OBJECTIVES: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population. METHODS: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association. PLINK software was used to perform Hardy-Weinberg equilibrium (HWE) test. Association analysis for common variants, gene burden analysis for rare mutations, and function prediction of SNPs with non-synonymous mutations were performed using Mutation Taster and other software programs. RESULTS: In the first stage, 126 variants, including 76 single nucleotide variants and 50 insertion-deletions were identified. All the included SNPs confirmed to HWE, and the results of gene burden analysis and prediction of functional harmfulness for rare variants were not statistically significant. Association analysis showed that rs13292899 of the FOXE1 gene was significantly associated with NSCL/P (P=1.85E-27) and was also correlated with NSCLO (P=6.41E-23) and non-syndromic cleft lip with cleft palate (NSCLP) (P=2.36E-15) subtypes. In the validation phase, rs79268293 (P=0.013, P=0.022), rs10983951 (P=0.009 2, P=0.007 6), rs117227387 (P=0.009 2, P=0.007 6), rs3758250 (P=0.009 2, P=0.007 6), and rs116899397 (P=0.009 2, P=0.007 6) were significantly associated with NSCLO and NSCPO; rs13292899 (P=0.008 5), rs74606599 (P=0.008 3), rs143226042 (P=0.008 3), and rs117236550 (P=0.01) were associated with the occurrence of NSCLO; and rs12343182 (P=0.008 7), rs10119760 (P=0.012), rs10113907 (P=0.012), and rs13299924 (P=0.012) were associated with the occurrence of NSCPO. CONCLUSIONS This study found a new susceptible SNP rs13292899 of the FOXE1 gene that is closely associated with NSCL/P and NSCLO subtype and 13 other SNPs associated with NSCLO or NSCPO.
Female ; Humans ; Male ; China ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Forkhead Transcription Factors/genetics* ; Haplotypes ; Polymorphism, Single Nucleotide ; East Asian People/genetics*

Objective:To explore the effect of CO2 fractional laser combined with glucocorticoid(GC)on T follicular helper cell(Tfh)and B cell subsets in patients with advanced vitiligo(VL).Methods:Patients with advanced VL(128 cases)who were treated in Affiliated Hospital of Hebei University of Engineering from August 2019 to March 2022 were selected as research objects,and divided into group A(64 cases,CO2 fractional laser combined with GC)and group B(64 cases,CO2 fractional laser)according to different treatment methods,clinical efficacy and safety of the two groups were compared.Another healthy subjects(64 cases)were selected as control group.Collected clinical data of the three groups of subjects for comparative analysis.Randomized walking model was used to evaluate the effect of CO2 fractional laser combined with GC on immune function and inflammatory response in patients with advanced VL.Results:Compared with group B,group A had a higher clinical total effective rate(P<0.05)and a lower probability of adverse reactions(P<0.05).After treatment,compared with control group,proportion of Tfh2 and Tfh17 in group A had no significant difference(P>0.05),while proportion of Tfh2 and Tfh17 in group B still had significant difference(P<0.05);compared with group B,proportion of Tfh2 in group A after treatment was higher(P<0.05),while proportion of Tfh17 type was lower(P<0.05).After treat-ment,compared with control group,proportion of memory transformed B cell in group B was still significantly different(P<0.05).After treatment,compared with control group,levels of IgA,IgE and IgM in group B were still significantly different(P<0.05);compared with group B,level of IgM in group A was higher after treatment(P<0.05).After treatment,compared with control group,levels of IL-21 and IL-1β in group B were still significantly different(P<0.05);compared with group B,level of IL-10 in group A after treatment was higher(P<0.05),while levels of IL-21 and IL-1β were lower(P<0.05).Evaluation results of random walking model showed that the improvement of immune function and inflammatory reaction in group A was better than that in group B.Conclusion:CO2 fractional laser combined with GC can improve the immune function and inflammatory reaction of patients with advanced VL better after treatment,and the probability of adverse reactions is lower.

Objective To investigate the relationship between platelet distribution width(PDW)and coronary artery calcification(CAC)in overweight and obese populations.Methods Clinical and chest CT data of 10 838 subjects with overweight or obesity(body mass index[BMI]≥24 kg/m2)were retrospectively analyzed.The subjects were divided into CAC group(n=4 237)and non-CAC group(n=6 601)based on CAC scores obtained from chest CT.The relationship between PDW and CAC in overweight and obese populations was analyzed after controlling confounding variables.A threshold effect analysis was conducted using a two-stage logistic model to find the non-linear inflection point.Subgroup analyses and interaction tests were conducted to validate the stability of the relationship between PDW and CAC.Results Non-linear relationship was observed between PDW and CAC risk in overweight and obese populations.The risk of CAC decreased with the increase of PDW which ≤17.80％(OR=0.82),but increased with the increase of PDW(OR=1.04)which＞17.80％.Subgroup analysis showed that the relationship between PDW and CAC remained stable in subgroups of different genders,BMI(＜28 kg/m2,≥28 kg/m2)and hypertension(all P＞0.05).Compared with aged＜40 years or ≥60 years subgroups,under the same PDW,aged≥40 and＜60 years subgroups had higher risk of CAC(interaction P=0.015).Conclusion Nonlinear relationship existed between PDW and CAC in overweight and obese populations.Both excessively high and low PDW were risk factors of CAC.

Objective To establish a gas chromatography-mass spectrometry (GC-MS) method for the simultaneous determination of four carbonate compounds (CCs), including ethyl methyl carbonate (EMC), diethyl carbonate (DEC), vinylene carbonate (VC), and ethylene carbonate (EC) in workplace air. Methods Vapor-phase EMC, DEC, VC, and EC in workplace air were collected using activated carbon tubes. After desorption with dichloromethane, the samples were analyzed by GC-MS. Qualitative identification was performed based on retention times and characteristic ions, while quantitative analysis was conducted using peak areas of selected characteristic ions. Results The quantitative determination ranges for the four CCs were from 0.57×10⁻³ to 200.00 mg/L, with correlation coefficients ≥0.999 45. The detection limit ranged from 0.17 to 1.60 μg/L, and the lower limit of quantification ranged from 0.57 to 5.33 μg/L. The minimum detection concentration and minimum quantitation concentration were 0.11-1.07 and 0.38-3.55 μg/m³, respectively. Mean spiked recoveries ranged from 85.70% to 111.65%. The intra- and inter-batch relative standard deviations were 0.11%-2.04% and 1.27%-5.18%, respectively. Mean desorption efficiencies of the method ranged from 74.70% to 118.20%. EMC, DEC, and EC samples were stable for up to five days at 4 °C, while VC samples were stable for up to three days at 4 °C. Conclusion The GC-MS method is suitable for the simultaneous determination of the four CCs including EMC, DEC, VC, and EC in workplace air.

Objective To investigate the relationship between platelet distribution width(PDW)and coronary artery calcification(CAC)in overweight and obese populations.Methods Clinical and chest CT data of 10 838 subjects with overweight or obesity(body mass index[BMI]≥24 kg/m2)were retrospectively analyzed.The subjects were divided into CAC group(n=4 237)and non-CAC group(n=6 601)based on CAC scores obtained from chest CT.The relationship between PDW and CAC in overweight and obese populations was analyzed after controlling confounding variables.A threshold effect analysis was conducted using a two-stage logistic model to find the non-linear inflection point.Subgroup analyses and interaction tests were conducted to validate the stability of the relationship between PDW and CAC.Results Non-linear relationship was observed between PDW and CAC risk in overweight and obese populations.The risk of CAC decreased with the increase of PDW which ≤17.80％(OR=0.82),but increased with the increase of PDW(OR=1.04)which＞17.80％.Subgroup analysis showed that the relationship between PDW and CAC remained stable in subgroups of different genders,BMI(＜28 kg/m2,≥28 kg/m2)and hypertension(all P＞0.05).Compared with aged＜40 years or ≥60 years subgroups,under the same PDW,aged≥40 and＜60 years subgroups had higher risk of CAC(interaction P=0.015).Conclusion Nonlinear relationship existed between PDW and CAC in overweight and obese populations.Both excessively high and low PDW were risk factors of CAC.

OBJECTIVES: To explore the value of serum cystatin C (CysC) levels in evaluating renal prognosis in IgA nephropathy (IgAN) patients. METHODS: We retrospectively collected the clinical data of IgAN patients diagnosed by renal biopsy at Guangdong Provincial People's Hospital from January, 2014 to December, 2018. Based on baseline serum CysC levels, the patients were divided into high serum CysC (>1.03 mg/L) group and normal serum CysC (≤1.03 mg/L) group. The composite endpoint for poor renal prognosis was defined as ≥50% decline in estimated glomerular filtration rate (eGFR) and/or progression to end-stage renal disease (ESRD). Lasso regression, multivariate Cox regression and Kaplan-Meier survival analysis were used to identify the risk factors and compare renal survival rates between the two groups. Smooth curves fitting and threshold effect analysis were used to explore the relationship between serum CysC levels and the outcomes. A nomogram model was constructed and its predictive performance was evaluated using concordance index, calibration curve, receiver operating characteristic (ROC) curve and the area under curve (AUC). RESULTS: A total of 356 IgAN patients were enrolled, who were followed up for 4.65±0.93 years. The composite endpoint occurred in 74 patients. High serum CysC was identified as an independent risk factor for poor renal prognosis in IgAN (HR=2.142, 95% CI 1.222 to 3.755), and the patients with high serum CysC levels had a lower renal survival rate (Log-rank χ²=47.970, P<0.001). In patients with serum CysC below 2.12 mg/L, a higher CysC level was associated with an increased risk of poor renal prognosis (β=3.487, 95% CI: 2.561-4.413, P<0.001), while above this level, the increase of the risk was not significant (β=0.676, 95% CI: -0.642-1.995, P=0.315). The nomogram model based on serum CysC and 3 other independent risk factors demonstrated good internal validity with a concordance index of 0.873 (95% CI: 0.839-0.907) and an AUC of 0.909 (95% CI: 0.873-0.945). CONCLUSIONS Serum CysC levels are associated with renal prognosis in IgAN patients, and high serum CysC an independent risk factor for poor renal prognosis.
Humans ; Glomerulonephritis, IGA/diagnosis* ; Cystatin C/blood* ; Prognosis ; Risk Factors ; Retrospective Studies ; Glomerular Filtration Rate ; Kidney Failure, Chronic ; Male ; Female ; Adult ; Nomograms ; Middle Aged

Objective:To explore the effect of CO2 fractional laser combined with glucocorticoid(GC)on T follicular helper cell(Tfh)and B cell subsets in patients with advanced vitiligo(VL).Methods:Patients with advanced VL(128 cases)who were treated in Affiliated Hospital of Hebei University of Engineering from August 2019 to March 2022 were selected as research objects,and divided into group A(64 cases,CO2 fractional laser combined with GC)and group B(64 cases,CO2 fractional laser)according to different treatment methods,clinical efficacy and safety of the two groups were compared.Another healthy subjects(64 cases)were selected as control group.Collected clinical data of the three groups of subjects for comparative analysis.Randomized walking model was used to evaluate the effect of CO2 fractional laser combined with GC on immune function and inflammatory response in patients with advanced VL.Results:Compared with group B,group A had a higher clinical total effective rate(P<0.05)and a lower probability of adverse reactions(P<0.05).After treatment,compared with control group,proportion of Tfh2 and Tfh17 in group A had no significant difference(P>0.05),while proportion of Tfh2 and Tfh17 in group B still had significant difference(P<0.05);compared with group B,proportion of Tfh2 in group A after treatment was higher(P<0.05),while proportion of Tfh17 type was lower(P<0.05).After treat-ment,compared with control group,proportion of memory transformed B cell in group B was still significantly different(P<0.05).After treatment,compared with control group,levels of IgA,IgE and IgM in group B were still significantly different(P<0.05);compared with group B,level of IgM in group A was higher after treatment(P<0.05).After treatment,compared with control group,levels of IL-21 and IL-1β in group B were still significantly different(P<0.05);compared with group B,level of IL-10 in group A after treatment was higher(P<0.05),while levels of IL-21 and IL-1β were lower(P<0.05).Evaluation results of random walking model showed that the improvement of immune function and inflammatory reaction in group A was better than that in group B.Conclusion:CO2 fractional laser combined with GC can improve the immune function and inflammatory reaction of patients with advanced VL better after treatment,and the probability of adverse reactions is lower.

Objective:To establish collection methods and laboratory testing methods for qualitative and quantitative analysis of 9 typical active pharmaceutical ingredient in the workplace air.Methods:In December 2021, a mixed solution of nine analytes was prepared and then dispersed in aerosol state to simulate sampling. Glass fiber filter membrane was selected as air collector and collected active pharmaceutical ingredient in the air at a rate of 2.0 L/min for 15 minutes. Then, the obtained filter membrane samples were eluted with 25%ACN/75%MeOH. Finally, the eluent was qualitatively and quantitatively analyzed with liquid chromatography-triple quadrupole mass spectrometer.Results:This method could effectively collect active pharmaceutical ingredient in the air, with an average sampling efficiency of more than 98.5%. The linear correlation coefficient r was greater than 0.9990. The lower limit of quantification for each analyte ranged from 0.6~500.0 ng/ml, and the average recovery rate ranged from 97.6%~102.5%.Conclusion:This method could simultaneously collect 9 active pharmaceutical ingredient in the workplace air, and could provide accurate qualitative and quantitative analysis in subsequent laboratory tests.

Objective:To analyze the association between visceral fat area (VFA) and fatty liver based on quantitative CT (QCT) in people receiving health examination with normal body mass index (BMI).Methods:A cross-sectional study. A total of 1 305 physical examiners who underwent chest CT and QCT examination in the Department of Health Management of Henan Provincial People′s Hospital from January to December 2021 were retrospectively selected as subjects. The physical components at the central level of the lumbar two cone were measured with QCT, including subcutaneous fat area (SFA), VFA and liver fat content (LFC). And the metabolic indexes, such as blood lipids and blood glucose, were collected. The t-test and χ2 test were used to analyze the correlation between the detection rate of fatty live and LFCr and age and gender. According to level of VFA (<100 cm 2, 100-150 cm 2 and≥150 cm 2), the subjects were divided into three groups, and one-way ANOVA and χ2 test were used in comparison between groups. Multiple linear regression was used to analyze the correlation between VFA and metabolic indexes and LFC. Results:Of the 1 305 subjects, there were 634 males and 671 females. The detection rate of fatty liver in normal BMI population was 65.67%, and it was 72.71% and 59.02% respectively in men and women ( χ2=27.12, P<0.001), and the detection rate of fatty liver and LFC increased with age (both P<0.05). With the increase of VFA, the age, BMI, SFA, LFC, total cholesterol (TC), triacylglycerol (TG), low-density lipoprotein cholesterol (LDL-C), fasting blood glucose (FBG), alanine aminotransferase (ALT), blood uric acid and prevalence of fatty liver increased (all P<0.05), and the low-density lipoprotein cholesterol (HDL-C) decreased ( P<0.001). Multiple linear regression analysis showed that after adjustment for age factors, regardless of male or female, LFC was independently positively related with VFA, BMI, and ALT (male β=0.206, 0.145, 0.174, female β=0.194, 0.150, 0.184; all P<0.05). FBG was positively correlated with male independently ( β=0.134; P<0.001). The indicators related to female independently were TC, TG, and blood uric acid ( β=-0.121, 0.145, 0.141, all P<0.05) Conclusion:In the population receiving health examination with normal BMI, the VFA measured by QCT technique is closely related to fatty liver.

Objective To explore the value of serum insulin-like growth factor-1 (IGF-1) levels in diagnosis and treatment of primary hyperthyroidism. Methods 150 patients with primary hyperthyroidism (hyperthyroidism group) and 85 patients with hypothyroidism (hypothyroidism group) were selected as study subjects. During the same period, 60 healthy individuals were selected as control group. The levels of serum IGF-1, thyroid peroxidase antibody (TPOAb), thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4), triiodothyronine (T3) and total thyroxine (T4) were measured in the three groups. The serum visfatin levels in the three groups were detected using an enzyme-linked immunosorbent assay. Multifactor Logistic regression analysis was used to screen for risk factors of primary hyperthyroidism. Results The levels of IGF-1, FT3, FT4, T3 and T4 in the hyperthyroidism group were significantly higher than those in the hypothyroidism and control groups, while TSH levels were significantly lower (P < 0.05). TPOAb and visfatin levels in the hyperthyroidism group were significantly higher than those in the control group, but significantly lower than those in the hypothyroidism group (P < 0.05). The serum IGF-1 levels in patients with primary hyperthyroidism before and after 3 months of treatment were (60.11±7.23) and (30.23± 3.22) μg/L, respectively, showing a statistically significant difference (t=8.436, P < 0.001). Serum FT3, FT4, T3, T4, TPOAb, IGF-1 and visfatin levels increased and serum TSH levels decreased as risk factors for primary hyperthyroidism (P < 0.05). Conclusion The level of serum IGF-1 is closely related to thyroid function and may serve as an important reference indicator for the diagnosis and monitoring of the efficacy of primary hyperthyroidism treatment.