Objective To research the serum urea nitrogen (BUN),creatinine (Cr),urinary inhibition C (CysC) and retinol binding protein (RBP) four biochemical indicators of joint detection on the early diagnostic value of lupus nephritis (LN).Methods According to the American Rheumatology Association (ACR) 2012 revision of the diagnostic criteria,collected 177 LN patients with kidney disease from January 2011 to April 2016 in Shaanxi Provincial People's Hospital,at the same time,choose 167 cases of healthy physical examination as normal control group.With Hitachi 7170A a fully automated analy zer on two groups of serum BUN,Cr,CysC and concentration of RBP for testing,the data obtained by SPSS17.0 statistical software for statistical analysis.Results LN patient group compared with healthy controls,the serum BUN (6.67 ± 1.43 mmol/L vs 6.57±1.16 mmol/L),Cr (96.9±10.1 μmol/L vs 92.6±13.2 μmol/L),CysC (1.7±0.5 mg/L vs 0.75±0.15 mg/L),RBP (180.5±8.28 mg/L vs 42.6±9.6 mg/L) concentrations were higher,and serum CysC,RBP higher level com pared with healthy control group difference was statistically significant (t=8.145,21.594,all P＜0.05).Single parameter detected abnormal rate in terms of LN patients serum BUN,Cr,CysC and RBP abnormal rates were 28.3％,29.4％,68.4 ％,65.0 ％,four indicators combined detection of abnormal rate was 85.3 ％,significantly higher than the single parameter test (x2 =35.973～168.742,all P＜0.01).Conclusion Conbined detection of BUN,Cr,CysC and RBP four early diagnosis of renal damage in patients with lupus nephritis had important clinical value.

Objective To study the N terminal pro brain natriuretic peptide (NT-proBNP)in serum of hypertension patients. Methods 152 patients with hypertension were included in this study.According to the different degree and development of hypertension,152 patients were divided into three different grade group of hypertension:first grade of hypertension group (30 patients),second grade of hypertension group (36 patients)and third grade of hypertension group (86 patients).And the 86 patients were divided into hypertension group (40 patients)and hypertension with diabetes group (46 patients)re-spectively,comparaed with the level of NT-proBNP in serum of different hypertension grade groups.Results The levels of the NT-proBNP in serum were 68±44,122±31 and 834±309 pg/ml of first grade of hypertension group,second grade of hypertension group and third grade of hypertension group,respectively.The level of the NT-proBNP was gradually increased with grade of hypertension (t=2.455,3.561,P<0.01).The level of the NT-proBNP (1 178±864 pg/ml)of hypertension with diabetes group was significantly higher than hypertension group (599±411 pg/ml)(t=3.785,P<0.01).Conclusion The level of NT-proBNP can obj ectively reflect the grade of the disease in patients with hypertension.it is a certain signifi-cance guiding for monitoring the clinical treatment of the disease.

OBJECTIVE: To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China. METHODS: The clinical features and variants of the ATP7B gene among 75 children with hepatic Wilson' s disease were retrospectively analyzed. RESULTS: Among the 75 cases, 4 were presymptomatic, 59 had isolated transaminase elevation, 12 had acute and/or chronic liver diseases. Nine children were found to harbor homozygous variants, 64 harbored compound heterozygous variants, and two only had heterozygous variants of the ATP7B gene. In total 49 variants were detected, with common variants including c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (Pro992Leu), which yielded allelic frequencies of 28.7%, 12.7% and 9.3%, respectively. Six novel variants were detected, which included c.1908dupC (p.Asn637Glnfs*118), c.4179_4180insC (p.Pro1394Profs*15), c.1604A>G (p.Glu535Gly), c.2278C>T (p.Pro760Ser), c.3008C>A (p.Ala1003Glu) and c.3532A>C (p.Thr1178Pro). Except for c.1604A>G (p.Glu535Gly), the remainder five were all predicted to be likely pathogenic. No significant correlation was found between genotype and phenotype among the patients. CONCLUSION The common mutation types of the ATP7B gene among patients with hepatic Wilson disease in Northwestern China are c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (p.Pro992Leu), there is no significant correlation between their genotypes and phenotypes.
Copper-Transporting ATPases/genetics* ; Genotype ; Hepatolenticular Degeneration/genetics* ; Humans ; Mutation ; Phenotype ; Retrospective Studies

Objective: To analyze the genetic characteristics of a five generations pedigree with homozygous familial hypercholesterolemia (HoFH). Methods: Prospective study. Twenty family members included a proband diagnosed as familial hyperlipidemia at the cardiology Department of Xi′an Children′s Hospital in October 2018 were research object. Clinical data were collected. Genome DNAs were extracted. Whole exons sequencing was performed on the proband using target capture next generation sequencing. Candidate gene mutation sites identified by bioinformatics were verified by Sanger sequencing in the family members. The genotype-phenotype correlation of the pedigree was analyzed between heterozygous mutation carriers and non-carriers. Results: The proband was a 7-years and 10-month-old boy. He was born with a roundgreen bean size yellow skin protuberance in the skin of the coccyx. Since the age of 3-4 years old, xanthoma-like lesions with a diameter of 0.5-1.5 cm gradually appeared in the skin of bilateral elbow joints, knee joints and Achilles tendon. The height, weight and intellectual development of the child were the same as those of normal children at the same age. No similar xanthoma-like lesion was found in the other family members. The proband′s total cholesterol (TC) reached 18.16-21.24 mmol/L, and his low density lipoproteincholesterol (LDL-C) was 14.08-15.51 mmol/L. Carotid ultrasonography showed diffuse sclerotic plaques in bilateral carotid and vertebral arteries, and color Doppler echocardiography revealed aortic valve thickening and calcification. Gene testing identified that the proband carried a homozygous mutation C. 418G>A (p. E140K) in LDLR gene inherited from his parents who had a consanguineous marriage and carried a heterozygous mutation of LDLR-E140K, respectively.The TC, LDL-C and apolipoproteinB (ApoB) of LDLR-E140K gene heterozygous carriers ((8.40±0.13), (6.79±0.01) and (1.95±0.05) mmol/L, respectively) were significantly higher than those of non-carriers ((4.59±0.28), (3.35±0.39) and (0.86±0.10) mmol/L, t=7.269, 4.595, 6.311, respectively, P<0.05). Conclusions LDLR-E140K gene homozygous mutation is first reported to be associated with most severe phenotype HoFH. The genotype-phenotype analysis of the pedigree shows that the clinical phenotype of the proband with homozygous mutation is the most serious, and all the heterozygous mutation carriers present with hypercholesterolemia phenotype. The investigation confirms that LDLR-E140K is the pathogenic variation of familial hyperlipidemia.

Objective: To observe the expressional changes in Notch signaling pathway and toll-like receptor 4 (TLR4) and their interactions on the functions of CD14⁺ monocytes in chronic hepatitis C patients. Methods: A total of 24 treatment-naïve chronic hepatitis C cases and 10 healthy individuals, who visited Shaanxi Provincial People's Hospital from August to October 2017, were enrolled. Selected CD14⁺ monocytes were stimulated by the Notch signaling pathway inhibitor DAPT or transfected with TLR4 siRNA, and the levels of Notch1, Notch2, Hes1 and Hes5 mRNA were detected by real-time quantitative PCR. TLR4 protein levels and phosphorylation of NF-κB was detected by Western blot. ELISA was used to detect the level of cytokines secreted from CD14⁺ monocytes. A t-test or paired t-test was used for comparison between groups. Results: The relative expression of Notch1 mRNA (3.97 ± 2.03 vs. 0.91 ± 0.76, P < 0.01) and downstream of Notch signaling pathway (5.96 ± 2.31 vs. 0.99 ± 0.45, P < 0.01), Hes1 mRNA and Hes5 mRNA (4.31 ± 1.05 vs. 0.84 ± 0.20, P < 0.01) in CD14+ monocytes of chronic hepatitis C patients was significantly higher than that of healthy individuals. The relative expression of TLR4 mRNA (5.14 ± 1.09 vs. 1.27 ± 0.39) and protein level in CD14⁺ monocytes of chronic hepatitis C patients were significantly higher than those of healthy individuals (P < 0.01). An inhibition of Notch signaling pathway with DAPT had reduced the relative expression level of TLR4 mRNA (2.58 ± 1.36 vs. 4.34 ± 1.88, P < 0.05), protein expression and phosphorylation of NF-B in CD14⁺ monocytes of chronic hepatitis C patients. Furthermore, the secretion level of MCP-1 [(94.32 ± 23.59) pg/ml vs. (64.07 ± 9.39) pg/ml, P < 0.01] and IL-8 [(12.54 ± 4.89) pg/ml vs. (7.92 ± 3.01) pg/ml, P < 0.05] was significantly reduced. TLR4 siRNA transfection reduced the expressions of Notch1 mRNA (2.09 ± 1.72 vs. 3.73 ± 1.75, P < 0.05), Hes1 (2.87 ± 0.84 vs. 5.54 ± 0.97, P < 0.01), and Hes5 (2.89 ± 0.93 vs. 4.51 ± 1.54, P < 0.01) in CD14⁺ monocytes of chronic hepatitis C patients. Conclusion Interaction of Notch signaling pathway with TLR4 can promote the function of CD14⁺ monocytes in chronic hepatitis C patients.

Betacoronavirus ; Coronavirus Infections ; Humans ; Pandemics ; Pneumonia, Viral ; Single-Cell Analysis