Objectives: To elucidate the potential mechanisms of electroacupuncture (EA) in restoring detrusor-bladder neck dyssynergia (DBND) following suprasacral spinal cord injury (SSCI). Methods: A total of 52 specific pathogen-free (SPF) grade famale Sprague-Dawley (SD) rats (10 – 12 weeks, 250 – 280 g) were randomly assigned to either a sham group (n = 12) or a spinal cord injury model group (n = 40). In the model group, DBND was induced through Hassan Shaker spinal cord transection at T10 level, with 24 rats meeting inclusion criteria and subsequently randomized into DBND group (n = 12) and EA intervention group (DBND + EA group, n = 12). After spinal shock recovery (day 19 after modeling), DBND + EA group received EA treatment at Ciliao (BL32), Zhongji (RN3), and Sanyinjiao (SP6) acupoints for 20 min per session at 10/50 Hz frequencies, once daily for 10 d. Sham and DBND groups received anesthesia only without EA intervention. On day 29 post-modeling, all rats underwent urodynamic assessments, followed by hematoxylin and eosin (HE) staining, tandem mass tag (TMT) proteomics, and Western blot (WB) analysis of detrusor and bladder neck tissues. Differentially expressed proteins (DEPs) were defined as proteins with P < 0.05, unique peptides ≥ 2, and fold change > 1.2 or < 0.83. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis was performed using KOBAS 3.0 (P < 0.01), and protein-protein interaction (PPI) networks were analyzed using Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) 11.5 and Cytoscape 3.9.1. Results: Compared with sham group, DBND group showed significantly elevated leak point pressure (LPP) and maximum cystometric capacity (MCC) (both P < 0.01). EA treatment significantly reduced both LPP and MCC compared with DBND group (P < 0.01 and P < 0.05, respectively). HE staining revealed that EA reduced detrusor fibrosis and improved bladder neck inflammation. TMT proteomics identified 30 overlapping DEPs in detrusor and 59 overlapping DEPs in bladder neck when comparing DBND + EA/DBND groups with sham group. In detrusor tissue, KEGG analysis revealed 10 significantly enriched pathways (P < 0.01), including mitogen-activated protein kinase (MAPK) signaling pathway. PPI analysis showed 22 of 30 DEPs were interconnected. In bladder neck tissue, 14 pathways were significantly enriched (P < 0.01), including relaxin signaling pathway, with 51 of 59 DEPs showing interconnections. Both TMT and WB validations demonstrated that compared with sham controls, DBND rats exhibited upregulated collagen type IV alpha 2 chain (Col4a2) and downregulated guanine nucleotide-binding protein G(z) subunit alpha (Gnaz) in detrusor tissue, while EA treatment normalized both proteins (both P < 0.05). In bladder neck tissue, DBND rats showed decreased expression of smoothelin (Smtn) and calcium-activated potassium channel subunit beta-1 (Kcnmb1) compared with sham controls (both P < 0.01), which were both upregulated following EA treatment (P < 0.01 and P < 0.05, respectively). Conclusion EA restores detrusor-bladder neck coordination in DBND through dual-target mechanisms. In detrusor tissue, EA modulates contraction via extracellular matrix remodeling, cyclic adenosine monophosphate (cAMP) signaling pathway regulation, and enhanced adenosine triphosphate (ATP) biosynthesis mediated by neurotransmitters. In bladder neck tissue, EA promotes relaxation by maintaining contractile phenotypes, reducing fibrosis, suppressing smooth muscle excitation, and regulating presynaptic neurotransmitter release. These findings provide mechanistic insights into EA's therapeutic role in managing DBND.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Objective:To explore the development and interaction between chronotype and depressive symp-toms among middle school students in Chongqing.Methods:A total of 1208 middle school students(613 in grade 7,595 in grade 10)were surveyed for three follow-ups at 6-month intervals.Periods T1-T3 represented baseline,6 months later,and 12 months later,respectively.Chronotype and depressive symptoms were measured by the Morn-ing and Evening Questionnaire-5(MEQ-5)and the Patient Health Questionnaire-9(PHQ-9).Analyses were per-formed using SPSS 26.0 and Mplus 8.3.Results:The MEQ-5 scores were lower in T1 than in T3,and the scores were lower in T2 than in T1 and T3(F=20.08,P＜0.001),suggesting a fluctuating trend of chronotype shifting to the Evening-type first after baseline and then to the Morning-type.The PHQ-9 scores exhibited a significant differ-ence among the three-time measurements(x2/df=9.77/2,P＜0.01).But pairwise comparisons did not yield any statistically significant findings(P＞0.05).The cross-lagged panel model showed that pathways of Ti MEQ-5 scores negatively predicted Ti+1 PHQ-9 scores(βTi-Ti+1=-0.12/-0.09,P＜0.05)and TiPHQ-9 scores nega-tively predicted Ti+1 MEQ-5 scores(βTi-Ti+1=-0.07/-0.11,P＜0.05).Conclusion:Chronotype and depressive symptoms show some changes in adolescents.The more inclined adolescents are to the Evening-type,the higher the likelihood of depressive symptoms occurring later.The more severe the depressive symptoms,the greater the likeli-hood of a subsequent shift to the Evening-type.

Objective:To develop, validate and initially apply a joint function and health assessment scale for juvenile idiopathic arthritis patients.Methods:The first draft of the juvenile idiopathic arthritis joint function and health assessment scale was developed through literature analysis, discussion by the research team, semi-structured interviews, Delphi expert correspondence. From March to June 2024, a total of 260 children with juvenile idiopathic arthritis or their parents were prospectively recruited from Department of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University by convenience sampling method for pre-investigation and formal investigation.The reliability and validity of the scale were tested by item analysis, reliability analysis, exploratory factor analysis, content validity and criterion validity analysis, and the responsiveness of the scale to clinical changes was evaluated by estimating the minimum clinically important difference, and finally the formal scale was formed.Results:The juvenile idiopathic arthritis joint function and health assessment scale included disease activity assessment, daily activity and function assessment, pain, fatigue and disease outcome assessment, with a total of 5 dimensions and 24 items, in which the functional assessment subscale included 4 secondary dimensions and 18 items. The Cronbach′s α coefficient of the function assessment subscale was 0.88, the fold-half reliability was 0.86, and the test-retest reliability after 2-4 weeks was 0.84; the item-level content validity index was 0.80-1.00, and the scale-level content validity index was 0.93. Exploratory factor analysis extracted 4 common factors with a cumulative variance contribution of 70.0%. Preliminary application indicated the functional assessment subscale was moderately correlated with childhood health assessment questionnaire ( r=0.70, P<0.05), the total scale was strongly correlated with juvenile arthritis disease activity score-27 ( r=0.92, P<0.05), and moderately correlated with both active and limited joint count ( r=0.77, 0.68, both P<0.05). Reactivity analysis suggested that the minimum clinically important difference between the two visits of 41 children with clinical improvement and 25 children with disease activity was 0.49 (0.44, 0.54) and 0.51 (0.43, 0.58). Conclusion:The juvenile idiopathic arthritis joint function and health assessment scale has good reliability and validity, and has certain responsiveness to clinical changes, is simple and operable, and can be used as a tool for assessing joint function in children with juvenile idiopathic arthritis.

Objective:To investigate the clinical characteristics of patients with malignant tumors and immune checkpoint inhibitors (ICI) related multisystem adverse events as well as therapeutic efficacy of ICI.Methods:The general data, immune-related adverse events (irAE) type, onset time, severity and ICI efficacy of patients with malignant tumors who developed irAE after receiving ICI in China-Japan Friendship Hospital between January 2019 and November 2021 were retrospectively analyzed. All patients were divided into multisystem irAE group and single system irAE group according to whether patients with more than 1 organ or system developed irAE for once. The occurrence of irAE was summarized, and the clinical characteristics of patients were compared. Progression-free survival analysis was not performed owing to the pause of immunotherapy caused by some irAE, so the efficacy of ICI was evaluated by using ICI treatment duration (TD).Results:A total of 47 patients with malignant tumors and irAE were included in this study, with 70 times of irAE in total. The median onset time was 90 d (35 d, 196 d). Among them, 12 patients (25.53%) developed multisystem irAE (32 times of irAE in total); the other 35 patients (74.47%) developed single system irAE (38 times of irAE in total). Cutaneous toxicity for 7 times, thyroid toxicity for 7 times and pulmonary toxicity for 5 times were the most frequent among multisystem irAE group; pulmonary toxicity for 13 times, thyroid toxicity for 12 times and cutaneous toxicity for 5 times were the most frequent among single system irAE group. There were no statistically significant differences in the proportion of patients stratified by age, gender, the combination of other treatments and different body mass between the two groups (all P > 0.05). The median follow-up time was 20 months (9-40 months). The median TD of ICI was 16.00 months (95% CI 3.62-31.22 months) in multisystem irAE group and 4.60 months (95% CI 4.12-11.30 months) in single system irAE group; TD in multisystem irAE group was longer than that in single system irAE group, and the difference was statistically significant ( HR = 0.413, 95% CI 0.202-0.844, P = 0.038). Conclusions:The efficacy of ICI in patients with malignant tumors and multisystem irAE is better than that in those with single system irAE. It suggests that the better efficacy of ICI may be associated with greater risk of irAE. There is no significant difference in the clinical features between multisystem irAE and single system irAE.

Objective: To analyse the influencing factors of myopia correction among primary and secondary school students with myopia and to compare the quality of visionrelated survival of students with different correction conditions. Methods: A total of 3 649 students from eight primary and secondary schools in a district of Chongqing were selected for myopia screening and vision related survival quality questionnaires using a stratified cluster random sampling method. Results: Univariate analysis showed that there were statistically significant differences in the rate of wearing eyeglasses among myopic students with different gender, school, educational stage, academic stress, and parenting style ( χ 2=10.98, 31.63, 31.86, 11.28, 9.59, all P <0.05). The fully vision correction rate among students wearing eyeglasses differed in educational stage, academic stress and parenting style ( χ 2= 11.77, 9.92, 8.69, all P <0.05). Multivariate Logistic regression analysis showed that gender, school and educational stage were all influencing factors of the rate of wearing eyeglasses (all P <0.01). Myopic students total scores on the Quality of Survival Scale were significantly higher than those of non myopic students ( t =20.07, P <0.01). There were significant differences in the scores of physical, emotional, visual and physical functioning and the total score of quality of survival scores among the three groups of myopic students without wearing eyeglasses, students with undercorrection and students with full vision correction ( F=49.93, 49.38, 28.14, 67.31, P <0.01). Conclusion Myopic students have low rates of wearing eyeglasses and fully vision correction. The rate of wearing glasses is different in urban and rural areas, gender and educational stage. The quality of life among myopic students is decreased by wearing eyeglasses, and the quality of life of undercorrected students is lower than that of fully corrected students. We should pay attention to the correction of myopia and improve the quality of life among myopic students.

Objective:To investigate the effect of using two different input functions to reconstruct 18F-FDG PET/CT Patlak multi-parameter images on the quantitative parameters of lung cancer lesions. Methods:The original whole-body dynamic 18F-FDG PET/CT scan data of lung cancer patients in the Department of Nuclear Medicine, First Affiliated Hospital of Anhui Medical University were retrospectively analyzed. The total scan time was 75 min. Two input functions were used for Patlak multi-parameter reconstruction: ① Image-derived input function(IDIF)using the Time-activity curve(TAC)of descending aorta from 0 min to 75 min. ② Population-based input function (PBIF) developed by Yale University. Metabolic rate of FDG (MR FDG) and Distribution volume (DV) images were obtained by Patlak multi-parameter analysis software using the above input functions. The region of interest (ROI) method was used to delineate the lesions to obtain multi-parameter quantitative information, including the max, peak and mean value of MR FDG and DV. Paired t-test was used for statistical analysis. Results:The original data of 27 lung cancer patients who received whole-body dynamic 18F-FDG PET/CT imaging were reconstructed by Patlak with two different input functions. The max, peak and mean values of MR FDG-IDIF and MR FDG-PBIF in lung cancer lesions were as follows: (0.26 ± 0.15), (0.19 ± 0.12), (0.14 ± 0.08)μmol·min -1·ml -1 and (0.26 ± 0.15), ( 0.20 ± 0.13), (0.15 ± 0.09)μmol·min -1·ml -1, with no statistically significant difference between two functions( P > 0.05). The max, peak and mean values of DV IDIF and DV PBIF were (165.56 ± 99.89)%, (117.66 ± 72.24)%, (62.16 ± 33.65)% and(170.04 ± 103.93)%, (121.91 ± 73.71)%, (65.05 ± 37.17)%, with no statistically significant difference between two functions ( P > 0.05). Conclusions:The population-based input function may be an alternative for patients who could not lie supine for long time during whole-body dynamic 18F-FDG PET/CT Patlak multi-parameter imaging.

Objective:To analyze the effect of transitional care model (TCM) mode combined with resistance breathing training on hypoxic reactivity of respiratory center in elderly obese obstructive sleep apnea-hypopnea syndrome(OSAHS).Methods:Totally 78 patients with OSAHS who met the criteria were selected from the geriatric department of Nanjing Drum Tower Hospital from January 2018 to December 2020 and divided into observation group and control group by random digits table method, with 39 cases in each group; the control group was intervened by basic nursing combined with resistance breathing training mode, and the observation group was intervened by TCM mode on the basis of the control group. Before nursing and 1 month after discharge, Pittsburgh Sleep Quality Index (PSQI), Short-Form 36-item Health Survey (SF-36), Montreal Cognitive Assessment (MoCA) were used to evaluate the sleep quality, quality of life and cognitive function of the patients. Besides, FVC, FEV 1, FEV 1/FVC were also tested before nursing and 1 month after discharge. Results:One month after discharge, the daytime dysfunction, use of sleep drugs, habitual sleep efficiency, subjective sleep quality, sleep disorder, sleep latency, sleep duration and total score of PSQI in the observation group were significantly lower than those in the control group (the control group: 2.27 ± 0.34, 2.03 ± 0.31, 2.09 ± 0.23, 1.85 ± 0.28, 2.11 ± 0.28, 1.40 ± 0.24, 2.12 ± 0.41, 13.87 ± 0.56; the observation group: 1.63 ± 0.33, 1.22 ± 0.29, 1.63 ± 0.29, 1.12 ± 0.31, 1.35 ± 0.34, 1.09 ± 0.28, 1.74 ± 0.26, 9.78 ± 0.59) ( t values were 4.91-31.61, all P<0.01). One month after discharge, the scores of mental health, physical pain, physiological function, physiological function, emotional function, life vitality, social function and overall health of SF-36 in the observation group were significantly higher than those in the control group (the control group: 62.83 ± 6.31, 68.94 ± 5.91, 61.99 ± 5.98, 64.85 ± 6.13, 43.28 ± 5.74, 64.85 ± 6.12, 61.21 ± 5.74, 62.31 ± 6.85; the observation group: 69.81 ± 5.74, 76.12 ± 6.02, 70.84 ± 6.08, 71.74 ± 5.99, 50.93 ± 6.12, 70.52 ± 5.94, 69.89 ± 5.53, 68.41 ± 4.99)( t values were 4.18-7.77, all P<0.01). One month after discharge, the scores of visual space and executive function, attention, language, delayed recall, orientation, abstraction and total score of MoCA in the observation group were significantly higher than those in the control group (the control group: 4.48 ± 0.37, 5.23 ± 0.29, 2.43 ± 0.27, 3.37 ± 0.31, 5.01 ± 0.33, 5.27 ± 0.26, 25.79 ± 1.17; the observation group:4.95 ± 0.31, 5.68 ± 0.27, 2.67 ± 0.24, 3.98 ± 0.19, 5.47 ± 0.28, 5.64 ± 0.23, 28.39 ± 1.09)( t values were 4.17-10.51, all P<0.01). One month after discharge, the levels of FVC, FEV 1 and FEV 1/FVC in the observation group were significantly higher than those in the control group, the control group: (2.59 ± 0.18) L, (1.60 ± 0.14) L, (61.78 ± 4.01)%; the observation group: (2.89 ± 0.19) L, (1.99 ± 0.17) L, (68.86 ± 3.99)% ( t = 7.21, 11.14, 7.87, all P<0.05). Conclusions:TCM combined with resistance breathing training can effectively improve the hypoxic response of respiratory center in elderly obese patients with OSAHS.

Lactic acid bacteria (LAB) are a representative probiotic. As the dominant flora in the human intestinal tract, LAB can regulate the balance of human intestinal flora and improve host health. The purpose of this study was to isolate and screen LAB that are well suited to the intestinal characteristics of the Chinese population, with excellent probiotics and high antibacterial activity. After 16S ribosomal RNA (rRNA) homology and phylogenetic tree analysis, potential probiotics were tested for their antibacterial activity, resistance to artificial gastrointestinal fluid and drugs, surface hydrophobicity, and safety. Three strains of LAB with acid resistance, bile salt resistance, epithelial cell adhesion, and no multidrug resistance were selected:

Objective:To explore the effect of “trinity”co-management mode in prevention of venous thromboembolism（VTE）during perioperative period in patients undergone major orthopedic surgery.Methods:A retrospective case-control study was conducted to analyze the clinical data of 120 patients undergone major orthopedic surgery in Second Affiliated Hospital of Wenzhou Medical University from January 2019 to August 2019，including 46 males and 74 females at age range of 43-89 years［（63.7 ±11.3）years］. Of all，58 patients were with intertrochanteric fracture，52 with femoral neck fracture and 10 with gonarthrosis. Hip fracture operation was performed in 58 patients，total hip replacement in 37，artificial femoral head replacement in 15 and total knee replacement in 10. A total of 60 patients were treated with traditional care，including traditional prevention of thrombosis，conventional VTE risk assessment，treatment and related health education（traditional care group），and 60 patients a with “trinity” co-management care（co-management care group）on the basis of the traditional care，including the trinity of health education，establishing VTE prevention group and VTE tracking table，strengthening postoperative rehabilitation care and exercise，optimization of medicine，nutrition and pain management. Swelling rate of injured limb，D-dimer level on admission and at postoperative days 3 and 7，incidence of VTE at postoperative day 7，length of hospital stay and patient satisfaction were compared between the two groups.Results:Three days and seven days after operation，swelling rate of the injured limb in co-management care group［13%（8/60），8%（5/60）］was significantly lower than that in traditional care group［42%（25/60），30%（18/60）］（ P < 0.05）. There was no significant difference in level of D-dimer between the two groups on admission（ P > 0.05）. Three days and seven days after operation，level of D-dimer［3.40（2.11，6.10）μg/ml，3.70（2.61，6.82）μg/ml］in co-management care group was significantly lower than that in traditional care group［6.37（3.60，9.81）μg/ml，6.42（3.62，9.83）μg/ml］（ P < 0.01）. Seven days after operation，incidence of VTE in co-management care group［3%（2/60）］was significantly lower than that in traditional care group［13%（8/60）］（ P < 0.05）. Length of hospital stay in co-management care group［（10.1 ± 2.2）days］was shorter than that in traditional care group［（11.4 ± 4.3）days］（ P < 0.05）. Nursing satisfaction was 93%（56/60）in co-management care group，higher than 72%（43/69）in traditional care group（ P < 0.05）. Conclusion:For patients undergone major orthopedic surgery，“trinity” co-management mode is effective to reduce the incidence of postoperative limb swelling，level of D-dimer as well as incidence of VTE，shorten the length of hospital stay and improve patients’ satisfaction during perioperative period.