OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Objective To design a custom 3D printed monoblock acetabular implant for reconstructing PaproskyⅢA acetabular bone defects and to analyze the stress distribution,displacement,and clinical reliability of the implant and surrounding bone using finite element analysis(FEA).Methods Bilateral hip computed tomography(CT)data of a patient with PaproskyⅢA acetabular bone defects were collected.Models were developed and analyzed using Mimics Medical 21.0,Geomagic Wrap 2021,Solidworks 2023,and ANSYS Workbench 2022 R1 softwares.The biomechanical performance of the custom 3D printed monoblock acetabular implant was simulated under a single-leg stance condition.Results The peak von Mises stress of the hip components was observed at the femoral stem,measuring 67.318 MPa.For the custom 3D printeded monoblock acetabular implant,the peak stress was located at the anterosuperior contact area between the implant and acetabular bone,measuring 6.935 MPa.The femoral stem exhibited a peak stress of 67.318 MPa at its junction with the femoral head.The liner's peak stress was 1.333 MPa near the fixation of screw 9 at the superior part of the acetabular cup.The screws showed a peak stress of 2.215 MPa at the junction with the implant.For the cortical bone,the peak stress was 9.844 MPa at the distal femur,while the cancellous bone exhibited a peak stress of 0.701 MPa at its distal connection with the femoral stem.The pelvic bone's peak stress was 8.002 MPa at the anterior transition zone between the normal acetabulum and the defect.The peak micromotion of the custom 3D printed monoblock acetabular implant at its posterosuperior area,measuring 0.114 mm.The femoral stem and head exhibited a peak micromotion of 0.132 mm at the contact interface with the acetabular liner.The micromotion range at the implant-acetabular bone interface was 0.098 mm to 0.131 mm.Conclusion Under a simulated single-leg stance condition,the stress distribution in all components and the acetabular bone surface remains below their respective yield strengths.The micromotion threshold between the acetabular cup and acetabular bone is within acceptable limits.Biomechanical analysis indicates that the patient can perform early weight-bearing rehabilitation postoperatively.However,walking or jogging rehabilitation should be approached with caution.

Objective To explore the regulatory mechanism of NFE2L2/KEAP1 in alveolar bone repair induced by periodontitis.Methods A rat periodontitis model was established and divided into four groups:Control group(n=6);Periodontitis model group(n=6);Periodontitis+lentivirus empty vector group(n=6);Periodontitis+NFE2L2 overexpression plasmid group(n=6).Histopathological changes in each group were observed using HE staining.TRAP staining was used to detect osteoclast positivity,while ELISA was employed to measure inflammatory cytokine levels in tissues.Immunofluorescence and qPCR were used to detect NFE2L2 expression,and western blot was used to assess the expression of osteogenic proteins ALPL2,RUNX2,and COL1.Primary periodontal ligament cells(hPDLCs)were cultured,and cells were transfected to overexpress NFE2L2 and KEAP1.The cells were divided into six groups:Normal group;Model group;pcDNA-NC group;pcDNA-NFE2L2 group;pc-NFE2L2+pcDNA-NC group;pc-NFE2L2+pcDNA-KEAP1 group.A cellular model was established,and the morphology of primary hPDLCs was observed under a microscope.Cell proliferation was assessed using CCK-8.Osteogenic mineralization was observed using alizarin red staining,and western blot was used to detect osteogenic proteins and autophagy markers.Cell migration was observed using a scratch assay.Results(1)After model induction,redness,swelling of the gums,extensive inflammatory infiltration,and alveolar bone resorption were observed,confirming successful model establishment.Partial tissue recovery occurred after NFE2L2 overexpression via lentivirus.(2)After model induction,osteoclast positivity increased,confirming successful model establishment.Overexpression of NFE2L2 reduced osteoclast positivity(P<0.001).(3)After model induction,levels of IL-1β,IL-10,and TNF-α were significantly higher than in the normal group(P<0.05),confirming successful model establishment.Transfection with NFE2L2 lentivirus reduced inflammatory cytokine levels(P<0.0001).After model induction,osteogenic protein expression decreased compared to the normal group,but overexpression of NFE2L2 increased osteogenic protein expression(P<0.05).(5)LPS treatment significantly reduced cell viability,while NFE2L2 overexpression enhanced it(P<0.0001).(6)LPS treatment reduced calcified nodules,while NFE2L2 overexpression increased them.Addition of pcDNA-KEAP1 reduced mineralized nodules.(7)LPS treatment decreased osteogenic protein expression,while NFE2L2 overexpression increased it.However,addition of pcDNA-KEAP1 reduced osteogenic protein expression(P<0.05).(8)LPS treatment reduced cell migration,whereas NFE2L2 overexpression enhanced it(P<0.0001).(9)Expression of autophagy markers decreased after LPS treatment,but increased after transfection with NFE2L2 plasmid.However,addition of pcDNA-KEAP1 reduced the expression of autophagy markers(P<0.05).Conclusion This study identified the regulatory role of NFE2L2/KEAP1 in periodontitis,providing a scientific basis for the treatment of periodontitis.

Objective:To make an individual phantom that was printed by using three dimension(3D)technique,which could reflect the real situation of patient,and to analyze the computed tomography(CT)value and dose distribution of radiotherapy on each organ of the inside of the 3D-printed individual phantom.Methods:According to the localization of CT image of the patient,the empty shell of 3D structure of each organ were reconstructed and printed by using 3D technique.The CT value was used as basis to select the equivalent material of each organ to perform fill,which could obtain the individual phantom of chest that could appear the structural characteristics of patient.The treatment plan of patients were included in treatment plan group,and the plans which were transplanted to 3D-printed individual phantom from treatment plan of patients were included in phantom plan group.The dosimetric parameters of the plans of two groups were compared.Results:The average CT values of left and right lung,soft tissue,cancellous bone,compact bone and heart of the phantom plan group were respectively-709,-737,14,144,760 and 28 HU.The errors of the all CT values between phantom images and located images of patients were less than 16.7%.The exposure doses of normal tissues of radiotherapy plans on the images of two groups could meet the clinical requirements.The minimum dose(Dmin),mean dose(Dmean),the corresponding doses of 98%,50% and 2% target volumes(D98%,D50% and D2%),conformity index(CI),homogeneity index(HI),monitor unit(MU)of dosimetric parameters of the target region could meet the clinical requirements without statistically significant differences.There was significant differences in the maximum dose(Dmax)of the target region(t=2.678,P＜0.05).Among of these Dmax values,the Dmax value of phantom plan group was larger,which was(56.97±0.32)Gy.Conclusion:The CT value,tissue structure and spatial distribution of the phantom,which is finally designed,can emulate the chest of human body in radiotherapy.It has verified the feasibility that 3D-printed phantom is applied in measuring dose in the quality assurance of radiotherapy.

BACKGROUND:Bone mineral density is the clinical gold standard for determining bone strength,but bone mineral density is less sensitive to changes in bone mass,with large changes in bone mineral density only occurring when bone mass is significantly reduced,so bone mineral density has limited ability to predict changes in bone strength and fracture risk. OBJECTIVE:A model of the normal and osteoporotic hip joint was developed to analyze the stresses and deformation in the hip of normal and osteoporotic patients under single-leg standing conditions. METHODS:A healthy adult female volunteer at the age of 36 years was selected as the study subject.The CT data of the hip joint of this volunteer were obtained and saved in DICOM format.The hip joint model was reconstructed in three dimensions,and the material properties were assigned by the gray value assignment method to obtain the normal and osteoporotic hip joint models according to the empirical formula.The same boundary conditions and loads were set to simulate the stresses and deformation in the normal and osteoporotic hip joints in the single-leg standing position. RESULTS AND CONCLUSION:(1)In the finite element model of the normal and osteoporotic hip,the stress distribution was more concentrated in the medial region of the femoral neck.(2)In the hip bone,the stress distribution was mainly concentrated in the upper part of the acetabulum.(3)The stress peaks in the medial femoral neck and upper acetabulum were larger in the normal hip model than in the osteoporotic hip model,probably due to the reduced bone strength of the osteoporotic bone.(4)The peak Von Mises of both normal and osteoporotic hip models were concentrated on the medial femoral neck,and the peak Von Mises of the hip bone was smaller,indicating that the overall effect of osteoporosis on hip bone stresses was relatively small.(5)In terms of deformation in the single-leg standing position,the maximum deformation in the normal hip model was located at the acetabulum and femoral head,and the maximum deformation was located at the upper part of the greater trochanter of the femur.(6)It is suggested that the finite element analysis method to model the values of parameters related to bone tissue in osteoporosis may improve clinical prediction of bone strength changes and fracture risk.It is explained from the biomechanical view that the intertrochanteric femur and femoral neck are good sites for osteoporotic hip fractures.

Objective:To explore the feasibility of 60 kV low-dose scanning technique on chest combined with ClearInfinity deep learning reconstruction algorithm in the diagnosis of pediatric mycoplasma pneumonia.Methods:A total of 132 pediatric patients,who admitted to Taihe Hospital Affiliated to Hubei Medical College and were diagnosed as mycoplasma pneumonia,were selected,and all of them underwent computed tomography(CT)scans on chest.They were randomly divided into routine dose group(66 cases),low dose ClearView and ClearInfinity group(66 cases).In the routine dose group,the tube voltage of CT scan on chest was 100 kV,and 50%ClearView iterative algorithm was adopted in this group.The tube voltage of CT scan on chest was 60kV in low dose ClearView and ClearInfinity group,and 50%ClearView iterative algorithm and 50%ClearInfinity deep learning reconstruction algorithm were used respectively to conduct reconstruction.The difference of radiation dose among the three groups was compared.The CT values and standard deviation(SD)values,signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)of the region of interest(ROI)of the images of 3 groups were measured and calculated.The images were subjectively evaluated by two diagnostic attending physicians with 10 years of work experience,and the Kappa test was adopted to analyze the consistency of the score results.Results:Compared with the routine dose group,the volume CT dose index(CTDIvol)values,dose-length product(DLP)values and effective radiation dose(ED)values of the low dose ClearView group and ClearInfinity group reduced respectively by 87.58%,87.24%and 88.00%,and the differences were statistically significant(t=4 584.07,63.73,61.27,P<0.01).The noise values of left and right lung of the routine dose group were significantly lower than those of the low dose ClearView group,while were significantly higher than those of ClearInfinity group,and the differences were significant(Z=-9.912,-7.013,P<0.01),and the difference of them between low dose ClearView group and ClearInfinity group was significant(Z=-9.912,P<0.01).The SNR and CNR of left and right lung of low dose ClearView group were significantly lower than those of the routine dose group,with statistically significant(t=-34.810,5.522,P<0.01),while these of the low dose ClearInfinity group were significant higher than them of the routine dose group(t=3.544,-8.674,P<0.05),respectively.The two attending physicians had favorable consistency in the subjective evaluation for images(Kappa>0.75,P<0.01).The subjective score of the routine dose group was not significantly different with that of the low dose ClearInfinity group(P>0.05),but was significantly better than that of the low dose ClearView group(Z=-6.425,P<0.01).Conclusion:For pediatric patients with mycoplasma pneumonia,the 60 kV low dose CT on chest combined with ClearInfinity deep learning reconstruction algorithm can ensure image quality on the premise of reducing radiation,which can ensure the diagnostic effect.

Objective To assess the viability and efficacy of employing automated segmentation for whole breast radiotherapy with simultaneous integrated boost to the medial tumor beds,a comparative analysis was conducted on the disparities in geometry,dosimetry,and working time between the auto-segmentation(AS)and manual segmentation(MS)groups.Methods A total of 30 patients with early breast cancer,who had undergone conserving surgery and received hypofractionated radiotherapy with a boost to the medial tumor bed,were enrolled from the First People's Hospital of Zunyi.AccuContour software was used in the AS group to obtain the whole breast planning target volume and cardiopulmonary structure.Geometric differences between AS and MS groups were assessed using Dice similarity coefficient(DSC)and 95%Hausdorff distance(95HD).Subsequently,a comparison was made between the two groups regarding target and cardiopulmonary dosimetry for PlanA and PlanM.Additionally,the time spent by each group was also compared.Results The DSC of PGTV,PTV,lung,and heart were 0.94(0.91,0.96),0.88(0.86,0.91),0.98(0.97,0.98)and 0.94(0.93,0.95),respectively.And the 95 HD(cm)were 0.25(0.20,0.33),0.99(0.56,1.20),0.29(0.25,0.35)and 0.50(0.50,0.59)respectively.The dosimetric results showed that the V95,D95,and Dmean of PGTV and PTV in the AS group were significantly lower than those in the MS group(P<0.05);while the V20 and MLD of the left lung were significantly higher(P<0.05).No significant difference was observed in cardiac dose between the two groups.The mean absolute differences of PGTV and cardiopulmonary dose parameters between the two groups were less than 1 Gy/1%,respec-tively.In terms of work efficiency,the AS approach substantially reduced contouring and planning time with over 70%of cases approved within two days.Conclusions The differences in geometric and dosimetric parameters between the auto-segmentation and manual segmentation groups were found to be negligible for whole breast radiotherapy with medial tumor bed boost patients.It is recommended that the PTV be manually modified prior to plan optimiza-tion,leading to a significant improvement in work efficiency.

Transcatheter tricuspid valve intervention is the new frontier of interventional cardiology. The LuX-Valve is a radial force-independent orthotopic tricuspid valve replacement device developed in China. The LuX-Valve Plus transcatheter tricuspid valve replacement (TTVR) system is changed from the trans-atrial to the transjugular approach, which further reduces trauma and pulmonary complications compared with the first generation LuX-Valve. The first-in-human study has been completed at Zhongshan Hospital, Fudan University and an exploratory multicentre clinical study is underway. Echocardiography plays an important role in pre-TTVR screening, intraoperative guidance and postoperative evaluation and follow-up, especially two-dimensional transoesophageal echocardiography (2D-TEE) and three-dimensional transoesophageal echocardiography (3D-TEE). However, there is a lack of appropriate intraoperative guidance and assessment protocols. In this study, we briefly described the protocols and imaging considerations for intraoperative 2D-TEE and 3D-TEE to ensure the successful implantation of TTVR.

Objective:To investigate the effect of 3D-printed customized flanged cup in hip revision with severe acetabular bone defects.Methods:Since February 2017, 10 cases of 3D-printed customized flanged cups were used in hip revision with severe acetabular bone defects, including 2 cases of Paprosky type IIIA and 8 cases of Paprosky type IIIB. There were 5 males and 5 females, mean age 73.6±8.1 yrs (range, 62-87 yrs), 5 left and 5 right cases. The preoperative thin-layer CT scan was preformed to reverse reconstruct digital pelvis. Five cases of one-piece flanged cups and 5 cases of decomposed flanged cups, including 3 cases of composite one-piece cups were designed by computer. The surgery was performed strictly according to the plan.Postoperative follow-up was performed to evaluate the Harris score. Operation time,intraoperative bleeding and other complications such as vascular and nerve injury, postoperative infection, and dislocation were counted. Pelvic X-ray was used to assess the height and horizontal position of the center of rotation and the stability of the prosthesis.Results:The surgical procedure was successful, with an average operative time of 147.9±48.3 min (range, 96-212 min) and an average intraoperative bleeding of 730.4±262.6 ml (range, 500-1 300 ml). The mean time of final follow-up was 40.8±18.7 months (range, 16-70 months) after surgery. At the last follow-up, the average Harris score was 83.80±6.73, with 4 cases excellent, 5 cases good, and 1 case fair. The excellent and good rate was 90%. The last Harris score was significantly higher than that before operation 28.60±8.40 ( t=16.84, P<0.001). The height of affected hip joint rotation center decreased from 46.24±7.74 mm before operation to 15.54±2.54 mm after operation with significant difference ( t=14.61, P<0.001). It was slightly higher than the opposite side (13.81±1.48 mm), which had no significant difference ( t=1.83, P=0.100). The horizontal distance of affected hip joint rotation center increased from 33.79±5.27 mm before operation to 40.53±4.50 mm after operation with significant difference ( t=3.62, P=0.006). It had no significant difference ( t=1.28, P=0.232) compared with the opposite side (38.54±3.46 mm). All incisions were healed in one stage without infection, vascular or nerve injury. During the following-up, all prostheses were in satisfied position without loosening, dislocation or screw breaks. Conclusion:Digitally assisted 3D-printed flanged cups can be used in hip revision with severe acetabular bone defect. It can not only improve hip joint function, but also restore the acetabular rotation center and the prosthesis stability, which can achieve good early and mid-term effect.

Objective:To analyze the efficacy of the reconstruction of the proximal humerus by reverse shoulder arthroplasty with three-dimensional (3D) printing technology after tumor rescetion.Methods:A retrospective analysis was conducted on the data of eight patients undergoing semi-constrained reverse shoulder arthroplasty with 3D printing technology after the resection of bone tumors in proximal humeri at the Affiliated Wuxi People's Hospital of Nanjing Medical University from December 2017 to January 2021. There were four males and four females with an average age of 55.1 (range, 31-73) years, all of whom had unilateral onset, 2 on the left and 6 on the right. There was one case of leiomyosarcoma (Enneking IIB), two cases of chondrosarcomas (one Enneking IA and one Enneking IB), four cases of Campanacci grade 3 giant cell tumor of bone, and one case of bone metastasis of lung adenocarcinoma. Individualized prosthesis and implantation protocol were completed preoperatively in all patients. The glenoid baseplate was manufactured using 3D printing technology. During the surgery, Malawer type I tumor resection and semi-constrained reverse shoulder arthroplasty were performed, with 6 cases simultaneously using allograft-prosthetic composite reconstruction. The follow-up was scheduled, and the patient received X-ray examination of the shoulder. The range of motion of the shoulder was measured, the Constant-Murley score and musculoskeletal tumor society (MSTS) score were recorded.Results:All 8 patients successfully completed the surgery, with a surgical time of 173.8±46.7 min (range, 130-260 min), intraoperative blood loss of 487.5±334.6 ml (range 200-1,200 ml), and proximal humeral resection of 9.9±4.6 cm (range, 4.5-19.0 cm). All patients were followed up for a period of 45.6±12.5 months (range, 24-60 months). At the last follow-up, the abduction ranges of motion of the affected shoulders increased from 27.5°±14.4° pre-operatively to 106.3°±21.8° post-operatively, with a statistically significant difference ( t=11.37, P<0.001). The forward flexion ranges increased from 28.1°±12.8° pre-operatively to 115.6°±24.0° post-operatively, with a statistically significant difference ( t=11.49, P<0.001). The Constant-Murley score was improved from 40.5±14.3 pre-operatively to 79.3±11.2 post-operatively, with a statistically significant difference ( t=9.58, P<0.001). The MSTS score was 25.6±2.2 (range, 23-28), including 6 excellent cases and 2 good cases. At 2 weeks after surgery, one patient experienced joint dislocation that was successfully reduced manually. Up to the final follow-up, all patients had survived without local tumor recurrence, metastasis, prosthesis infection and loosening. Conclusion:3D printing technology assisted shoulder arthroplasty is helpful for effective reconstruction and shoulder joint function recovery after resection of proximal humeral tumors, with satisfactory outcomes in the early and middle stages.