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.

The gut microbiota is closely related to human health, and various gut microbiota health indices have been developed to assist in evaluating the health of the gut microbiota and even the overall health of the human body. Diets are one of the main factors that regulate the gut microbiota, while there is still no good method for evaluating the regulatory effects of dietary factors. To assess the regulatory effects of dietary factors on the gut microbiota of overweight individuals, we conducted an in vitro fermentation experiment based on 17 dietary factors, and developed an evaluation method for the regulatory effects of dietary factors based on the health index with principal component analysis (hiPCA). The results showed that most dietary factors had positive regulatory effects on the gut microbiota of overweight individuals. Galactooligosaccharides (GOS) and puerarin were the most significant dietary factors in regulating the gut microbiota of overweight individuals. The analysis of the contribution of species to the hiPCA indicated that GOS and puerarin might inhibit the activities of bacteria associated with overweight by regulating Eubacterium dolichum, Lactobacillus salivarius, Clostridium clostridioforme, Clostridium citroniae, and Lachnospiraceae bacterium 9_1_43BFAA. In addition, GOS may further enhance the inhibition of these activities by regulating Lachnospiraceae bacterium 6_1_63FAA, thereby reducing the gut health risks in overweight individuals. In summary, this study evaluated the health effects of dietary factors based on the hiPCA and specifically analyzed the role of different dietary factors in regulating the gut microbiota of overweight individuals. This provides new ideas and methods for improving gut microbiota health and has potential applications in the field of precision nutrition.
Humans ; Gastrointestinal Microbiome/physiology* ; Isoflavones/pharmacology* ; Overweight/microbiology* ; Diet ; Fermentation ; Oligosaccharides/pharmacology* ; Principal Component Analysis

Objective To investigate the separation efficiency of three physical separation methods for gaseous ¹⁴C, namely membrane separation, adsorption separation, and low-temperature separation, to screen for the optimal separation method, and to provide a reference for the separation and enrichment of ¹⁴CO₂ in online monitoring of ¹⁴C. Methods The experimental plan was designed, and three devices were constructed for separation and purification experiments. The purity, recovery rate, and separation time of CO₂ separated by the three methods were analyzed. Results All the three methods achieved the separation of CO₂. Under certain conditions, 20 mL of sample gas was obtained. The separation time of membrane separation method was 0.5 hour, CO₂ gas with a sample purity of 0.0486%-0.0488%VOL was obtained, and the recovery rate was only 2.5%−12.7%. The separation time of MOF material adsorption separation method was 24−30 hours, CO₂ gas with a sample purity of 20.2%−47.5%VOL was obtained, and the recovery rate was 57.3%−63.2%. The separation time of low-temperature separation method was 3 hours, CO₂ gas with a sample purity of 96.0%−99.8%VOL was obtained, and the recovery rate was 81.5%−92.5%. Conclusion The purity and recovery rate of CO₂ with low-temperature separation method were higher compared to membrane separation method and MOF material adsorption separation method. The separation time of low-temperature separation method was moderate. The low-temperature separation method can provide a reference for the enrichment technology of ¹⁴C in the rapid measurement of gaseous ¹⁴C effluent.

Objective: To understand the relationship between serum 25 hydroxyvitamin D [25(OH)D] levels and social emotional functions in children with autism spectrum disorder (ASD), in order to provide the reference for comprehensive interventions in ASD children. Methods: From January to June 2024, 124 ASD children aged 1-3 who received rehabilitation training at designated rehabilitation institutions in Nantong City, China were selected as the case group, while 124 healthy gender and age matched children who underwent health examinations at the same time were selected as the control group. The study used liquid chromatography-mass spectrometry to measure serum 25(OH)D levels in both groups of children. The Chinese Infant-Toddler Social and Emotional Assessment (CITSEA) was used to evaluate the emotional and socialization functioning of children with ASD, and to explore the relationship between serum 25(OH)D levels and their emotional and social functioning. Results: The serum 25(OH)D levels were lower in the case group [(59.22±19.96)nmol/L] compared to the control group [(85.50±21.59)nmol/L], and the rate of 25(OH)D deficiency or insufficiency (21.77%) was higher than that of the control group (7.26%), with statistically significant differences ( t/χ 2=-7.75, 8.91, P <0.01). The CITSEA evaluation results showed that the scores of the explicit behavior domain, implicit behavior domain, dysregulation domain, and ability domain in children with ASD were (63.37±10.44, 56.29± 9.36 , 57.04±10.65, 38.92±17.91) points, and the abnormal detection rates were 50.81%, 35.48%, 41.13%, and 45.16%, respectively. Among them, the abnormal detection rates of the explicit behavior domain and ability domain were higher in boys ( 57.14 %, 51.02%) compared to girls (34.62%, 23.08%), and the differences were statistically significant ( χ 2=4.18, 6.48, P < 0.05 ). The abnormal detection rates of explicit behavioral domains and dysregulated domains in ASD children with insufficient or deficient serum 25(OH)D (77.78%, 59.26%) were higher than those in the normal serum 25(OH)D group (37.11%, 18.56%), and the differences were statistically significant ( χ 2=14.06, 17.58, P <0.01). Conclusion The serum 25(OH)D levels in children with ASD are significantly lower compared to levels in healthy children, and developmental abnormalities in social emotional functioning are common concurrent problems.

Objective Nowadays, radioactive xenon isotopes, including ^131mXe, ^133mXe, ¹³³Xe, and ¹³⁵Xe, are primarily released into the atmosphere through various reactor operation and major accidents of reactors. To improve the online monitoring capability of xenon in nuclear facilities and their gaseous effluents, a highly sensitive online xenon monitoring system was developed to monitor, warn, and alarm the activity concentration of radioactive xenon. Methods The online monitoring system for radioactive xenon gas in nuclear facilities was established using xenon membrane separation and concentration, xenon high-efficiency selective adsorption, and low-background gamma-ray spectrometry analysis methods. Results Under the operation mode of one-hour sampling and one-hour measuring, the minimum detectable activity concentration of the radioactive xenon online monitoring system for ¹³³Xe was approximately (1.43 ± 0.03) Bq/m³. Conclusion This system can be effectively used for online monitoring of xenon activity concentration in nuclear facilities such as nuclear power plants and isotope production reactors, as well as in gaseous effluents. It helps improve the safety level of personnel, the environment, and nuclear facilities.

Objective:To investigate the relationship between preoperative plasma fibrin degradation products (FDP) level and clinicopathological features of patients with completely resected non-small cell lung cancer (NSCLC).Methods:A retrospective case series study was performed. The clinical data of 521 patients who were pathologically diagnosed with NSCLC in Beijing Friendship Hospital Affiliated to Capital Medical University from January 2016 to December 2017 were retrospectively analyzed. Among 521 cases, 406 cases were postoperatively pathologically confirmed as non-lymph node and non-distant metastasis (non-metastasis group) and 115 cases were postoperatively pathologically confirmed as lymph node or distant metastasis (metastasis group). The preoperative FDP level and clinicopathological characteristics as well as the clinicopathological characteristics of NSCLC patients with different FDP levels were compared between the two groups. The correlation between preoperative FDP level and TNM staging was analyzed by using Spearman correlation analysis.Results:Among 521 NSCLC patients, 266 cases were female, 255 cases were male; the age [ M( Q1, Q3)] was 59 years (54 years, 65 years); 441 cases were adenocarcinoma and 70 cases were squamous cell carcinoma. The preoperative median FDP level was 2.78 mg/L (2.35 mg/L, 3.13 mg/L) and 2.99 mg/L (2.56 mg/L, 4.16 mg/L), respectively of NSCLC patients in non-metastasis group and metastasis group, and the difference was statistically significant ( Z = 6.13, P < 0.001). The preoperative FDP level was 2.56 mg/L (2.35 mg/L, 3.20 mg/L) and 2.99 mg/L (2.56 mg/L, 3.20 mg/L), respectively in the early-stage NSCLC (stage Ⅰ-Ⅱ) and advanced NSCLC (stage Ⅲ-Ⅳ) patients, and the difference was statistically significant ( Z = 8.42, P < 0.001). Spearman correlation analysis showed that preoperative FDP level was positively correlated with tumor diameter ( r = 0.287, P < 0.001). There was a positive correlation between preoperative FDP level and the number of metastatic lymph nodes in 115 patients with lymph node metastasis ( r = 0.679, P < 0.001). According to the preoperative median FDP (2.78 mg/L), all patients were divided into FDP ≤2.78 mg/L group and FDP >2.78 mg/L, and there were statistically significant differences in age, metastasis, tumor staging, tumor diameter, the metastatic number of lymph node and histological types of NSCLC patients in both groups (all P < 0.05). Conclusions:The increase of preoperative plasma FDP level may be related to the tumor metastasis and clinical stage of NSCLC patients

Objective To calculate the absorbed dose of ⁹⁰Y TheraSphere in the pancreas and the surrounding sensitive organs after the administration in the treatment of pancreatic cancer through the establishment of an individual voxel model, and to provide technical support for the clinical application of ⁹⁰Y TheraSphere in the treatment of pancreatic cancer. Methods An individualized voxel model was constructed in Geant4 software based on the CT images of the patient. 12 monoenergetic electron specific absorption fractions (SAFs) in the range of 0.01 to 1 MeV were calculated and validated against the ICRP data. The model and method were used to calculate the absorbed doses in the target organs under uniform and nonuniform distribution of ⁹⁰Y microspheres in the pancreas. Results The relative errors between the SAF values calculated based on the individualized voxel model and the ICRP data after mass calibration were less than 3.89%. When ⁹⁰Y was uniformly distributed in the pancreas, the absorbed dose in the pancreas was 4.69 × 10⁻⁷ Gy/Bq; the absorbed doses in the liver, kidneys, and spleen were 6.15 × 10⁻¹², 6 × 10⁻¹², and 1.65 × 10⁻¹¹ Gy/Bq, respectively. When ⁹⁰Y was distributed within the tumor, the absorbed dose in the tumor was 6.69 × 10⁻⁶ Gy/Bq and the absorbed dose in normal pancreas was 5.72 × 10⁻⁸ Gy/Bq. The fitted relationship between tumor volume V and administered activity A at the prescribed dose of 120 Gy was quadratic, with relatively low activity required for concentrated administration in the center of the tumor. Conclusion The Monte Carlo dose calculation method based on individual voxel model accurately predicted the absorbed doses in the surrounding sensitive organs (liver, kidneys, and spleen) when ⁹⁰Y TheraSphere was used to treat pancreatic cancer. These results and the analysis of the factors affecting the drug delivery activity will provide data support for the clinical research of ⁹⁰Y TheraSphere in pancreatic cancer.

Objective To address the radioactive contamination of wounds caused by transuranic nuclides, wound radiation imaging based on coded aperture imaging technology was investigated. Methods By simulating multiple source terms using Monte Carlo method, the differences in imaging performance between two image reconstruction algorithms under near-field conditions were compared. The effects of detector pixels and detection plane pixels on image resolution were investigated. Results The imaging system was simulated based on the designed dimensions. The simulated imaging field of view was 89.4 mm × 89.4 mm and the simulated angular resolution was 1.98°. Based on the comparison of the average width at half height of the reconstructed point sources under different conditions, it was found that increasing the number of pixels in the detector and detection plane optimized the angular resolution but significantly prolonged the Monte Carlo simulation time. Conclusion According to the simulation results, the parameters of the imaging system can be used to effectively image radioactive contamination. Our results provide methodological support for the measurement of wound contamination caused by transuranic nuclides, and lay the foundation for the development of wound contamination imaging detection systems in the future.