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 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 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 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: Hypertrophic scars (HS) are a variety of skin tissue fibrosis disease that occurs in human skin, the effective therapeutic method of which is still inaccessible up to now. As a bioactive constituent of a well-known medical plant, Salvia miltiorrhiza (Danshen in Chinese), tanshinone II_A (TSA) is reported to inhibit cell proliferation in HS. Therefore, the aim of this study was to prepare TSA self-soluble microneedles to strengthen its dermal retention and break through the difficulty of significantly thickening epidermal connective tissue and stratum corneum at the HS site. The possible mechanism of action in suppressing HS was studied using human skin fibroblasts (HSF). METHODS: Tanshinone II_A self-dissolving microneedles (TSA-MN) was prepared using a negative mold casting method. The prescription process of microneedle was optimized by Box-Behnken effect surface method. Different media were selected to investigate the ability of transdermal absorption and in vitro release. Furthermore, according to Cell Counting Kit-8 (CCK8) method as well as the Western blot method, the effect of TSA-MN on the biological characteristics of HSF was investigated. RESULTS: With remarkable slow release effect and dermal retention, the release and transdermal properties of TSA-MN in vitro were better than both TSA and ordinary dosage forms. Its effect of HSF confirmed the essential decrease in cell motility during cell proliferation and cell migration in vitro, which plays a significant role in down-regulating the secretion of transforming growth factor-β₁ (TGF-β₁) in HSF and increasing the expression level of Smad7. CONCLUSION The prepared TSA self-soluble microneedles is helpful in solving the problem of hypertrophic scars, with a stable dermal retention effect after process optimization.

Tetrapyrrole compounds are a class of compounds with important functions. They exist in living organisms and have been widely used in agriculture, food, medicine, and other fields. The cumbersome process and high cost of chemical synthesis, as well as the shortcomings of unstable quality of animal and plant extraction methods, greatly hampered the industrial production and applications of tetrapyrrole compounds. In recent years, the rapid development of synthetic biology has provided new tools for microorganisms to efficiently synthesize tetrapyrrole compounds from renewable biomass resources. This article summarizes various strategies for the biosynthesis of tetrapyrrole compounds, discusses methods to improve its biosynthesis efficiency and future prospects, with the aim to facilitate the research on biosynthesis of tetrapyrrole compounds.
Biomass ; Plants/genetics* ; Synthetic Biology ; Tetrapyrroles

Objective:To explore the symptom experience of stress urinary incontinence (SUI) in pregnant women, so as to provide a basis for strengthening the prevention and control of SUI and formulating standardized symptom management strategies.Methods:From July 2018 to November 2019, purpose sampling was used to select 11 pregnant women with SUI undergoing routine prenatal examination in the Obstetric Clinic of Nanfang Hospital, Southern Medical University as the research objects. The semi-structured interview was conducted with pregnant women, and the data were analyzed using grounded theory in qualitative research.Results:A total of four themes were extracted, namely, lack of cognition, different coping attitudes, poor symptom experience, and urgent need for symptom management knowledge.Conclusions:SUI pregnant women generally have insufficient knowledge of the disease, poor symptom experience, different response attitudes, and urgent need for symptom management knowledge. Therefore, for SUI pregnant women, all aspects of personal-family-society support should be provided, social publicity of SUI symptom management knowledge should be strengthened, positive guidance and encouragement should be given, family members should be encouraged to participate, and an internet digital information platform should be actively constructed to ultimately reduce the incidence of SUI in pregnant women.

To investigate the value of injecting a small amount of absolute ethanol into the benign solid nodules of the thyroid before radiofrequency ablation(RFA)to improve the efficiency of radiofrequency ablation. A total of 98 eligible patients(98 nodules)with pathologically confirmed benign solid nodules who were treated in our center from December 2016 to February 2018 were included and randomized into ethanol ablation(EA)combined with radiofrequency ablation(RFA)group(EA+RFA group)and RFA group,with 49 patients in each group.Routine ultrasound,contrast-enhanced ultrasound(CEUS),and thyroid function test were performed before treatment and 1,3,6,and 12 months after treatment.The general information,treatment time,ablation energy,ablation power,postoperative nodule volume reduction ratio(VRR),symptom score(SS)and cosmetic score(CS),thyroid function level,and incidence of complications were compared between these two groups. The mean treatment time [(441.30±243.31)s (790.70±349.82)s;= 4.403, =0.000],mean ablation energy [(3.92±2.01)kJ (5.15±2.12)kJ;=2.709, =0.009],and mean ablation power [(6.07±1.44)W (7.30±1.29)W;=3.612, =0.006] were significantly lower in the EA+RFA group than in the RFA group.At 3,6 and 12 months after surgery,the VRR in the EA+RFA group was(57.73±11.07)%(=-3.16, <0.001),(64.40±10.56)%(=-5.45, <0.001),and(77.29±8.48)%(=-10.46, <0.001),respectively;the VRR in the RFA group was(55.44±13.01)%(=-1.76, <0.001),(65.28±11.33)%(=-5.09, <0.001),and(75.17±9.84)%(=-8.93, <0.001),which were significantly smaller than those before surgery.There was no significant difference in VRR between the EA+RFA group and the RFA group at 1(=3.41, =0.33),3(=2.05, =0.21),6(=2.77, =0.49),and 12 months(=5.05, =0.10)after treatment.During the follow-up,no recurrence of nodules was observed on CEUS.In the EA+RFA group,the SS [(1.77±0.86).(5.54±2.15);=9.63, <0.001] and the CS[(1.39±0.77).(3.32±0.61);=10.09, =0.004]at 12 months after surgery were significantly lower than those before surgery.In the RFA group,SS [(1.63±1.04).(5.90±1.79);=12.72, <0.001] and CS [(1.64±0.83).(3.15±0.72);=8.13, =0.012] at 12 months after surgery were also significantly lower than those before surgery.The CSS in the EA+RFA group was significantly lower than that in the RFA group [(0.93±0.55).(2.44±0.53);=-11.70, =0.007].Both groups had no significant change in thyroid function during the follow-up period,and no serious complications were observed. Anhydrous alcohol injection can effectively improve the efficiency of radiofrequency ablation in treating benign solid thyroid nodules and is effective in reducing nodule volume,alleviating compressive symptoms,and decreasing cosmetic discomfort.
Catheter Ablation ; Ethanol ; Humans ; Neoplasm Recurrence, Local ; Prospective Studies ; Thyroid Nodule ; Treatment Outcome