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

After the production of the gradient coil of the magnetic resonance imaging system, electromagnetic field testing is required to verify whether the assembly accuracy meets the electromagnetic field requirements. Since the passive magnetic field B _z satisfies the Laplace ^,s equation and is a harmonic function, and according to the extreme value principle of harmonic function, the maximum or minimum values of B _z can only appear on the boundaries, so the observation points of the magnetic field are generally selected on the surface of the spherical imaging area. For superconducting magnets used for human body magnetic resonance imaging, a spherical area with a center diameter of 40~50 cm is generally selected as the shimming target area. Only the field value of the target area needs to be measured, and the spherical harmonic coefficients obtained after data processing are used to determine the magnetic field performance of the gradient coil. There are many testing principles and methods for electromagnetic fields, so there is no unified way and method in the field of commercial applications. This article is based on the Gauss-Legendre numerical integration, measures and analyzes the magnetic field performance of gradient coils by building a data acquisition system, and this article applies numerical analysis methods to calculate the spherical harmonic coefficients of the magnetic field using discrete test data, providing a feasible method for the production and testing of gradient coils.
Magnetic Resonance Imaging/methods* ; Magnetic Fields ; Electromagnetic Fields ; Equipment Design

The casting and curing of gradient coils in the production process is a relatively complex process. The chemical process similar to the black box model requires confirmation of the impact of each step of input on the output results, while the curing temperature and molding method affect the roundness and deformation of the gradient coils. The analysis of the curing temperature and demolding method of gradient coils has important practical significance for the formation and micro deformation of gradient coils. This article uses ANSYS finite element simulation software to analyze the thermal structural coupling and the specific performance of actual products. It has been found that the product quality is more stable under the heat conduction mode, and the roundness of the mold is better when placed vertically and waiting for temperature cooling before being demolding than when placed horizontally.

Psoriasis is an incurable chronic inflammatory disease that requires new interventions. Here, we found that fibroblasts exacerbate psoriasis progression by promoting macrophage recruitment via CCL2 secretion by single-cell multi-omics analysis. The natural small molecule celastrol was screened to interfere with the secretion of CCL2 by fibroblasts and improve the psoriasis-like symptoms in both murine and cynomolgus monkey models. Mechanistically, celastrol directly bound to the low-density lipoprotein receptor-related protein 1 (LRP1) β-chain and abolished its binding to the transcription factor c-Jun in the nucleus, which in turn inhibited CCL2 production by skin fibroblasts, blocked fibroblast-macrophage crosstalk, and ameliorated psoriasis progression. Notably, fibroblast-specific LRP1 knockout mice exhibited a significant reduction in psoriasis like inflammation. Taken together, from clinical samples and combined with various mouse models, we revealed the pathogenesis of psoriasis from the perspective of fibroblast-macrophage crosstalk, and provided a foundation for LRP1 as a novel potential target for psoriasis treatment.

Objective To develop a Self-Report Scale of Symptoms for Post Intensive Care Syndrome-Family(PICS-F)and validate its reliability and validity,providing a scientific tool for healthcare professionals to comprehensively assess post intensive care syndrome-family.Methods Based on the symptom experience dimension of Symptom Management Theory,a preliminary version of the scale was developed through literature analysis,semi-structured interviews,expert consultations,and a pilot survey.A convenience sampling method was used to conduct the pre-trial version of the scale questionnaire survey on 442 family members of ICU patients at a tertiary A comprehensive hospital in Wuhan from June to September 2024.The test of the validity and reliability was conducted.Results The developed scale consists of 4 dimensions and 20 items.Exploratory factor analysis identified 4 factors,with a cumulative variance contribution rate of 70.921％.The content validity index at the scale level was 0.941,and the content validity indices for individual items ranged from 0.809 to 1.000.Confirmatory factor analysis indicated that the model fit indices were within acceptable ranges.The overall Cronbach's αcoefficient for the scale was 0.941,and the split-half reliability was 0.832.Conclusion The Self-Report Scale of Symptoms for PICS-F demonstrates good reliability and validity.It can comprehensively reflect the primary symptoms of PICS-F,and can serve as an effective measurement tool for clinicians to assess PICS-F in family members of ICU patients.

Objective:To document the effectiveness of ultrasound-guided genicular nerve block (GNB) in treating knee osteoarthritis (KOA).Methods:A total of 92 KOA patients were randomly divided into an observation group and a control group with 46 in each. Those in both groups were treated conventionally, including with non-steroidal anti-inflammatory drugs, acupuncture, ultrasound, laser irradiation and manipulation therapy. The observation group additionally underwent ultrasound-guided genicular nerve block treatment, once a week for 2 weeks. Pain scoring on a visual analog scale (VAS), the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) and a 6-minute walk test (6MWT) were used to evaluate everyone before and after the treatment, and then 8 weeks later.Results:In the observation group the average VAS rating [(3.54±2.00) at week 2 and (4.13±2.04) at week 8] and the average WOMAC subscale and total scores [(36.91±16.91) at week 8] had improved significantly right after the experiment and 8 weeks later. But in the control group this was true only right after the treatment. The observation group also demonstrated superior improvements in 6MWT distance at week 2 [(434.22±125.19)m] and week 8 [(446.35±126.45)m] compared to both its own baseline and the control group.Conclusions:Ultrasound-guided genicular nerve block is a rapid, precise, effective, and long-lasting intervention for alleviating pain, improving knee function and enhancing walking endurance in KOA patients.

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 evaluate the effect of robot-assisted laparoscopic technology via abdominal approach for patients with primary retroperitoneal tumors.Methods:A retrospective cohort analysis was conducted for the clinical data of 71 patients who underwent robot-assisted laparoscopic resection of primary retroperitoneal tumor via abdominal approach at the Department of Urology of Sir Run Run Shaw Hospital,Zhejiang University School of Medicine from January 2015 to December 2023. There were 35 male and 36 female patients. The age ( M(IQR)) was 56(21) years (range: 21 to 83 years). The median tumor diameter was 46 (31) mm (range: 15 to 134 mm). Postoperative pathology revealed 58 benign and 13 malignant cases. Patients were divided into non-adherent group ( n=47) and adherent group ( n=24) based on whether the tumor was adhered to major organs or vessels. Perioperative and postoperative situation were compared between the two groups. Data comparisons were conducted using independent samples t-test for normally distributed continuous variables, Mann-Whitney U tests for non-normally distributed data, χ2 test or Fisher′s exact test for categorical variables. Kaplan-Meier survival analysis was employed to estimate 3-year recurrence or metastasis rate and 3-year mortality rate. Results:Operative time was 120(60) minutes (range: 45 to 440 minutes), intraoperative blood loss was 50 (80) ml (range: 10 to 2 000 ml). The median change of intraoperative mean arterial pressure was 40 (19) mmHg(1 mmHg=0.133 kPa)(range: 10 to 112 mmHg). Intraoperative blood transfusion was required in 7 cases, whereas 64 cases did not necessitate transfusion. The change in hemoglobin levels before and after surgery was (17.9±13.6) g/L (range:-16 to 53 g/L), and the median change in serum creatinine levels was 2.0 (14.5) μmol/L (range:-71.0 to 100.4 μmol/L). Postoperative fasting duration was 2.0 (1.5) days (range: 1 to 6 days), and the median hospital stay was 10.0 (7.5) days (range: 4 to 24 days). No perioperative mortality occurred in any of the patients. The non-adherent group had shorter operation time, less estimated blood loss, lower blood transfusion rate, smaller delta value of hemoglobin before and after surgery, larger delta value of creatinine before and after surgery, fewer postoperative complications, shorter postoperative fasting time, and shorter length of hospital stay than the adherent group(all P<0.05), while there was no significant difference in mean arterial pressure fluctuation between the two groups ( P>0.05). Follow-up data were available for 69 patients, with a median follow-up duration of 39 (43) months (range: 4 to 88 months). Among these patients, 40 completed the 3-year follow-up. The 3-year recurrence or metastasis rate was 10.14%, and the 3-year mortality rate was 2.90%. Conclusions:Robot-assisted laparoscopic technology via abdominal approach for resection of primary retroperitoneal tumors is safe and feasible. It can also achieve secure surgical outcome for primary retroperitoneal tumors adherent to surrounding organs or vessels, albeit with increased surgical complexity and slower postoperative recovery compared to non-adherent cases.