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 systematically evaluate the efficacy and safety of proximal gastrectomy (PG) versus total gastrectomy (TG) for the treatment of Siewert type Ⅱ/Ⅲ adenocarcinoma of the esophagogastric junction (AEG). Methods PubMed, The Cochrane Library, Web of Science, EMbase, CNKI, Wanfang, and VIP databases were searched for literature comparing the efficacy and safety of PG and TG for the treatment of Siewert type Ⅱ/Ⅲ AEG. The search period was from database inception to March 2023. Meta-analysis was performed using Review Manager 5.4 software. Results A total of 23 articles were included, including 16 retrospective cohort studies, 5 prospective cohort studies, and 2 randomized controlled trials. The total sample size was 2 826 patients, with 1 389 patients undergoing PG and 1 437 patients undergoing TG. Meta-analysis results showed that compared with TG, PG had less intraoperative blood loss [MD=−19.85, 95%CI (−37.20, −2.51), P=0.02] and shorter postoperative hospital stay [MD=−1.23, 95%CI (−2.38, −0.08), P=0.04]. TG had a greater number of lymph nodes dissected [MD=−6.20, 95%CI (−7.68, −4.71), P<0.001] and a lower incidence of reflux esophagitis [MD=3.02, 95%CI (1.24, 7.34), P=0.01]. There were no statistically significant differences between the two surgical approaches in terms of operative time, postoperative survival rate (1-year, 3-year, 5-year), and postoperative overall complications (P>0.05). Conclusion PG has advantages in terms of intraoperative blood loss and postoperative hospital stay, while TG has advantages in terms of the number of lymph nodes dissected and the incidence of reflux esophagitis. There is no significant difference in long-term survival between the two surgical approaches.

Objective : To analyze the correlation between different laboratory biomarkers and disease activity in ankylosing spondylitis and to compare their specificity and sensitivity in assessing disease activity. Methods : Spearman correlation or Pearson correlation was used to analyze the correlation between disease activity and laboratory biomarkers. Receiver operating characteristic(ROC) was used to compare the sensitivity and specificity of each laboratory biomarker in evaluating disease activity. Results : Hypersensitive C-reactive protein, fibrinogen, D-dimer, erythrocyte sediment rate, C-reactive protein, immuno-inflammatory index(platelet count×neutrophil count/lymphocyte count), fibrinogen/albumin ratio, albumin and pro-albumin were correlated with disease activity. The ratio of fibrinogen to albumin, fibrinogen, erythrocyte sedimentation rate, immuno-inflammatory index, C-reactive protein and hypersensitive C-reactive protein had good values in determining the disease activity. Conclusion Different laboratory biomarkers are correlated with the disease activity of ankylosing spondylitis, and some of them have better discriminating values for the disease activity.

Allergic diseases are immune disorders caused by allergens, leading to inflammation or organ dysfunction. In the past decade, the prevalence of allergic diseases in China has increased dramatically, imposing a heavy economic burden on the health care system and society. In vitro diagnosis of allergic diseases plays a crucial role in the diagnosis, treatment, and prevention of such diseases. This article enumerates the in vitro tests and diagnostic techniques of allergic diseases, gives an advocacy for quality management of IgE-related tests, summarizes the clinical interpretation and relevant research progress, aiming to provide a reference for improving laboratory diagnosis of allergic diseases.

Objective:To explore the value of color Doppler ultrasound scanner in screening peripheral artery atherosclerosis(AS)of undergraduates on campus.Methods:From June 2020 to June 2022,a total of 300 college student volunteers were selected from Sichuan University of Arts and Sciences and Dazhou Vocational and Technical College,and they were divided into peripheral AS group(59 cases)and healthy control group(241 cases)according to the occurrence of peripheral AS.The general data and blood flow parameters of the two groups were compared,and the risk factors of peripheral AS of undergraduates on campus were further analyzed.Results:The differences of the gender,hyperglycemia rate,hypertension rate,smoking history rate,triglycerides(TG),total cholesterol(TC)and high-density lipoprotein cholesterol(HDL-C)between the AS group and the healthy control group were not statistically significant(P>0.05).The differences of age,obesity rate,hyperlipidemia rate and low-density lipoprotein cholesterol(LDL-C)between AS group and healthy control group were statistically significant(t=6.666,x2=4.256,5.292,t=4.515,P<0.05),respectively.The maximum blood flow velocity(Vmax)and minimum blood flow velocity(Vmin)of the AS group were lower than those of the healthy control group,with statistically significant differences(t=-3.753,-3.905,P<0.05).The resistance index(RI)of the AS group was higher than that of the healthy control group,with statistically significant differences(t=3.126,P<0.05).The dependent variable of the AS group was assigned a value of 1,and the healthy control group was assigned a value of 0.The factors with P<0.05 in univariate analysis were used as independent variables.The multiple factor binary logistic analysis showed that age and high LDL-C were risk factors for peripheral AS(OR=1.664,1.192,P<0.05),while high Vmax and high Vmin were protective factors for peripheral AS(OR=-0.102,-0.170,P<0.05),respectively.Conclusion:The higher the LDL-C level,the lower the Vmax and Vmin,are the higher risks of undergraduates who occur peripheral AS.The LDL-C and ultrasonic blood flow parameters(Vmax and Vmin)can be used to assist the diagnosis about whether occurs peripheral AS.

Objective To design a mobile personnel radiation protection equipment for operation in environments with high radiation such as spent fuel reprocessing plants, to achieve simultaneous protection against γ radiation, neutron radiation, and radioactive aerosol, to reduce the internal and external exposure dose of radioactive workers, and to meet the requirement of operation for two hours. Methods The core parts of the mobile personnel radiation protection equipment included a shielding chamber and a respiratory maintenance system. An automated chassis was used for the movement and lifting of the shielding chamber. MCNP software was used to simulate and calculate the protective effects of shielding chamber made of different materials and material thicknesses. Experimental verification of the shielding chamber design was conducted. Mathematical models were established to describe the variations in the content of various gases in the chamber with personnel operation time. A respiratory maintenance system, a harmful gas absorption device, and an automated mobile chassis were designed. Results The shielding chamber made of polyethylene with a thickness of 80 mm achieved an 80% neutron shielding rate. The respiratory maintenance system could support workers for 2 hours of operation inside the equipment. The mobile chassis allowed operation of the equipment with one person. Conclusion This mobile personnel radiation protection equipment can solve the problem in simultaneous protection against γ radiation, neutron radiation, and radioactive aerosol. The equipment can provide radiation protection for radioactive workers, reduce exposure dose, and reduce personnel burden. This system provides technical means for the operation and maintenance of equipment in high-radiation sites such as spent fuel reprocessing plants.

Objective To investigate the safety and feasibility of peripheral vascular intervention via the ipsilateral transulnar access(TUA)due to failure of transradial access(TRA)puncture.Methods The clinical data of 2546 peripheral vascular interventions via TRA,which were performed at authors'hospital between January 2019 and December 2021,were retrospectively analyzed.Among the 2546 interventions,TRA puncture failed in 37 procedures,and in 27 of these patients the ipsilateral TUA puncture had to be adopted.The puncture success rate,surgical success rate and puncture approach-related complications of TUA of the 27 patients receiving ipsilateral TUA puncture were analyzed.Results The success rate of ipsilateral TUA puncture after TRA puncture failed was 96.3％(26/27),and in one patient transfemoral access(TFA)puncture had to be substituted because of the ulnar artery spasm.The total success rate of interventional procedures was 96.3％(26/27).No serious complications occurred,and the incidence of minor complications was 19.2％(5/26).Conclusion Preliminary results indicate that for the experienced TRA operators,using ipsilateral TUA puncture due to failure of TRA puncture is a safe and feasible strategy choice.

Objective:To investigate the value of implantable cardiac monitor (ICM) in the diagnosis and treatment of patients over 60 years old with unexplained syncope.Methods:This was a multi-center, prospective cohort study. Between June 2018 and April 2021, patients over the age of 60 with unexplained syncope at Beijing Hospital, Fuwai Hospital, Beijing Anzhen Hospital and Puren Hospital were enrolled. Patients were divided into 2 groups based on their decision to receive ICM implantation (implantation group and conventional follow-up group). The endpoint was the recurrence of syncope and cardiogenic syncope as determined by positive cardiac arrhythmia events recorded at the ICM or diagnosed during routine follow-up. Kaplan‐Meier survival analysis was used to compare the differences of cumulative diagnostic rate between the 2 groups. A multivariate Cox regression analysis was performed to determine independent predictors of diagnosis of cardiogenic syncope in patients with unexplained syncope.Results:A total of 198 patients with unexplained syncope, aged (72.9±8.25) years, were followed for 558.0 (296.0,877.0) d, including 98 males (49.5%). There were 100 (50.5%) patients in the implantation group and 98 (49.5%) in the conventional follow-up group. Compared with conventional follow-up group, patients in the implantation group were older, more likely to have comorbidities, had a higher proportion of first degree atrioventricular block indicated by baseline electrocardiogram, and had a lower body mass index (all P<0.05). During the follow-up period, positive cardiac arrhythmia events were recorded in 58 (58.0%) patients in the ICM group. The diagnosis rate (42.0% (42/100) vs. 4.1% (4/98), P<0.001) and the intervention rate (37.0% (37/100) vs. 2.0% (2/98), P<0.001) of cardiogenic syncope in the implantation group were higher than those in the conventional follow-up group (all P<0.001). Kaplan-Meier survival analysis showed that the cumulative diagnostic rate of cardiogenic syncope was significantly higher in the implantation group than in the traditional follow-up group ( HR=11.66, 95% CI 6.49-20.98, log-rank P<0.001). Multivariate analysis indicated that ICM implantation, previous atrial fibrillation, diabetes mellitus or first degree atrioventricular block in baseline electrocardiogram were independent predictors for cardiogenic syncope (all P<0.05). Conclusions:ICM implantation improves the diagnosis and intervention rates in patients with unexplained syncope, and increases diagnostic efficiency in patients with unexplained syncope.

Objective To explore the gene expression profile in paraspinal muscle degeneration(PMD)and identify key ferroptosis genes.Methods RNA sequencing was performed on paraspinal muscle tissue of 3 normal and 3 PMD patients respectively to obtain differentially expressed genes.Through protein-protein interaction(PPI)and gene functional enrichment analysis,the intersection of ferroptosis genes was identified to identify key hub genes associated with ferroptosis.The diagnostic value for PMD disease was analyzed by receiver operating characteristic(ROC)curves.Results A total of 292 differentially expressed genes were identified in PMD.Among them,125 genes were significantly downregulated and 167 genes were significantly upregulated.Bioinformatics analysis revealed that 14 differentially expressed genes were associated with ferroptosis.Among them,ferroptosis genes MUC1,ATF3 and CDKN1A were key hub genes with good specificity and sensitivity for diagnosing PMD.Functional enrichment analysis revealed that they may mediate the occurrence and progression of PMD by regulating cell apoptosis,ferroptosis and skeletal muscle tissue development and differentiation.Conclusion Ferroptosis genes MUC1,ATF3 and CDKN1A can serve as biomarkers for diagnosing PMD,providing theoretical basis for decoding the pathological mechanism of PMD and developing new drugs.