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Objective:To investigate the serum metabolites and their metabolic characteristics of patients with optic neuritis.Methods:Case-control study. From January 2021 to January 2022, 9 serum specimens of diagnosed patients with optic neuritis were collected in Department of Neurology from Beijing Tongren Hospital and 9 healthy subjects as the control. Among them, there were 5 females and 4 males in the optic neuritis group, aged (35.8±12.9) years; there were 5 females and 4 males in the healthy control group, aged (32.6±8.6) years. Liquid chromatography-mass spectrometry was used to detect metabolites in serum of healthy control and patients with optic neuritis. The principal component analysis (PCA) and orthogonal partial least-squares discriminination analysis (OPLS-DA) were used to analyze the differential metabolites . The variable importance projection value of OPLS-DA model and the P value of t-test was applied to find the different metabolites. Results:Thirty-seven metabolites were finally identified from serum samples. Four metabolites with variable important in projection (VIP) values larger than 1 and P values less than 0.05 were teased out, three metabolites, LysoPC (P-16∶0), LysoPC (16∶0), LysoPC (P-18∶0) belonge to phospholipid and one metabolite was L-Threonine, they were all down-regulated. The area under curve were 0.951, 0.889, 0.963 and 0.944, respectively. Conclusion:Based on metabonomic analysis, some metabolites in serum have changed, which can provide basis for biomarkers screening of optic neuritis.
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Objective To explore the value of MRI in assessing regional invasion and neural spread of sinonasal and nasopharyngeal adenoid cystic carcinoma(ACC).Methods A retrospective collection of MRI and clinical data was analyzed in 22 patients with sinonasal and nasopharyngeal ACC confirmed by pathology.Results A total of 22 patients were included in the study.Invasion of the pterygopalatine fossa was observed in 15 cases,involvement of the masticatory muscles in 13 cases,skull base involvement in 13 cases,infiltration of the cavernous sinus in 9 cases,involvement of the infraorbital fissure in 9 cases,orbital involvement in 5 cases,and intracranial involvement in 6 cases.Only 3 patients presented with cranial nerve symptoms.MRI revealed thickening and enhancement of cranial nerves in 10 cases,with involvement of the maxillary and mandibular(V2,V3)branches of the trigeminal nerve(V)in 9 cases,and muscle denervation caused by nerve damage in 6 cases.Among the 12 patients who underwent surgery,9 cases were confirmed to have neural invasion by pathology,with MRI showing cranial nerve alterations in 7 cases of them,one case showed tumor involvement from the pterygopalatine fossa and medial pterygoid muscle to the cavernous sinus and Meckel cavity,while the other case showed tumor involvement from the pterygopalatine fossa to the sphenopalatine foramen.During the follow-up after treatment,4 of 11 patients experienced recurrence,all of which were accompanied by lung metastasis and pre-treatment neural invasion.Conclusion Sinonasal and nasopharyngeal ACC is characterized by a tendency for neural spread,extensive local invasion,and a high risk of recurrence.MRI is helpful in determining the extent of invasion and neural spread.
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Objective:Patient risk-based statistical quality control (SQC) program was designed for 9 specific protein projects using Westgard sigma rules with run length.Methods:The cumulative coefficient of variation of immunoglobulin (Ig)G, IgA, IgM, C3, C4, rheumatoid factor (RF), antistreptolysin O (ASO), transferrin (TRF) and prealbumin (PA) from the laboratory department of Beijing Tongren Hospital between December 2018 to May 2019 were used as the estimated value of imprecision. The mean of the absolute value of the percentage difference of 10 batches in the laboratory, which was derived from the results of participating the external quality assessment (EQA), was used as the estimated value of bias. The National Center for Clinical Laboratories EQA evaluation criteria was used as an allowable total error (TEa), and the sigma value of each project (σ) was calculated. Westgard Sigma rule with run length was used to design appropriate SQC program for each project, including quality control rules, number of control measurements (N) and frequency of quality control.Results:The sigma value was larger than 6 for SQC procedure of IgG, IgA, IgM, C4 and TRF. SQC could be established with the use of 1 3s rule, number of control measurements (N)=2, number of runs (R)=1, and a run length of 1 000 patient samples. Combined with the average daily workload, internal quality control could be conducted once every 10 days for IgG, IgA, IgM and C4, every 50 days for TRF. The σ was 5.86 for C3, SQC program could be established with run length of 450 using 1 3S/2 2S/R 4s rule (N=2, R=1), combined with average daily workload, internal quality control could be conducted every 4.5 days. σ was between 3 and 4 for RF, ASO and PA. With the use of 1 3S/2 2S/R 4s/4 1s/6 X rule (N=6, R=1), SQC program with a run length of 45 and higher frequency internal quality control activities. Conclusion:It is feasible to use Westgard sigma rules with run length for the laboratories design of personalized risk-based SQC procedures, the method is very simple and intuitive. This tool is valued to be recommended to be actively applied by all clinical laboratories.
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Objective:An on-line calculator for calculating the frequency of internal quality control is recommended to select quality control procedures and appropriate run lengths for general chemistry in Beijing Tongren Hospital.Methods:The cumulative controlled coefficient of variations of 10 general chemical tests in the laboratory department of Beijing Tongren Hospital for 19 consecutive months were used as the imprecision. The mean value of absolute percentage difference between the quality control results and the target value of 15 batches of 10 tests in the external quality assessment (EQA) general chemistry in 2018 was used to estimate the Bias of each test. Use the allowable range of EQA target value of the National Center for Clinical Laboratories in 2018 to estimate the total allowable error (TEa) of each test. The data were input into the Westgard internal quality control frequency calculator, and 10 different candidate statistical quality control (SQC) procedures and corresponding run lengths were calculated online, including single rule and multiple rule, number of quality control concentration levels (or test projects) ranging from 1 to 4. The SQC program with relatively simple quality control rules and long run length was selected according to the actual situation of the laboratory.Results:The 1 3s, N=3 or 1 3s, N=2 rule could be adopted for ALP and CR, and the corresponding run length was 1000. TBIL and ALT projects can adopt 1 3s, N=3 or 1 3s, N=2 rule and its corresponding run length; UA can use multiple rules 1 3S/2 2S/R 4s/4 1s, N=4 (run length 395) or 1 3S/(2of3) 2S/R 4s/3 1s N=3 (run length 259); CHO, AST and AMY can adopt two multiple rules 1 3S/2 2S/R 4s/4 1s, N=4 or 1 3S/(2of3) 2S/R 4s/3 1s, N=3 and their corresponding run length. GGT project can adopt 1 3S/2 2S/R 4s/4 1S, N=4 rule (run length 50); The run length of 10 candidate quality control rules calculated by LDH was too short, the detection performance should be improved preferentially, and the quality control rules and corresponding run length were not recommended for the time being. Conclusion:The Westgard internal quality control frequency online calculator is easy to operate. Clinical laboratories can use this calculator to select SQC program and appropriate run length. It is recommended that laboratories adjust SQC program according to the current actual situation.
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OBJECTIVE@#To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).@*METHODS@#We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS.@*RESULTS@#We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10@*CONCLUSIONS@#Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
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Humans , Amyotrophic Lateral Sclerosis/genetics , Asian People , Heat-Shock Proteins , Heterozygote , High-Throughput Nucleotide Sequencing , Molecular Chaperones , PhenotypeABSTRACT
Objective:To explore the influencing factors of false-positive serological reaction of syphilis.Methods:A total of 166 patients with false-positive serological reaction of syphilis (false-positive group), 145 patients diagnosed with early syphilis without treatment (positive control group) and 124 persons undergoing entry physical examination (negative control group) were included from January 2017 to February 2020 in Beijing Tongren Hospital, Capital Medical University. The gender, age and underlying diseases of the three groups were compared. Logistic regression was used to analyze the influencing factors of false-positive serological reaction of syphilis. The efficacies of chemiluminescence immunoassay (CLIA) and toluidine red unheated serum test (TRUST) were compared. Paired t test or chi-square test was used for statistical analysis. Results:In the false-positive group (166 cases), the age of 117 cases were more than 50 years old and 49 cases <50 years old. There were significant differences in age ((53.1±13.8) vs (24.7±2.8), t=22.56, P<0.01), autoimmune disease (36.7%(61/166) vs 6.5%(8/124), χ2=35.93, P<0.01), hepatitis (9.6%(16/166) vs 3.2%(4/124), χ2=4.92, P=0.026) and tumor (6.6%(11/166) vs 0.8%(1/124), χ2=4.68, P=0.030) between the false-positive group and the negative control group. There were significant differences in gender (there were 91(54.8%) males and 75(45.2%) females in the false-positive group, and 103(71.0%) males and 42(29.0%) females in the positive control group, χ2=8.67, P=0.003), age ((53.1±13.8) vs (34.4±12.9), t=20.13, P<0.01) and autoimmune disease (36.7%(61/166) vs 6.9%(10/145), χ2=39.14, P<0.01) between the false-positive group and the positive control group. Multivariate logistic regression analysis showed that gender (odds ratio ( OR)=2.692, 95% confidence interval ( CI) 1.504-4.816, P=0.001), age ≥50 years old ( OR=30.512, 95% CI 15.959-58.335, P<0.01), autoimmune disease ( OR=2.677, 95% CI 1.258-5.695, P=0.011) and hepatitis ( OR=4.408, 95% CI 1.799-10.799, P=0.001) were the influencing factors of false-positive serological reaction of syphilis. In the false-positive group, the positive rate of TRUST was 84.9% (141/166), which was higher than that of CLIA (23.5%(39/166)). The difference was statistically significant ( χ2=126.25, P<0.01). CLIA was 1.0-10.0 cut off index (COI) in 36 patients, and >10.0 COI in three patients.The difference was statistically significant ( χ2=52.51, P<0.01). The titers were ≤1∶4 in 139 patients and≥1∶8 in two patients with TRUST positive.The difference was statistically significant ( χ2=262.35, P<0.01). The sensitivity and specificity of CLIA were 95.2% and 96.0%, respectively, and those of TRUST were 77.2% and 91.1%, respectively. Conclusions:The influencing factors of false-positive serological reaction of syphilis include patients age ≥50 years and with autoimmune disease or hepatitis. The false-positive rate of TRUST is significantly higher than CLIA.
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Phosphatidylinositol protein 3 (Glypican-3, GPC3) is a cell-surface heparan sulfate proteoglycan that belongs to the glycine related global membrane proteoglycan relatives.Many studies have shown that it is of great significance in the occurrence, diagnosis, treatment and prognosis of hepatocellular carcinoma (HCC).This paper reviews the recent studies on GPC3.
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The co-existence of different neurodegenerative diseases in the same case has received increasing attention and reports. A rare comorbidity of amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) in a sporadic patient was reported. The patient presented with pseudobulbar palsy, freezing gait, and developed muscle weakness and fasciculation. Brain magnetic resonance imaging, positron emission computed tomography and whole exomesequencing showed no evident abnormality. The patient had no response towards the treatment of levodopa, and received supportive treatment and gastrostomy. He is in stable condition by now. Totally 23 cases of ALS with PSP were reviewed, and found that the clinical manifestations were related to the main distribution of pathological inclusion bodies and the location of neuron loss, and the deposition of the same pathological protein in multiple systems may lead to the coexistence of different neurodegenerative diseases. Traditional treatment is generally ineffective, thus support treatment is pivotal. The genetic background and pathogenesis of this comorbidity should be studied in the future.
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Phosphatidylinositol protein 3 (Glypican-3, GPC3) is a cell-surface heparan sulfate proteoglycan that belongs to the glycine related global membrane proteoglycan relatives.Many studies have shown that it is of great significance in the occurrence, diagnosis, treatment and prognosis of hepatocellular carcinoma (HCC).This paper reviews the recent studies on GPC3.
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Objective:To investigate the relationship between the levels of vascular endothelial growth factor (VEGF) and homocysteine (Hcy) in serum and diabetic retinopathy (DR) and diabetic nephropathy (DN).Methods:A total of 211 patients with type 2 diabetes mellitus (T2DM) who were treated in Beijing Tongren Hospital from February to July 2019 were selected as the case group, including 72 patients with T2DM (T2DM group), 45 patients with DR (DR group), 49 patients with DN (DN group), 45 patients with DR and DN (DR+DN group); 76 healthy people were selected as the control group. The levels of serum VEGF and Hcy were measured in all subjects. The course of diabetes, body mass index, waist to hip ratio, fasting blood glucose, glycosylated hemoglobin (HbA 1c), triglyceride(TG), total cholesterol(TC), low density lipoprotein-cholesterol(LDL-C), high density lipoprotein-cholesterol(HDL-C), urinary microalbumin/creatinine (ACR), urinary immunoglobulin G/creatinine (IGU/CR), urinary transferrin/creatinine (TRU/CR), urinary α1-microglobulin/creatinine (α1/CR), serum urea nitrogen, serum creatinine, hypersensitive C-reactive protein (hCRP) and erythrocyte sedimentation rate (ESR) were also observed in the case group. Results:The VEGF level of the T2DM group, DR group, DN group and DR+DN group was 90.02(61.24, 118.52), 124.38(81.50, 170.28), 133.19(78.84, 168.49), 124.08(79.82, 187.33)ng/ml respectively, which were significantly higher than that of the control group 50.31(21.10,67.74)ng/ml(all P<0.05); Compared with the T2DM group, the VEGF level in the DR group, DN group and DR+DN group increased significantly (all P<0.05). The level of Hcy in the DN group and DR+DN group [(12.58±3.66), (11.91±2.42) μmol/L, respectively] was higher than that in the control group [(10.44±2.09) μ mol/L], and the difference was statistically significant ( P<0.05). There was no statistically significant difference in VEGF and Hcy levels in different stages of DR ( U=264.00, t=-0.43, P>0.05). The Hcy level of DN patients in the group of massive proteinuria was higher than that in the group of microalbuminuria [(15.00±1.87) vs (11.79±3.76) μmol/L, t=-2.82, P=0.01].VEGF was positively correlated with ACR, TRU/CR and IGU/CR ( r=0.23, 0.19, 0.17, all P<0.05),while Hcy was positively correlated with serum urea nitrogen, serum creatinine, ACR, TRU/CR, IGU/CR and α 1/CR ( r=0.35, 0.44, 0.22, 0.19, 0.21, 0.29, all P<0.05). Conclusions:The level of VEGF in the serum of DR and DN patients increased, suggesting that VEGF may play a role in the development of DR and DN, but there was no significant difference in the level of VEGF in patients with different stages of DR and different urinary albumin excretion rate of DN.The level of serum Hcy in DN patients increased, and that was higher in massive proteinuria group, suggesting that serum Hcy may have clinical significance in the diagnosis and monitoring of DN.