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:The healing of mandibular fractures after rigid internal fixation is influenced by many factors,including the material of the bone plate,fracture site,and bone density of the patient.However,there are relatively few studies on the relationship between the stability of mandibular fracture fixation in different bone qualities and they lack a scientific basis. OBJECTIVE:To analyze the stability of fixation of mandibular fractures with different bone qualities with bioabsorbable plates and miniature titanium plates by finite element analysis. METHODS:Three-dimensional finite element models of class Ⅰ-Ⅳ mandibular fractures were developed according to the bone quality classification method proposed by ZARB and LEKHOLM.The fractures at the median mandibular symphysis,mandibular body,and mandibular angle were simulated under different bone qualities.Bioabsorbable bone grafting plates(or miniature titanium plates)were placed at each fracture site for fixation and to simulate the state of healthy side occlusion.Finite element analysis on the model was used to analyze the relative displacement of the fracture segments and the stress distribution of fixators. RESULTS AND CONCLUSION:(1)The maximum stress value during fixation with titanium plates increased gradually with the increase of bone class,in which the maximum stress value of titanium plates was the highest in the mandibular body class Ⅳ bone group,which was 382.74 MPa and 96.11 MPa in the miniature titanium plate and bioabsorbable plate groups.The results for mandibles of the same bone type showed that the maximum stress value of titanium plates was much higher than that of bioabsorbable plates.(2)For fractures of the median middle of the mandible in types Ⅲ and Ⅳ,the displacement of the fracture breaks at the fixation site was large and exceeded the limiting value of bone healing(>150 μm),regardless of whether the fixation was performed with a miniature titanium plate or a bioabsorbable plate.For type Ⅳ mandibular fractures,the fracture end displacement in the bioabsorbable plate group exceeded the healing limit value,and the fracture end displacement in the miniature titanium plate group was close to the healing limit value.Under the same bone quality and fracture site,the fracture displacement of the miniature titanium plate group was smaller than that of the bioabsorbable plate group.(3)The results showed that the strength and stiffness of the two internal fixations were sufficient to support bone healing of fractures at three sites of the types Ⅰ-Ⅳ mandible,and the fixation stability of the bioabsorbable plate was almost the same as that of the miniature titanium plate,which could provide early healing conditions for fractures.Mandibular bone type should be taken into consideration in the treatment of mandibular fracture.The higher the mandibular bone grade,the worse the stability of fracture fixation,and the more likely the complications such as poor bone healing will occur after surgery.

BACKGROUND:Increasing evidence supports the association between different exercise intensities and the risk of osteoarthritis,but this may be affected by confounding and reverse causality,and the conclusions have not been unified. OBJECTIVE:To explore the causal association between different exercise intensities and osteoarthritis using Mendelian randomization method. METHODS:Data from genome-wide association studies associated with different exercise intensities were selected,and instrumental variables were screened with a threshold of P＜5×10-8.Causal associations between exposure and risk of outcome were assessed using five analysis methods of Mendelian randomization with inverse variance weighting as the primary analysis method.Selected instrumental variables were used to assess causal associations between different exercise intensities and osteoarthritis,and sensitivity analyses with inverse Mendelian randomization were performed. RESULTS AND CONCLUSION:In the analysis results of the inverse variance weighting method,low-intensity exercise showed a significant protective effect on knee osteoarthritis[odds ratio(OR)=0.14,95%confidence interval(CI):0.06-0.32,P＜0.001],while sedentary behavior without exercise intensity,such as watching TV,was confirmed to be a risk factor for knee osteoarthritis and hip osteoarthritis(OR=2.24,95%CI:1.74-2.88,P＜0.001;OR=1.34,95%CI:1.01-1.78,P=0.04).Through the reverse Mendelian randomization analysis of osteoarthritis to different exercise intensities,it was found that osteoarthritis was negatively correlated with low-intensity exercise and positively correlated with watching TV.The analysis results show that there is a two-way causal relationship between different exercise intensity and osteoarthritis risk.

Objective: To analyze the influencing factors for anterior tibial artery atherosclerosis among patients with hyperuricemia, so as to provide insights into the prevention of anterior tibial artery atherosclerosis. Methods: Patients aged 18 years and older with hyperuricemia in Dazhou Integrated TCM & Western Medicine Hospital were enrolled as research subjects from 2020 to 2023. Demographic information and blood biochemistry indicators were collected through electronic medical records. Anterior tibial artery atherosclerosis was evaluated by color Doppler ultrasound. Factors affecting anterior tibial artery atherosclerosis among patients with hyperuricemia were analyzed by a multivariable logistic regression model. Results: A total of 1 105 patients with hyperuricemia were surveyed, including 862 males (78.01%) and 243 females (21.99%). There were 918 cases (83.08%) at the ages of 60 years and older, and 457 cases (41.36%) with a course of disease at 10 years and longer. The median level of blood uric acid was 480.79 (interquartile range, 98.28) μmol/L. There were 314 cases (28.42%) with anterior tibial artery atherosclerosis. Multivariable logistic regression analysis showed that body mass index (≥24.0 kg/m2, OR=1.597, 95%CI: 1.185-2.151), long-term smoking history (yes, OR=1.709, 95%CI: 1.153-2.534), diabetes mellitus (yes, OR=1.517, 95%CI: 1.162-1.981), serum uric acid (≥480.79 μmol/L, OR=1.667, 95%CI: 1.131-2.457), serum creatinine (≥97 μmol/L, OR=1.685, 95%CI: 1.155-2.460), fasting blood glucose (≥6.1 mmol/L, OR=1.528, 95%CI: 1.106-2.112), fibrinogen (>4 g/L, OR=1.589, 95%CI: 1.091-2.315) and triglycerides (≥1.7 mmol/L, OR=1.879, 95%CI: 1.226-2.881) were influencing factors for anterior tibial artery atherosclerosis among patients with hyperuricemia. Conclusion Anterior tibial artery atherosclerosis among patients with hyperuricemia is associated with long-term smoking, diabetes mellitus, serum uric acid, serum creatinine, fasting blood glucose, fibrinogen and triglycerides high level.

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 systematically evaluate the short-term efficacy and safety of McKeown and Sweet methods in the treatment of esophageal cancer. Methods PubMed, EMbase, The Cochrane Library, Web of Science, Wanfang, VIP, CNKI and Chinese Biomedical Literature database were searched for literature on the short-term efficacy and safety of McKeown and Sweet methods in the treatment of esophageal cancer published from the establishment to May 2023. Newcastle-Ottawa Scale was used to evaluate the quality of researches, and meta-analysis was performed using RevMan5.4. Results A total of 9 articles were included, involving 3687 patients including 1019 in the McKeown group and 2668 in the Sweet group. NOS score was 8-9 points. There were no statistical differences in the age, sex or American Joint Committee on Cancer stage between the two groups (P>0.05). Patients in the McKeown group had longer operative time and hospital stay, more intraoperative blood loss, and higher Eastern Cooperative Oncology Group scores than those in the Sweet group (P<0.05). However, the McKeown operation could remove more lymph nodes (P=0.001). In terms of safety, the incidences of pulmonary complications [OR=2.20, 95%CI (1.40, 3.46), P=0.001] and postoperative anastomotic leakage [OR=2.06, 95%CI (1.45, 2.92), P=0.001] were higher in the McKeown group than those in the Sweet group. In addition, there were no statistical differences between the two groups in the Karnofsky score, cardiac complications, vocal cord injury or paralysis, chylous leakage, or gastric emptying (P>0.05). Conclusion Compared with McKeown, Sweet method has advantages in operation time, intraoperative blood loss and hospital stay, and has lower incidence of postoperative pulmonary complications and anastomotic leakage. However, McKeown has more lymph node dissection.

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 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.

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.