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.

ObjectiveTo investigate the association of menopausal time and menopausal age with the risk of nonalcoholic fatty liver disease （NAFLD）， and to provide a basis for the early prevention and treatment of NAFLD in clinical practice. MethodsRelated data were collected from 373 postmenopausal women who attended the outpatient service of Department of Spleen， Stomach， Liver and Gallbladder Diseases， The First Affiliated Hospital of Henan University of Chinese Medicine， from January 2017 to December 2021， including general information， menopausal age， menopausal time， and presence or absence of NAFLD. The chi-square test was used for comparison of categorical data； the independent-samples t test was used for comparison of normally distributed continuous data between groups， and the Wilcoxon rank-sum test was used for comparison of non-normally distributed continuous data between groups. A Logistic regression analysis was used to calculate the association intensity and 95% confidence interval （95%CI） of menopausal time and menopausal age for the risk of NAFLD， and the restricted cubic spline （RCS） method was used to investigate the dose-response relationship between menopausal time/age and the risk of NAFLD. ResultsCompared with the women with normal menopause or late menopause， the women with early menopause had a higher prevalence rate of NAFLD and a higher degree of steatosis and fibrosis （all P<0.05）. After adjustment for the confounding factors such as age and age of menarche， the risk of NAFLD in women with a menopausal time of >3 years was 4.80 （95%CI： 1.93‍ ‍—‍‍ ‍11.95， P=0.001） times that in women with a menopausal time of ≤3 years， and the risk of NAFLD in women with early or late menopause was 8.14 times （95%CI： ‍1.77 ‍— ‍37.58， P=0.007） and 0.09 times （95%CI： 0.03 ‍— ‍0.32， P<0.001）， respectively， that in those with a normal menopausal age. There is a dose-response relationship between menopausal time/age and the risk of NAFLD. Menopausal time is positively correlated with the association intensity of NAFLD， while menopausal age is negatively correlated with the association intensity of NAFLD. ConclusionThe longer the menopause time and the earlier the menopause age， the ligher the risk of NAFLD.

Objective To analyze the urban drinking water quality and its influencing factors in Anhui Province from 2014 to 2022, and to provide a scientific basis for water quality improvement and protection. Methods The data were collected, saved and monitored according to the Standard Test Method for Drinking Water (GB/T5750-2006) and evaluated according to the Hygienic Standard for Drinking Water (GB 5749-2006). Results A total of 20 941 samples were collected, and the overall qualified rate was 84.26%. The qualified rate of urban drinking water increased from 76.9% in 2014 to 93.3% in 2022, and the qualified rate of water quality was on the rise (χ²=544.43, P＜0.01). From 2014 to 2022, the qualified rate of water quality in dry season was higher than that in wet season (χ²=35.98, P<0.001), the qualified rate of surface water was higher than that of ground water (χ²=4440.8, P<0.001), and the qualified rate of peripheral tap water was higher than that of factory water (χ²=145.1, P<0.001). Among all kinds of disinfection methods, chlorination disinfection had the highest qualified rate (χ²=1483.8, P<0.001). The qualified rate of water quality increased with the increase of the scale of water plant. Among the inspected indicators, the main unqualified indicators were chlorine dioxide (7.72%), fluoride (7.41%), free residual chlorine (3.90%), and total bacterial count (2.13%). Conclusion The passing rate of urban drinking water quality in Anhui Province is on an upward trend, and the quality of urban drinking water has improved. However, it is still important to pay attention to the problem of excessive microorganism and fluoride in water, and the quality of drinking water varies from place to place.

Hospital culture is the sum of common values， codes of conduct， and working methods formed by internal employees within the hospital， and it is the spiritual pillar and core of cohesion of the hospital. Party-building leadership plays an important role in promoting hospital culture construction， including strengthening values guidance， enhancing team cohesion， facilitating management system innovation， and shaping social image and brand value. By analyzing the effectiveness of a series of Party-building activities carried out by Xi’an No. 9 Hospital in recent years， this paper explored the effect and significance of Party-building leadership in promoting hospital culture construction in the new era， as well as proposed guiding strategies for strengthening Party-building work in promoting hospital culture construction in the new era， so as to promote high-quality development of the hospital.

BACKGROUND:Anthocyanin is one of the most important active components in Lycium ruthenicum Murr,which has antioxidant and immunomodulatory effects.CD146+human adipose-derived pericytes/perivascular cells(CD146+hAD-PCs)are the progenitors of bone marrow mesenchymal stem cells,which can promote the proliferation and differentiation of hematopoietic stem/progenitor cells in vitro.The support effect of anthocyanin in combination with CD146+hAD-PCs on umbilical cord blood hematopoietic stem/progenitor cells remains to be studied. OBJECTIVE:To investigate the supporting effect of anthocyanins in Lycium ruthenicum Murr(ALRM)combined with CD146+hAD-PCs on umbilical cord blood CD34+hematopoietic stem/progenitor cells(UCB CD34+HSPCs)in vitro. METHODS:The CCK-8 assay was used to detect the effect of different concentrations(0,200,400,600,800,1 000 mg/L)of ALRM on the proliferation of CD146+hAD-PCs.Flow cytometry was used to detect the effect of ALRM on the cell cycle of CD146+hAD-PCs.The co-culture experiments were divided into blank group,ALRM group,CD146+hAD-PCs group,and ALRM+CD146+hAD-PCs group to analyze the in vitro supporting effect of ALRM combined with CD146+hAD-PCs on UCB CD34+HSPCs.The number of expanded cells and the number of colony-forming units were compared at 1,2,and 4 weeks of co-culture.The immunophenotype of cells was detected by flow cytometry.The level of cytokines was detected by enzyme-linked immunosorbent assay. RESULTS AND CONCLUSION:(1)The cell viability of CD146+hAD-PCs was highest at an ALRM concentration of 200 mg/L,the proportion of G0/G1 phase cells decreased and the proportion of S and G2/M phase cells increased in CD146+hAD-PCs(P<0.01).(2)The change in number of UCB CD34+HSPCs cells in the ALRM+CD146+hAD-PCs group was higher than that in the ALRM group at 1,2,and 4 weeks of co-culture(all P<0.05),and higher than that in CD146+hAD-PCs group at 2 and 4 weeks of co-culture(all P<0.05).The number of cells in the ALRM group and blank group decreased gradually with the extension of co-culture time.(3)Colony forming capacity and immunophenotype analysis:The number of colony-forming units in the ALRM+CD146+hAD-PCs group was higher than that in the CD146+hAD-PCs group and ALRM group at 1 and 2 weeks of co-culture(P<0.05).The proportion of CD45+and CD34+CD33-cells in the ALRM+CD146+hAD-PCs group was higher than that in the CD146+hAD-PCs group at 1 and 2 weeks of co-culture(all P<0.01).(4)Changes in cytokines:Interleukin-2 level in the ALRM+CD146+hAD-PCs group was higher than that in the ALRM and CD146+hAD-PCs groups(P<0.05).The interleukin-3 content of the ALRM+CD146+hAD-PCs group was higher than that of the CD146+hAD-PCs group at 2 and 4 weeks(P<0.05).The expression level of granulocyte colony-stimulating factor in the ALRM+CD146+hAD-PCs group was higher than that in the CD146+hAD-PCs group at 1 week,and higher than that in the ALRM group and CD146+hAD-PCs group at 2 weeks(P<0.01).Interferon-γ content in the ALRM group and ALRM+CD146+hAD-PCs group was lower than that in the CD146+hAD-PCs group at 1,2,and 4 weeks of co-culture(P<0.01).(5)Due to the absence of stromal cells in the blank group,UCB CD34+HSPCs could not be counted after 1 week of co-culture and were not subjected to immunophenotyping,colony analysis,or cytokine assays.(6)In summary,ALRM can promote the expansion of UCB CD34+HSPCs in vitro by promoting CD146+hAD-PCs proliferation and cell cycle transformation,which is of great value in hematopoietic stem cell transplantation.

BACKGROUND:Acute myocardial infarction can cause cardiac remodeling and heart failure,as well as skeletal myopathy,affecting patients'quality of life.Exercise therapy is an important rehabilitation method for patients with heart failure;however,the optimal exercise prescription has not been clarified. OBJECTIVE:To compare the effects of different exercise modes(aerobic exercise,resistance exercise)on skeletal muscle remodeling in rats with acute myocardial infarction induced heart failure and to explore the possible mechanism,so as to provide a basis for optimizing the exercise rehabilitation program. METHODS:Forty-eight Sprague-Dawley rats were randomly divided into sham operation group,myocardial infarction group,aerobic exercise group and resistance exercise group.Coronary artery ligation was used to create model of heart failure.After 3 months,animals in the aerobic exercise group and resistance exercise group underwent 12 weeks of corresponding exercise mode interventions,while those in the sham operation group and myocardial infarction group were kept quietly in mouse cages.After the experiment,maximal running speed and maximal weight-bearing load were measured by graded treadmill exercise test and ladder-climbing test respectively,and heart structure and function were evaluated by echocardiography.The heart was isolated,and hematoxylin-eosin staining and Sirius red staining were performed to detect cardiac remodeling.For the gstrocnemius muscle,ATPase staining was performed to observe changes in muscle fiber type and cell cross-sectional area,dihydroethidium method was used to evaluate reactive oxygen species levels,enzyme-linked immunosorbent method was used to determine malondialdehyde content and antioxidant enzyme activity,western blot was used to determine the expression of ubiquitin-proteasome system proteins,and the number of activated satellite cells(Pax7+/MyoD+)were detected by double immunofluorescence staining. RESULTS AND CONCLUSION:(1)Exercise performance:Compared with the sham operation group,maximal running speed and maximal weight-bearing load in the myocardial infarction group decreased(P<0.05);compared with the myocardial infarction group,the maximal running speed of the aerobic exercise group and the maximal weight-bearing load of the resistance exercise group increased(P<0.05).(2)Cardiac remodeling:Compared with the sham operation group,infarction area,myocardial cell cross-sectional area,and collagen content in the myocardial infarction group increased(P<0.05),while leftventricular ejection fraction and shortening fraction decreased(P<0.05);compared with the myocardial infarction group,there was no statistical difference in the above parameters in both aerobic exercise resistance exercise groups(P>0.05).(3)Skeletal muscle remodeling:Compared with the sham operation group,gastrocnemius muscle mass,gastrocnemius muscle mass index,cell cross-sectional area,superoxide dismutase activity,glutathione peroxidase activity,and the number of activated satellite cells decreased in myocardial infarction group(P<0.05),while reactive oxygen species content,malondialdehyde content,and the protein expression of ubiquitin,MuRF1 and MAFbx increased(P<0.05);compared with the myocardial infarction group,gastrocnemius muscle mass index,superoxide dismutase activity,the number of activated satellite cells increased in both aerobic exercise and resistance exercise groups(P<0.05),while reactive oxygen species content and the protein expression of ubiquitin,MuRF1,and MAFbx decreased(P<0.05);compared with the aerobic exercise group,gastrocnemius muscle mass,gastrocnemius muscle mass index,cell cross-sectional area,reactive oxygen species content,malondialdehyde content,the number of activated satellite cells increased in resistance exercise group(P<0.05),while superoxide dismutase activity,glutathione peroxidase activity down-regulated(P<0.05).To conclude,aerobic exercise and resistance exercise can both improve exercise performance of rats with heart failure,and the mechanism is related to reducing oxidative stress,inhibiting ubiquitin-proteasome system activity and activating satellite cells to improve skeletal muscle remodeling.Aerobic exercise has a better effect on improving skeletal muscle oxidative stress,while resistance exercise has a more significant effect on promoting skeletal muscle regeneration.

According to the work goals and tasks determined by edition outline of the Chinese Pharmacopoeia 2025 Edition, the Chinese Pharmacopoeia 2025 Edition has been completed. Among them, 52 new pharmaceutical excipients monographs have been added, an increase of 15.5% compared with the 2020 Edition, and the total number has reached 387. This article focuses on the general framework and the main characteristics of the standards of pharmaceutical excipients in the Chinese Pharmacopoeia 2025 Edition, which can contribute to accurately understand and utilize the standards in Chinese Pharmacopoeia.

Objective:To investigate the clinical characteristics of omphalocele, and to assess the risk factors associated with adverse outcomes.Methods:A retrospective cohort study was conducted. Clinical data of 224 patients diagnosed with omphalocele, who were hospitalized at Children′s Hospital, Zhejiang University School of Medicine from January 2013 to December 2022, were collected. Based on their discharge outcomes, the patients were classified into 2 groups: favorable outcomes and unfavorable outcomes. Chi-square test or continuity correction χ2 test or Fisher exact probability method, and Mann-Whitney U test were used for intergroup comparisons. Logistic regression analysis was performed to identify risk factors associated with adverse outcomes in omphalocele. Results:Among the 224 patients with omphalocele, 126 were male. A total of 208 patients (92.9%) had favorable outcomes, while 16 patients (7.1%) had unfavorable outcomes. In the unfavorable outcomes group, 14 patients had giant omphaloceles, while 100 patients had giant omphaloceles in the favorable outcomes group. The rates of herniation of more than two intra-abdominal organs in the hernial sac, congenital heart defects, patent ductus arteriosus, pulmonary hypertension, sepsis and infection of the hernial sac, were all higher in the unfavorable outcomes group compared to the favorable outcomes group (all P<0.05). Patients with unfavorable outcomes had longer mechanical ventilation time, duration of oxygen use, duration of parenteral nutrition, hospital stays, and higher rates of parenteral nutrition-associated cholestasis compared to those with favorable outcomes (all P<0.01). Multivariate Logistic regression analysis indicated that pulmonary hypertension ( OR=9.39, 95% CI 1.20-73.32), sepsis ( OR=8.59, 95% CI 1.32-55.86), and congenital heart defects ( OR=6.55, 95% CI 1.11-38.73) were all independent risk factors for adverse outcomes in omphalocele (all P<0.05). Conclusions:Infants with omphalocele are prone to complications such as cardiovascular malformations, infections, and pulmonary hypertension. Adverse outcomes in omphalocele are associated with pulmonary hypertension, sepsis, and congenital heart defects.

ObjectiveTo investigate the protective effect and mechanism of action of flavonoid combination of Alpiniae Officinarum Rhizoma （A. officinarum） against Helicobacter pylori （H. pylori） gastritis in mice. MethodsAfter acclimatization for one week， 56 SPF-grade healthy C57BL/6J mice were gavaged with mixed antibiotics for three consecutive days. They were randomly divided into a normal group， model group， positive drug group （triple therapy group）， and low- and high-dose groups （100， 200 mg·kg^-1） of flavonoid combination of A. officinarum. The H. pylori gastritis mice model was established by gavage with H. pylori bacterial suspension in each group except for the normal group. After successful modeling， mice were administrated with corresponding drugs once a day for two weeks. Hematoxylin-eosin （HE） staining was used to observe the pathological changes in gastric tissue. Rapid urease test paper was used to detect the positive rate of H. pylori. Silver staining was used to observe the H. pylori adherence on the surface of gastric tissue. Immunohistochemistry was used to detect the protein expression of interleukin-8 （IL）-8 and myeloid differentiation factor （MyD88） in gastric tissue. The serum levels of IL-6， tumor necrosis factor-α （TNF-α）， IL-8， and IL-1β were detected by enzyme-linked immunosorbent assay （ELISA）. The expressions of phosphatidylinositol 3-kinase/protein kinase B （PI3K/Akt） protein were detected by Western blot. ResultsCompared with those in the normal group， mice in the model group had lower gastric weight coefficients， higher pH of gastric juice， 100% H. pylori infection rate， and significantly changed gastric histopathology. The expressions of IL-8 and MyD88 proteins in the gastric tissue of mice in the model group were significantly elevated， and the serum levels of inflammatory factors IL-6， TNF-α， IL-8， and IL-1β were significantly up-regulated in mice. Compared with that in the model group， the gastric weight coefficient of mice in each treatment group of the flavonoid combinations of A. officinarum was elevated （P<0.01）， and the pH of gastric juice was reduced （P<0.01）. The infection rate of H. pylori was reduced. The expressions of IL-8 and MyD88 proteins in the gastric tissue of mice in the treatment groups were significantly reduced （P<0.01）， and the serum levels of inflammatory factors IL-6， TNF-α， IL-8， and IL-1β were significantly reduced in a dose-dependent manner （P<0.01）. The flavonoid combinations of A. officinarum down-regulated the expression of PI3K and Akt proteins in H. pylori gastritis-infected cells （P<0.01）. ConclusionThe protective effect of flavonoid combinations of A. officinarum against H. pylori gastritis is associated with the inhibition of H. pylori infection rate and regulation of PI3K/Akt signaling pathway， resulting in inhibiting the release of inflammatory factors.