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.

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.

Animals ; SARS-CoV-2 ; Antibodies, Neutralizing ; Macaca mulatta ; COVID-19/prevention & control* ; Antibodies, Viral ; Vaccines

[This corrects the article DOI: 10.1016/j.apsb.2021.04.013.].

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.

[This corrects the article DOI: 10.1016/j.apsb.2021.04.013.].

Objective:To analyze the clinical adverse events of the first carbon ion therapy system in radiotherapy for cancer patients in China.Methods:A retrospective analysis was conducted on the clinical trial monitoring data of the carbon ion therapy system obtained by the Pharmacovigilance Center of Gansu Province. A descriptive study was conducted on the demographic characteristics, radiotherapy techniques, irradiation site and dose parameters, postoperative follow-up, and adverse event information of 46 tumor patients who received carbon ion therapy and participated in the clinical trial in Wuwei Cancer Hospital, Gansu Province from November 2018 to February 2019. Frequency and percentage were used to describe and analyze the occurrence of adverse events after carbon ion therapy for cancer patients in different groups. All subjects who received radiotherapy were grouped according to the treatment dose and fractionation method.Results:The median age of the 46 patients was 47 years old, and the male to female ratio was 30∶16. There were 15, 5, 8, 9, and 9 patients with head and neck, chest, abdomen, pelvic cavity, and limb spinal tumors, respectively. The total duration of radiotherapy was 2-4 weeks for 10-16 times. There were 246 adverse events in 45 cases, with an incidence of 98%. No severe adverse events occurred. The adverse events definitely related to carbon ion devices accounted for 19.1%, and no severe adverse events related to carbon ion devices occurred. According to the evaluation criteria of common terminology criteria for adverse events (CTCAE), the main adverse events were CTCAE grade 2 and below, with only 1 (2%) head and neck tumor patient (nasopharyngeal malignant tumor) experienced CTCAE grade 3 adverse events after treatment. In addition, 43 patients developed acute adverse reactions, with an incidence of 93%, mainly involving the skin, mucosa, eyes, ears, pharynx and esophagus, upper gastrointestinal tract, lower gastrointestinal tract (including pelvic cavity), lung, genitourinary tract, heart, central nervous system and hematology (white blood cells, platelets and neutrophils), etc. Conclusion:The adverse reactions of patients treated with the first carbon ion therapy system are mainly CTCAE grade 2 and below, and the clinical adverse events are mild and controllable.

Objective:To understand the current situation of nurses in 52 hospitals in China on mastery of knowledge about skin injury in the elderly based on the background of mixed-mode homogenization training.Methods:Using the convenient sampling method, a total of 1 067 nurses from 52 hospitals in China were selected as the research objects in January 2021. A self-designed questionnaire on knowledge of skin injury in the elderly was used to investigate the nurses through the questionnaire star and univariate analysis was used to analyze the influencing factors. A total of 1 067 questionnaires were distributed and 1 067 valid questionnaires were recovered, and the effective recovery rate was 100%.Results:The knowledge scores of pressure injury, incontinence-associated dermatitis, skin tear and xerosis cutis among 1067 nurses were (95.66±7.37) , (95.65±9.15) , (91.37±15.45) and (87.67±15.91) , respectively. The results of univariate analysis showed that hospital grade was the influencing factor of nurses' knowledge score of pressure injury, skin tear and incontinence-associated dermatitis ( P<0.05) , educational background was the influencing factor of nurses' knowledge score of skin tear ( P<0.05) , professional title was the influencing factor of nurses' knowledge scores of pressure injury, incontinence-associated dermatitis and xerosis cutis ( P<0.05) . Conclusions:Hospitals at all levels need to strengthen the theoretical and practical knowledge training for nurses on skin xerosis and skin tear in the elderly, especially for nurses with primary titles and lower education in grassroots hospitals.