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<p><b>OBJECTIVE</b>To analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene.</p><p><b>METHODS</b>Clinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. Swiss-Port was used to predict the tertiary structure of wild type and mutant proteins. The mRNA and protein expression were analyzed by real-time PCR and Western blotting.</p><p><b>RESULTS</b>A homozygous mutation c.901G>A (p.G301S) in exon 7 of CTSC gene was identified in the patient. Both parents of the patient had carried a heterozygous c.901G>A mutation. The mutation was located in the conserved region of CTSC enzyme and was predicted to be damaging by changing the structure of the protein, which could affect the activity of Cathepsin C. However, no significant difference was found in the expression of p.G301S variant at the mRNA and protein levels compared with that of the wild type CTSC gene.</p><p><b>CONCLUSION</b>The c.901G>A mutation of the CTSC gene was first reported in China, which has expanded its mutation spectrum.</p>
Subject(s)
Adult , Child, Preschool , Female , Humans , Male , Asian People , Genetics , Base Sequence , Cathepsin C , Genetics , China , Exons , Molecular Sequence Data , Mutation , Papillon-Lefevre Disease , Genetics , PedigreeABSTRACT
BACKGROUND:Cholesterol is closely linked to the occurrence and progression of atherosclerosis. Current approaches to study celular cholesterol dynamics have their own limitations. OBJECTIVE: To measure the cholesterol efflux rate of RAW 264.7 mouse macrophages by BODIPY-Cholesterol labeling and to explore the effects of extracelular cholesterol and lipopolysaccharide on the cholesterol efflux rate. METHODS:RAW 264.7 cels were cultured in vitro with DMEM containing 10% fetal bovine serum, and labeled with BODIPY-Cholesterol for 1, 2, 4, 8 hours. Then, the cels were rinsed with serum-free DMEM and inoculated for 6, 12, 24, 48, 96 hours to optimize the labeling time and incubation time. We measured and compared the cholesterol efflux rates after cultured cels were treated with cholesterol, lipopolysaccharide, human sera with high cholesterol or human sera with normal cholesterol. RESULTS AND CONCLUSION: The best labeling time for BODIPY-Cholesterol was 2-8 hours. Cholesterol efflux rates were gradualy decreased after the cels that were labeled for 2 hours were incubated with increasing concentrations of cholesterol (0.1, 0.5, 2.5 mmol/L,P< 0.01). Treating cels with lipopolysaccharide also decreased the cholesterol efflux rate (P < 0.05). Furthermore, the cholesterol efflux rate was decreased after cels were treated with human sera with high cholesterol (P< 0.05). These findings indicate that BODIPY-Cholesterol can be used to measure celular cholesterol efflux rate and to study the effects of extracelular cholesterol and lipopolysaccharide on the cholesterol efflux rate.
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Objective:To evaluate the effects of periodontal flap surgery with the aid of microscope in the treatment of patients with chronic periodontitis(CP).Methods:30 patients with CP included in the study were randomly divided into 2 groups.Patients in the experiment group received periodontal flap surgery with the aid of microscope,while those in the control group received the routine flap surgery.The VAS pain scores were compared 1 ,3 and 7 days after surgery.The periodontal parameters were compared 3 and 6 months after surgery between 2 groups.Results:The VAS pain score in the experiment group was significantly lower than that in the control group 1 and 3 days (P =0.01 7 and 0.004)after surgery;the periodontal probing depth in the experiment group was significantly lower than that in the control group 3 and 6 months (P =0.01 0 and 0.047)after surgery.Conclusion:The periodontal probing depth,gin-gival recession and clinical attachment level can be improved and the pain can be reduced in the treatment of CP patients with the aid of microscope in the periodontal flap surgery.
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PurposeTo evaluate the effect of tube current on the pseudo-enhancement of renal cyst by simulating the phantom model of simple renal cyst.Materials and Methods 10% glucose and iodine solution with a certain concentration was used to simulate the renal parenchymal background concentration in plain scan, moderate enhancement and maximum enhancement respectively. The diameters of the cysts were 6 mm, 10 mm and 15 mm, respectively, and the cysts were divided into three groups according to different tube current: 119 mAs (group A), 178 mAs (group B) and 297 mAs (group C) while the tube voltage were all 120 kV. Whether pseudo-enhancement exists in cyst under different conditions was determined using an increase of CT value of 10 HU as the critical value. Results In group A, there was pseudo enhancement at the 240 HU background, and it was most significant with the diameter of 6 mm, which was 21 HU. In group B, pseudo-enhancement occurred in cysts with diameter of both 10 mm and 6 mm under the background of 180 HU and 240 HU, moreover, the biggest difference was 20.4 HU and it occurred in cyst with diameter of 6 mm under the background of 240 HU. In group C, pseudo-enhancement only occurred in cyst with diameter of 6 mm under the condition of 125 HU and 240 HU background concentration. Background concentration (F=17.587, P<0.01) and cyst diameter (F=4.214,P<0.05) had greater impact on cyst pseudo-enhancement, the higher the background concentration and smaller the diameter, more significantly the pseudo-enhancement would occur. With the increase of the tube current, the CT volume dose index increased, and the pseudo enhancement value was smaller, but there was no obvious regularity of pseudo-enhancement occurrence rate in cysts with different background concentration and diameter in each group.Conclusion The increase of tube current cannot completely eliminate cyst pseudo-enhancement. High background concentration and small diameter cyst are important factors in pseudo-enhancement. However, increasing the tube current can reduce the probability of occurrence of pseudo-enhancement to some extent. For those with heavier body weight, it might be necessary to increase the tube current to improve image quality and reduce the occurrence of renal cyst pseudo-enhancement.
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BACKGROUND:B-lymphocytes are an important participant in the immunity system. Currently, magnetic beads and complement methods are mainly used to isolate and purify B-lymphocytes. However, these methods are costly or cause large cel damage and low purity, which need further improvement. OBJECTIVE: To explore the isolation and culture methods of B-lymphocytes from mouse spleen and to study suitable conditions for B-lymphocyte isolation and culture in vitro by using interleukin-4, lipopolysaccharide, CD3 monoclonal antibody or their combination. METHODS:B-lymphocytes from mouse spleen were isolated and randomly divided into seven groups, respectively treated with interleukin-4, CD3 monoclonal antibody, lipopolysaccharide, interleukin-4+CD3, interleukin-4+lipopolysaccharide, CD3+lipopolysaccharide, and no stimulation (control group). Flow cytometry was used to detect the changes in the number and proportion of T-lymphocytes, B lymphocytes, and their subpopulations under different culture conditions. RESULTS AND CONCLUSION:The number of lymphocytes peaked at 3-5 days after addition of interleukin-4. In the lipopolysaccharide group, the number of lymphocytes began to increase at 3 days, and then peaked at 5 days. T-lymphocytes disappeared after addition of CD3 monoclonal antibody, so relatively pure B-lymphocytes could be obtained after 2 days and the number of B-lymphocytes reached the peak at 3 days. The number of mature B-lymphocytes (B220+IgD+) increased significantly after addition of CD3 antibody. In al the conditions we tested, transitional B cel subset (B220+CD93+) disappeared completely after 24 hours of culture. Experimental results indicate that after addition of CD3 monoclonal antibody and interleukin-4, T-lymphocytes can be removed in mouse spleen cels cultured, but mature B-lymphocytes remain to survive and proliferate.
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Purpose To evaluate the feasibility of using dual-energy CT scanner to differentiate two contrast media bismuth and gadolinium. Materials and Methods Two phantoms containing contrast media of different ratio were scanned on dual-energy CT. Group 1 was mixture of iodine and gadolinium solution with volume ratio of 0∶1, 1∶6, 1∶1, 6∶1 and 1∶0. Group 2 was mixture of iodine and bismuth solution with mass ratio of 0∶1, 1∶6, 1∶1, 6∶1, 1∶0. Monoenergetic image reconstruction was performed at 80 keV. Liver VNC software was used for virtual scanning and iodine concentration analysis. Results Under 80 keV reconstruction, the measured CT attenuation of Group 1 was 379-383 HU, and 170-173 HU in group 2. The iodine concentration of two groups was not signiifcantly different between the calculated and actual iodine concentration (P>0.05). The dual-energy CT can distinguish two contrast media. Iodine and gadolinium contrast media were not statistically different, while iodine and bismuth contrast media agent could be easily differentiated. Conclusion Dual-energy CT can distinguish two contrast media with different attenuation.
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Objective To measure the setup errors and organ movements of patients with esophagus carcinoma during radiotherapy and find a reasonable margin from the clinic target volume (CTV) to the planning target volume (PTV). Methods (1) Set-up veri cation: Forty-two cases of untreated esophageal cancer were enrolled into this study. The physicist firstly made the planning according to the doctor requests and ensured the best distribution at the target. Thereafter, the 0° and 90° digitally reconstructed radiograph (DRR) was transmitted to the iView GT workshop. Meanwhile, two copies of cross-cut electronic portal image (EPI) were required before radiotherapy. Two doctors confirmed the variance of the osteal mark from the EPI and DRR,and output a 3D direction (left to right, superior to inferior, anterior to posterior) of the setup errors through the iView GT software. (2)Breathing motion:Ten cases of untreated esophageal cancer were enrolled into this study.Three distinct breathing levels were deflned: FB (free breathing), EBH (expiration with breath-held) and IBH (inspiration with breath-held). We gave the treatment planning in FB, then by moving the isocenter to EBH and IBH, we recalculated the dose distribution without changing the field angle, shape and weighing (Mus). Displacements were analyzed at four points (anterior, posterior, right lateral and left lateral) and five levels of target (upper, quarter, isocenter, three-quarter and lower). Results (1) The systematic setup errors were -0.23 cm, -0.02 cm and -0.06 cm, and the random errors were 0.44 cm, 0.45 cm and 0.44 cm at the direction of left to right(LR), superior to inferior (SI), anterior to posterior(AP), respectively. (2) The organ movements were 0.3 cm, 0.6cm and 0.3cm at the LR, SI, AP, respectively. Conclusions As an alternative, the root-sum-of-squares of set-up error and organ motion are suggested by σtot=√ (σITV2+σSM2). The CTV to PTV margins are 0.8cm left to right, 0.78cm superior to inferior, 0.5cm anterior to posterior.
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<p><b>OBJECTIVE</b>To investigate the apatite forming ability of pure titanium implant after micro-arc oxidation treatment in simulated body fluid (SBF) and obtain implants with calcium phosphate (Ca-P) layers.</p><p><b>METHODS</b>The implants were immersed in (SBF) after micro-arc oxidation treatment for different time lengths, and their apatite forming ability and the morphology and constituents of the Ca-P layers formed on the sample surface were analyzed using X-ray diffraction, scanning electron microscopy, X-ray photoelectron spectroscopy, and energy dispersive electron probe.</p><p><b>RESULTS</b>After immersion in SBF, large quantities of Ca-P layers were induced on the surface of the samples. The Ca-P layers were composed of octacalcium phosphate and carbonated hydroxyapatite, and the crystals showed a plate-like morphology with an oriented growth.</p><p><b>CONCLUSION</b>The implants with micro-arc oxidation treatment show good apatite forming ability on the surface with rich calcium and phosphorus elements. The formed layers are composed of bone-like apatite including octacalcium phosphate and carbonated hydroxyapatite.</p>
Subject(s)
Apatites , Chemistry , Biomimetic Materials , Chemistry , Body Fluids , Chemistry , Calcium Phosphates , Chemistry , Coated Materials, Biocompatible , Chemistry , Durapatite , Chemistry , Oxidation-Reduction , Prostheses and Implants , Random Allocation , Surface Properties , Titanium , ChemistryABSTRACT
Objective To evaluate the efficacy of CT in diagnosis of pulmonary blastoma (PB).Methods 10 patients with surgically and pathologically proved PB were collected in this study,and CT findings of the tumors were retrospectively analyzed. Results Of 10 cases,1 were central form (the tumors localized under pleura) and 9 was periphery form.The tumors were localized at right lobus in 6( including upper lobus,middle and lower lobus in 1,1 and 4,respectively) and left lobus in 4(upper lobus in 3 and lower lobus in one).The lesions were more than 3 cm in diameters in all cases.Necrosis of tumors were seen in 7 cases.The lesions had obvious enhancement after intravenous injection of contrast medium.Enlarged lymph nodes were identified at hilum of the lung and mediastinum in one,bony destruction and distant metastases were seen in one and 2,respectively.Conclusion PB is not of characteristic CT features,CT-guided percutaneous needle biopsy and the immunohistochemical method are helpful to the diagnosis of pulmonary blastoma.