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Objective To investigate the value of serum IgG4 level in the differential diagnosis of IgG4-related pancreatic and hepatobiliary disease (IgG4-PHD) and non-IgG4-related disease (non-IgG4-RD). Methods Clinical data were collected from 491 patients who were hospitalized and 50 individuals who underwent physical examination in Huaian No. 1 People's Hospital Affiliated to Nanjing Medical University, Subei People's Hospital, and The First Affiliated Hospital of Xuzhou Medical University from August 2014 to April 2021. The 491 patients were divided into IgG4-PHD group with 20 patients, non-IgG4-RD autoimmune disease group with 431 patients (104 patients with systemic lupus erythematosus, 79 with rheumatoid arthritis, 174 with Sjogren's syndrome, 16 with ankylosing spondylitis, 11 with scleroderma, 4 with adult-onset Still's disease, 30 with myositis, 3 with psoriasis, and 10 with primary sclerosing cholangitis), and malignant pancreatic/hepatobiliary tumor group with 40 patients, and the 50 individuals undergoing physical examination were enrolled as healthy control group. Scattering immunoturbidimetric assay was used to measure serum IgG4 concentration. The two-sample Mann-Whitney U test was used for comparison of normally distributed continuous data between groups, and the Fisher's exact test was used for comparison of categorical data between groups. The receiver operating characteristic (ROC) curve was plotted to determine the optimal cut-off value of serum IgG4 in the diagnosis of IgG4-PHD. Results The IgG4-PHD group had a significantly higher serum IgG4 level than the non-IgG4-RD autoimmune disease groups, the malignant pancreatic/hepatobiliary tumor group, and the healthy control group (all P < 0.05), and the Sjogren's syndrome group had a significantly lower serum IgG4 level than the healthy control group ( Z =2.958, P < 0.05). With serum IgG4 ≥1.35 g/L and IgG4 ≥2.01 g/L as the cut-off values, the IgG4-PHD group had a significantly higher positive rate than the non-IgG4-RD autoimmune disease group and the healthy control group (all P < 0.05). The ROC curve analysis showed that IgG4 had an area under the ROC curve of 0.980 in the differential diagnosis of IgG4-PHD and non-IgG4-RD autoimmune diseases, with a sensitivity of 100.00% and a specificity of 94.00% at the optimal cut-off value of 2.21 g/L. Conclusion Serum IgG4 level may also increase in non-IgG4-RD autoimmune diseases, while the cut-off value of 2.21 g/L can improve the differential diagnosis of IgG4-PHD and non-IgG4-RD autoimmune diseases, which requires further verification in clinical practice.
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Objective:To investigate the clinical features and pathogenic genes of a family with osteosclerosis.Methods:Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL.Results:Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein.Conclusion:The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.
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Objective@#To investigate the clinical features and pathogenic genes of a family with osteosclerosis.@*Methods@#Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL.@*Results@#Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein.@*Conclusion@#The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.
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Objective To study the infection rate of fusobacterium nucleatum cancer re appeared in patients with colorectal cancer before and after radiotherapy,and the changes after cancer recarrence.Methods A total of 20 persons receiving physical examination were recruited in the control group and collected the stool specimens,and 40 colorectal cancer patients were selected in the study group.All of the subjects in the study group were collected stool specimens before operation 3 days and after operation 5 day,after radiation therapy 7 days and 30 days.The patients were followed-up 1 year.The bacterial fluid was collected by filtration,and real-time fluorescence quantitative PCR was used to detect the expression of fusobacterium nucleatum gene in feces.Results The positive rate of fecal fusobacterium fusiformis was 30% in the study group and 5% in the control group.The gene relative expression of 12 colorectal cancer patients before operation 3 days and after operation 5 days,after radiation therapy 7 days and 30 days were 5.20±0.34,8.50±0.45,1.20±0.22,0.20±0.15.The fusobacterium nucleatum gene expression of 12 patients with positive fusobacterium after operation 5 days was significantly increased compared with that before operation 3 days(t=10.419,P=0.001),which after radiation therapy 7 days and 30 days was significant lower than that before operation 3 days(t=12.728,P=0.001;t=25.889,P=0.001).Six patients recurred among 1 year,the fusobacterium nucleatum gene expression was 7.2±0.56,which was significant higher than that after radiation therapy 7 days.Conclusion The infection of fusobacterium nucleatum might be a risk factor for colorectal cancer,and the gene relative expression might be an early warning indicator of recurrence.
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Objective To investigate the influence of sputum specimens pre-processing on the detection result and its clinical sig-nificance .Methods The sputum samples of 124 inpatients in this hospital from February 2016 to April 2016 were selected .The sputum color ,character ,Gram staining microcopic examinationof sputum smear were observed by adopting the naked-eye observa-tion .Its influence on the sputum specimen isolation results was analyzed .Results Among 124 sputum specimens ,90 cases were qualified ,while 34cases were unqualified ;the qualification rate of colorlesssputum specimens was 30% ,which was lower than 94 .7% of yellow sputum specimens ,100% of rusty sputum specimens ,100% of red sputum specimens and 87 .5% of white sputum specimens ;the qualification rate of frothy or watery sputum specimens was 22 .2% ,which was lower than that of other character sputum specimens ,such as purulent sputum specimens (96 .2% ) ,bloody sputum specimens (100% )and mucous sputum specimens (83 .3% );the cultured results of 34 unqualified specimens were the oral and throat normal flora ,which all had the contaminating bacterial growth ;among 90 qualified specimens ,58 specimens showed pure culture or advantage growth ,and 32 specimens showed contaminating bacterial growth .Conclusion The pre-processing of sputum specimens is an efficient solution for improving the accu-racy of sputum specimens detection results ,and has the important clinical significance .
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Molecular biomarkers could change associated with disease processes.So,the detection of metabolic markers becomes the key to early diagnosis,treatment and prognosis evaluation disease.But the detection of abundant metabolites in body becomes a crux of laboratory medicine at the same time.The recent advances in nuclear magnetic resonance (NMR) spectroscopy reveal the unequivocal value of NMR in metabolomics platforms.NMR spectroscopy has inherently distinct capabilities to identify and quantitatively measure a large amount of low concentration metabolites in a non-destructive manner.The implementation of NMR technology into a multidisciplinary approach to biomarker identification will improve the auxiliary diagnostic ability of laboratory medicine for the disease.
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Objective To investigate the association between the polymorphism of C-reactive protein (CRP) gene and plasma level of hs-CRP in patients with ischemic stroke.Methods 548 patients with acute ischemic stroke were considered to be the case group and 993 age-matched healthy controls were randomly selected from community-based population.Three tagging SNPs of the CRP gene (rs876537,rs3093059,and rs3091244) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).The plasma hs CRP levels were measured by routine method and multiple logistic regression was applied to evaluate genetic effect on plasma hs-CRP level.Results (1) The hs-CRP concentration and elevation (≥3.0 mg/L) proportion were significantly higher in case group than in control group [(3.534 ± 3.484) mg/L vs.(1.957 ± 2.344) mg/L,43.1％ vs.16.6％,t=10.74 and 23.45,both P＜0.05].(2) Compared with controls,the case group had higher conventional vascular risks,including higher blood pressure [SBP:(145.33 ± 22.11) vs.(134.92±19.48) mmHg,t=14.30,P＜0.05; DBP:(88.14±12.72) vs.(81.42± 12.44) mmHg,t=12.44,P＜0.05],higher low-density lipoprotein cholesterol [(2.714±0.904)vs.(2.286 ± 0.704) mmol/L,t =9.72,P＜ 0.05],and lower concentration of high-density lipoproteincholesterol [(1.213±0.317) vs.(1.438±0.262) /L,t=-12.89,P＜0.05].(3) Both rs876537 and rs3093059 polymorphism of CRP gene showed statistical associations with elevation of plasma hs-CRP level in case group.After adjusted for covariates including age,sex,hypertension,type 2 diabetes and other factors,additive model and dominant model of rs3093059 showed that the adjusted ORs (95 ％ CI) were 1.548 (1.103-2.171),1.562 (1.070-2.281) respectively (both P＜ 0.05).And ORs (95％ CI) of additive model and dominant model of rs876537 were 1.368 (1.067-1.753),1.719 (I.190-2.482) respectively after adjusted for covariates (both P ＜ 0.05).Conclusions Plasma hs-CRP concentration is significantly higher in ischemic stroke patients than in healthy population.The polymorphism of rs876537 and rs3093059 of CRP gene has association with elevation of plasma hs-CRP level in ischemic stroke patients.
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Objective To investigate the association of C-reactive protein (CRP) gene polymorphisms and plasma hs-CRP level,and effect on the genetic susceptibility of ischemic stroke (IS).Methods A case-control study was conducted and 548 patients with acute ischemic stroke and 993 agematched controls from community-based population were included in this study.Epidemiological questionnaires were managed to collect for demographic information.Blood pressure was measured and blood glucose,triacylglycerol,cholesterol,and high sensitivity C-reaction protein (hs-CRP) were detected.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for genotyping of CRP gene in all participants.Results The levels of plasma hs-CRP and the proportion of elevated plasma hs-CRP (≥3.0 mg/L) in the ischemic stroke patients (3.534 ± 3.484) mg/L (43.1％) were significantly higher than those of controls (1.957 ±2.344) mg/L (16.6％),t =9.475,P ＜ 0.01,x2 =128.326,P ＜ 0.01.The results of association analysis indicated that rs3093059 and rs3091244 of CPR gene presented statistical associations with ischemic stroke.After correction for confounding factors,ORs (95％ CI) of additive model and dominant model of rs3093059 were 0.697 (0.528-0.921),0.671 (0.487-0.923) respectively.ORs 95％ CI) of dominant model of rs3091244 was 0.728 (0.536-0.988).Further analysis indicated the polymorphism of rs876537,rs3093059,rs3091244 of CPR genotyping were significantly associated with plasma hs-CRP elevation (≥ 3.0 mg/L) both in ischemic stroke patients and in controls (P ＜0.05).Conclusion The CRP genetic polymorphisms were negatively associated with ischemic stroke,and positively corrleted with plasma hs-CRP elevation.However,plasma hs-CPP was positively correlated with ischemic stroke.These results suggested that the plasma hs-CRP levels might be accompanied by ischemic stroke.
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1H-nuclear magnetic resonance spectroscopy ( 1H-NMRs ) analysis was performed on serum specimens obtained from 60 preoperative patients with esophageal squamous cell carcinoma ( ESCC )and 30 healthy controls, and supernatant from 2 ESCC cell lines Eca-109 and TE-13.The characteristic fingerprint was profiled with 1H-NMRs data in healthy controls.Serum 1H-NMRs from 60 preoperative patients with ESCC were measured and compared with the 1H-NMRs from 30 healthy controls.We found some specific peaks in 1H-NMRs profile of serum specimens from ESCC patients, especially at 1.0-1.2 mg/L and 3.4 - 3.6 mg/L.The results were verified by the 1H-NMRs measurement on the supernatant from 2 ESCC cell lines Eca-109 and TE-3.Our results suggest that this two absorption peaks may be characteristic for ESCC and 1H-NMRs analysis on serum specimens may provide information for early diagnosis of ESCC.