OBJECTIVE: To retrospectively analyze the genetic differences of thalassemia gene mutations among ethnic groups in Hechi, Guangxi. METHODS: A total of 15 595 whole blood samples of residents of Hechi from January 1, 2020 to June 30, 2023 were screened for thalassemia, and the Gap-PCR method and RDB-PCR method were used to perform genetic testing on the positive samples. Gene sequencing was performed on the samples with positive screening results but negative genotyping results. RESULTS: Among the 15 595 samples, 10 501 cases were screened positively, and 8 506 cases were thalassemia gene carriers among the positive samples, with a positive coincidence rate of 81.00%. Among them, there were 5 374 cases of α-thalassemia, 2 531 cases of β-thalassemia, and 601 cases of α+β compound thalassemia. A total of 13 mutant types were detected in α-thalassemia, including --^SEA (48.57%), -α ^3.7 (31.31%), α ^CS (8.57%) and -α ^4.2 (8.07%). A total of 17 mutant types were detected in β-thalassemia, mainly CD17 (48.27%) and CD41-42 (41.24%). The thalassemia gene carriers were mainly from the Zhuang (6 106 cases), Han (969 cases), Yao (793 cases), Mulam (275 cases), and Maonan (228 cases) ethnic groups. The comparison of constituent ratios within the above five ethnic groups demonstrated that there were differences in the proportions of -- ^SEA, -α ^3.7, α ^CS , and -α ^4.2 among the Zhuang, Han, and Yao ethnic groups (P < 0.005). The proportion of α ^CS in the Mulam ethnic group was not significantly different from -α ^3.7 and -α ^4.2. The proportions of -- ^SEA, -α^3.7, and α ^CS in the Maonan ethnic group were not significantly different. There were no significant differences in the proportion of CD17 and CD41-42 among the Han, Yao, Mulam and Maonan ethnic groups. The proportion of --^SEA was the highest in the Mulam ethnic group (56.68%), which was statistically different from 35.92% in the Maonan ethnic group. The proportion of -α ^3.7 was the highest in the Zhuang ethnic group (33.25%), and the difference was statistically significant compared to the Mulam ethnic group which had the lowest proportion (18.72%). The proportion of α ^CS was the highest in the Maonan ethnic group (27.46%), and the differences were statistically significant compared with other ethnic groups. The proportions of CD17 in the Zhuang and Maonan ethnic groups (50.79%, 55.68%) were higher than those in the Han (39.12%), Yao (39.63%) and Mulam (30.00%), and the differences were statistically significant. There was no significant difference in the proportion of CD41-42 among the above five ethnic groups. CONCLUSIONS The mutation type and distribution differences of genes causing thalassemia among main ethnic groups in the minority inhabited areas of Hechi, Guangxi, show the characteristics of ethnic differentiation. The result is helpful to develop a special prevention and control plan for thalassemia in line with the population distribution characteristics, and provide reference for revealing the genetic background and geographical distribution of thalassemia in this area.
Humans ; China ; beta-Thalassemia/genetics* ; Ethnicity/genetics* ; alpha-Thalassemia/genetics* ; Mutation ; Genotype ; Retrospective Studies ; Asian People/genetics* ; Thalassemia/genetics* ; Male

Objective:To compare the correlation and consistency of central corneal thickness (CCT) measured by four different instruments, specular microscope SP-1P, IOLMaster 700, Pentacam HR and RTVue XR-OCT.Methods:A diagnostic test study was performed.A total of 50 right eyes of 50 consecutive outpatients who planned to undergo corneal refractive surgery at Hanyang Aier Eye Hospital from January to May 2022 were included.CCT was measured with the specular microscope SP-1P, IOLMaster 700, Pentacam HR and RTVue XR-OCT, respectively.The differences of CCT measurements by the four instruments were compared.The correlation and consistency between the CCT values was analyzed by Pearson linear analysis and Bland-Altman test, respectively.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Hanyang Aier Eye Hospital (No.HYEYE20221229JM).Written informed consent was obtained from each subject.Results:The mean CCT values measured by SP-1P, IOLMaster 700, Pentacam HR and RTVue XR-OCT were (522.68±30.08), (544.06±32.85), (541.00±31.75) and (528.86±31.60)μm, respectively, with a statistically significant overall difference ( F=5.09, P=0.002).CCT measurements obtained with SP-1P were lower than those obtained with IOLMaster 700 and Pentacam HR, while the IOLMaster 700 measurements were higher than those of RTVue XR-OCT, showing statistically significant differences (all at P<0.05).Pearson correlation analysis revealed significant positive correlations of CCT measurements between SP-1P and IOLMaster 700, SP-1P and Pentacam HR, SP-1P and RTVue XR-OCT, IOLMaster 700 and Pentacam HR, IOLMaster 700 and RTVue XR-OCT, Pentacam HR and RTVue XR-OCT ( r=0.988, 0.980, 0.988, 0.981, 0.982, 0.973; all at P<0.01).Bland-Altman consistency analysis showed that the 95% limits of agreement (95% LoA) for CCT measurements between SP-1P and RTVue XR-OCT, IOLMaster 700 and Pentacam HR were -16.46-6.14 and -10.56-14.48 μm, respectively, with 3(6%) and 2(4%) data points outside the 95% LoA, respectively.The mean difference lines for the CCT measurements were close to 0, indicating good consistency and clinically acceptable differences without statistical significance. Conclusions:CCT values measured with specular microscope SP-1P and RTVue XR-OCT, as well as those measured with IOLMaster and Pentacam HR, are relatively close in patients with low to moderate myopia, show good consistency and can therefore be considered interchangeable.

Objective:To explore the association between serum 25-hydroxyvitamin D[25(OH)D]and handgrip strength in middle-aged and elderly people in 5 cities of Western China.Methods:Based on the data of a cross-sectional survey conducted in the 5 cities of Western China from February to July 2023,the relevant demographic characteristics of people were collected by questionnaire,handgrip strength was collected by physical examination,and serum 25(OH)D was detected by HPLC-MS/MS.The association between the serum 25(OH)D and handgrip strength was analyzed using Logistic regres-sion and Chi-square test for between-group comparisons models.Results:The prevalence of 25(OH)D deficiency and insufficiency among the middle-aged and elderly people in the 5 cities of Western China was 52.9％and 34.5％,respectively.The people who were older,female,and sampled in winter had lower serum 25(OH)D levels(P＜0.05).The prevalence of loss of handgrip strength among the mid-dle-aged and elderly people was 25.3％.The prevalence of handgrip strength loss was higher in the aged 65-80 participants with 25(OH)D deficiency(45.0％)than in those with 25(OH)D insufficiency(32.6％)and 25(OH)D sufficiency(20.6％).The highest prevalence of loss of handgrip strength was found in the aged 75-80 participants with 25(OH)D deficiency(62.1％),followed by the 25(OH)D insufficient group(11.1％,P＜0.05).The study found that middle-aged and elderly people with 25(OH)D deficiency had a 1.4-fold increased risk of handgrip strength loss compared with those with 25(OH)D sufficiency(OR=2.403,95％CI:1.202-4.804,P=0.013).No significant association was found between 25(OH)D insufficiency and handgrip strength status in the middle-aged and elderly people.For every 5 μg/L increase in total serum 25(OH)D,the risk of handgrip strength loss reduced by 13.1％(OR=0.869,95％CI:0.768-0.982,P=0.025).For every 5 μg/L increase in serum 25(OH)D2,the risk of handgrip strength loss reduced by 24.1％(OR=0.759,95％CI:0.582-0.990,P=0.042).No significant association was found between serum 25(OH)D3 levels and the risk of hand-grip strength loss.The risk of handgrip strength loss in middle-aged and elderly people was reduced by 25.2％for each incremental increase in the total serum 25(OH)D levels(deficient,insufficient and suf-ficient)(OR=0.748,95％CI:0.598-0.936,P=0.011).The risk of handgrip loss was reduced by 40.0％for each incremental increase in serum 25(OH)D levels in the aged 65-80 and aged 65-69 participants,and by 80.0％for each incremental increase in 25(OH)D levels in the aged 75-80 parti-cipants.Conclusion:Serum total 25(OH)D and 25(OH)D2 levels are associated with handgrip strength status in middle-aged and elderly people in the 5 cities of Western China.

Aim To investigate the dynamic time-course changes in neuronal cytoskeleton after acute ischemia and reperfusion in rats. Methods Reperfusion was performedin rats by blocking the middle cerebralarteryfor 90 min, then therats wereobserved and collected at different time points. The brain damage wasobserved by Nissl staining,and neurobehavioural function was evaluated with neurological deficit score and forelimb placement test. The cellular changes in the alternations of cytoskeletal elements including microtubule associated protein 2 (MAP2) and neurofilament heavy chain (NF-H) were observed by immunohistochemistry staining and Western blot. Impaired axons, dendrites and cytoskeletal alternations were detected by electron microscope. Results Brain damage and neurobehavioural function were gradually aggravated with the prolongation of reperfusion. Brain damage appeared earlier and more severe in striatum than in cortex. Moreover, decreased MAP2-related and increased NF-H-related immunoreactive intensities were found in the ischemic areas. Impaired cytoskeletal arrangement and reduced dense were indicated. Damaged cytoskeletal components such as microtubules and neurofilament arrangement, decreased axonal filament density, and swelled dendrites were observed after cerebral ischemia reperfusion by ultrastructural observations. Conclusions Different brain regions have diverse tolerance to ischemia-reperfusion injury. Major elements of neuronal cytoskeleton show dynamic responses to ischemia and reperfusion, which may further contribute to brain damage and neurological impairment following MCAO and reperfusion.

Objective To evaluate the process risk of the implementation of prevention and control measures for surgical site infection(SSI)after colorectal surgery,and explore the application effect of failure mode and effects analysis(FMEA)based on action priority.Methods FMEA based on action priority was adopted to evaluate the whole process of the implementation of prevention and control measures for SSI after colorectal surgery.Prioritiza-tion ranking was conducted according to whether optimized measures were taken.Standard-reaching rate of comp-liance to SSI prevention and control measures as well as SSI incidence before and after the implementation of FMEA were compared.Results After evaluation,there were 7 high-priority and 22 medium-priority prevention and control measures for SSI.The control of medium-priority measures was strengthened,with a focus on developing further preventive and detectable measures for high-priority measures.The re-evaluation results after improvement showed that 7 high-priority measures have been downgraded to medium priority,and 16 medium-priority measures have been downgraded to low priority.Standard-reaching rate of compliance to SSI prevention and control measures in-creased from 77.15％(2 566/3 326)to 92.47％(3 096/3 348),and SSI incidence decreased from 6.04％(58/960)to 2.54％(60/2 364).Conclusion Application of FMEA based on action priority can effectively evaluate the risk of prevention and control process of SSI after colorectal surgery,and adopting preventive risk control measures accord-ing to the current situation can reduce the incidence of SSI after colorectal surgery.

Objective:To establish a prediction model for symptomatic radiation pneumonitis (SRP) after radiotherapy for thoracic cancer based on a longitudinal cohort and dose interval variations.Methods:Clinical data of 587 patients who received thoracic radiotherapy in Department of Radiotherapy of Yunnan Cancer Hospital from July 2022 to June 2023 were retrospectively analyzed. The National Cancer Institute common terminology criteria for adverse events (CTCAE) version 5.0 was used to grade radiation pneumonitis, and clinical factors, traditional independent dosimetric characteristics and dose interval variation characteristics were collected. Features used to predict the occurrence of SRP were screened using genetic algorithms and analyzed the correlation between the selected features and SRP occurrence. Predictive models for SRP occurrence were established using the selected features and evaluated, and the optimal predictive model was visualized using a column chart.Results:The incidence of SRP was 35.94%. Five clinical factors, seven independent dosimetric features and six dose interval variation features were screened out by genetic algorithms to effectively predict the occurrence of SRP. The area under ROC curve (AUC) of clinical factors combined with traditional independent dosimetric factors and dose interval variation factors was 76%. The AUC of clinical factors combined with traditional independent dosimetric factors and that of clinical factors combined with dose interval variation factors was 69% and 67%, respectively. The addition of the characteristics of dose interval variation factors significantly improved the effectiveness of the prediction model.Conclusions:The supplement of the characteristics of dose interval variation factors can significantly improve the performance of the SRP prediction model for thoracic tumors after radiotherapy. The SRP prediction model based on dose interval variations can effectively predict the occurrence of SRP.

Extracting extracts of secondary metabolites from the karst cave fungus Metarhizium anisopliae NHC-M3-2 from the Yilingyan Scenic Area in Guangxi. Ten compounds were isolated and purified from fungal secondary metabolites using thin-layer chromatography and high-performance liquid chromatography. 7-Hydroxy-3-hydroxypropyl-5,6-dimethylisochrome-1-one (1) and 7-hydroxy-3,5,6-trimethyl-isochromen-1-one (2) were new isocoumarin compounds, N-acetyl phenylalanine (3), chaetosumin J (4), 2-one-13-hydroxy-3,5,8,7(11)-eudesmatetraen-12,8-olide (5), 1H-indole-3-carboxaldehyde (6), irpexolaceus B (7), irlactin L (8), cytochalasin K (9), and helvolic acid (10), a total of 8 known compounds. The structure of the compound was determined using methods such as NMR and mass spectrometry. The tumor cytotoxicity of the compound was evaluated using the CCK-8 method. The results showed that the IC₅₀ of compound 2 on HepG2 cells was 29.83 µmol·L^-1, and compound 9 on HCT116 cells was 27.44 µmol·L^-1.

Aim To investigate the dynamic changes of neuronal cells at different time points following acute cerebral ischemia-reperfusion injury by establishing a model of brain ischemia-reperfusion injury.Methods Thirty male Sprague-Dawley(SD)rats were ran-domly divided into six groups:sham group and cere-bral ischemia-reperfusion injury(IR)groups at differ-ent time points.Focal cerebral ischemia-reperfusion injury model was established using the middle cerebral artery occlusion(MCAO)technique.The Longa sco-ring method was used to assess neurobehavioral scores in rats.After successful model preparation,routine paraffin sections were made,and TUNEL staining and immunohistochemistry staining with NeuN antibody were performed to observe cell apoptosis and neuronal cell survival,respectively.Immunohistochemistry stai-ning was also performed to investigate the changes in glial fibrillary acidic protein(GFAP)as a marker for astrocytes,ionized calcium-binding adapter molecule 1(IBA-1)as a marker for microglia,and CD31 as a marker for endothelial cells at different time points.Results No significant changes were observed in neu-ronal cells of the sham group at different time points.In the cerebral ischemia-reperfusion injury groups,cell apoptosis was activated at IR3h and increased in quan-tity with morphological damage as time progressed.Ne-uN+neurons showed signs of ischemic injury after IR3h,with abnormal cell morphology.From 12 h,Ne-uN+neurons decreased in a time-dependent manner and reached their peak severity at 24 h.GFAP+astro-cytes decreased significantly after IR3h,while poorly labeled GFAP+astrocytes increased at IR 6 h and al-most disappeared in the infarcted area at 24 h and 48 h.The number of IBA-1+microglia-positive cells de-creased at IR3h,and their volume increased at IR6h.Microglial cell death was observed in the infarcted area at IR12h.CD31+endothelial cells around the infarc-ted cortex and striatum increased significantly after IR3h and persisted until 48 h.Conclusions After cerebral ischemia-reperfusion injury,the number of ap-optotic cells increases with the prolongation of time,and NeuN+neurons exhibit the most severe damage at 24 h.GFAP+astrocytes and microglial cells gradually die over time.The number of CD31+endothelial cells increases significantly around the infarcted cortex and striatum after 3 h of reperfusion and persists until 48 h.

Objective To investigate the effect of microRNA-214-3p (miR-214-3p) expression in cancer-associated fibroblasts (CAFs) on the cisplatin sensitivity of ovarian cancer cells and its mechanism. Methods Sixty-four ovarian cancer patients were selected as study subjects and divided into platinum-partially sensitive group and platinum-sensitive group based on progression-free survival after chemotherapy. Real-time quantitative polymerase chain reaction (qRT-PCR) was used to detect the relative expression of miR-214-3p in ovarian cancer tissues from the two groups, and the 2-year survival rates of patients with different clinical characteristics were compared. CAFs and normal ovarian fibroblasts (NFs) were primarily cultured, and qRT-PCR and immunofluorescence experiments were used to detect the expression of miR-214-3p and p62 protein in CAFs and NFs. The expression levels of SQSTM1 gene in different types of ovarian cells were searched through the CSIOVDB database. CAFs were transiently transfected with miR-214-3p mimic (mimic group) and miR-214-3p mimic NC (NC group), and untransfected CAFs were selected as control group. Cell culture supernatants from each group were collected, and an indirect co-culture model of ovarian cancer cell line SKOV3 with CAFs from each group was established. The CCK-8 method, DCFH-DA method, qRT-PCR, and immunoblotting were used to detect the proliferation rate, half-maximal inhibitory concentration of cisplatin (IC50), reactive oxygen species (ROS) content, and relative expression levels of miR-214-3p, cisplatin resistance gene CCND1, and autophagy protein p62 in SKOV3 cells under different culture conditions. Results The relative expression of miR-214-3p was lower in the platinum-partially sensitive group than in the platinum-sensitive group (P < 0.01). There were statistically significant differences in the 2-year survival rates among patients with different International Federation of Gynecology and Obstetrics (FIGO) stages, platinum partial sensitivity, and low miR-214-3p expression (P < 0.01). The relative expression of miR-214-3p was lower in ovarian CAFs than in NFs, while the expression level of p62 protein was higher in CAFs than in NFs (P < 0.01). Online analysis of the CSIOVDB database showed that the expression level of SQSTM1 gene in ovarian CAFs was higher than that in ovarian cancer epithelial cells and NFs (P < 0.01). Compared with SKOV3 cells indirectly co-cultured with CAFs in the control group and CAFs in NC group, SKOV3 cells indirectly co-cultured with mimic CAFs showed reduced proliferation rate, cisplatin IC50, and ROS content, increased relative expression of miR-214-3p, and decreased relative expression of CCND1 mRNA and p62 protein (P < 0.01). Conclusion The expression of miR-214-3p in CAFs is correlated with the sensitivity of ovarian cancer cells to cisplatin. Low expression of miR-214-3p in CAFs can promote the proliferation of ovarian cancer cells and ROS-mediated autophagy, thereby reducing the sensitivity of ovarian cancer cells to cisplatin.

Objective In this study,we attempted to investigate whether Electroacupuncture(EA)could promote the autophagy function in macrophages of inflammatory skin tissues by activating CB2 receptor,thus relieving inflammatory pain induced by CFA in mice,and whether activation of CB2 receptor in NR8383 macrophages cell line can simulate the effect of EA on the autophagy function and mitochondrial damage.Methods Inflammatory pain model was induced by CFA injection into the planta the hind paw of wildtype and CB2 knockout mice.EA or sham EA was applied on the left Huantiao(GB30)and Yanglingquan(GB34)sites.Thermal hyperalgesia was determined with the Hargreaves test.Mechanical sensitivity was assessed with von Frey filaments.NR8383 microphage cell line was used to study the effect of CB2 activation on macrophage function induced by CFA.The expression level of autophagy protein LC3 and p62 in wildtype and CB2 knockout mice skin tissue and NR8383 cell line were determined by Western blot.And flow cytometry analysis was applied to detect damaged mitochondria and mitochondrial superoxide.Results CFA significantly reduced the thermal and mechanical pain threshold in both wildtype and CB2 knockout mice,comparing with the vehicle control groups(P<0.01).EA significantly inhibited thermal and mechanical hyperpathia induced by CFA in wildtype mice(P<0.05),but had no effect on CB2 knockout mice with CFA(P>0.05).CFA significantly increased the expression of p62 protein and decreased LC3-II/I ratio,which was inversed by EA in wildtype mice but wasn't affected by EA in CB2 knockout mice.CFA increased the expression of p62 protein and decreased LC3-II/I ratio in NR8383 cell line,which were inversed by CB2 agonist AM1241.CFA increased mitochondria damage,which were then attenuated by CB2 agonist AM1241.Conclusion The analgesic effect of EA on inflammatory pain induced by CFA was mediated by activation of CB2 receptor,which promoted the autophagy function and the clearance of damaged mitochondria in macrophage.