This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective:To evaluate the clinical efficacy of proximal femoral reconstruction osteotomy (PFRO) in hip revision arthroplasty.Methods:A retrospective analysis was conducted of the 92 patients (93 hips) who had undergone PFRO in hip revision arthroplasty at Department of Orthopedics, The First Affiliated Hospital, University of Science and Technology of China from January 2019 to December 2023. The cohort included 50 males (51 hips) and 42 females (42 hips), with an age of (64.5±11.7) years and a body mass index of (23.7±2.9) kg/m 2. Surgical procedures were performed under general anesthesia via a posterolateral approach. Biologic prostheses were used in femoral reconstruction, and PFRO fragments repositioned and fixed using cerclage wires. The data collected were operative time, intraoperative blood loss, length of osteotomy fragments, healing at the osteotomy site, intraoperative and follow-up complications, as well as Harris hip score (HHS) and leg length discrepancy (LLD) at the last follow-up. Results:For this cohort, operative time was (174.9±45.6) minutes, intraoperative blood loss (594.6±206.6) mL, and length of osteotomy fragments (12.3±2.3) mm. The 92 patients were followed up for (35.8±12.3) months. For them, HHS improved from preoperative (38.3±8.5) points to (80.5±12.8) points at the last follow-up, and LLD decreased from preoperative (21.2±13.0) mm to 2.0(0.0, 5.0) mm at the last follow-up, showing significant differences ( P<0.05). The osteotomy sites healed in 89 cases (90 hips), with a displacement of the greater trochanter <5 mm; 3 cases (3 hips) experienced nonunion with wire loosening and a displacement of the greater trochanter >10 mm. The osteotomy fragment of the greater trochanter got fractured in 2 patients (2 hips) and a fracture of the medial cortex of the proximal femur occurred in 11 patients (11 hips), but follow-ups observed healing of all the fractures. One patient (1 hip) developed postoperative posterior dislocation of the hip which was treated conservatively. One patient (1 hip) developed postoperative periprosthetic infection which did not recur after twice of debridement followed by prosthetic revision of the proximal femoral tumor. Conclusion:In hip revision arthroplasty, as PFRO demonstrates a low incidence of fragment fractures of the greater trochanter and a high rate of healing at the osteotomy site, its short-term clinical outcomes are satisfactory.

Objective To analyze changes in sleep,mood state,and brain function in healthy populations living in near-sea-level environments before and after exposure to high-altitude environment,and to explore the correlations between regional brain functional changes and variations in sleep and mood states.Methods A total of 45 healthy volunteers were enrolled.The participants came from regions of near-sea-level altitudes and were exposed to the high-altitude environment for a short period of time.The Pittsburgh Sleep Quality Index(PSQI),Zung Self-Rating Depression Scale(SDS),Patient Health Questionnaire-9(PHQ-9),Zung Self-Rating Anxiety Scale(SAS),and Generalized Anxiety Disorder-7(GAD-7)were administered to assess sleep quality as well as depressive and anxiety symptoms at 4 time points—prior to high-altitude exposure,immediately after exposure,one month after returning to low-altitude regions,and three months after returning to low-altitude regions.Resting-state functional magnetic resonance imaging(rs-fMRI)data were collected before and after high-altitude exposure,and regional brain functional parameters,including the amplitude of low-frequency fluctuations(ALFF)and functional connectivity strength,were analyzed.Statistical analyses were performed,including a linear mixed-effects model to evaluate longitudinal changes in scale scores,paired-sample t-tests to compare brain function differences before and after exposure,and Pearson correlation analyses to examine the relationship between brain functional changes and alterations in sleep and mood states.Results Compared with the pre-exposure findings,the participants exhibited significantly increased PSQI scores(8.89±4.41 vs.5.08±2.69,P<0.05)and PHQ-9 scores(3.60±4.19 vs.1.54±2.30,P<0.05)immediately after high-altitude exposure.One month after returning to the low-altitude environment,both sleep and depression scores decreased relative to the findings immediately after exposure(PSQI:3.88±2.13 vs.8.89±4.41,P<0.05;PHQ-9:1.50±2.25 vs.3.60±4.19,P<0.05)and showed no statistically significant difference compared with the pre-exposure findings(P>0.05).Three months after returning to near-sea-level environment,sleep,depression,and anxiety scores were all reduced compared with the findings immediately after exposure(PSQI:3.76±2.31 vs.8.89±4.41,P<0.05;PHQ-9:1.24±2.13 vs.3.60±4.19,P<0.05;SAS:23.84±5.93 vs.27.93±7.05,P<0.05),also showing no significant difference compared with the pre-exposure levels(P>0.05).Brain function analysis revealed that,relative to the pre-exposure levels,ALFF in the bilateral superior temporal gyrus,insula,and dorsolateral prefrontal cortex(DLPFC)increased after high-altitude exposure(P<0.05),and that functional connectivity strength in the DLPFC was also elevated(P<0.05).Furthermore,changes in DLPFC functional connectivity strength were positively correlated with changes in sleep and mood scores(P<0.05).Conclusion High-altitude exposure has a significant impact on the sleep,mood states,and brain function of populations from near-sea-level regions,and DLPFC,in particular,is closely associated with changes in sleep and mood states.The findings of this study provide a theoretical basis for health management and intervention strategies in high-altitude environments.

Objective : To explore the role and mechanism of 25-hydroxycholesterol (25-HC) in inflammatory bow- el disease (IBD) in mice． Methods : All mice were divided into three groups : the control group was fed normally ; the DSS model group was fed with 2. 5% dextran sulfate sodium (DSS) solution ; the DSS + 25-HC experimental group was fed with 2. 5% DSS solution and he mice in the experimental group were intraperitoneally injected with 25-HC．The symptom changes of the mice were evaluated by assessing the disease activity index(DAI) ，and the tis- sue changes were judged by histological scoring．The expression of interleukin-17 and its signaling pathways in the mice were detected by Western blot，qRT-PCR, immunohistochemistry /fluorescence，and flow cytometry．Combined with the detection of tight junction proteins in the intestinal epithelium of the mice，the mechanism by which 25-HC affects IBD in mice was explored． Results : In comparison to the DSS control group，The DSS + 25-HC experimen- tal group mice exhibited a reduction in body weight ( F = 30. 1，P ＜0. 000 1) ，a shortened colon ( F = 63. 8，P < 0. 05) ，and elevated DAI(F = 774. 5，P＜0. 000 1) and histopathological scores(F = 141. 5，P＜0. 05) ．Addition- ally，the expression of tight junction-associated proteins(ZO-2，Occludin，JAM and Claudin-4) was found to be sig- nificantly reduced．The level of IL-17 significantly decreased，and its expression level was positively correlated with tight junction proteins． Conclusion 25-HC inhibited IL-17 production by colonic γδ T cells through the RORγt pathway，aggravated mucosal injury，and promoted the development of DSS-induced acute colitis in mice．

Objective:To evaluate the clinical efficacy of proximal femoral reconstruction osteotomy (PFRO) in hip revision arthroplasty.Methods:A retrospective analysis was conducted of the 92 patients (93 hips) who had undergone PFRO in hip revision arthroplasty at Department of Orthopedics, The First Affiliated Hospital, University of Science and Technology of China from January 2019 to December 2023. The cohort included 50 males (51 hips) and 42 females (42 hips), with an age of (64.5±11.7) years and a body mass index of (23.7±2.9) kg/m 2. Surgical procedures were performed under general anesthesia via a posterolateral approach. Biologic prostheses were used in femoral reconstruction, and PFRO fragments repositioned and fixed using cerclage wires. The data collected were operative time, intraoperative blood loss, length of osteotomy fragments, healing at the osteotomy site, intraoperative and follow-up complications, as well as Harris hip score (HHS) and leg length discrepancy (LLD) at the last follow-up. Results:For this cohort, operative time was (174.9±45.6) minutes, intraoperative blood loss (594.6±206.6) mL, and length of osteotomy fragments (12.3±2.3) mm. The 92 patients were followed up for (35.8±12.3) months. For them, HHS improved from preoperative (38.3±8.5) points to (80.5±12.8) points at the last follow-up, and LLD decreased from preoperative (21.2±13.0) mm to 2.0(0.0, 5.0) mm at the last follow-up, showing significant differences ( P<0.05). The osteotomy sites healed in 89 cases (90 hips), with a displacement of the greater trochanter <5 mm; 3 cases (3 hips) experienced nonunion with wire loosening and a displacement of the greater trochanter >10 mm. The osteotomy fragment of the greater trochanter got fractured in 2 patients (2 hips) and a fracture of the medial cortex of the proximal femur occurred in 11 patients (11 hips), but follow-ups observed healing of all the fractures. One patient (1 hip) developed postoperative posterior dislocation of the hip which was treated conservatively. One patient (1 hip) developed postoperative periprosthetic infection which did not recur after twice of debridement followed by prosthetic revision of the proximal femoral tumor. Conclusion:In hip revision arthroplasty, as PFRO demonstrates a low incidence of fragment fractures of the greater trochanter and a high rate of healing at the osteotomy site, its short-term clinical outcomes are satisfactory.

Objective:To compare the clinical efficacy of the anterior approach versus the posterolateral approach for total hip arthroplasty (THA) in treating residual high dislocation secondary to pyogenic hip arthritis, and to investigate the benefits of proximal femoral reconstruction osteotomy.Methods:A retrospective study was conducted on 45 patients who underwent THA combined with proximal femoral reconstruction osteotomy for high dislocation secondary to pyogenic hip arthritis at the First Affiliated Hospital of the University of Science and Technology of China from January 2017 to September 2022. Patients were categorized into two groups based on the surgical approach: 14 in the anterior approach group and 31 in the posterolateral approach group. We analyzed surgical duration, intraoperative blood loss, postoperative visual analogue scale (VAS) scores for lateral knee pain after knee extension, postoperative limb lengthening, Harris hip scores, and complications. Radiographic assessments included anteversion and abduction angles of the acetabular cup, hip abductor muscle lever arm, hip-knee-ankle (HKA) angle of the affected side, osteotomy site bone healing rate, and prosthesis loosening.Results:The average follow-up period was 3.6±1.8 years (range, 1.0-6.7 years). The anterior approach group had a significantly longer surgical duration (141.4±21.0 min) compared to the posterolateral approach group (121.3±23.1 min). Intraoperative blood loss was significantly less in the anterior approach group (425.2±80.2 ml) compared to the posterolateral approach group (535.1±96.3 ml). The difference was statistically significant ( P<0.05). The VAS score for lateral knee pain after knee extension was significantly lower in the anterior approach group (3.2±0.8) than in the posterolateral approach group (5.7±1.1), the difference was statistically significant ( t=7.300, P<0.001). Postoperative limb lengthening was 5.0±1.5 cm in the anterior approach group and 4.5±1.4 cm in the posterolateral approach group, with no significant difference ( t=1.075, P=0.289). At the final follow-up, the Harris hip score was 86.2±5.0 in the anterior approach group and 82.5±6.8 in the posterolateral approach group, with no significant difference ( t=1.839, P=0.073). The acetabular anteversion angle, abduction angle, and HKA angle in the anterior approach group were 12.9°±5.8°, 42.6°±6.2°, and 179.8°±1.4°, respectively, while in the posterolateral approach group they were 14.5°±7.0°, 44.2°±3.1°, and 178.8°±2.1°, respectively. The differences between the groups were not statistically significant ( P>0.05). The hip abductor muscle lever arm was 5.6±0.7 cm on the surgical side compared to 5.9±0.6 cm on the healthy side, with no significant difference ( t=1.916, P=0.059). All patients achieved bone healing at the osteotomy site by the final follow-up. One patient in the anterior approach group experienced femoral prosthesis subsidence but did not require femoral revision. Two patients in the posterolateral approach group experienced hip dislocation, both of which were managed with intravenous anesthesia and closed reduction. Conclusion:The anterior approach for THA combined with proximal femoral reconstruction osteotomy yields better clinical outcomes compared to the posterolateral approach, including reduced intraoperative blood loss, decreased lateral knee pain, and a lower rate of dislocation. Proximal femoral reconstruction osteotomy effectively restores the hip abductor muscle lever arm with a high rate of osteotomy site healing.

Objective:To investigate the phenotypic characteristics of dendritic cell (DC) in the peripheral blood of patients with chronic antibody-mediated rejection (CAMR) after kidney transplantation,revealing the potential role of DCs in the occurrence and development of CAMR.Methods:Case-control study. A total of 25 kidney transplant recipients who underwent kidney transplantation or were under long-term follow-up at West China Hospital of Sichuan University from October 1st, 2020, to July 31st, 2021, were recruited in this case-control study, comprising 15 cases of patients with CAMR and 10 cases of patients with stable renal function. Flow cytometry was used to analyze DC subsets in peripheral blood mononuclear cells (PBMC) of patients. Correlation analysis was conducted to explore the relationship between DC subsets and renal function indicators. Iterative cluster analysis was performed based on the absolute counts of DC, ILT3+ mDC, ILT3+ pDC,ILT4+ mDC and ILT4+ pDC in the CAMR group.Results:Compared with the stable renal function group, the percentages and absolute count of pDC, pDC/mDC ratio, and absolute count of ILT3+ pDC were decreased while percentages of ILT3+ mDC were increased in CAMR group . DC percentage was negatively correlated with Scr (r=-0.467, P=0.019) and CysC (r=-0.502, P=0.011) and positively correlated with eGFR (r=0.436, P=0.029). ILT4+ pDC percentage was positively correlated with CysC (r=0.433, P=0.031), and absolute count of DCs was negatively correlated with CysC (r=-0.425, P=0.034). Iterative cluster analysis defined two patient clusters with significant statistic differences of Scr, eGFR, and CysC detection results in the CAMR group.Conclusion:The distribution of DC subsets and the expression of ILT3 and ILT4 in the blood of post-transplant patients could provide new biomarkers for early identification of CAMR risk and optimization of immunosuppressive therapy strategies. Particularly, changes of pDC and the expression levels of ILT3, ILT4 can serve as valuable indicators for assessing post-transplant immune status and renal function prognosis.

Objective:To evaluate the clinical effect of bispherical augment in acetabular defects reconstruction in hip revision.Methods:This is a retrospective case series study. A retrospective analysis of 119 patients (124 hips) patients who underwent hip revision surgery and reconstructed with bispherical augment for acetabular bone defects from January 2019 to December 2023 was performed. There were 57 males (58 hips) and 62 females (66 hips), aged (65.0±11.8) years (range:40 to 102 years). The body mass index was (23.9±3.5) kg/m 2 (range:16.1 to 32.2 kg/m 2). Acetabular bone defects were typed as follows: 2 hips in Paprosky type ⅡA, 29 hips in type ⅡB, 34 hips in type ⅡC, 31 hips in type ⅢA, and 28 hips in type ⅢB, of which 9 patients (9 hips) were combined with pelvic discontinuity. Differences in Harris hip score (HHS) and lower limb discrepancy (LLD) were compared between preoperatively and final follow-up. The height of the hip center of rotation and the horizontal distance from the center of rotation to the teardrop were measured by radiographs before and after surgery, and prothesis stability and the occurrence of postoperative complications were evaluated. Data were compared using the paired sample t test. Results:All patients successfully completed the operation. The operation time was (167.0±53.4) minutes (range:90 to 380 minutes) and the intraoperative bleeding was (345.3±124.2) ml (range:100 to 1 200 ml). The height of the hip center of rotation decreased from (39.7±13.0) mm preoperatively to (21.8±7.1) mm postoperatively and the horizontal distance from the center of rotation to the teardrop increased from (34.0±10.1) mm preoperatively to (38.5±5.9) mm postoperatively, and the differences were statistically significant ( t=15.859, P<0.01; t=5.266, P<0.01). All the patients were followed up for (26.1±15.4) months (range:6 to 60 months). At the last follow-up, HHS improved from (35.2±10.0) points preoperatively to (85.5±9.5) points, and the difference was statistically significant ( t=50.723, P<0.01). LLD decreased from (2.1±1.1) cm preoperatively to (0.5±0.5) cm, and the difference was statistically significant ( t=13.767, P<0.01). All acetabular components were stable and free of displacement on imaging during follow-up. Three patients suffered dislocation and received closed reduction, all prosthesis were in good position during follow-up. No dislocation, loosening, fracture, recurrence of infection and vascular nerve injury occurred in other patients. Conclusion:Bispherical augment can effectively reconstruct acetabular bone defects, restore the hip center of rotation, and improve hip joint function scores at short and mid-term follow-up.

Objective:To evaluate the clinical effect of bispherical augment in acetabular defects reconstruction in hip revision.Methods:This is a retrospective case series study. A retrospective analysis of 119 patients (124 hips) patients who underwent hip revision surgery and reconstructed with bispherical augment for acetabular bone defects from January 2019 to December 2023 was performed. There were 57 males (58 hips) and 62 females (66 hips), aged (65.0±11.8) years (range:40 to 102 years). The body mass index was (23.9±3.5) kg/m 2 (range:16.1 to 32.2 kg/m 2). Acetabular bone defects were typed as follows: 2 hips in Paprosky type ⅡA, 29 hips in type ⅡB, 34 hips in type ⅡC, 31 hips in type ⅢA, and 28 hips in type ⅢB, of which 9 patients (9 hips) were combined with pelvic discontinuity. Differences in Harris hip score (HHS) and lower limb discrepancy (LLD) were compared between preoperatively and final follow-up. The height of the hip center of rotation and the horizontal distance from the center of rotation to the teardrop were measured by radiographs before and after surgery, and prothesis stability and the occurrence of postoperative complications were evaluated. Data were compared using the paired sample t test. Results:All patients successfully completed the operation. The operation time was (167.0±53.4) minutes (range:90 to 380 minutes) and the intraoperative bleeding was (345.3±124.2) ml (range:100 to 1 200 ml). The height of the hip center of rotation decreased from (39.7±13.0) mm preoperatively to (21.8±7.1) mm postoperatively and the horizontal distance from the center of rotation to the teardrop increased from (34.0±10.1) mm preoperatively to (38.5±5.9) mm postoperatively, and the differences were statistically significant ( t=15.859, P<0.01; t=5.266, P<0.01). All the patients were followed up for (26.1±15.4) months (range:6 to 60 months). At the last follow-up, HHS improved from (35.2±10.0) points preoperatively to (85.5±9.5) points, and the difference was statistically significant ( t=50.723, P<0.01). LLD decreased from (2.1±1.1) cm preoperatively to (0.5±0.5) cm, and the difference was statistically significant ( t=13.767, P<0.01). All acetabular components were stable and free of displacement on imaging during follow-up. Three patients suffered dislocation and received closed reduction, all prosthesis were in good position during follow-up. No dislocation, loosening, fracture, recurrence of infection and vascular nerve injury occurred in other patients. Conclusion:Bispherical augment can effectively reconstruct acetabular bone defects, restore the hip center of rotation, and improve hip joint function scores at short and mid-term follow-up.

Objective:To investigate the phenotypic characteristics of dendritic cell (DC) in the peripheral blood of patients with chronic antibody-mediated rejection (CAMR) after kidney transplantation,revealing the potential role of DCs in the occurrence and development of CAMR.Methods:Case-control study. A total of 25 kidney transplant recipients who underwent kidney transplantation or were under long-term follow-up at West China Hospital of Sichuan University from October 1st, 2020, to July 31st, 2021, were recruited in this case-control study, comprising 15 cases of patients with CAMR and 10 cases of patients with stable renal function. Flow cytometry was used to analyze DC subsets in peripheral blood mononuclear cells (PBMC) of patients. Correlation analysis was conducted to explore the relationship between DC subsets and renal function indicators. Iterative cluster analysis was performed based on the absolute counts of DC, ILT3+ mDC, ILT3+ pDC,ILT4+ mDC and ILT4+ pDC in the CAMR group.Results:Compared with the stable renal function group, the percentages and absolute count of pDC, pDC/mDC ratio, and absolute count of ILT3+ pDC were decreased while percentages of ILT3+ mDC were increased in CAMR group . DC percentage was negatively correlated with Scr (r=-0.467, P=0.019) and CysC (r=-0.502, P=0.011) and positively correlated with eGFR (r=0.436, P=0.029). ILT4+ pDC percentage was positively correlated with CysC (r=0.433, P=0.031), and absolute count of DCs was negatively correlated with CysC (r=-0.425, P=0.034). Iterative cluster analysis defined two patient clusters with significant statistic differences of Scr, eGFR, and CysC detection results in the CAMR group.Conclusion:The distribution of DC subsets and the expression of ILT3 and ILT4 in the blood of post-transplant patients could provide new biomarkers for early identification of CAMR risk and optimization of immunosuppressive therapy strategies. Particularly, changes of pDC and the expression levels of ILT3, ILT4 can serve as valuable indicators for assessing post-transplant immune status and renal function prognosis.