Guangzhou Women and Children's Medical Center (GWCMC) established a Rare Disease Medical Center in December 2023 and assumed responsibility for the construction of the Guangdong Provincial Rare Disease Quality Control Center. As a national children's regional medical center and a core institution for maternal and child health in the Guangdong-Hong Kong-Macao Greater Bay Area, GWCMC leverages its disciplinary strengths in maternal and pediatric specialties, centers on the diagnosis and treatment needs of rare diseases in women and children, and carries out a systematic layout in such aspects as clinical diagnosis, treatment and service system, technical system and platforms, scientific research innovation and academic influence, talent echelon and capacity building, as well as quality control and regional collaboration. This paper reviews the development trajectory of the GWCMC Rare Disease Center, summarizes its phased experience in high-quality development, and offers reflections on future directions.

OBJECTIVE To analyze the prototype components absorbed into blood and brain of Lithocarpus litseifolius leaves， so as to provide a reference for clarifying the pharmacological material basis of its prevention and treatment of central nervous system dis eases. METHODS The ethanol extract of L. litseifolius leaves， as well as the gastric lavage fluid and perfusion solution were prepared. Using rats as subjects， plasma samples of intestinal wall metabolism， intestinal flora metabolism and hepatic metabolism were prepared via in situ intestinal perfusion and closed intestinal loop method； while comprehensive metabolic plasma samples， brain tissue samples， and cerebrospinal fluid samples were collected after intragastric administration. UPLC-HRMS technology was utilized to analyze and identify chemical components and prototype components absorbed into blood and brain of L. litseifolius leaves. RESULTS A total of 66 chemical constituents were identified in L. litseifolius leaves， primarily consisting of flavonoids， organic acids， and others. A total of 16， 13， 11， and 5 prototype components were identified in intestinal wall metabolism， intestinal flora metabolism， hepatic metabolism， and comprehensive metabolic plasma samples， respectively. Additionally， 4 prototype components were detected in brain tissue and 9 in cerebrospinal fluid. Phloridzin， trilobatin， phloretin-2- O -malonyl hexoside， and phloretin were identified as common components across all sample types. CONCLUSIONS Prototype components absorbed into blood and brain of L. litseifolius leaves， such as phloridzin， trilobatin， phloretin， and other components may serve as the pharmacological material basis for their therapeutic effects on central nervous system diseases.

Objective To explore the application value of different Trocar layouts in retroperitoneal laparoscopic partial nephrectomy for localized renal cell carcinoma, so as to provide reference for the layout of Trocar during operation. Methods The data of 137 patients with localized renal cell carcinoma who underwent retroperitoneal laparoscopic partial nephrectomy in our hospital during Sep. 2021 and Sep. 2024 were retrospectively collected, including 68 patients with umbrella layout(umbrella group)and 69 with trapezoidal layout(trapezoidal group). The operation-related indexes, renal function(glomerular filtration rate, serum creatinine), traumatic stress indexes including C-reactive protein(CRP), cortisol, and interleukin-6(IL-6), complications and recurrence rate were compared between the two groups. Results There were no significant differences in pathological results, negative rate of surgical margins, hospitalization time, complications, 1-year recurrence rate, 6-month glomerular filtration rate and serum creatinine between the two groups(P＞0.05). Compared with the trapezoidal group, the umbrella group had less intraoperative blood loss [(72.11±18.30)mL vs.(87.59±20.63)mL], shorter operation time [(88.15±16.92)min vs.(99.40±20.78)min], renal warm ischemia time [(14.68±4.60)vs.(19.27±6.11)min], bowel sound recovery time [(21.00±5.75)h vs.(25.78±4.89)h] and ambulation time [(1.72±0.48)d vs.(2.04±0.55)d](P＜0.05). The umbrella group had lower CRP [(10.02±2.78)mg/ L vs.(12.00±3.15)mg/ L] on the first day after surgery, lower CRP [(7.89±0.76)vs.(8.77±1.25)mg/L] on the third day after surgery, lower cortisol [(0.67±0.20)μmol/L vs.(0.89±0.28)μmol/L] on the first day after surgery, lower cortisol [(0.58±0.15)μmol/L vs.(0.69±0.12)μmol/L] on the third day after surgery, lower IL-6 [(28.20±6.74)ng/L vs.(35.16±7.30)ng/L] on the first day after surgery, and lower IL-6[(21.25±5.39)ng/L vs.(29.78±4.26)ng/L] on the third day after surgery(P＜0.05). Conclusion Compared with the trapezoidal Trocar layout, the umbrella Trocar layout for retroperitoneal laparoscopic partial nephrectomy in patients with localized renal cell carcinoma offers advantages such as minimal surgical trauma, shorter operation and renal warm ischemia time, and faster postoperative recovery.

ObjectiveThis study aimed to evaluate the effects of cycloastragenol （CAG） on mitochondrial dysfunction during cardiac remodeling and to elucidate its regulatory role in myocardial energy metabolic homeostasis and the associated transcriptional regulatory axis. MethodsA rat model of heart failure （HF） was established by ligation of the left anterior descending coronary artery. Rats were randomly divided into a control group， a model group， a captopril group （3.25 mg·kg^-1）， a low-dose CAG group （10 mg·kg^-1， CAG-L）， and a high-dose CAG group （20 mg·kg^-1， CAG-H）. After 28 days of treatment， left ventricular ejection fraction （LVEF）， left ventricular fractional shortening （LVFS）， left ventricular end-diastolic diameter （LVIDd）， and left ventricular end-systolic diameter （LVIDs） were assessed by echocardiography. Serum levels of N-terminal pro-brain natriuretic peptide （NT-proBNP）， creatine kinase-MB （CK-MB）， cardiac troponinⅠ （cTnI）， interleukin-1β （IL-1β）， interleukin-6 （IL-6）， tumor necrosis factor-α （TNF-α）， and cyclic adenosine monophosphate （cAMP） were measured by enzyme-linked immunosorbent assay （ELISA）. Hematoxylin-eosin （HE） and Masson's trichrome staining were used to evaluate myocardial histopathology and fibrosis. Wheat germ agglutinin （WGA）， reactive oxygen species （ROS）， and terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling （TUNEL） staining were performed to assess cardiomyocyte hypertrophy， oxidative stress， and apoptosis. Adenosine triphosphate （ATP） content and the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ were determined by colorimetric assays. The mRNA expression of α-smooth muscle actin （α-SMA）， Col Ⅰ， and Col Ⅲ was detected by Real-time quantitative polymerase chain reaction （Real-time PCR）， while the protein levels of β₂-adrenergic receptor （ADRB2）， protein kinase A （PKA）， phosphorylated cAMP response element-binding protein/total cAMP response element-binding protein （p-CREB/CREB）， peroxisome proliferator-activated receptor γ coactivator-1α （PGC-1α）， nuclear respiratory factor 1 （NRF1）， and mitochondrial transcription factor A （TFAM） were analyzed by Western blot. ResultsCompared with the control group， the model group exhibited significantly decreased LVEF， LVFS， and ATP levels （P<0.05）， and markedly increased LVIDd， LVIDs， NT-proBNP， CK-MB， cTnI， IL-1β， IL-6， TNF-α， ROS levels， TUNEL-positive rate， Col deposition area， and the mRNA expression of α-SMA， Col Ⅰ， and Col Ⅲ （P<0.05）. In addition， the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ， the protein expression of ADRB2， PKA， p-CREB， PGC-1α， NRF1， and TFAM， as well as the cAMP content， were significantly reduced （P<0.05）. Compared with the model group， both low- and high-dose CAG significantly increased LVEF and LVFS， and decreased LVIDd， LVIDs， and the levels of NT-proBNP， CK-MB， and cTnI （P<0.05）. CAG treatment alleviated myocardial disarray and Collagen deposition， and downregulated the mRNA expression of α-SMA， Col Ⅰ， and Col Ⅲ. The treatment markedly reduced ROS generation and the TUNEL-positive rate （P<0.05）， thereby attenuating cardiomyocyte hypertrophy and inflammatory responses. Furthermore， CAG treatment increased ATP content and the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ， accompanied by upregulation of PGC-1α， NRF1， TFAM， ADRB2， PKA， and p-CREB protein expression as well as cAMP levels （P<0.05）. The CAG-H group showed the most pronounced improvements， which were superior to those of the captopril group and the CAG-L group. ConclusionCycloastragenol delays adverse cardiac remodeling and improves cardiac function by activating the ADRB2-mediated GPCR/cAMP/PKA/CREB signaling pathway， enhancing the PGC-1α/NRF1/TFAM activity， promoting mitochondrial energy metabolism remodeling， and suppressing oxidative stress， inflammation， and myocardial fibrosis.

ObjectiveThis study aimed to evaluate the effects of cycloastragenol （CAG） on mitochondrial dysfunction during cardiac remodeling and to elucidate its regulatory role in myocardial energy metabolic homeostasis and the associated transcriptional regulatory axis. MethodsA rat model of heart failure （HF） was established by ligation of the left anterior descending coronary artery. Rats were randomly divided into a control group， a model group， a captopril group （3.25 mg·kg^-1）， a low-dose CAG group （10 mg·kg^-1， CAG-L）， and a high-dose CAG group （20 mg·kg^-1， CAG-H）. After 28 days of treatment， left ventricular ejection fraction （LVEF）， left ventricular fractional shortening （LVFS）， left ventricular end-diastolic diameter （LVIDd）， and left ventricular end-systolic diameter （LVIDs） were assessed by echocardiography. Serum levels of N-terminal pro-brain natriuretic peptide （NT-proBNP）， creatine kinase-MB （CK-MB）， cardiac troponinⅠ （cTnI）， interleukin-1β （IL-1β）， interleukin-6 （IL-6）， tumor necrosis factor-α （TNF-α）， and cyclic adenosine monophosphate （cAMP） were measured by enzyme-linked immunosorbent assay （ELISA）. Hematoxylin-eosin （HE） and Masson's trichrome staining were used to evaluate myocardial histopathology and fibrosis. Wheat germ agglutinin （WGA）， reactive oxygen species （ROS）， and terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling （TUNEL） staining were performed to assess cardiomyocyte hypertrophy， oxidative stress， and apoptosis. Adenosine triphosphate （ATP） content and the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ were determined by colorimetric assays. The mRNA expression of α-smooth muscle actin （α-SMA）， Col Ⅰ， and Col Ⅲ was detected by Real-time quantitative polymerase chain reaction （Real-time PCR）， while the protein levels of β₂-adrenergic receptor （ADRB2）， protein kinase A （PKA）， phosphorylated cAMP response element-binding protein/total cAMP response element-binding protein （p-CREB/CREB）， peroxisome proliferator-activated receptor γ coactivator-1α （PGC-1α）， nuclear respiratory factor 1 （NRF1）， and mitochondrial transcription factor A （TFAM） were analyzed by Western blot. ResultsCompared with the control group， the model group exhibited significantly decreased LVEF， LVFS， and ATP levels （P<0.05）， and markedly increased LVIDd， LVIDs， NT-proBNP， CK-MB， cTnI， IL-1β， IL-6， TNF-α， ROS levels， TUNEL-positive rate， Col deposition area， and the mRNA expression of α-SMA， Col Ⅰ， and Col Ⅲ （P<0.05）. In addition， the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ， the protein expression of ADRB2， PKA， p-CREB， PGC-1α， NRF1， and TFAM， as well as the cAMP content， were significantly reduced （P<0.05）. Compared with the model group， both low- and high-dose CAG significantly increased LVEF and LVFS， and decreased LVIDd， LVIDs， and the levels of NT-proBNP， CK-MB， and cTnI （P<0.05）. CAG treatment alleviated myocardial disarray and Collagen deposition， and downregulated the mRNA expression of α-SMA， Col Ⅰ， and Col Ⅲ. The treatment markedly reduced ROS generation and the TUNEL-positive rate （P<0.05）， thereby attenuating cardiomyocyte hypertrophy and inflammatory responses. Furthermore， CAG treatment increased ATP content and the activities of mitochondrial respiratory chain complexes Ⅰ-Ⅳ， accompanied by upregulation of PGC-1α， NRF1， TFAM， ADRB2， PKA， and p-CREB protein expression as well as cAMP levels （P<0.05）. The CAG-H group showed the most pronounced improvements， which were superior to those of the captopril group and the CAG-L group. ConclusionCycloastragenol delays adverse cardiac remodeling and improves cardiac function by activating the ADRB2-mediated GPCR/cAMP/PKA/CREB signaling pathway， enhancing the PGC-1α/NRF1/TFAM activity， promoting mitochondrial energy metabolism remodeling， and suppressing oxidative stress， inflammation， and myocardial fibrosis.

OBJECTIVE To investigate the current status of air quality in clean operating rooms in Xi'an and explore the possible influencing factors,thus to provide data support for improving the quality of operating room manage-ment.METHODS According to GB50333-2013"Architectural technical code for hospital clean operating depart-ment",on-site monitoring was conducted from 2017 to 2021 on the air quality of 242 clean operating rooms in 41 hospitals in Xi'an,and the results were compared and analyzed.RESULTS Among the operating rooms being sur-veyed,130 were from secondary hospitals,112 from tertiary hospitals;seventy-nine were ClassⅠoperating rooms,26 were ClassⅡ,137 were ClassⅢ.The pass rate for settling bacterial was 98.35%,with 94.94%for ClassⅠoperating rooms,which was significantly lower than that in ClassⅡand ClassⅢ operating rooms(χ2=6.565,P=0.022).The pass rate for dust particles was 69.01%,with 43.04%for ClassⅠoperating rooms,and there was significant difference among different levels of operating rooms(χ2=37.304,P<0.001).The pass rate for dust particles in tertiary hospitals was 61.61%,lower than that in secondary hospitals(75.38%;χ2=5.340,P=0.021).The pass rate for dust particles≥0.5μm and≥5μm were 85.12%and 74.79%,respectively.Among the operating rooms with unqualified dust particles,those with both≥0.5 μm and≥5 μm dust particles not meeting standards accounted for 29.33%,and those with only≥0.5 μm dust particles not meeting standards accounted for 18.67%.Multivariate logistic regression analysis showed that influencing factors for air quality in clean operating rooms included the year of monitoring and the level of the operating room,while the sampling area and hospital level were not statistically associated with the outcomes.CONCLUSION The overall air quality of op-erating rooms in Xi'an is not optimistic,the pass rate is affected by the year of monitoring and the clean levels of the operating rooms,indicating a need to strengthen routine management and monitoring of clean operating rooms.

Objective To investigate prognostic value of serum levels of cathepsin B(CTSB)and NADPH oxidase 4(NOX4)in patients with sepsis associated acute kidney injury(S-AKI).Methods A total of 306 pa-tients with sepsis treated to the hospital from June 2023 to June 2024 were selected,including 192 patients with S-AKI(S-AKI group)and 114 patients without S-AKI(non-S-AKI group).According to the prognosis of S-AKI patients,they were divided into poor prognosis group(n=127)and non-poor prognosis group(n=65).The differences of CTSB and NOX4 in different groups were compared.Pearson analysis was conducted to analyze the correlation between CTSB,NOX4 and clinical indicators.The influencing factors of poor prognosis in S-AKI patients was analyzed according to multivariate Logistic regression.Receiver operating characteristic(ROC)curve was used to analyze the predictive value of CTSB and NOX4 on the poor prognosis of S-AKI pa-tients.Results Th e serum levels of CTSB,NOX4 and serum creatinine(SCr)in S-AKI group were signifi-cantly higher than those in non-S-AKI group(P＜0.05),while the mean arterial pressure and oxygenation in-dex were lower than those in non-S-AKI group(P＜0.05).Serum levels of CTSB and NOX4 in patients with sepsis were positively correlated with SCr(P＜0.05).Compared to non-poor prognosis group,the age,SCr,CTSB and NOX4 of patients in the poor prognosis group were higher,while the mean arterial pressure and ox-ygenation index were lower(P＜0.05).The increased mean arterial pressure and oxygenation index were pro-tective factors for poor prognosis in S-AKI patients(P＜0.05),and the increased age,SCr,CTSB and NOX4 levels were risk factors for poor prognosis in S-AKI patients(P＜0.05).ROC curve showed that the area un-der the curve(AUC)of CTSB combined with NOX4 was significantly higher than AUC of single detection of CTSB and NOX4(Z=4.066,P＜0.001,Z=3.801,P＜0.001).Conclusion The serum levels of CTSB and NOX4 in S-AKI patients are elevated,and can indirectly reflect kidney function.CTSB combined with NOX4 can significantly improve the prediction efficiency of poor prognosis in S-AKI patients,which has potential ap-plication value for clinical treatment and nursing.

Objective:To explore the diagnostic value of transcranial magnetic stimulation (TMS), transsacral magnetic root stimulation combined with sacral reflexes, external anal sphincter electromyography and pudendal nerve somatosensory evoked potentials in the assessment of neurogenic lower urinary tract dysfunction (NLUTD).Methods:Twenty-one NLUTD patients (1 with a supra-pontine lesion, 5 with a spinal cord injury, 5 with a cauda equina injury, and 10 with pelvic floor disorders) were enrolled. Needle electromyography (EMG) was used to record TMS-induced and transsacral magnetic stimulation-induced motor evoked potentials (tc-MEPs and ts-MEPs, respectively) related to the external anal sphincter (EAS). The dorsal nerve of the penis or clitoris was stimulated electrically to record the latency of the sacral reflex related to the EAS. Central motor conduction time (CMCT) and the tc/ts-MEP latency ratio were calculated to distinguish central from peripheral lesions.Results:In the one patient with a supra-pontine lesion, although the tc-MEP and ts-MEP latencies were within normal limits, the CMCT was prolonged (28.2ms) and the tc/ts-MEP ratio was large (7.4). Among the five patients with a spinal cord injury, one exhibited prolonged tc-MEP latency (50.6ms) and CMCT (47.8ms), along with a large tc/ts-MEP ratio (18.1). In the five patients with cauda equina injury and the ten with NLUTD secondary to pelvic floor disorders, CMCT was within the normal range [averaging (22.9±4.9ms) and (24.2±3.5ms), respectively], but the ts-MEP latency was prolonged [(7.1±2.1ms) and (8.6±3.7ms), respectively], and the tc/ts-MEP ratio was small [(4.4±0.9) and (4.3±1.5), respectively]. The tc/ts-MEP ratio demonstrated the best rate of abnormality detection (93.8%), with an area under the curve of 0.99, indicating good sensitivity.Conclusions:The tc/ts-MEP ratio can be useful for distinguishing central and peripheral lesions. A markedly increased tc/ts-MEP ratio may suggest central nervous system injury, whereas a decreased ratio may indicate peripheral nervous system injury.

Objective:To investigate gait alterations in patients with rheumatoid arthritis (RA) complicated with knee joint damage and to explore the potential of using gait analysis to evaluate the effectiveness of precision medical or surgical treatments in RA patients, serving as a reference for future gait-related research.Methods:A total of 45 patients with cumulative knee joint RA and 45 healthy control subjects were recruited from May 2021 to May 2022. Gait analysis and scale scoring were performed to compare gait changes between the two groups. Statistical tests including t-test, Mann-Whitney U, and Pearson Chi-square were used to assess group differences. Results:Compared with the control group, the objective gait indexes of the knee involvement in patients with rheumatoid arthritis were double support time [(523±127)ms and (333±45)ms, t=-9.48, P<0.001], total support time [(904±137) ms and (678±101)ms, t=-8.90, P<0.001], step length [(635±81) ms and (548±56) ms, t=-5.91, P<0.001], walking cycle [(1 273±169) ms and (1 075±104) ms, t=-4.76, P<0.001], the proportion of single support cycle (0.298±0.037 and 0.334±0.015, t=6.06, P<0.001), the proportion of double support cycle (0.408±0.069 and 0.309±0.021, t=-7.90, P<0.001), total support period ratio (0.709±0.035 and 0.628±0.041, t=-10.01, P<0.001), step length [(40±5)cm and (52±4)cm, t=9.02, P<0.001], step length [(77±11)cm and (104±8)cm, t=12.71, P<0.001] and the pace [(0.708±0.168) m/s and (1.050±0.192) m/s, t=8.98, P<0.001] were significantly different. Conclusion:Gait analysis can be utilized for the quantitative evaluation of patients with rheumatoid arthritis (RA), complicated with knee darnage, enabling objective quantification of assessment indicators and offering novel ideas and methodologies for diagnosing and treating of patients with RA.

Objective:To investigate the clinical characteristics of children with Chikungunya fever.Methods:This retrospective cohort study analyzed clinical data of 91 children with Chikungunya fever at the Department of Pediatrics, Foshan women and Children Hospital between July 2025 and August 2025. The patients were divided into four groups based on onset-age: 0-<1 year, 1-<3 years, 3-<6 years, and 6-14 years. One-way ANOVA and chi-square tests were used to compare the clinical features of children with Chikungunya fever at different ages.Results:Among the 91 children with chikungunya fever, 55 were male and 36 were female, with an onset age of 6 (2, 11) years, age groups comprised 0-<1 year (10 cases), 1-<3 years (13 cases), 3-<6 years (17 cases) and 6-14 years (51 cases). Fever occurred in 87 cases (96%), with 50 cases (57%) had high fever. Skin rash was observed in 89 cases (98%), and 60 cases (67%) had a generalized rash. Joint pain was reported in 57 cases (63%), among which 35 cases (61%) had pain in two or more locations, with the knee involved in 21 cases (37%), the ankle in 15 cases (26%), and the wrist in 6 cases (11%).The knee was the most commonly affected joint 21 cases (37%), followed by the ankle 15 cases (26%) and wrist 6 cases (10%). Joint ultrasound was performed in 31 cases (34%), all showed joint effusion, including 8 cases (26%) without complaints of joint pain. The incidence of high fever was significantly lower in the 3-<6 years and 6-14 years groups compared to the 0-<1 year group (both P<0.05). The 6-14 years group also had a lower incidence of high fever than the 1-<3 years group ( P<0.05). The 1-<3 years group had longer duration of fever than the 3-<6 years and 6-14 years groups (both P<0.05). The incidence of joint pain was higher in the 3-<6 years and 6-14 years groups compared to the 1-<3 years group (both P<0.05), and higher in the 6-14 years group than in the 3-<6 years group ( P=0.007). Among all 91 children, 22 cases (24%) had abnormal liver function, 49 cases (54%) showed elevated lactate dehydrogenase (LDH), and 2 cases (2%) had elevated creatine kinase. The proportions of elevated aspartate aminotransferase (AST) and LDH were higher in the 0-<1 year and 1-<3 years groups compared to the 3-<6 years and 6-14 years groups (all P<0.05). Conclusions:The clinical characteristics of children with Chikungunya fever vary among children of different ages. Children in the 0-<3 years are more prone to high fever with longer duration and generalized maculopapular rash, while the children in the 6-14 years have have a higher proportion of joint pain, and joint ultrasound revealed effusion in all examined children. AST and LDH levels are elevated in the 0-<3 years groups.