ABSTRACT
OBJECTIVE@#To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis.@*METHODS@#The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases.@*RESULTS@#We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin.@*CONCLUSION@#The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.
Subject(s)
Humans , DNA Copy Number Variations , East Asian People , Mutation , Pedigree , Spectrin/genetics , Spherocytosis, Hereditary/diagnosisABSTRACT
OBJECTIVE: To investigate the risk factors of venous thrombosis(VTE) and to evaluate the predictive ability of the existing risk assessment models(RAM) in medical oncology inpatients. METHODS: In this study, 252 medical oncology inpatients were divided into study group(63) and control group(189) according to VTE. Logistic regression analysis was performed to identify the risk factors of VTE and to evaluate the predictive ability of KRS and PPS. RESULTS: This study showed that previous VTE, staying in bed≥3 d,platelet count≥350×10~9/L, D-dimer>0.55 mg/L and stage IV cancer were associated with VTE risks(OR=12.149, 3.672, 3.144, 5.263,1.439, 1.382, P0.55 mg/L, and stage IV cancer are independent risk factors of VTE. Compared with the limited predictive ability of PPS,KRS can predict VTE very well for low-and intermediate-risk patients.
ABSTRACT
Objective To investigate the effect of intra-articular tumor necrosis factor (TNF) inhibitor injection in patients with moderate to severe rheumatoid arthritis (RA) and values of power Doppler ultrasonography in evaluating effect of intra-articular injection.Methods RA patients with arthritis in knee and/or elbow and/or ankle referred to the Department of Rheumatology in the First Affiliated Hospital of Xi'an Jiaotong University were enrolled to receive intra-articular injection with 50 mg or 25 mg of recombinant human tumor necrosis factor-α receptor Ⅱ:IgG Fc fusion protein (TNFR:Fc) for injection after synovial fluid aspiration.Evaluation of visual analogue scale for pain of the involved joints,erythrocyte sedimentation rate (ESR),C reactive protein (CRP) and 28-joint disease activity score (DAS28) were performed before and after intra-articular TNFR:Fc injection.Synovial hypertrophy,power Doppler signal and joint effusion were analyzed and graded by ultrasound before and after intra-articular TNFR:Fc injection.Comparisons of continuous data between groups was made by t test.The data that were not normally distributed was analyzed by Mann-Whitney U rank sum test.Results Fifty-four patients with RA [6 men and 48 women,mean age (52±11) years,mean duration of disease (7±3) years] were included in this study.A significant decrease in visual analogue scale for pain of the involved joints (t=2.630,P=0.018;t=2.160,P=0.043),ESR (t=2.094,P=0.030;Z=-2.242,P=0.030),CRP (Z=-2.199,P=0.030;Z=-3.337,P=0.001) and DAS28 (t=3.579,P=0.002;t=5.538,P=0.000) were observed after one month of injection of 50 mg or 25 mg of TNFR:Fc.Synovial hypertrophy (t=2.175,P=0.036;t=2.280,P=0.030) power Doppler signal (t=2.500,P=0.020;Z=-2.504,P=0.013) and joint effusion (Z=-1.790,P=0.042;t=2.230,P=0.027) were reduced significantly after one month of intra-articular TNFR:Fc injection in knee.Synovial hypertrophy (t=2.180,P=0.034;t=2.480,P=0.030) and power Doppler signal (t=2.681,P=0.020;t=5.482,P=0.000) were also reduced significantly after one month of intra-articular TNFR:Fc injection in elbow and ankle.Conclusion Intra-articular TNFR:Fc injection is an effective and safe treatment in RA patients with monoarthritis.Ultrasound may be an objective and valid method in evaluating the effect of intraarticular TNF inhibitor injection in RA patients.