ABSTRACT
Objective:To investigate the correlation between serum neutrophil to lymphocyte ratio (NLR), thrombospondin 1 (TSP-1), miR-210 and systemic lupus erythematosus disease activity index (SLEDAI) and the prognostic value of their combination.Methods:The medical records of 126 patients with systemic lupus erythematosus (SLE) in Haikou People′s Hospital (Haikou Hospital Affiliated to Xiangya Medical College of Central South University) from February 2018 to February 2020 were retrospectively analyzed. According to the recurrence of prognosis 6 months after treatment, they were divided into recurrence group ( n=23) and non recurrence group ( n=103). The general data, serum NLR, TSP-1, miR-210 levels and SLEDAI score before and after treatment of the two groups were compared. The relationship between the levels of serum indicators before and after treatment, SLEDAI score, prognosis and recurrence of SLE patients were analyzed, and the efficacy of single and combined serum indicators in predicting prognosis was explored. Results:The levels of serum NLR, TSP-1, miR-210 and SLEDAI score in the recurrence group were higher than those in the non recurrence group before and after treatment (all P<0.05); After treatment, the levels of serum NLR, TSP-1, miR-210 and SLEDAI score in the two groups were lower than those before treatment (all P<0.05). Pearson correlation analysis showed that the levels of serum NLR, TSP-1 and miR-210 in SLE patients were positively correlated with SLEDAI scores (all P<0.05); Cox regression analysis showed that after adjusting other factors such as complement C3, complement C4 levels and SLEDAI scores before and after treatment, serum NLR, TSP-1 and miR-210 before and after treatment were still significantly correlated with the risk of recurrence in SLE patients (all P<0.05); The receiver operating characteristic (ROC) curve showed that the area under curve (AUC) of serum NLR, TSP-1 and miR-210 combined to predict recurrence was 0.907 (95% CI: 0.842-0.951), the sensitivity was 86.96%, and the specificity was 83.50%, which was significantly higher than that of each index alone. Conclusions:Serum NLR, TSP-1, miR-210 levels in SLE patients are positively correlated with SLEDAI scores, and the combined detection of these indicators has a high predictive value for prognosis and recurrence, which can provide references for the diagnosis and treatment of SLE.
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Objective:To investigate the relationship between C3, C4, Th1/Th2 levels and the Myasthenia Gravis Daily Living Scale (MG-ADL) score in patients with myasthenia gravis (MG) and its efficacy in predicting the transition of ocular muscle type to systemic type.Methods:A retrospective study of 94 patients with ophthalmic MG admitted to Haikou People's Hospital from April 2017 to April 2020 was conducted. According to whether they had converted to systemic MG within 6 months, they were divided into transformation group ( n=35) and non-transformation group ( n=59). The levels of C3, C4 and Th1/Th2, as well as the score of MG-ADL and Quantitative Myasthenia Gravis (QMG) were compared between the two groups before and 1 and 3 months after treatment. The correlation between C3, C4 and Th1/Th2 levels and MG-ADL and OMG scores, as well as the related influencing factors of the transformation from ocular muscle type to systemic type was analyzed. The efficiency of each index in predicting the transformation from ocular muscle type to systemic type was analyzed. Results:At 1 and 3 months after treatment, the C3 and C4 in both groups were significantly higher than before treatment, and Th1/Th2 was significantly lower than before treatment; the C3 and C4 in the non-transformation group were higher than that in the transformation group, while Th1/Th2 was lower than that in the transformation group (all P<0.05). The MG-ADL and QMG scores in 2 groups at 1 and 3 months after treatment were significantly lower than those before treatment, and those in the non-transformation group were lower than those in the transformation group (all P<0.05). C3 and C4 levels were negatively correlated with MG-ADL and QMG scores (all P<0.05), while Th1/Th2 levels were positively correlated with MG-ADL and QMG scores (all P<0.05). At 1 and 3 months after treatment, C3, C4 and Th1/Th2 were the influencing factors for the transformation from ocular muscle type to systemic type (all P<0.05). The area under the curve (AUC) of C3, C4 and Th1/Th2 combined to predict the transformation from ocular muscle type to systemic type at 3 months after treatment was 0.939, and the best predictive sensitivity and specificity were 91.43% and 88.14%, respectively. Conclusions:There is a good linear relationship between C3, C4, Th1/Th2 levels and MG-ADL scores in MG patients, and it has a high efficiency in predicting the transition of ocular muscle type to systemic type.
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<p><b>OBJECTIVE</b>To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.</p><p><b>METHODS</b>Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.</p><p><b>RESULTS</b>Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).</p><p><b>CONCLUSION</b>CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , DNA Copy Number Variations , Developmental Disabilities , Genetics , Psychology , Intellectual Disability , Genetics , Psychology , Intelligence , Karyotype , Microarray Analysis , PedigreeABSTRACT
<p><b>OBJECTIVE</b>To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.</p><p><b>METHODS</b>Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.</p><p><b>RESULTS</b>Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.</p><p><b>CONCLUSION</b>CMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.</p>