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Objective:To analyze the risk factors associated with retinal detachment in patients with myopia, and to establish and validate the predictive column-line diagram model.Methods:A cross-sectional clinical study. From January 2020 to November 2021, 90 patients with myopia combined with retinal detachment who were diagnosed by ophthalmologic examination in the People's Hospital of Ningxia Hui Autonomous Region were included in the study (observation group). Ninety myopic patients with age- and gender-matched myopia who underwent ophthalmologic examination for myopia during the same period were selected as the control group. The clinical data of the two groups were analyzed, and the indicators with differences were subjected to univariate and multivariate logistic regression analyses. The results of the regression analyses were visualized by using R software to obtain the column charts, and the accuracy of the column charts was verified by the ROC curves of the subjects' work characteristics; the clinical efficacy of the column chart model was verified by the internal data.Results:Compared with the control group, patients in the observation group were older, had higher myopic refraction, had more visual fatigue, ocular trauma, and cataracts, had lower choroidal and retinal thickness, and had more history of ophthalmic surgery, and the differences were statistically significant ( P<0.05). The area under the ROC curve (AUC) for age, myopic refraction, retinal thickness, and choroidal thickness were 0.612, 0.613, 0.720, and 0.704, respectively; the optimal cutoff values were 43 years old, -3.5 D, 225 μm, and 144 μm. the ROC values were 0.612, 0.613, 0.720, and 0.704 for age (>43 years old), myopic refraction (>-3.5 D), visual fatigue (yes), ocular trauma (yes), cataracts (yes), retinal thickness (≤225 μm), and choroidal thickness (≤144 μm) were the risk factors affecting the development of retinal detachment in myopic patients ( P<0.05). The consistency index of the column chart model for predicting the risk of retinal detachment in patients with myopia was 0.731 (95% confidence interval 0.665-0.824); the risk threshold for predicting the development of retinal detachment in patients was >0.07. Conclusions:Age >43 years, myopic refraction >-3.5 D, presence of visual fatigue, ocular trauma, cataract, retinal thickness ≤225 μm, choroidal thickness ≤144 μm are the risk factors affecting the development of retinal detachment in myopic patients. The column-line diagram model constructed on the basis of the risk factors has good accuracy.
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Objective:To explore the relationship between children's intelligence and urinary fluoride in Suojia Township of Miao, Yi and Hui Nationalities (referred to as Suojia Township), a coal-burning-borne endemic fluorosis area in Guizhou Province.Methods:In April 2019, 173 children aged 10 to 13 years old were selected from three schools in Suojia Township. According to whether they had dental fluorosis, the children were divided into case group ( n = 104) and control group ( n = 69). Middle segment urine samples of the children were collected and urinary fluoride level was determined by the method of ion-selective electrode. Combined Raven's Test-the Rural in China (CRT-RC2) was used for children's intelligence quotient (IQ) test. Linear regression analysis was used to observe the association between urinary fluoride and IQ, and the results were expressed by regression coefficient ( β) and 95% confidence interval ( CI). Results:Urinary fluoride level of case group was higher than that of control group [(2.14 ± 1.78) vs (1.53 ± 0.98) mg/L], and IQ was lower than that of control group [(92.33 ± 11.68) vs (100.38 ± 11.87) points], and the differences were statistically significant ( t = 2.58, 4.41, P < 0.05). The linear regression equation of urinary fluoride ( X) and IQ ( Y) of case group was Y = 96.99 - 2.86 X. For every 1 mg/L increase in urinary fluoride level, IQ decreased by 2.86 points ( β = - 2.86, 95% CI: - 5.48 - - 0.24). Conclusion:Long-term exposure to fluoride pollution from coal burning may damage children's intelligence, and children's IQ decreases with increase of fluoride level in urine.
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Objective:To investigate the association between relative mitochondrial DNA copy number (mtDNA-CN) and coal-burning-borne endemic fluorosis (abbreviated as coal-burning-borne fluorosis).Methods:From June 2018 to March 2019, using cross-sectional study, 482 patients with coal-burning-borne fluorosis were selected as the case group in Bijie City, a typical coal-burning-borne fluorosis area of Guizhou Province; meanwhile, 212 healthy individuals from Changshun County, a non-coal-burning-borne fluorosis area in Guizhou Province, were selected as the control group. Questionnaire survey and physical examination were used to collect general condition such as basic information and living habits of the two groups, peripheral venous blood samples were collected, and real-time fluorescence quantitative PCR was used to detect the relative mtDNA-CN in peripheral blood. The correlation between relative mtDNA-CN and coal-burning-borne fluorosis was analyzed by binary and unordered multi-class logistic regression.Results:There were significant differences in the body mass index (BMI), and the distribution of gender rario, marital status and education level between the control group and the case group ( t = 7.91, χ 2 = 5.11, 13.33, 34.32, P < 0.05). The relative mtDNA-CN in the control group was higher than that in the case group [median (quartile): 202 (138, 292) vs 131 (96, 217), Z = - 7.80, P < 0.001]. The results of binary logistic regression analysis [odds ratio (95% confidence interval)] showed that educational level [primary school: 0.572 (0.377 - 0.868), junior high school and above: 0.292 (0.174 - 0.493)], relative mtDNA-CN [131 - < 217: 0.265 (0.144 - 0.488), ≥217: 0.183 (0.100 - 0.335)] and BMI [1.222 (1.142 - 1.307)] were the influencing factors for the risk of coal-burning-borne fluorosis( P < 0.05). In subgroups with different BMI and educational levels, the relative mtDNA-CN was significantly negatively correlated with the risk of coal-burning-borne fluorosis( Ptrend < 0.05), and there was no interaction between mtDNA-CN and BMI and educational levels ( Pinteraction > 0.05). The results of unordered multi-class logistic regression analysis showed that the relative mtDNA-CN were significantly negatively correlated with the risk of dental fluorosis and skeletal fluorosis ( Ptrend < 0.05). Conclusion:The higher the relative mtDNA-CN, the lower the risk of coal-burning-borne fluorosis, suggesting that mtDNA-CN may be a potential biomarker of coal-burning fluorosis.
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Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans-type cells, which may occur concurrently or sequentially with T-cell acute lymphoblastic leukemia (T-ALL) and other Lymphoid neoplasms. A 15-year old female patient diagnosed with T-ALL developed LCH involving multiple systems during maintenance chemotherapy of T-AL. After treated with chemotherapy with improved result, the patient showed progression of the illness and refractory to the second-line treatment. We found c.G35A (p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment. The treatment proved effective, leading to partial remission within a week. Three months after Trametinib treatment, the patient developed new lymphadenopathy. Biopsy revealed the existence of LCS. The disease progressed quickly, and the patient died 7 days after diagnosis of LCS. The case of patients with T-ALL then developing LCH and LCS sequentially is extraordinarily rare. The causes of the case is unclear and may be related to cell transdifferentiation, clonal evolution, and chemotherapy. Targeted drugs can contain this disease for a short time.
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Objective:To understand the current situation of children's fluorosis in the coal-burning-borne endemic fluorosis areas (abbreviated as coal-burning fluorosis) in Suojia Miao, Yi and Hui Township (Suojia Township for short) in Liuzhi Tequ, Guizhou Province, and to provide scientific basis for formulating prevention and control strategies and measures.Methods:In 2019, the cluster sampling method was adopted to select children aged 8-12 years old from 6 primary schools in Suojia Township, Liuzhi Tequ, Guizhou Province to conduct a questionnaire survey to collect basic information, and perform dental fluorosis examination and indexing in accordance with the "Diagnosis of Dental Fluorosis" standards. Immediate urine samples were collected from children in April and October, and urinary fluoride content was determined by ion selective electrode method.Results:A total of 1 381 children aged 8-12 years old were investigated, aged (9.84 ± 1.38) years old, including 679 boys and 702 girls. A total of 625 children with dental fluorosis were detected, and the detection rate was 45.26%; the dental fluorosis index was 1.00, and the prevalence intensity was moderate; the main score of dental fluorosis was extremely mild, accounting for 37.00% (511/1 381). The detection rates of dental fluorosis in children aged 8 to 12 years old were 35.10% (106/302), 35.83% (115/321), 47.96% (129/269), 55.23% (153/277), and 57.55% (122/212), respectively; the difference between different ages was statistically significant (χ 2 = 48.949, P < 0.01), and the detection rate of dental fluorosis in children increased with age(χ 2trend = 45.254, P < 0.01).The detection rates of dental fluorosis in boys and girls were 43.59% (296/679) and 46.87% (329/702), respectively, and there was no significant difference between different genders (χ 2 = 1.492, P > 0.05). In April and October, 123 and 107 urine samples of children aged 8-12 years old were tested. The geometric mean of urinary fluoride was 1.55 and 0.47 mg/L, respectively. The urinary fluoride level in April was higher than the normal range (< 1.40 mg/L). Conclusions:Suojia Township in Liuzhi Tequ of Guizhou Province is still a fluorosis area, and there is a big difference in urinary fluorine level in different months, which indicates that the residents in this area may have intermittent high fluorine intake, and prevention and control of endemic fluorosis should be further strengthened.
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Objective:To investigate the relationship between gene polymorphism of osteoprotegerin (OPG) and coal-burning endemic fluorosis in Guizhou Province.Methods:In 2018 and 2019, a case-control study was conducted in Bijie City, a typical coal-burning endemic fluorosis area in Guizhou Province, and 260 cases of coal-burning endemic fluorosis patients were selected as case group. According to the "Diagnostic Criteria for Endemic Skeletal Fluorosis" (WS 192-2008), the case group was divided into severe group (130 cases) and mild group (130 cases). At the same time, 130 cases without dental fluorosis and skeletal fluorosis symptoms were chosen as control group in Changshun County, a non-coal-burning endemic fluorosis area in Guizhou Province. Whole blood genomic DNA was extracted, and real-time fluorescence quantitative PCR with TaqMan-MGB probe was utilized to type the OPG gene rs2460985, rs2073618, rs6469804 and rs6993813 four single nucleotide polymorphism (SNP) loci of all samples, and genetic model analysis was performed to compare the frequency distribution of its alleles, genotypes and constructed haplotypes in control, mild and severe groups. Results:By Hardy-Weinberg equilibrium test, the genotype frequencies of the four SNP loci all reached genetic balance in control, mild and severe groups ( P > 0.05). There was a statistically significant difference in the genotype frequency of OPG gene rs6469804 locus among the three groups (χ 2 = 10.615, P < 0.05), and the difference in the genotype frequency of this locus between the control group and the severe group was statistically significant (χ 2 = 6.784, P < 0.05). The results of genetic model analysis showed that in comparison between the control group and the severe group, the optimal genetic model of rs6469804 locus was the overdominant genetic model, the frequency distribution of genotypes AA + GG and AG in the control group and the severe group was statistically significant [odds ratio ( OR) = 1.94, 95% confidence interval ( CI): 1.16 - 3.23, P < 0.05], genotype AG was a risk factor for coal-burning endemic fluorosis. In comparison between the control group and the mild group, the optimal genetic model of rs2073618 locus was the recessive genetic model, the frequency distribution of genotypes GG + GC and CC in the control group and the mild group was statistically significant ( OR = 3.17, 95% CI: 1.08 - 9.30, P < 0.05), genotype CC was a risk factor for coal-burning endemic fluorosis. In comparison between the control group and the mild group, haplotypes C-C-G-T and T-G-A-C were risk factors for coal-burning endemic fluorosis (adjusted OR = 2.41, 1.98, 95% CI: 1.29 - 4.50, 1.22 - 3.23, P < 0.05); in comparison between the control group and the severe group, haplotype T-G-A-C was a risk factor for coal-burning endemic fluorosis (adjusted OR = 1.87, 95% CI: 1.14 - 3.07, P < 0.05). Conclusion:OPG gene rs6469804 locus genotype AG and rs2073618 locus genotype CC may be risk factors for coal-burning endemic fluorosis.
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<p><b>OBJECTIVE</b>To study the distribution of haplotypes of Y-chromosomal short tandem repeats (Y-STR) loci among three ethnic minorities from Guizhou, China.</p><p><b>METHODS</b>Twenty four Y-STR loci of 174 unrelated males were amplified with a Microreader(TM)24Y Direct ID System kit. Capillary electrophoresis was carried out on an ABI 3100 Genetic Analyzer, and the data was analyzed with GeneMapper software.</p><p><b>RESULTS</b>Seventy six haplotypes were identified for the 24 Y-STR loci among the three ethnic minorities, including 13 from the Qiangs, 35 from the Manchurians, and 28 from the Shes, with the corresponding Haplotype Diversity (HD) being 0.7327, 0.9578, and 0.9344. Genetic distance between the Shes and Qiangs was relatively close, whilst that for Manchurians was relatively far.</p><p><b>CONCLUSION</b>Analysis of the genetic characteristics and relationship of the three ethnic minorities from Guizhou can provide a reference for the study of their origin, evolution and patrilineal fusion.</p>
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Objective To investigate the role of combined analysis of E2F3a and CASP8AP2 expression in prognosis evaluation in pediatric acute lymphoblastic leukemia (ALL). Methods The study included 141 newly diag-nosed pediatric ALL patients enrolled at the Hematology Center,Beijing Children′s Hospital,Capital Medical Universi-ty between March 2008 and July 2010,including 97 boys and 44 girls(aged 1. 2 - 15. 5 years,median 5. 2 years). E2F3a and CASP8AP2 expressions were quantified in 141 children with ALL by adopting real - time quantitative poly-merase chain reaction (qPCR). Receiver operating characteristic (ROC)curve was used to find the best cut - off point to divide the patients into E2F3a or CASP8AP2 low - and high - expression groups,and the treatment outcome between the groups was compared. Cox regression was used to analyze the prognostic significance of the combined expression of E2F3a and CASP8AP2. Results The estimated 5 - year relapse free survival(RFS)rate,event free survival(EFS) rate and overall survival (OS)rate of patients with low - E2F3a and low - CASP8AP2 expression were (58. 9 ± 10. 0)％,(56. 0 ± 9. 9)％ and (72. 0 ± 9. 0)％,respectively. They were significantly lower than those of patients with high - E2F3a and high - CASP8AP2 expression,whose RFS,EFS and OS were (94. 9 ± 2. 5)％,(93. 7 ± 2. 7)％ and (96. 2 ± 2. 2)％,and the differences were all statistically significant(all P < 0. 05),respectively. Compared with other patients,the one with low expression of both E2F3a and CASP8AP2 had a poorer prognosis. In addition to MLL rear-rangements and minimal residual disease level at the end of remission induction,low expression of both E2F3a and CASP8AP2 remained as independent prognostic factors. Conclusion Low expressions of E2F3a and CASP8AP2 pre-dict poor prognosis in pediatric ALL. Combined assessment of E2F3a and CASP8AP2 expression could predict poor prognosis and relapse more accurately.
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In recent years, the appearance of tumor cell chemoresistance has brought new challenges to the treatment and prognosis of bladder cancer. Therefore, it is more and more urgent to study the chemoresistance mechanisms of bladder cancer. The current studies show that the chemoresistance mechanisms of bladder cancer mainly include drug efflux, epithelialmesenchemal transformation (EMT), cell autophagy, microRNA regulation and genetic epigenetic modification, which involves a variety of cell signal transduction pathways. Moreover, the different mechanisms of chemoresistance maybe have connections with each other by the same signaling pathways, thus forming a complex regulatory network. This paper reviews the latest progress in the study of chemoresistance mechanisms of bladder cancer, in order to provide new ideas for the targeted treatment of bladder cancer.
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Objective To study the frequency of 9 bp sequence deletion of mithochondrial DNA in three ethnic nationalities of Guizhou Province .Methods A total of 183 male blood samples were randomly extracted from Miao nationality (69 cases) in Leishan County ,Shui nationality (44 cases) and Buyi nationality (70 cases) in Libo County .Polymerase chain reaction(PCR) and di-rect sequencing were used to detect the mithochondrial DNA 9 bp sequence deletion .Results The standard type ,deleting type and 3 type were found in the samples of 3 ethnic nationalities in Guizhou Province ,the highest deletion frequency was Shui nationality (40 .91% ) in Libo County ,1 cases of 3 type was detected in Miao nationality of Leishan County ,and the mtDNA 9 bp deletion fre-quency had no statistical difference among 3 ethnic nationalities(P>0 .05) .Conclusion The frequency of mtDNA 9 bp deletion is different among three native minorities ,the genetic variation in Shui nationality is larger ,compared with Miao nationality genetic re-lationship ,Shui nationality has a relatively closer affinity with Buyi nationality .
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Objective To investigate the association between HLA-DP gene polymorphism and the susceptibility to hepatitis B virus (HBV) infection in people in Buyi,Miao and Shui ethnic groups in Guizhou.Methods A total of 256 patients with HBV infection,142 HBV self-cleared patients and 135 controls were recruited from 3 ethnic groups for this case-control study.Genotypes of rs3077 and rs9277535 were determined by using real-time PCR with a TaqMan-MGB probe.Results Compared with healthy subjects and self-cleared subjects,the allele distribution of rs9277535 was significantly associated with chronic HBV infection (P＜0.05),no significant differences in rs3077 allele and genotype distributions were found among 3 groups (P＞0.05).Compared with the rs9277535 GG genotype,the AA and AG genotypes were protective factors against HBV infection in dominant model after adjustment for age and sex (OR=0.645,95％CI:0.421-0.988),and no significant difference in rs3077 locus was found in the same analysis (P＞0.05).For men,the rs3077 locus CC and CT genotypes were also protective factors against HBV infection (OR=0.493,95％CI:0.266-0.916),and there was no significant difference in rs9277535 locus compared the genotype distributions among 3 groups in dominant mode.Comparison of allele and genotype distribution in 3 ethnic groups showed that HLA-DP gene rs3077 genotype distributions had significant difference between the HBV infection group and the healthy control group in Buyi ethnic group (x2=6.726,P=0.036).Conclusions The presence of rs9277535A allele at HLA-DP gene polymorphisms might decrease the risk for HBV infection,the rs3077 C allele at HLA-DP gene polymorphisms might also confer protective effect against HBV infection in women.No significant correlation between HLA-DP gene rs3077 and rs9277535 locus polymorphism and HBV clearance was found in this study.The HLA-DP gene rs3077 genotype distribution of HBV-infected patients had significant differences among different ethnic groups.
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Objective To investigate the correlation between fibroblast growth factor receptor 2 (FGFR2) gene polymorphism and endemic fluorosis.Methods In Bijie City,Guizhou Province coal-burning-borne high fluoride areas,148 patients with fluorosis were selected as endemic fluorosis group;in non high fluoride areas of Changshun County of Guizhou Province,134 healthy people were selected as control group.Short tandem repeats (STRs)-PCR was utilized to detected the FGFR2 rs35668561 and D10S14839 microsatellite polymorphisms in endemic fluorosis cases and controls.Results FGFR2 rs35668561 461 bp (22AG)allele frequency of endemic fluorosis group (1.01％) was significantly lower than that of the control group (3.36％,x2 =5.29,P ＜ 0.05).FGFR2 D10S14839 286 bp (9GT),300 bp (16GT),310 bp (21GT) and 314 bp (23GT) allele frequency in the endemic fluorosis group were 14.53％,11.82％,16.89％ and 8.11％,in the control group were 22.01％,6.34％,8.96％ and 16.42％,the difference was statistically significant.Then 300 bp (16GT)and 310 bp (21GT)allele frequency of endemic fluorosis group was significantly higher than that of the control group (x2 =6.82,7.77,all P ＜ 0.05),and 286 bp (9GT),314 bp (23GT) allele frequency of endemic fluorosis group was significantly lower than that of the control group (x2 =5.32,9.16,all P ＜ 0.05).Conclusions FGFR2 rs35668561 and D10S14839 polymorphism are associated with endemic fluorosis.FGFR2 rs35668561 461 bp (22AG) allele may be a protective factor of endemic fluorosis.D10S14839 300 bp (16GT) and 310 bp (21GT) allele may be risk factors of endemic fluorosis,286 bp (9GT) and 314 bp (23GT) allele may be protective factors of endemic fluorosis.
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Objective To compare the transfection efficiency between different transfection methods in human HepG2 and SGC7901/ADM cells so as to provide experimental basis for further study .Methods To electrons fect the enhanced GFP plasmid into HepG2 and SGC7901/ADM cells by lipofection and electroporation methods ,respectively .The survival rates and transfection efficiency were analyzed .Results The efficiency of eGFP vector transfected into HepG2 cells by lipofection was (23 .8 ± 2 .1)% , compared with lipofection method ,the efficiency of eGFP plasmid transfected by electroporation was up to (49 .6 ± 2 .5)% ,and the difference was statistically significant(P<0 .05) .The efficiency of SGC7901/ADM cells by lipofection was (25 .4 ± 1 .3)% ,com‐pared with lipofection method ,the efficiency of electroporation was up to(52 .6 ± 2 .1)% ,and the difference was statistically signifi‐cant(P<0 .05) .This study provides reliable test parameters for electransfection of HepG2 and SGC7901/ADM cells .Conclusion The transfection efficiency of large fragment vector is efficiently improved by electroporation .
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Objective To analysis the frequency of 9 bp deletion polymorphism of mitochondrial DNA(mt DNA)among Miao population in three geographical regions of Guizhou.Methods Polymerase chain reaction and polyacrylamide gel electrophoresis (PCR-PAGE)were used in the study of mtDNA 9 bp deletion polymorphism,DNA sequence was used to verify the results.Results Each group who come from Basa,Shajin,Longjie in Guizhou,the frequency of 9 bp deletion of mtDNA value as 19.15%(9/47), 42.5%(17/40)and 29.55%(13/43).Short polymorphic frequency difference was statistically significant between Basa and Shajin groups(P<0.05).Conclusion The frequencies of 9 bp deletion of mtDNA are relatively high in Miao ethnic group in Guizhou. There are certain differences of the delegation frequencies among these groups.
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Objective:To investigate the association between polymorphisms of FGFR2 and the susceptibility of breast cancer in Han population in Guizhou province.Methods:Genotyping was performed using PCR-sequence-specific primers(PCR-SSP)in 106 histologically confirmed breast cancer cases and 116 cancer-free controls.Results:The genotype frequencies of rs1219648 TT,TC,and CC were 50%,25.47%.and 24.53% in breast cancer cases and 29.31%,48.28%,and 22.41% in the controls.The gene frequencies of T in breast cancer cases and the controls were 62.74% and 53.45%.respectively.The gene frequencies of C were 37.26% and 46.55%.respectively.The distribution of allele and genotype frequencies of FGFR2 rs1219648 was statistically different between breast cancer cases and the controls(P<0.05).Conclusion:FGFR2 rs1219648 polymorphism influences the susceptibility of breast cancer.TT genotype might serve as a risk factor for breast cancer.