Objective To investigate the serum amino acid levels in patients with acute schizophrenia(SCZ)and their predictive effect on the improvement of cognitive function after treatment,so as to provide new insights into the clinical intervention of cognitive impairment in SCZ patients.Methods A total of 66 patients with acute SCZ were enrolled(case group-baseline period).Among them,36 cases completed the follow-up after 3 months of standardized treatment(case group-follow-up period);52 healthy controls(HCs)were included.The MATRICS Consensus Cognitive Battery(MCCB)was used to assess the cognitive function of all the participants.Liquid chromatography-tandem mass spectrometry(LC-MS)was employed to detect the concentrations of 18 amino acids in fasting serum of the case group-baseline period and the control group.Independent samples t-test was used to compare serum amino acid levels and cognitive function between the case group-baseline period and the control group.Paired t-test was used to compare the differences in cognitive function between the baseline period and the follow-up period of the case group.Spearman correlation analysis and multivariate linear regression model were used to investigate the correlation between serum amino acid levels at baseline in the case group and the improvement of cognitive function after 3 months of treatment.Results Compared with the control group,the cognitive function of SCZ patients in multiple dimensions at baseline was significantly reduced(P＜0.05).After treatment,the scores of Trail Making Test(TMT),Brief Assessment of Cognition in Schizophrenia:Symbol Coding(BACS),Wechsler Memory Scale-Ⅲ(WMS),and Brief Visuospatial Memory Test-Revised(BVMT)in patients were significantly improved(all P＜0.05).In addition,the levels of proline,methionine,histidine,phenylalanine,arginine,tyrosine,aspartic acid,tryptophan,lysine,and glutamic acid were significantly lower in the case group at baseline than in the control group(all P＜0.05).Among them,the baseline tyrosine level had a significant predictive value for the improvement of TMT(R2=0.136,P=0.029),Neuropsychological Assessment Battery(NAB)(R2=0.339,P＜0.001),and Mayer-Salovey-Caruso Emotional Intelligence Test(MSCEIT)test(R2=0.165,P=0.015).The baseline arginine level had a significant predictive value for the improvement rate of Fluency test(R2=0.113,P=0.048).Conclusion There is a decrease in various amino acid levels in patients with SCZ,and some amino acids can effectively predict the improvement of cognitive function after treatment.

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 explore common target genes related to aging and osteoporosis using data from public databases and to screen for small molecule compounds with potential therapeutic effects.Methods Osteoporosis datasets GSE56814 and GSE56815 were downloaded and merged from the public gene expression database(Gene Expression Omnibus(GEO)).Senescent genes were selected and merged from the genecard database and the cell age database.Data cleaning and differential gene selection were performed using R software,and a volcano plot was created.Weighted gene co-expression network analysis was performed to screen out key modules and genes,and the machine learning methods were employed to screen target genes.A Venn diagram was drawn using the the Microbioinformatics platform,and cytoscape software was used to visualise protein interactions results.Interaction analysis of differentially encoded proteins was carried out using the STRING database,and prediction of small molecule compounds was carried out using Cmap database.Finally,Receiver operating characteristic(ROC)curves were plotted to find out the most meaningful target genes,followed by the establishment of a logistic regression model and the creation of a nomogram.Results A total of 127 differential genes were screened using the limma package.Weighted gene co-expression network analysis was performed on the differential genes and 103 highly expressed genes were screened.Three machine learning methods,lasso regression,support vector machine and random forest model,were used to finally obtain four target genes:FOXO3,HIRA,CBX5 and RAD1.The nomogram and calibration curves showed good predictive results.Five small molecule compounds with potential therapeutic effects were identified using the Cmap database:sakuraflavin(O-methylated isoflavone),XMD-885,kangaroo hyoscyamine,everolimus and XMD-1150.Conclusion FOXO3 and HIRA genes have now been confirmed to be the common target genes for aging and osteoporosis,and sakuraflavin has potential therapeutic effects on both conditions.

Objective To investigate the serum amino acid levels in patients with acute schizophrenia(SCZ)and their predictive effect on the improvement of cognitive function after treatment,so as to provide new insights into the clinical intervention of cognitive impairment in SCZ patients.Methods A total of 66 patients with acute SCZ were enrolled(case group-baseline period).Among them,36 cases completed the follow-up after 3 months of standardized treatment(case group-follow-up period);52 healthy controls(HCs)were included.The MATRICS Consensus Cognitive Battery(MCCB)was used to assess the cognitive function of all the participants.Liquid chromatography-tandem mass spectrometry(LC-MS)was employed to detect the concentrations of 18 amino acids in fasting serum of the case group-baseline period and the control group.Independent samples t-test was used to compare serum amino acid levels and cognitive function between the case group-baseline period and the control group.Paired t-test was used to compare the differences in cognitive function between the baseline period and the follow-up period of the case group.Spearman correlation analysis and multivariate linear regression model were used to investigate the correlation between serum amino acid levels at baseline in the case group and the improvement of cognitive function after 3 months of treatment.Results Compared with the control group,the cognitive function of SCZ patients in multiple dimensions at baseline was significantly reduced(P＜0.05).After treatment,the scores of Trail Making Test(TMT),Brief Assessment of Cognition in Schizophrenia:Symbol Coding(BACS),Wechsler Memory Scale-Ⅲ(WMS),and Brief Visuospatial Memory Test-Revised(BVMT)in patients were significantly improved(all P＜0.05).In addition,the levels of proline,methionine,histidine,phenylalanine,arginine,tyrosine,aspartic acid,tryptophan,lysine,and glutamic acid were significantly lower in the case group at baseline than in the control group(all P＜0.05).Among them,the baseline tyrosine level had a significant predictive value for the improvement of TMT(R2=0.136,P=0.029),Neuropsychological Assessment Battery(NAB)(R2=0.339,P＜0.001),and Mayer-Salovey-Caruso Emotional Intelligence Test(MSCEIT)test(R2=0.165,P=0.015).The baseline arginine level had a significant predictive value for the improvement rate of Fluency test(R2=0.113,P=0.048).Conclusion There is a decrease in various amino acid levels in patients with SCZ,and some amino acids can effectively predict the improvement of cognitive function after treatment.

Background and purpose:Rectal cancer is one of the malignant tumors that seriously harm human health in the world,ranking third in incidence and second in mortality.With the development of social and economic level,the incidence and mortality of colorectal cancer in China are increasing,and China becomes one of the countries with high incidence of colorectal cancer disease in the world.The recommended treatment for locally advanced rectal cancer is neoadjuvant chemoradiotherapy combined with surgery,which greatly improves the prognosis of patients.However,intestinal adverse reactions such as diarrhea caused by neoadjuvant chemoradiotherapy are increased,and some patients are forced to delay or interrupt treatment due to serious side effects.Amifostine is a broad-spectrum normal cell protective agent,which has good protective effect against various radiochemotherapy toxicity.We conducted a retrospective analysis of patients with locally advanced rectal cancer who received neoadjuvant radiotherapy combined with irinotecan concurrent chemotherapy to investigate whether concurrent use of amifostine alleviated gastrointestinal and hematological toxicities.Methods:A retrospective cohort analysis was used in this study.Clinical data of patients with locally advanced rectal cancer who received neoadjuvant chemoradiotherapy at the Affiliated Cancer Hospital of Fudan University during the period of discharge from January 1,2018 to December 31,2019 were retrospectively collected.The patients were divided into 2 groups by whether amifostine was used during the same period.The main purpose of the study was to analyze whether amifostine can reduce gastrointestinal and hematological toxicities,and secondary objectives included whether amifostine could alter tumor marker levels,mesorectal fascia invasion(MRF)positive rate,extramural vascular invasion,positive rate of EMVI and pathological complete response(pCR).Using SAS9.4 statistical software,the normality test was carried out for continuous variables.The rank sum test of Wilcoxon was performed when the diarrhea grade did not conform to normal distribution.Analysis of variance was performed for intra-group comparison,and Wilcoxon rank sum test was performed for inter-group comparison.Because of the imbalance between groups,the difference between the two groups was compared using a generalized linear model.This study strictly followed the STrengthening the Reporting of OBservational studies in Epidemiology(STROBE)guidelines to ensure the transparency of the research methodology and the reliability of the results.Results:Finally,154 eligible patients were included,of whom 78 were in the amifostine group and 76 were in the control group.The highest grade of diarrhea in amifostine group was 1.00(1.00,1.00),lower than that in control group(2.00,3.00),and the difference between groups was statistically significant(P＜0.01).After radiotherapy,white blood cell count(WBC),hemoglobin(HB)and absolute neutrophil count(ANC)from the two groups were obtained.ANC and platelet count(PLT)showed no statistically significant difference(P＞0.05),and the lowest values of WBC,RBC and PLT did not have statistically significant difference between the two groups during neoadjuvant period(P＞0.05).Amifostine may not alleviate hematological toxicity.Carbohydrate antigen 72-4(CA72-4)(Z=2.22,P=0.03),carbohydrate antigen 50(CA50)(Z=-2.49,P=0.01)and carbohydrate antigen 24-2(CA24-2)had statistically significant difference(Z=-2.29,P=0.02).There were no significant differences in MRF positive rate(P=0.11),EMVI positive rate(P=0.61)and pCR rate(P=0.94)between the two groups.Conclusion:Concurrent administration of amifostine in patients with locally advanced rectal cancer receiving neoadjuvant chemoradiotherapy can reduce gastrointestinal toxicity and reduce the levels of tumor markers CA72-4,CA50 and CA24-2.However,it may have no significant effect on improving hematological toxicity,MRF and EMVI positive rate and pCR rate.

Objective To investigate the effect of peripheral blood bile acids on the cognitive function of schizophrenia patients.Methods Targeted metabolomics was adopted to analyze the total level of primary and secondary serum bile acid metabolites collected from 23 schizophrenia patients and 23 health control individuals.The MATRICS Consensus Cognitive Battery(MCCB)was adopted to evaluate the subjects'cognitive function in five dimensions.Results We found that the schizophrenia patients had impaired cognitive functions in multiple dimensions including speed of processing,working memory,reasoning and problem solving,and visual learning.Compared with the health control group,serum levels of cholic acid(CA)and chenodeoxycholic acid(CDCA)were significantly lower in patients with schizophrenia,while serum level of glycocholic acid(GCA)was significantly higher,and the ratio of deoxycholic acid(DCA)to CA was higher(3.04 vs.1.16).Speed of processing,working memory,reasoning and problem solving,and visual learning abilities were significantly negatively correlated with serum levels of multiple primary bile acids including taurocholic acid(TCA),GCA,glycochenodeoxycholic acid(GCDCA)and taurochenodeoxycholic acid(TCDCA),after adjustments of age,sex,and body mass index.Conclusion The bile acid profile of schizophrenia patients is obvious,and the decrease in neuroprotective bile acids(namely,CA and CDCA)and the up-regulation of cytotoxic bile acid(i.e.,GCA)may impair the cognitive function of schizophrenia patients.

Objective:To investigate the effect of narrative nursing on stigma, stoma adaptation and quality of life in patients with permanent enterostomy.Methods:Using convenience sampling, 56 patients with permanent enterostomy admitted to Liangxiang Hospital of Fangshan District, Beijing, from January to June 2021 were selected and randomly divided into an observation group ( n=28) and a control group ( n=28). The control group received routine nursing care, while the observation group was provided with narrative nursing based on routine care. Before and after the four-week intervention, the two groups were compared using the Social Impact Scale, Ostomy Adjustment Inventory-20, Stoma Quality of Life to evaluate stigma, stoma adaptation, and quality of life. Results:After the intervention, the stigma scores of both groups decreased compared to before, with the observation group scoring lower than the control group, a difference that was statistically significant ( t=2.260, P<0.05). Additionally, the scores for stoma adaptation and quality of life increased in both groups after the intervention, with the observation group scoring significantly higher than the control group ( t=-2.138, -2.358, all P<0.05) . Conclusions:Narrative nursing can reduce stigma, improve stoma adaptation, and enhance the quality of life in patients with permanent enterostomy, making it a valuable model for enterostomy care.

Objective:To investigate the effect of narrative nursing on stigma, stoma adaptation and quality of life in patients with permanent enterostomy.Methods:Using convenience sampling, 56 patients with permanent enterostomy admitted to Liangxiang Hospital of Fangshan District, Beijing, from January to June 2021 were selected and randomly divided into an observation group ( n=28) and a control group ( n=28). The control group received routine nursing care, while the observation group was provided with narrative nursing based on routine care. Before and after the four-week intervention, the two groups were compared using the Social Impact Scale, Ostomy Adjustment Inventory-20, Stoma Quality of Life to evaluate stigma, stoma adaptation, and quality of life. Results:After the intervention, the stigma scores of both groups decreased compared to before, with the observation group scoring lower than the control group, a difference that was statistically significant ( t=2.260, P<0.05). Additionally, the scores for stoma adaptation and quality of life increased in both groups after the intervention, with the observation group scoring significantly higher than the control group ( t=-2.138, -2.358, all P<0.05) . Conclusions:Narrative nursing can reduce stigma, improve stoma adaptation, and enhance the quality of life in patients with permanent enterostomy, making it a valuable model for enterostomy care.

Objective:To establish a predictive model of acute physiological and chronic health status score (APACHEⅡ) and the British Thoracic Society modified pneumonia score (CURB-65) score on the prognosis of patients with emergency severe pneumonia complicated with acute respiratory distress syndrome (ARDS) and to evaluate the predictive effect.Methods:The relevant clinical data of patients with severe pneumonia combined with ARDS admitted to the Emergency Intensive Care Unit (EICU) of General Hospital of Ningxia Medical University from January 2017 to December 2021 were retrospectively collected, and different logistic regression models were established. On this basis, three prediction models (model 1: APACHE Ⅱ score, model 2: CURB-65 score, Model 3: APACHE Ⅱ score combined with CURB-65 score) were established and the accuracy of the prediction model was evaluated by repeating 50 times of 10-fold cross-validations. The efficacy of the prediction model was evaluated by C statistics, Kendall's tau-a rank correlation coefficient, R2, Brier score, calibration curve, net reclassification index (NRI), composite discriminant improvement index (IDI) and decision curve (DCA).Results:The study eventually included 108 patients, including 81 males and 27 females, with mean age (57.92 ± 16.56) years. Forty-eight patients survived and 60 patients died. The age of the death group was older, and APACHEⅡ score and CURB-65 score of the death group were all greater than those in the survival group, and the differences were statistically significant ( P<0.05). Different logistic regression models showed that the OR value of model 1 was 1.12 (95% CI: 1.06 -1.20), that of model 2 was 2.21 (95% CI: 1.43 - 3.40), and that of model 3 was 1.10 (95% CI: 1.03 - 1.18) and 1.95 (95% CI: 1.24 - 3.07). The average accuracy of model 1, model 2, and model 3 were 0.68±0.14, 0.66±0.11, and 0.72±0.13, respectively. The C statistic, Kendall's Tau-a rank correlation coefficient, R2 and Bril score of model 3 were better than those of model 1 and model 2, and the different models fit well ( P<0.05). The calibration curve results of 500 resampling showed that the calibration degree of model 2 was better than that of model 1 and model 3, and the predictive ability of model 3 was improved compared with model 1, and the IDI was increased by 0.08 ( P<0.01). Compared with model 2, the reclassification ability of cases and the comprehensive discrimination ability of model 3 were improved ( P<0.01). The decision curves of different models showed that the net benefit of model 3 was higher than that of single model 1 and model 2 when the prediction probability was about 25% to 55%, while the benefits of model 1, model 2 and model 3 in other probability prediction intervals were basically equal. Conclusions:Both APACHE Ⅱ score and CURB-65 score have certain predictive power for prognosis of patients with emergency severe pneumonia and ARDS, and their combination has the best prediction effect. CURB-65 score has fewer parameters, and its prognostic benefit in emergency patients with severe pneumonia complicated with ARDS is basically equivalent to APACHE Ⅱ score, which may be more suitable for the prognosis evaluation of emergency patients with severe pneumonia complicated with ARDS.