated by AG1478, an inhibitor of receptor tyrosine kinases, for elucidating the effects of constitutive activation, EGFR gene silencing and blocking EGFR signaling upon cellular proliferation and expression of Notch1 and EGFR. The mRNA and protein levels of Notch1 and EGFR were detected by reverse transcriptase polymerase chain reaction (RT-PCR) and Western blot, respectively. The cellular proliferation was evaluated by methyl thiazolyl tetrazolium (MTT) assay. RESULTS: Constitutive activation of Notch1 resulted in inhibition of cellular proliferation, and up-regulation of Notch1 (1.102 +/- 0.135, 0.243 +/- 0.032, P < 0.05) but down-regulation of EGFR (0.083 +/- 0.009, 0.605 +/- 0.075, P < 0.05) at the the mRNA and protein levels. Silencing of EGFR gene resulted in inhibition of cell proliferation, and down-regulation of EGFR (0.148 +/- 0.019, 1.175 +/- 0.132, P < 0.05) but up-regulation of Notch1 (0.978 +/- 0.115, 0.083 +/- 0.009, P < 0.05) at the mRNA and protein levels. Blocking EGFR signaling had no significant effect upon EGFR expression (P > 0.05), but resulted in inhibition of cellular proliferation and up-regulation of Notch1 (P < 0.05) at the mRNA and protein levels. CONCLUSION: There might be a cross-talk of bi-directional control between Notch1 and EGFR signaling in regulating the cellular proliferation of human tongue SCC cells.

[Soft tissue profile changes in micrognathia after distraction osteogenesis].

OBJECTIVE: To evaluate the effect of distraction osteogenesis for severe micrognathia by comparing the pre- and post-operative profile and mentolabial relationship. METHODS: 16 cases underwent temporal-mandibular joint plasty and temporal fasciomuscular flap transfer. The mandibular distraction began at the 5th postoperative day at a rate of 0.8 mm a day, two times a day. Bony and soft tissue cephalometry were performed before and after operation. T-test was used to study the change after distraction osteogenesis. RESULTS: There were significant differences in facial convexity, lower facial height, lower lip length, inter-labial distance, the ratio of lip to mental, the distance from lip to esthetic plane, the depth of mentolabial crease and the thickness of mental soft tissue. CONCLUSIONS: Mandibular distraction osteogenesis can markedly improve the soft tissue profile of the middle and lower face for severe micrognathia.

[Double-step distraction osteogenesis in the reconstruction of unilateral mandibular segmental defects after tumor resection].

OBJECTIVE: To investigate the application of double-step distraction osteogenesis in the reconstruction of mandibular segmental defects after tumor resection. METHODS: From January 2002 to December 2006, six cases of post-tumor unilateral mandibular segmental defects were reconstructed using distraction osteogenesis. The mandibular body was lengthened first, following by mandibular ramus distraction. RESULTS: No infection or other complication was observed. The maximal distraction length reached 55 millimeter in the mandibular body, and 42 millimeter in the mandibular ramus. The average distraction length was 52 millimeter in the mandibular body, and 34 millimeter in the mandibular ramus. Both the aesthetic and functional result was excellent in all cases. CONCLUSIONS: Double-step distraction osteogenesis is effective and easily performed in the reconstruction of unilateral mandibular segmental defects with less morbidities and complications. There is no need for donor site. However, the treatment period is relatively long with three staged operations.

[Application of computer aided design/computer aided manufactured techniques in mandible defect reconstruction].

OBJECTIVE: To investigate the application of CAD/CAM technique in reconstruction of mandible defect. METHODS: Before surgery, three-dimensional computed tomography was performed in 23 patients with mandible lesions, then the CT data were transformed into a readable format to produce facsimile models by using rapid prototyping (RP) techniques. When individual mandibular models were produced, evaluation and surgical simulation were performed on the model, which included measuring range of mandible lesions, prefabrication of mandibular reconstructive titanium plates or distractors, ascertaining precise position of transport disk, and shaping the free vascularized fibula, etc. According to the simulation, the mandible reconstruction was accomplished in operation. RESULTS: The surgical simulation on the model produced by CAD/CAM technique highly resembled the real operation. The measurements of the lesion on the model were completely correspondent with those found in operation, and the prefabricated plates and distractor fitted the contour of the mandible. The operation time shortened and the results were satisfactory. The post-operation X-ray showed that the mandible was symmetrical and the maxillofacial contour maintained. CONCLUSIONS: CAD/CAM technique was very helpful for simulation of anatomically complicated mandible defect. By preoperative simulation of the mandible and lesions, surgeons are able to improve or refine surgical planning so that better results can be assured.

Deep lingual arterial chemoembolization of tongue carcinoma with microcapsuled anticancer drug.

OBJECTIVE: Microcapsule chemoembolism is a promising treatment of tumors. We describe a deep lingual arterial embolization of tongue carcinoma with microcapsuled carboplatinum. METHODS: Lingual artery cast specimens from cadavers were microscopically examined, and 78 patients with tongue cancer were recruited and treated with the deep lingual arterial embolization therapy. RESULTS: Microcapsule embolism occurred approximately at the fifth or sixth level of the deep lingual artery branches. The five-year survival rate was 88.5% (69 out of 78), and the ten-year survival rate 52.6% (41 out of 78). CONCLUSION: The deep lingual arterial embolization of tongue carcinoma with microcapsuled carboplatinum is an effective therapy to treat carcinoma in mid-margin or mid-body of the tongue.

[Application of CAD/CAM techniques in mandible large-scale defect and reconstruction with vascularized fibular bone graft].

OBJECTIVE: To exploit computer-aided design and computer-aided manufactured (CAD/CAM) techniques and application in the reconstruction of mandible large-scale defect with vascularized fibular bone graft. METHODS: Before actually performing surgery, three-dimensional(3D) computed tomography(CT) was performed in 7 patients with mandibular large-scale defects, and 3D CT images were acquired by processing CT data. Then the CT data were transformed into a readable format and transferred to produce facsimile models by means of using rapid prototyping(RP) techniques. When individual mandibular models and enantiomorphous models were produced, evaluation and surgical simulation was performed in model, which included measuring range of mandible lesions, prefabrication of mandibular reconstructive titanium palate, precise position of titanium screws, shaping the free vascularized fibula by mandibular, etc. According to the simulations, the mandible reconstructions were finished in operation. RESULT: CAD/CAM techniques and application can distinctly display the mandibular lesions and ambient relationships, which is very useful for clinical assessment and surgical planning. Particular advantages were the unlimited trials with the imaging method, and the feeling of reality with the model method. The actual operative time was shortened, and surgery results were satisfactory with few complications. CONCLUSION: CAD/CAM techniques are very helpful for simulation of mandible large-scale defect with complicated anatomical and reconstructive problems. By preoperative simulation of procedures, surgeons can improve or refine treatment planning using this method and improve postoperative results.

[The application of three dimensional craniomaxillofacial model in the restoration of mandibular bone defects with vascularized fibular autograft].

OBJECTIVE: To evaluate the effect of applying the three dimensional craniomaxillofacial model technique in the restoration of mandibular defects with vascularized fibular autograft. METHODS: Three dimensional craniomaxillofacial models of 24 patients with mandibular defects were achieved by CT scan and rapid prototype technique. Surgery simulation and individual prefabricated titanium board were designed on the models. Vascularized fibular autograft was obtained, remodeled with titanium implant based upon preoperative surgery simulation, and implanted into the site with mandibular defect. RESULTS: By using three-dimensional craniomaxillofacial model, all fibular flaps survived without complication in all 24 patients. Bony union was achieved between the implanted fibula and the mandible. First intention of the wound was achieved. The appearance of the mandibular bone was well recovered shown by 3-dimensional CT scan. CONCLUSION: Based upon the preoperative surgery simulation with three dimensional craniomaxillofacial model, vascularized fibular autograft has many advantages for mandible reconstruction and represents the first choice for the head and neck surgeon.