AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

OBJECTIVE: To determine the impact of the lower limb weight bearing line ratio (WBLR) on motor function recovery after high tibial osteotomy (HTO). METHODS: A retrospective analysis was conducted on 55 patients with unilateral compartment knee osteoarthritis who underwent open-wedge HTO between August 2020 and October 2023 and met the selection criteria. Based on the postoperative Lysholm score, patients were divided into two groups: the good knee function group (Lysholm score≥90, group A) and the poor knee function group (Lysholm score<90, group B). Lysholm score, American Knee Society (AKS) score, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score, and visual analogue scale (VAS) score for pain were compared between the two groups. Univariate analysis was performed on baseline data including gender, age, body mass index (BMI), affected side, disease duration, Kellgren-Lawrence grade, and radiographic parameters [preoperative and postoperative medial proximal tibial angle, lateral distal femoral angle, femoral-tibial angle, hip-knee-ankle angle (HKA), WBLR, posterior tibial slope angle, and joint line convergence angle] to identify factors influencing functional recovery. Multivariate logistic regression analysis was further used to identify independent factors. Additionally, receiver operating characteristic (ROC) curve analysis was employed to determine the optimal cut-off value of postoperative WBLR for predicting motor function recovery, and the area under curve (AUC) was calculated to assess diagnostic performance. RESULTS: All 55 patients were followed up 10-14 months (mean, 11.8 months). According to the postoperative Lysholm score, there were 30 patients in group A and 25 in group B. All postoperative clinical scores in group A were significantly better than those in group B ( P<0.05). Univariate analysis indicated that age, BMI, postoperative HKA, and postoperative WBLR were influencing factors for motor function recovery ( P<0.1). Further multivariate logistic regression analysis identified a postoperative WBLR≤55.5% as an independent factor influencing motor function recovery ( P<0.05). ROC curve analysis yielded an AUC of 0.788 and determined the optimal postoperative WBLR cut-off value for predicting motor function recovery to be 55.5% ( P<0.001). CONCLUSION A postoperative WBLR of 55.5% is associated with optimal motor function recovery after HTO.
Humans ; Male ; Female ; Osteotomy/methods* ; Retrospective Studies ; Tibia/surgery* ; Recovery of Function ; Middle Aged ; Osteoarthritis, Knee/physiopathology* ; Weight-Bearing ; Knee Joint/surgery* ; Lower Extremity ; Aged ; Adult ; Treatment Outcome

Purpose/Significance To analyze the network security risk events monitored by the situational awareness platform of large hospitals,to find out the causes,and to put forward solutions and suggestions for improvement.Method/Process Taking the First Affiliated Hospital of Zhengzhou University as an example,the paper analyzes risk events on the situational awareness platform,screens the risky ter-minals on the hospital intranet,carries out rectification and reinforcement,analyzes the department distribution and causes of risky termi-nals,and puts forward suggestions for improvement.Result/Conclusion The number of risky terminals in medical and technical depart-ments is large,mainly due to the lack of management and the lack of full coverage of antivirus software.Through the rectification and rein-forcement of risky terminals,the number of network security risk events has been significantly reduced.Strengthening the hospital terminal security management,enhancing staff awareness of network security,and strengthening network security protection in different areas can ef-fectively reduce the incidence of hospital network security risk events and improve the hospital network security protection capability.

With the popularity of sports, the number of anterior cruciate ligament (ACL) injuries in children is increasing year by year. Most ACL injuries in children are tibial avulsion fractures or ACL body tears, seriously affecting the health and sports level of the patients. Due to the special anatomical structure of the patients, unclosed epiphysis makes the diagnosis and treatment of ACL injuries more complex. It is necessary to choose the optimal treatment regimen according to the bone maturity and the type and degree of ACL injuries to reduce the damage to the epiphysis and avoid the impact on the growth and development of the patients. It was treated with non-surgical treatment and then ACL reconstruction when the bones were mature in the past, which could cause secondary meniscus and cartilage damage. In recent years, non-surgical treatment has mainly been indicated for children with low-degree ACL injuries and small demand for exercise. With the increased ratio of early surgical treatment, the patients′ levels of recovery and return to sports after injury have been improved. However, improper surgery may still lead to complications such as growth and development disorders and postoperative re-injuries. Different from traditional ACL reconstruction, personalized diagnosis and treatment regimen of ACL injuries are very important for the patients at different stages of growth and development. For a better understanding of the diagnosis and treatment of ACL injuries in children, the authors reviewed the research progress on the diagnosis and treatment of ACL injuries in children from the aspects of the characteristics, diagnosis and evaluation, treatment methods, etc., hoping to provide a reference for the personalized diagnosis and treatment.

Objective:To investigate the clinical efficacy of over-the-top reconstruction combined with the modified Lemaire technique in the treatment of anterior cruciate ligament (ACL) injuries with pivot-shift positive.Methods:From March 2020 to October 2021, a total of 46 patients with ACL injury and pivot-shift test grade II or above were admitted to Xinhua Hospital Affiliated to Dalian University. There were 28 males and 18 females, aged 28.0±10.5 years (range, 15-45 years). All cases were unilateral, including 17 cases of left knee and 29 cases of right knee. The pivot-shift test showed that 30 cases were grade II and 16 cases were grade III, and the cause of injury was sports injury. The semitendinosus muscle and gracilis muscle were harvested, and the ACL was reconstructed with the over-the-top combined modified Lemaire technique. The International Knee Documentation Committee (IKDC) score, Lysholm score and KT-2000 side-to-side difference before and after operation were compared.Results:All patients successfully completed the operation and were followed up for 26.6±2.3 months (range, 24-28 months). The Lysholm scores of the patients at 3 months and 24 months after operation were 73.6±4.3 and 91.6±2.8, which were higher than those before operation (58.5±4.6), and the difference was statistically significant ( F=18.351, P<0.001). The IKDC scores of patients at 3 months and 24 months after operation were 59.0±2.0 and 91.8±3.2, respectively, which were higher than those before operation 50.3±2.8, and the difference was statistically significant ( F=17.290, P<0.001). The side-to-side difference of KT-2000 was 1.7±0.8 mm and 1.5±0.4 mm at 3 and 24 months after operation, respectively, which was lower than that before operation (5.9±1.1 mm), and the difference was statistically significant ( F=14.192, P<0.001). At 24 months after operation, 3 patients had pivot shift test grade I and 4 patients had Lachman test grade I, but they complained of good knee stability and did not receive further treatment. At the last follow-up, there were no complications such as incision and intra-articular infection, deep vein thrombosis, knee stiffness, quadriceps musculus ossificans myositis, and reconstruction ligament rupture. All patients returned to sports with an average time of 15.7±2.6 months (range, 12-24 months). Conclusion:Over-the-top reconstruction combined with the modified Lemaire technique for the treatment of ACL injury with positive pivot shift test effectively improves knee function and promotes the patient's return to sports, with a low incidence of surgical complications.

Objective To explore the role of retinol binding protein 7(RBP7)in breast cancer by bioinformatics.Methods R sofrware was used to explore the differential expression of the RBP7 gene in breast cancer by the cancer genome atlas(TCGA)dataset and the human protein atlas(HPA).Relationship between RBP7 and clinical data of breast cancer was evaluated by Kaplan-Meier survival analysis and receiver operating characteristic(ROC)curves.Correlation between high and low RBP7 expression groups and different tumor-infiltrating immune cells(TIICs)were analyzed based on the TCGA database.Gene set enrichment analysis(GSEA)was used to assess the distribute trends of RBP7 in gene tables sorted by phenotypic relatedness.Results RBP7 mRNA expression levels were down-regulated in breast cancer compared to paracancerous tissues,which were expressed in the nucleus.ROC curve analysis showed that the area under curve(AUC)of RBP7 for the diagnosis of breast cancer was 0.943(95%CI:0.926～0.960),and the best cut-off value of RBP7 was 6.29,with a sensitivity and specificity of 82.32%and 93.69%,respectively.Kaplan-Meier survival analysis showed that low expression of RBP7 was associated with overall survival rate in breast cancer patients(HR=0.68,95%CI:0.49～0.93,P=0.017),indicating that RBP7 was an independent risk factor for breast cancer.Spearman correlation showed that RBP7 was positively associated with pDC cells and NK cells(r=0.290,0.253,all P<0.05),and negatively associated with Th2 cells(r=-0.217,P<0.05)in breast cancer.GSEA showed that RBP7 was enriched in pathways such as adipogenesis,ribosome,peptiden ligand binding receptors,and calcium signaling pathway(all P<0.001).Conclusion RBP7 affects the occurrence and development of breast cancer,which may be a potential biomarker and therapeutic target for breast cancer.

With the continuous development of healthcare industry,hospital publicity plays a pivotal role in brand con-struction,image shaping,and fostering harmonious doctor-patient relationships.This article highlights the strategic approach of The First Affiliated Hospital/School of Clinical Medicine of Guangdong Pharmaceutical University to bolstering its correspondent team and enhancing its publicity efforts.By establishing a"1+2+3"working system--one principle,two systems,and three types of training--the goal is to build a correspondent team that is politically steadfast,high-quality,and dedicated.From 2021 to 2023,the hospital has witnessed a notable improvement in submissions from the correspondents.These advancements have not only elevated the hospital's media output but also significantly contributed to the broader dissemination of its publicity materials and the advancement of its brand identity.These efforts support the favorable development of news and public opinion within the health industry.

ObjectiveThis study aimed to evaluate the clinical efficacy of Ruyi Zhenbaowan（RYZBW）in the treatment of initial and early knee osteoarthritis （KOA） through a prospective multicenter，randomized，double-blind，and placebo-parallel controlled trial. MethodFrom October 13^th， 2021 to December 25^th， 2021， 240 KOA subjects meeting the acceptance criteria were enrolled in 15 sub-centers including Wangjing Hospital， Chinese Academy of Chinese Medical Sciences， and they were randomly divided into observation group and control group， with 120 cases in each group. The intervention measures for the observation group were RYZBW + health education， and the intervention measures for the control group were RYZBW placebo + health education. The intervention period in both groups was four weeks， and they were followed up for four weeks after the intervention. The primary outcome measure was the total score of Western Ontario and McMaster University Osteoarthritis Index score （WOMAC score）， and the secondary outcome measures were the response rate of visual scale （VAS） pain score， WOMAC sub item scores （joint pain， joint stiffness， and joint function）， quality of life （SF-12） score， and traditional Chinese medicine （TCM） syndrome score. Result（1） Efficacy evaluation. The marginal model results showed that the observation group was better than the control group in improving the WOMAC total score and WOMAC pain score in the treatment of KOA with RYZBW， and the difference was statistically significant （P<0.05）. There was no significant difference between the two groups in improving VAS score response rate， WOMAC function score， WOMAC stiffness score， SF12-PCS （quality of life-physical health） score， SF12-MCS （quality of life-mental health） score， and TCM syndrome score. （2） Subgroup analysis. ① In terms of VAS score response rate， the response rate of the observation group was higher than that of the control group for subjects with baseline VAS score of （4， 5］， and the difference was statistically significant （P<0.05）. ② In terms of TCM syndrome score， for subjects aged ［56， 60］ and ［61， 65］， the decrease in total TCM syndrome score in the observation group was better than that in the control group， and the difference was statistically significant （P<0.05）. ConclusionTibetan medicine RYZBW has good clinical efficacy in improving WOMAC total score， VAS score response rate， WOMAC pain score， WOMAC function score， and TCM syndrome score for patients with initial and early KOA， which can fill the lack of Tibetan medicine RYZBW in the treatment of KOA and make a demonstration study for the inheritance and development of ethnic medicine.

Objective: To assess the efficacy and safety of combining traditional Chinese medicine (TCM), specifically Chinese herbal medicine (CHM), with Western medicine (WM), compared to WM alone to treat breast cancer endocrine therapy-related osteoporosis (BCET-OP) by meta-analysis. Methods: Thirty-eight randomized controlled trials involving 2170 participants were analyzed. Eight databases were searched for articles published between inception and December 2023. Quality assessment was performed using the Risk of Bias 2 tool. Results: Significant increases were observed in the TCM-WM group in lumbar vertebrae bone mineral density (BMD) (P < .001, mean difference (MD) = 0.07, 95% confidence interval (CI): 0.06 to 0.08), lumbar vertebrae T-score (P = .0005, MD = 0.21, 95%CI: 0.09 to 0.33) and collum femoris BMD (P = .01, MD = 0.10, 95%CI: 0.02 to 0.19). No significant difference was observed between the groups in the collum femoris T-score and estradiol levels. Bone gla-protein levels were significantly increased in the TCM-WM group (P = .0002, MD = 0.52, 95%CI: 0.25 to 0.79). Beta-CrossLaps decreased significantly in the TCM-WM group (P = .0008, MD = −0.10, 95%CI: −0.16 to −0.04). No significant difference was observed between the TCM-WM and WM groups in alkaline phosphatase, in procollagen type I N-terminal propeptide, and in the Kupperman index. The visual analog score (VAS) was decreased in the TCM-WM group compared to the WM group (P < .001, MD = −1.40, 95%CI: −1.94 to −0.87). No significant difference in adverse events was observed between the two groups. Conclusion Combining CHM with WM in patients with BCET-OP significantly improved BMD, T-score, and certain bone turnover markers and reduced the VAS score, indicating potential benefits for bone health and related pain. Adverse event analysis revealed no differences between the groups, supporting the feasibility of the combination therapy. However, further research, particularly in diverse populations, is required.