The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated. One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
Calcium-Transporting ATPases/*genetics ; DNA Mutational Analysis ; Pemphigus, Benign Familial/*genetics ; Sequence Deletion

BACKGROUND:Hip’s anatomy structure is complex, and the traditional two-dimensional imaging, such as X-ray film or CT scan, is susceptible to image overlap and other soft tissue. As a result, there are some limitations in the diagnosis of hip disease. The digital model is built based on reverse engineering and rapid prototyping. It is comprehensive, intuitive and accurate of the stereo configuration of the hip and the spatial relations of other parts’ anatomical structures. This study has a broad application prospect. OBJECTIVE:To reconstruct the personalized three-dimensional entity model of the hip bone with computer aided technology. METHODS: The human hips were scanned with a portable three-dimensional laser scanner, and then the point cloud data of the hips were gotten. The point cloud was processed and the three-dimensional model reconstruction was carried out by using the engineering software Geomagic and the computer aided software CimatronE. Three-dimensional print of hip was completed and the model was gotten, which was consistent with the geometry of hip bone, through the rapid prototyping machine. RESULTS AND CONCLUSION:A model with good geometric similarity and biomechanical characteristics was built by digital modeling method based on reverse engineering and rapid prototyping. This way of digital modeling provided the basis for digital manufacturing of artificial hip, virtual assembly, stress analysis and surgical simulation.

Objective To investigate the relationship between negative acute phase proteins and chronic urticaria (CU).Methods Fifty patients with CU were enrolled into this study,and divided into three grades,i.e.,mild (grade 1),moderate (grade 2) and severe (grade 3) according to symptoms.Twenty-eight health checkup examinees served as the control group.Immunoturbidimetry was performed to determine serum levels of prealbumin (PA) and transferrin (TRF).Enzyme-linked immunosorbent assay was conducted to measure serum levels of insulinlike growth factor-1 (IGF-1) and tumor necrosis factor-α (TNF-α).Statistical analysis was carried out to assess differences in these indices between these two groups,the relationship among these indices and between these indices and disease severity.Results Compared with the control group,the patients with CU showed reduced serum levels of PA ((229.99 ± 54.16) vs.(272.06 ± 36.42) mg/L,t =3.667,P ＜ 0.05) and IGF-1 ((177.23 ± 46.48) vs.(239.88 ± 45.16) μg/L,t =5.748,P＜ 0.05),but higher serum levels of TNF-α ((25.39 ± 11.01) vs.(14.13 ± 6.12) ng/L,t =4.989,P＜ 0.05),and similar serum levels of TRF ((2.48 ± 0.49) vs.(2.48 ± 0.25) g/L,P＞ 0.05).The serum level of PA showed a significant negative correlation with that of TNF-α (r =-0.312,P ＜ 0.05),as well as with disease severity (r =-0.635,P ＜ 0.01),whereas the serum level of TNF-α showed a significant positive correlation with disease severity (r =0.409,P ＜ 0.01),and no statistical correlation was found between the remaining indices (all P ＞ 0.05) in the patients with CU.Conclusions Serum levels of some negative acute phase proteins decrease and negatively correlate with disease severity in patients with CU.Acute phase response may be involved in the occurrence of CU.

Objective To investigate the risk factors for pancreatic fistula after duct-to-mucosa pancreaticojejuuostomy (PD). Methods The clinical data of 101 cases undergoing duct-to-mucosa PD in our hospital from January 1994 to January 2008 were reviewed retrospectively. Results The incidence of pancreatic fistula was 9.9% (10/101). Univariate analysis showed level of preoperative jaundice(χ2=5.814, P= 0.016) , duration of jaundice (χ2= 4.17, P = 0.041 ), texture of the remnant pancreas (χ2=5.286, P = 0.021 ), diameter of pancreatic duct (χ2= 4.165, P = 0.041 ), blood loss during operation (χ2=5.273, P=0.022) were significantly associated with pancreatic fistula after duct-to-mucosa PD. Multivariate analysis regression revealed that texture of the remnant pancreas (OR = 13.355, P = 0.023), level of preoperative jaundice (OR = 12.126, P = 0.006), blood loss during operation (OR = 5.92, P =0.032 ) were independent risk factors. Logistic regression equation was as following: P=1/[<1+e-(-6.378+2.592 texture of the remrant pancress + 2.495 level of preopetative jaundice + 1.778 blood loss during operative)>]. The accuracy of the logistic equation was 92.1%. Conclusion Texture of the remnant pancreas, level of preoperative jaundice, blood loss during operation were the independent risk factors for the occurrence of PD after duct-to-mucosa PD. Improvement of operative technique and reduction of blood loss can decrease the incidence of pancreatic fistula.

Objective To evaluate the relationship of acute-phase response and coagulation/fibrinolysis with chronic urticaria (CU).Methods Fifty-three patients with CU and twenty-five healthy human controls were enrolled in this study.Venous blood samples were collected from all of these subjects.Then,enzyme-linked immunosorbent assay was carried out to measure the serum levels of interleukin-6 (IL-6) and amyloid protein A (AA),and immunoturbidimetry to determine the levels of serum high sensitive C-reactive protein (Hs-CRP) and plasma D-dimer.The patients with CU were classified into three groups according to the severity of clinical symptoms.The levels of serum IL-6 and plasma D-dimer were given in mean ± standard deviation,and those of serum AA and Hs-CRP in mean (25th percentile,75th percentile).Rank sum test and t test were performed to compare these parameters between the patients and controls,and Spearman rank correlation analysis was conducted to study the relationship among these parameters as well as between these parameters and symptom severity in these patients.Results The levels of serum IL-6,serum AA and plasma D-dimer were (10.70 ± 4.94) ng/L,4.92 (8.22,12.51) μg/L,and (222.32 ± 163.69) μg/L respectively in the patients with CU,significantly higher than those in the healthy controls ((7.49 ± 3.41) ng/L,2.11 (1.21,2.83) μg/L,(104.72 ± 43.12) μg/L,respectively,all P＜ 0.05),while no significant differences were observed between the patients and controls in the level of serum HsCRP (0.30 (0.10,1.40) mg/L vs.0.30 (0.10,0.55) mg/L,P ＞ 0.05).In patients with CU,the levels of serum IL-6 were unrelated to those of serum Hs-CRP,serum AA,or plasma D-dimer (all P ＞ 0.05),whereas a positive correlation was observed between the levels of serum Hs-CRP and AA (r =0.67,P ＜ 0.01),serum Hs-CRP and plasma D-dimer (r =0.49,P ＜ 0.01),serum AA and plasma D-dimer (r =0.38,P ＜ 0.01).Further more,the levels of serum Hs-CRP,AA and plasma D-dimer were significantly correlated with symptom severity in patients with CU (r =0.63,0.62,0.47,respectively,all P ＜ 0.01).Conclusions Acute-phase response coexists with the activation of coagulation system in patients with CU,suggesting a potential association between acute-phase response and coagulation system activation.

BACKGROUND:Vertebral column resection is the frequently mentioned spinal orthopaedic concept. Due to the high requirement of the operation skil , difficulty and more complications, the previous studies have reported from different aspects, and many researchers have focused on the analysis of complications, that may be related with the procedure and manner. OBJECTIVE:To analyze the efficacy and complications of posterior vertebral column resection combined with titanium screw rod fixation for the treatment of severe spinal deformity. METHODS:We retrospectively analyzed 48 patients with severe spinal deformity who treated with posterior vertebral column resection and titanium screw rod fixation, with an average removal of 1.6 vertebral. The patients were fol owed-up for 15-64 months. The Cobb angle (coronal plane and sagittal plane) of the patients before treatment, after treatment and in the final fol ow-up was analyzed, and the relative complications of the surgery were analyzed. RESULTS AND CONCLUSION:The patients with spinal deformity were divided into five categories, included kyphoscoliosis (n=11), severe scoliosis (n=20), congenital spinal deformity (n=4), spherical kyphosis (n=3), and angular kyphosis (n=10). The average coronal plane deformity angle of the patients was corrected from 84° preoperation to 35° postoperation, with the total correction rate of 54%. The average sagittal plane deformity angle was corrected from 90° preoperation to 42° postoperation, and the sagittal plane Cobb angle was decreased for 48°. The mean operation time was 545 minutes (204-1 355 minutes), the intraoperative blood loss was 1 610 mL (50-8 244 mL), and the average blood loss was 65%. After treatment, 31 cases had complications, including 13 cases of intraoperative neurological dysfunction (observed through electrophysiological monitoring and wake), permanent neurological dysfunction did not occur after timely treatment. The posterior vertebral column resection and titanium screw rod fixation can obtain better effect in the treatment of severe spinal deformity, but the procedure has high complications and is difficult for operation.

Objective:To investigate the efficacy and safety of three-dimensional navigation template assisted osteotomy for fracture malunion of lateral condyle of humerus in children.Methods:Eighteen children with ma-lunion of fracture of lateral condyle of humerus were treated in Southern Medical University Third Affiliated Hospital from August 2012 to December 2019 and analyzed retrospectively.Among them, 12 cases were treated with routine ope-ration: according to CT reconstruction and empirical osteotomy during the operation, the location of deformity was analyzed.Six cases were treated with navigation template assisted osteotomy: according to the CT data of bilateral elbow joints, a three-dimensional bone model was established, and the coronal and sagittal deformities of the distal humerus were evaluated by comparing the images of the distal humerus of the affected side with the distal humerus of the healthy side, so as to determine the best plane of osteotomy and the target position of reduction.The preoperative simulation was carried out on the computer, and the osteotomy navigation template and reduction navigation template were designed.The navigation template was printed out with a 3D printer.During the operation, the osteotomy was corrected with the assistance of navigation template, and the broken end of osteotomy was fixed with hollow screw and fixed with 80 degree flexion plaster.The X-ray films of the two groups were reexamined regularly after operation.The amount of intraoperative blood loss, operation time, incidence of postoperative complications (necrosis of humeral head and trochlea, delayed ulnar nerve paralysis, and bone nonunion) and the recovery of flexion and the extension function of elbow joint were observed in the 2 groups.Results:The elbow joint activity of all children basically returned to normal, the orthopedic site of osteotomy achieved bony healing, and the orthopedic effects were satisfactory.All the 18 cases were followed up for 6-24 months (mean 15 months). According to the postoperative Dhillon score, the navigation template group was excellent in 1 case and better in 5 cases, while in the routine group, 11 cases were batter and 1 case was fair.There were no significant differences in Dhillon score between the 2 groups after operation ( P>0.05). There were no significant differences in the range of the motion of elbow joint between the 2 groups ( P>0.05). In the comparison of operation time and intraoperative blood loss, the navigation template group [(200.0±24.2) min, (85.0±10.9) mL]was better than the routine group[(232.0±20.1) min, (139.1±18.3) mL](all P<0.001). Conclusions:The application of three-dimensional humerus reconstruction and mirror image contrast to evaluate the distal humerus deformity of the affected side, and the design of osteotomy and reduction navigation template auxiliary operation can restore the normal anatomical structure of elbow joint to the greatest extent.Accurate correction, and the function of elbow joint recover well after operation, which optimizes the operation procedure, improves the safety and effectiveness of the operation.

Objective To establish a high-performance liquid chromatography method for simultaneous determination of mycophenolic acid(MPA) and its 7-O-glucuronide metabolite (MPAG) in human plasma and to study pharmacokinetics of MPA in Chinese renal transplant recipients after administration of mycophenolate mofetil( MMF). Methods Plasma protein was precipitated with metlianol: 5% ZnSO4 ( 70∶30, V∶ V), using naproxen as internal MPA and MPAG after 1.5g/d administration of MMF in 6 early-stage renal transplant recipients were as follows :Tmax was(1.08±0.74)h and(2.58±1.24)h,Cmax was(21.33±8.61)mg/L and(106.98±31.91)mg/L,AUCO-t was (58.73 ±16.26)mg ? L-1 ? h-1 and(833.32±215.03)mg ? L-1 ? h-1,respectively.Conclusion This method was accurate, sensitive and specific and it was successfully applied in therapeutic drug monitoring (TDM) of mycophenolate mofetil in early-stage renal transplant recipients.

Objective To study the risk factors for intra-abdominal infection after pancreaticoduodenecto-my. Methods Clinical data of 101 cases undergoing pancreaticoduodenectomy in our hospital from January 1994 to January 2008 were reviewed retrospectively. The risk factors were analyzed. Results The incidence of intra-abdomi-hal infection was 12.9% (13/101). Univariate analysis showed postoperative pancreatic,biliary and intestinal fistu-la,pulmonary infection,preoperative acute cholangitis and texture of the remnant pancreas were the risk factors for intra-abdominal infection(P<0.05). Multivariate Logistic regression revealed that postoperative pancreatic, biliary and intestinal fistula, pulmonary infection, preoperative acute cholangitis were independent risk factors (OR = 11.914,9.891 and 7.197 ) of intra-abdominal infection after pancreaticoduodenectomy. Conclusion Preventing and curing pancreatic ,biliary and intestinal fistula, pulmonary infection, preoperative acute cholangitis can decrease the incidence of intra-abdominal infection.

Objective To investigate the clinicopathologic features of gastrointestinal neuroendocrine carcinomas. MethodsThe diagnosis and treatment results of 45 cases were studied, and clinicopathologic features and immunohistochemical expressions of NSE, Syn and CgA were detected.ResultsMicroscopically carcinomas were divided into three types: type Ⅰ(25 cases), type Ⅱ(10 cases) and type Ⅲ(10 cases). The histologic categories were correlated with lymph node metastasis significantly( P0.05). The 5-year survival rate for type Ⅰ, type Ⅱ and type Ⅲ was 70%, 65% and 52%, respectively.ConclusionsThe combination of NSE, Syn and CgA immunohistochemical stainnig is necessary for the diagnosis of gastrointestinal neuroendocrine carcinomas. The histologic classification is coincident with the requirement of clinical treatment and prognosis.