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OBJECTIVE@#To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing.@*RESULTS@#Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons.@*CONCLUSION@#The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
Subject(s)
Humans , DNA Copy Number Variations , Facies , Hirschsprung Disease , Intellectual Disability/genetics , Microcephaly/genetics , Zinc Finger E-box Binding Homeobox 2/geneticsABSTRACT
<p><b>OBJECTIVE</b>To compare the photosynthetic characteristics difference of different ploidy Rhodiola sachalinensis germplasm and provide the scientific basis for their cultivation.</p><p><b>METHOD</b>LI-6400/XT photosynthesis system was used to measure leaf light response curve and CO2 response curve of diploid and autotetraploid. Biomass, leaf area, stomatal characteristics and chlorophyll content differences were compared in the study.</p><p><b>RESULT</b>Stomata of the two germplasms were open during daytime obviously, and stomata conductance responded to the changes of light intensity and CO2 concentration which was not consistent with the characteristics of CAM (crassulacean acid metabolism) plants. Light compensation point of autotetraploid was significantly lower than that of the diploid, and light saturation points of both germplam were close, and their light saturation points were near 500 micromol x m(-2) x s(-1). Quantum efficiency of autotetraploid was significantly higher than the diploid, and the net photosynthetic rate of autotetraploid significantly higher than the diploid when light intensity was higher than 500 micromol x m(-2) x s(-1). Stomata conductance, transpiration rate of autotetraploid was also significantly higher than that of diploid. Biomass, leaf area, stomata diameter and chlorophyll content of autotetraploid were much higher than that of diploid, while the stomata density of autotetraploid was less than diploid.</p><p><b>CONCLUSION</b>The results above provide scientific basis for the cultivation of different ploidy Rh. sachalinensi germplasm.</p>
Subject(s)
Carbon Dioxide , Metabolism , Photosynthesis , Physiology , Ploidies , Rhodiola , MetabolismABSTRACT
Objective To explore a method of large cranial bone defect reconstructed by titanium implant with computer aided design(CAD)/computer aided manufacture(CAM)technique.Methods From April 2006 to June 2008,7 cases of cranial bone defect due to tumor and trauma were admitted.The data of skull bone defects were obtained by CT.The resin model was designed and manufactured with rapid prototyping technique.Results The CT data could be used by image software directly.The resin model was manufactured accurately by RP technique.The titanium implant design could be completed by CAD/CAM.7 patients achieved one stage healing.After a follow-up of 6 months to 1 year,cranial bone defect was reconstructed satisfactorily.Conclusion Individual design and repair of large cranial bone defect with CAD/CAM technique is worth extending application clinically.It is a quite ideal and very simple method for the surgical treatment of the cranial bone defect.
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Objective To explore the location of the centre of resistance for the maxillary complex in cleft lip and palate by the use of finite element analysis. Methods Combining spiral CT scanning technology with the three-dimensional finite element method, a three-dimensional FEM model of LeFort Ⅰ , Ⅱ , and Ⅲ complex and soft tissue in cleft lip and palate was developed for analysis. Anteriorly and inferiorly directed forces of 9.8N were applied at five different levels parallel to the functional occlusal plane and four different levels perpendicular to the functional occlusal plane, respectively.For each loading condition, horizontal and vertical displacements of different anatomic points in the complex and on the maxillary dentition were analysed. Location of the centre of resistance in different osteotomy complex were studied. Results The resistant center of the LeFort Ⅱ complex in cleft lip and palate was located on intersection between basis nasi and medium of apertura piriforms vertically,apex of the canine and posterior point of the first bicuspid horizontally. The resistant center of the LeFort Ⅲ complex in cleft lip and palate was located on intersection between anterior of the nasion and medium of apertura piriforms vertically, posterior point of the first molar and first bicuspid horizontally. Conclusion Knowledge of the resistant center of different osteotomy complex could establish a basis for biomechanical studies of craniofacial complex distraction osteogenesis in cleft lip and palate.
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Objective To improve the surgical treatment of square mandible deformity. Methods Based on cephalometric and facial feature, an integrated therapeutic project was designed. Through an oral approach the bilateral prominent mandibular angles were reseeted. Meanwhile, genioplasty was applied to correct chin deformity. Results From March 2000 to December 2006, 18 cases of square mandible with chin deformity were corrected with this procedure. The postoperative appearance was improved greatly after 3～6 months. Beautiful chin outline was reconstructed in esthetical standard. Mentolabial sulcus became natural and harmonious. Conclusion Mandible angle osteotomy combined with genioplasty is an ideal methods to recontour square mandible with chin deformity. It is beneficial to whole facial con-tour improvement.
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OBJECTIVE To study multiple factors on bone graft healing of mandibular reconstruction. METHODS Patients were divided into two groups: healing group(31 cases) and healing delayed group(10 cases).By comparison between two groups,the factors on wound healing after bone grafting were studied. RESULTS In patient′s age and sex,bone graft type and size,and history of operation on bone graft done,there were no differences between two groups.Extraoral and intraoral passage was the important factor to two groups,P=0.000. CONCLUSIONS It is important for us to treat wound carefully while bone graft is carried with extraoral and intraoral passage.
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Objective To discuss the way of open reduction and internal fixation for fractured condylar neck and mandible ramus via intraoral approach aiming to avoid the facial incision. Methods Fifteen cases (17 sides) with mandibular condyle fractures underwent open reduction and osteosynthesis with plates and screws. After the mandibular ramus was under vertical osteotomy with an oscillating saw, the posterior border bone block of mandibular ramus as well as the free condyle neck were taken out. The fractured condyle neck and the posterior border bone block of mandibular ramus were fixated with a titanium miniplate in vitro. The reunion bone was implanted and reposited in the mouth incision. Of all, two cases suffered fracture of the condyle neck in the other hospital when they received esthetic surgery and resection of prominent mandible angle (PMA). Results Anatomic reduction was achieved in all cases, without damage to facial nerve and major auricular nerve or salivary fistula. There were slight bony resorption and good temporomandibular joint function one year after surgery, with range of mouth opening for 25-40 mm (mean 35.8 mm). Two cases regained their occlusion before their PMA operation. One case had premature contact of the buccal teeth,with 1 mm diverging to medline of the incisor teeth. Intraoral approach not only could avoid large facial scars and facial nerve injury, but also allow visualization of the occlusion during the procedure. Conclusions As more and more consideration is taken to cosmetology, the transoral approach is a reliable surgical alternative for fractures of the condyle neck, without leaving extensive visible scars or damaging facial nerve. The disadvantage is vertical osteotomy of the posterior border of the mandibular ramus.
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<p><b>OBJECTIVE</b>To investigate the possibility of closing bony palatal cleft and lengthening hard palate.</p><p><b>METHODS</b>Ten 6-month mongrel dogs were divided into three groups: the control(n = 2), sham control (n = 2) and the experimental group(n = 6). An 8 mm x 25 mm posterior hard palatal cleft was made surgically by bilateral and anterior osteotomies of the palate in six experimental dogs. After a 5-day latency period, a distraction device made of NiTi-shape memory alloy was placed in position for continuous extension of the hard palate. Each distractor was kept in place for 8 weeks after the cleft was closed.</p><p><b>RESULTS</b>The posterior cleft was closed in 2-3 weeks period of the distraction, while the anterior cleft was narrowed to 1-2 mm in width. The hard palate was lengthened backward obviously. The new bone was observed in the area after the distraction.</p><p><b>CONCLUSION</b>The above-mentioned technique may be an effective technique for bony repair of the cleft palate.</p>
Subject(s)
Animals , Dogs , Cleft Palate , General Surgery , Disease Models, Animal , Osteogenesis, Distraction , Methods , Treatment OutcomeABSTRACT
Objective To pursue a more efficient and effective treatment for cleft lip and palate deformities. Methods Patients with unilateral complete cleft lip and palate at their age of 9 years after were chosen for simultaneous cleft alveolar repair and nasal deformity correction. Muco-periosteal pocket and iliacgranular bone was prepared, and bone grafting was performed conventionally. At the same time of iliac cancellous bone harvesting, a cortical plate was taken and sculpted into a strut of 18 mm in length, 6 mm in width, and 1.5 mm in thickness. A flying bird incision was made at the alar ram and across columella in a V-shape. Then the alar cartilage was detached from the overlying skin, a socket was made at the site of anterior nasal spine. The strut was inserted into the socket between the two medial crura of the alar cartilage. The medial crura was lift 3 mm above the superior edge of the strut, and mattress suture technique was used to secure the bilateral medial crura to the strut graft. Results 24 patients were treated by this technique. All the patients healed uneventfully. Depressed alar base, tilted columella and lower nasal tip were corrected satisfactorily. Conclusion There is no interference in simultaneous cleft alveolar bone grafting and rhinoplasty. Septum strut can provide favorable support for tilted nasal structure and satisfactorily correct nasal deformities. Simultaneous with alveolar grafting, it is much easier in harvesting, and the time of anesthesia and operation is also decreased.[
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In order to measure and analyze three dimensional masticatory muscle force vectors in craniofacial region, the multiresolution method based on wavelet pyramid was used for the fusion of cranio jaw facial CT and MRI image, then these images were visualized. The results showed that the area of physiological cross section (PCS) and the maximum muscle force were different during functioning in the masticatory muscles system. The various masticatory muscle forces or various sides in the same muscle were also different in the three dimensional directions. The results suggested that determination of three dimensional masticatory muscle vectors is feasible by CT and MRI fusion image technology in craniofacial region, and can provide significant results for the basic research in the masticatory muscle system.
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cases of Warthin tumor in parotid gland were collected, the selection of operating style and personal experience in treatment were introduced. The results showed that most of the patients were senior man, the site of the tumors was all in parotid gland, the majority of the tumor was single nodule with exception of some patient who had a multiple nature. Tumor recurrence was found in patients with improper method. The results suggested that for patients who are suspected of Warthin tumor,careful physical examination and B Ultrosonic scan are necessary for both sides of parotid gland. Different operating style should be considered according to the differences of tumor site and number.
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Objective To construct recombinant adenovirus vector carrying vascular endothelial growth factor 165(Ad-VEGF165),amplify the adenovirus vector in 293T cells,transfect Ad-VEGF165 into the bone marrow stromal cells(bMSCs) of Wistar rats,and then to assay the expression of VEGF165.Methods VEGF165 obtained by PCR was digested and inserted into adenovirus shuttle plasmid pAdTrack-CMV to generate recombinant plasmid pAdTrack-VEGF165,and then the Pme I-linearized plasmid pAdTrack-VEGF165 was electroporated into E.coli BJ5183 cells that had been electroporated adenovirus backbone plasmid pAdEasy-1.The identified recombinant plasmid pAdEasy-VEGF165 DNA was digested with Pac I and transfected into 293T cells to package adenovirus,followed by identification of the recombinant adenovirus by means of observation of the enhanced green fluorescence protein(EGFP) expression under fluorescent microscope.After amplified in 293T cells,the obtained adenovirus were transfected into 293T cells again,and EGFP expression was detected.Ad-VEGF165 transfected bMSCs were cultured in vitro.The expression of VEGF165 in bMSCs after transfection was determined by observing the expression of EGFP and detected by RT-PCR.ELISA method was applied to assay the secretion of VEGF165.Results Recombinant adenoviral VEGF165 was constructed successfully,which was confirmed by restriction enzyme digestion,gene sequencing and EGFP expression.EGFP expression could be observed under fluorescent microscope,and the expression of VEGF165 was confirmed by RT-PCR.ELISA analysis showed the quantity of expression of VEGF165 in transfection group was higher than that in control group(P