Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China. However, the emerging challenges in clinical diagnosis and treatment of rare diseases make it unable for data and resource platform to fully meet the diversified needs. Under this backdrop, we have developed a protocol to optimize and upgrade the system based on the core functions of the NRDRS platform. The goal is to leverage intelligent digital technologies to transform NRDRS into a new platform integrating multimodal data and auxiliary diagnostic and treatment functions. It is specified as the development and construction of "one platform and four intelligent tools." Currently, we have upgraded and developed NRDRS platform, intelligent tool for genotype-phenotype analysis of rare diseases, AI-assisted diagnostic tool for rare diseases, remote multidisciplinary diagnosis and teaching tool for rare diseases, drug screening and validation tool for rare diseases. The next step will focus on the promotion of the application of these tools in clinical settings in order to address the issue of severe imbalance in the allocation of resources for the diagnosis and treatment of rare diseases. This article provides an overview of the digital and intelligent upgrades of the NRDRS, the trials in applications in clinical settings, and direction in the future.

OBJECTIVE: To investigate the analgesic effect of locally injecting a "cocktail" analgesia containing a high-dose compound betamethasone during revision hip arthroplasty, and also to study the usage of opioid drugs. METHODS: A retrospective analysis was conducted on the clinical data of 180 patients who underwent revision hip arthroplasty due to aseptic loosening of the hip prosthesis between January 2015 and December 2021. Among them, 95 patients received intraoperative injection of "cocktail" analgesia containing high-dose compound betamethasone (group A), and 85 patients received intraoperative injection of traditional "cocktail" analgesia (group B). There was no significant difference in baseline data such as gender, age, body mass index, presence or absence of diabetes mellitus between the two groups ( P>0.05). The hospital stay, use of opioid drugs within 72 hours, and the incidence of adverse reactions within 72 hours after operation [including nausea and vomiting, insomnia, deep venous thrombosis (DVT), infection, etc.] were recorded and compared between the two groups. The pain relief of patients was evaluated using the static and dynamic visual analogue scale (VAS) scores at 12, 24, 48, and 72 hours after operation. The incidence of complications (including prosthesis re-loosening, hip joint dislocation, hip joint stiffness, limping, chronic pain, etc.) at 2 years after operation was recorded, and the Harris Hip Score (HHS) was used to evaluate the function at 2 years after operation. RESULTS: In group A, the utilization rate of opioid drugs within 72 hours after operation was significantly lower than that in group B ( P<0.05). However, there was no significant difference between the two groups in terms of hospital stay, as well as the incidence of adverse reactions such as nausea and vomiting, insomnia, DVT, and infection within 72 hours after operation ( P>0.05). The VAS scores of both groups decreased with time, and the differences between different time points were significant ( P<0.05). The static and dynamic VAS scores of group A were significantly lower than those of group B at 12, 24, and 48 hours after operation ( P<0.05), but there was no significant difference in static and dynamic VAS scores between the two groups at 72 hours after operation ( P>0.05). All patients in both groups were followed up 2-8 years, with an average of 5.73 years. At 2 years after operation, no significant difference was found between the two groups in the incidence of complications and HHS score ( P>0.05). CONCLUSION "Cocktail" analgesia containing a high-dose compound betamethasone for early analgesia after revision hip arthroplasty can effectively reduce postoperative pain and the use of opioid drugs, but will not increase the incidence of infection and DVT after operation.
Humans ; Arthroplasty, Replacement, Hip/adverse effects* ; Betamethasone/therapeutic use* ; Retrospective Studies ; Male ; Female ; Analgesics, Opioid/administration & dosage* ; Pain, Postoperative/prevention & control* ; Middle Aged ; Reoperation ; Aged ; Analgesia/methods* ; Adult ; Pain Measurement ; Pain Management/methods* ; Prosthesis Failure ; Hip Prosthesis

Objective:To investigate the related factors for unexpected positive intraoperative cultures (UPC) in patients undergoing aseptic hip revision and the long-term prosthesis survival rate in such patients.Methods:A retrospective cases series analysis was conducted in 397 patients who underwent aseptic hip revision surgery at the Department of Orthopaedics, First Affiliated Hospital of Xinjiang Medical University from January 2012 to December 2021. There were 225 females and 172 males with an age ( M(IQR)) of 58(23) years (range:21 to 89 years) and a body mass index (BMI) of 25(6) kg/m 2 (range:15 to 39 kg/m 2). Based on the culture results of intraoperative specimens, patients were divided into culture-positive group (32 cases) and culture-negative group (365 cases). The clinical data were analyzed including gender, age, BMI, preoperative C-reactive protein, preoperative erythrocyte sedimentation rate, American Society of Anesthesiologists(ASA) classification, preoperative urinary bacteria, preoperative hypoproteinemia; comorbidities of diabetes mellitus, anemia, chronic obstructive pulmonary disease, cerebral infarction; history of allergy to antibiotics, smoking, drinking, previous prosthetic dislocation, previous surgical intervention; and time from symptom onset to admission, duration of surgery, etc. A univariate analysis was performed by Mann-Whitney U orχ2 test and the independent risk factors were identified by including the independent variables with P<0.20 in the univariate analysis in a logistic regression analysis of dichotomous variables. The study outcomes were defined as :(1) re-surgical treatment for any reason; (2)symptoms of infection such as sinus and incision seepage; (3) persistent excessive hip pain.The Kaplan-Meier survival curve was plotted using the study outcome of any cause as the endpoint event, and the log-rank test was used to compare the 10-year survival rate of the prosthesis in the culture-negative group with that in the culture-positive group. Results:Univariate analysis showed statistically significant differences between the culture-negative and culture-positive groups when comparing gender, BMI, ASA classification, and preoperative urinary bacterial results ( χ2=2.368, P=0.124; χ2=-1.648, P=0.098; χ2=14.128, P=0.003; and χ2=7.384, P=0.007). Logistic regression analysis showed that male, ASA classification Ⅳ, and positive preoperative urinary bacteria were independent risk factors for the development of UPC during aseptic hip revision( OR=2.35,95% CI:1.08 to 5.36, P=0.040; OR=37.32,95% CI:1.80 to 1 810.63, P=0.030; OR=4.11,95% CI:1.40 to 11.12, P=0.012). The follow-up time of the 397 patients included in this study was 70 (134) months (range:12 to 146 months). The Kaplan-Meier survival curves showed that the 10-year survival rates of the prostheses in the culture-negative and culture-positive groups were 95.7% and 75.0%, respectively. There was no statistically significant difference in the 10-year survival rate comparing the two groups ( P=0.661). Conclusions:UPC is more likely to occur in patients undergoing hip revision due to noninfectious factors in those who are male, have positive preoperative urinary bacteria, and have an ASA classification of Ⅳ. Intraoperative specimen culture results (negative or positive) do not affect 10-year prosthesis survival rate after hip revision.

Objective:To investigate the diagnostic efficacy of intraoperative direct sonication in periprosthetic joint infection (PJI).Methods:This is a retrospective case series study. The clinical data of 490 patients with PJI or aseptic prosthesis loosening after hip or knee arthroplasty admitted to the Department of Orthopaedics, First Affiliated Hospital of Xinjiang Medical University from January 2018 to December 2023 were retrospectively analyzed. There were 209 male cases, 281 female cases, aged ( M(IQR)) 63 (19) years (range: 15 to 89 years). There were 328 cases of PJI (123 cases of traditional sonication, 205 cases of intraoperative direct sonication, and 204 cases had simultaneous intraoperative synovial fluid), and 162 patients of aseptic loosening (89 cases of traditional sonication, 73 cases of intraoperative direct sonication, and 96 cases had simultaneous intraoperative synovial fluid). The method of traditional sonication: the prosthesis components were placed in a sterile container, vortexed for 30 seconds, then placed in an ultrasound bath to sonication (frequency:(40±2) kHz, power density:(0.22±0.04) W/cm2) for 5 minutes, vortexed again for 30 seconds, and the resulting sonicate fluid was extracted for culture. The method of intraoperative direct sonication: during the operation, the surgical area, the prosthesis and the tissues around the prosthesis which were placed in a sterile container were respectively subjected to sonication for 5 minutes using a portable handheld ultrasonic cell disruptor device (frequency: 25 kHz, power density:(0.22±0.04) W/cm2), and the fluids before and after sonication were extracted for culture. The method of intraoperative synovial fluid: during the operation, the joint capsule was incised, and the synovial fluid was extracted under direct vision for culture. The sensitivity, specificity, positive and negative predictive values, Youden index, the effect of preoperative antimicrobial agents on culture results, and culture duration for different culture methods. Receiver operating characteristic (ROC) curves were plotted, and the diagnostic efficacy of these methods for PJI was compared using the χ2 test, the Wilcoxon signed-rank test, and other appropriate statistical methods. Results:The sensitivity of intraoperative direct sonication was significantly higher than that of intraoperative synovial fluid culture (89.8%(184/205) vs.56.9%(116/204), χ2=44.457, P<0.01) and traditional sonication (89.8%(184/205) vs.66.7%(82/123), χ2=121.588, P<0.01). However, its specificity was lower compared to intraoperative synovial fluid (87.5%(64/73) vs. 99.0%(95/96), χ2=9.491, P=0.002). The culture duration for intraoperative direct sonication was shorter than for intraoperative synovial fluid 87.0 (41.8) hours vs. 112.5 (78.5) hours, Z=-5.121, P<0.01) and traditional sonication (87.0 (41.8) hours vs. 119.0 (67.5) hours, Z=-7.119, P<0.01). Gram-positive bacteria (predominantly Staphylococcus aureus and Staphylococcus epidermidis) were the most common isolates across all three culture methods. Furthermore, intraoperative direct sonication was more likely to detect polymicrobial infections compared to traditional sonication (38.6% vs. 2.4%, χ2=37.223, P<0.01) and intraoperative synovial fluid (38.6% vs. 0.9%, χ2=55.527, P<0.01). The ROC curve revealed that the area under the curve of intraoperative direct sonication,intraoperative synovial fluid culture and traditional sonication were 0.886 (95% CI:0.843 to 0.930), 0.779 (95% CI:0.743 to 0.815) and 0.788 (95% CI: 0.736 to 0.839). Conclusions:Compared with intraoperative synovial fluid and traditional sonication, intraoperative direct sonication has excellent sensitivity, the shortest appropriate culture duration for pathogenic bacteria, and it is more likely to diagnose PJI patients with polymicrobial infections, having better diagnostic efficacy in the diagnosis of PJI.

Psoriasis is a chronic,inflammatory,recurrent,and systemic disease mediated by immune dysregulation,which is often accompanied by psychological issues such as depression and anxiety.Recent research on the gut microbiota and depression and anxiety has made significant progress,with studies demonstrating that the gut microbiota plays a crucial role in the pathogenesis of psoriasis.Dysbiosis of the gut microbiota may be an important comorbidity mechanism linking psoriasis with depression and anxiety.This article summarizes the changes in the abundance of gut microbiota in patients with psoriasis and those with depression and anxiety,as well as how the gut microbiota influences this comorbidity through neural pathways and immune-endocrine pathways.It aims to provide novel perspectives for the study of the comorbidity mechanisms and clinical treatment of psoriasis and depression and anxiety.In the future,targeting the gut microbiota may enable the development of personalized treatments.

Psoriasis is a chronic,inflammatory,recurrent,and systemic disease mediated by immune dysregulation,which is often accompanied by psychological issues such as depression and anxiety.Recent research on the gut microbiota and depression and anxiety has made significant progress,with studies demonstrating that the gut microbiota plays a crucial role in the pathogenesis of psoriasis.Dysbiosis of the gut microbiota may be an important comorbidity mechanism linking psoriasis with depression and anxiety.This article summarizes the changes in the abundance of gut microbiota in patients with psoriasis and those with depression and anxiety,as well as how the gut microbiota influences this comorbidity through neural pathways and immune-endocrine pathways.It aims to provide novel perspectives for the study of the comorbidity mechanisms and clinical treatment of psoriasis and depression and anxiety.In the future,targeting the gut microbiota may enable the development of personalized treatments.

Objective:To investigate the related factors for unexpected positive intraoperative cultures (UPC) in patients undergoing aseptic hip revision and the long-term prosthesis survival rate in such patients.Methods:A retrospective cases series analysis was conducted in 397 patients who underwent aseptic hip revision surgery at the Department of Orthopaedics, First Affiliated Hospital of Xinjiang Medical University from January 2012 to December 2021. There were 225 females and 172 males with an age ( M(IQR)) of 58(23) years (range:21 to 89 years) and a body mass index (BMI) of 25(6) kg/m 2 (range:15 to 39 kg/m 2). Based on the culture results of intraoperative specimens, patients were divided into culture-positive group (32 cases) and culture-negative group (365 cases). The clinical data were analyzed including gender, age, BMI, preoperative C-reactive protein, preoperative erythrocyte sedimentation rate, American Society of Anesthesiologists(ASA) classification, preoperative urinary bacteria, preoperative hypoproteinemia; comorbidities of diabetes mellitus, anemia, chronic obstructive pulmonary disease, cerebral infarction; history of allergy to antibiotics, smoking, drinking, previous prosthetic dislocation, previous surgical intervention; and time from symptom onset to admission, duration of surgery, etc. A univariate analysis was performed by Mann-Whitney U orχ2 test and the independent risk factors were identified by including the independent variables with P<0.20 in the univariate analysis in a logistic regression analysis of dichotomous variables. The study outcomes were defined as :(1) re-surgical treatment for any reason; (2)symptoms of infection such as sinus and incision seepage; (3) persistent excessive hip pain.The Kaplan-Meier survival curve was plotted using the study outcome of any cause as the endpoint event, and the log-rank test was used to compare the 10-year survival rate of the prosthesis in the culture-negative group with that in the culture-positive group. Results:Univariate analysis showed statistically significant differences between the culture-negative and culture-positive groups when comparing gender, BMI, ASA classification, and preoperative urinary bacterial results ( χ2=2.368, P=0.124; χ2=-1.648, P=0.098; χ2=14.128, P=0.003; and χ2=7.384, P=0.007). Logistic regression analysis showed that male, ASA classification Ⅳ, and positive preoperative urinary bacteria were independent risk factors for the development of UPC during aseptic hip revision( OR=2.35,95% CI:1.08 to 5.36, P=0.040; OR=37.32,95% CI:1.80 to 1 810.63, P=0.030; OR=4.11,95% CI:1.40 to 11.12, P=0.012). The follow-up time of the 397 patients included in this study was 70 (134) months (range:12 to 146 months). The Kaplan-Meier survival curves showed that the 10-year survival rates of the prostheses in the culture-negative and culture-positive groups were 95.7% and 75.0%, respectively. There was no statistically significant difference in the 10-year survival rate comparing the two groups ( P=0.661). Conclusions:UPC is more likely to occur in patients undergoing hip revision due to noninfectious factors in those who are male, have positive preoperative urinary bacteria, and have an ASA classification of Ⅳ. Intraoperative specimen culture results (negative or positive) do not affect 10-year prosthesis survival rate after hip revision.

Objective:To investigate the diagnostic efficacy of intraoperative direct sonication in periprosthetic joint infection (PJI).Methods:This is a retrospective case series study. The clinical data of 490 patients with PJI or aseptic prosthesis loosening after hip or knee arthroplasty admitted to the Department of Orthopaedics, First Affiliated Hospital of Xinjiang Medical University from January 2018 to December 2023 were retrospectively analyzed. There were 209 male cases, 281 female cases, aged ( M(IQR)) 63 (19) years (range: 15 to 89 years). There were 328 cases of PJI (123 cases of traditional sonication, 205 cases of intraoperative direct sonication, and 204 cases had simultaneous intraoperative synovial fluid), and 162 patients of aseptic loosening (89 cases of traditional sonication, 73 cases of intraoperative direct sonication, and 96 cases had simultaneous intraoperative synovial fluid). The method of traditional sonication: the prosthesis components were placed in a sterile container, vortexed for 30 seconds, then placed in an ultrasound bath to sonication (frequency:(40±2) kHz, power density:(0.22±0.04) W/cm2) for 5 minutes, vortexed again for 30 seconds, and the resulting sonicate fluid was extracted for culture. The method of intraoperative direct sonication: during the operation, the surgical area, the prosthesis and the tissues around the prosthesis which were placed in a sterile container were respectively subjected to sonication for 5 minutes using a portable handheld ultrasonic cell disruptor device (frequency: 25 kHz, power density:(0.22±0.04) W/cm2), and the fluids before and after sonication were extracted for culture. The method of intraoperative synovial fluid: during the operation, the joint capsule was incised, and the synovial fluid was extracted under direct vision for culture. The sensitivity, specificity, positive and negative predictive values, Youden index, the effect of preoperative antimicrobial agents on culture results, and culture duration for different culture methods. Receiver operating characteristic (ROC) curves were plotted, and the diagnostic efficacy of these methods for PJI was compared using the χ2 test, the Wilcoxon signed-rank test, and other appropriate statistical methods. Results:The sensitivity of intraoperative direct sonication was significantly higher than that of intraoperative synovial fluid culture (89.8%(184/205) vs.56.9%(116/204), χ2=44.457, P<0.01) and traditional sonication (89.8%(184/205) vs.66.7%(82/123), χ2=121.588, P<0.01). However, its specificity was lower compared to intraoperative synovial fluid (87.5%(64/73) vs. 99.0%(95/96), χ2=9.491, P=0.002). The culture duration for intraoperative direct sonication was shorter than for intraoperative synovial fluid 87.0 (41.8) hours vs. 112.5 (78.5) hours, Z=-5.121, P<0.01) and traditional sonication (87.0 (41.8) hours vs. 119.0 (67.5) hours, Z=-7.119, P<0.01). Gram-positive bacteria (predominantly Staphylococcus aureus and Staphylococcus epidermidis) were the most common isolates across all three culture methods. Furthermore, intraoperative direct sonication was more likely to detect polymicrobial infections compared to traditional sonication (38.6% vs. 2.4%, χ2=37.223, P<0.01) and intraoperative synovial fluid (38.6% vs. 0.9%, χ2=55.527, P<0.01). The ROC curve revealed that the area under the curve of intraoperative direct sonication,intraoperative synovial fluid culture and traditional sonication were 0.886 (95% CI:0.843 to 0.930), 0.779 (95% CI:0.743 to 0.815) and 0.788 (95% CI: 0.736 to 0.839). Conclusions:Compared with intraoperative synovial fluid and traditional sonication, intraoperative direct sonication has excellent sensitivity, the shortest appropriate culture duration for pathogenic bacteria, and it is more likely to diagnose PJI patients with polymicrobial infections, having better diagnostic efficacy in the diagnosis of PJI.

Objective To investigate independent risk factors for unintended initial dissection of the posterior plane(UIDPP)during small incision lenticule extraction(SMILE)by surgeons with different qualifications.Methods A total of 1 600 patients(3 003 eyes)who underwent SMILE performed by three surgeons with different qualifications from April to September 2021 were selected as the research subjects,including 911 males and 689 females,with an average age of(21.82±3.55)years.The incidence of UIDPP in patients was recorded,along with a comprehensive summary of the age,gender,eyes,surgeons,surgical proficiency,subjective refraction,central corneal thickness,lenticule thickness,side cut angle,and peripheral lenticule thickness of the patients.Independent risk factors of UIDPP were analyzed using the binary logistic regression.Test level:α=0.05.Results In this study,the incidence of UIDPP was 6.56％(197/3 003),and the lenticule was successfully removed in all eyes.Multivariate logistic regression analysis demonstrated that surgeon(P=0.035),surgical proficiency(P=0.026),eyes(P=0.007),lenticule thickness(P＜0.001),and peripheral lenticule thick-ness(P＜0.001)were independent risk factors associated with the UIDPP during SMILE surgery.No significant differences were observed in other parameters(all P＞0.05).Conclusion Surgeons,surgical proficiency,eyes,lenticule thick-ness,and peripheral lenticule thickness are independent risk factors of UIDPP.

OBJECTIVE: To investigate the effectiveness of one-stage total knee arthroplasty (TKA) in the treatment of advanced active knee tuberculosis. METHODS: The clinical data of 38 patients with advanced active knee tuberculosis who received one-stage TKA between January 2011 and December 2020 were retrospectively analyzed. There were 20 males and 18 females. The age ranged from 20 to 84 years, with an average of 52.8 years. The body mass index ranged from 17 to 36 kg/m ², with an average of 23.05 kg/m ². The preoperative C reactive protein (CRP) was (23.49±4.72) mg/L, erythrocyte sedimentation rate (ESR) was (45.95±8.82) mm/1 h. The Hospital for Special Surgery (HSS) score was 48.8±9.1. During the operation, the infected lesions of the knee joint were completely removed, and the operative area was repeatedly soaked with 3% hydrogen peroxide solution and 0.5% povidone iodine solution. The intraoperative pathological examination confirmed the tuberculosis of the knee joint, and systemic anti-tuberculosis treatment was performed. The operation time, postoperative hospitalization stay, postoperative anti-tuberculosis chemotherapy time, and complications were recorded. CRP and ESR were recorded and compared before and after operation. Anteroposterior and lateral X-ray films of the knee joint were taken to evaluate whether the prosthesis had signs of loosening and sinking, and to determine whether there was recurrence of tuberculosis. The knee joint function was evaluated by HSS score. With treatment failure due to any reason as the end event, the survival time of prosthesis was analyzed by Kaplan-Meier survival curve. RESULTS: All operations were successfully completed without fracture, vascular and nerve injury, deep vein thrombosis, and other complications. All incisions healed by first intention after operation. The operation time ranged from 80 to 135 minutes, with an average of 102.76 minutes; postoperative hospitalization stay was 5-16 days, with an average of 9.7 days; the duration of postoperative anti-tuberculosis chemotherapy ranged from 1 to 18 months, and the median duration was 12 months. All 38 cases were followed up 3-133 months (mean, 63.7 months). At last follow-up, CRP was (4.88±1.24) mg/L and ESR was (13.00±2.97) mm/1 h, both of which were significantly lower than those before operation ( t=20.647, P<0.001; t=20.886, P<0.001). During the follow-up, 3 patients (7.89%) had tuberculosis recurrence. Two patients had tuberculosis recurrence due to withdrawal of anti-tuberculosis chemotherapy at 1 and 2 months after operation, respectively. One patient was cured after debridement, preservation of prosthesis and anti-tuberculosis chemotherapy for 12 months, and 1 patient was cured after oral administration of anti-tuberculosis drugs for 12 months. Another 1 patient had recurrent tuberculosis and mixed infection ( Corynebacterium gehreni) at 2 months after operation, and the infection was not controlled after debridement, and finally the thigh was amputated. Except for the patients with recurrent infection, no complications such as prosthesis loosening, periprosthetic fracture, and periprosthetic infection were found. At last follow-up, the HSS score of the knee joint was 86.8±4.8, and the knee joint function significantly improved when compared with that before operation ( t=-31.198, P<0.001). Prosthesis survival time was (122.57±5.77) months [95% CI (111.25, 133.88) months], and the 10-year survival rate was 92.1%. CONCLUSION One-stage TKA combined with postoperative antituberculous chemotherapy in the treatment of advanced active knee tuberculosis can achieve satisfactory infection control and joint function.
Female ; Male ; Humans ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Arthroplasty, Replacement, Knee ; Retrospective Studies ; Knee Joint ; Tuberculosis ; Antitubercular Agents/therapeutic use*