Objective To investigate the correlation between neutrophil-lymphocyte ratio (NLR) and disease activity of systemic lupus erythematosus (SLE),and the changes of NLR in different organ involvement of SLE patients.Methods A total of 155 SLE patients and 135 healthy controls from the Rheumatology Department of Xiangya Hospital were enrolled in this study from 2010 to 2018.Patients with SLE were divided into lupus nephritis group (LN group) and non-lupus nephritis group (non-LN group),serositis group and non-serositis group,according to whether they had kidney involvement or serositis.According to the SLE disease activity index 2000(SLEDAI-2000),the patients were divided into mild to moderate disease activity group (SLEDAI score ＜ 15) and severe disease activity group (SLEDAI score≥ 15).The NLR values of the above groups were compared.Spearman's correlation analysis was used to analyze the correlation between NLR and SLE patients' laboratory indexes.Multiple linear regression model was used to analyze the relationship between NLR and SLE disease activity.Receiver operating characteristic curve (ROC) was used to evaluate the value of NLR in SLE diagnosis and activity assessment.Results (1)The NLR value of SLE patients was significantly higher than that of healthy control group,and the difference was statistically significant (P ＜ 0.01).(2)The NLR value of SLE patients in the LN group was higher than that in the non-LN group,and the NLR value of SLE patients with serositis was higher than that in the group without serositis,with statistically significant differences (both P ＜ 0.05).(3)The NLR value of SLE patients in the severe disease activity group was higher than that in the mild and moderate disease activity group,and the difference was statistically significant (P ＜ 0.01).(4)NLR of SLE patients was positively correlated with CRP (rs=0.188,P=0.019),SLEDAI score (rs=0.264,P=0.001),and negatively correlated with total serum protein (rs=-0.250,P=0.002) and serum albumin (rs=-0.329,P ＜ 0.001),respectively.(5) Multiple linear regression showed that NLR was independently associated with SLE disease activity (B=0.351,95％CI 0.012-0.690,t=2.047,P=0.042).(6) According to ROC curve,the optimal cut-off value of NLR for SLE diagnosis was 2.17 (sensitivity 60.0％,specificity 83.1％,AUC=0.744),and the best cut-off value for predicting the activity of severe disease activity in SLE patients was 3.28 (sensitivity 58.5％,specificity 78.1％,AUC=0.700).Conclusion NLR is closely related to renal involvement,serositis and disease activity in SLE patients,which indicates that NLR,as a new inflammatory indicator,is of great significance for the assessment of SLE disease activity and organ involvement.

Objective:This study examines the application of echocardiography in the prenatal diagnosis of copy number variation (CNV) associated with fetal congenital heart disease (CHD).Methods:A retrospective analysis was conducted on 447 singleton pregnancies from Quanzhou Maternal and Child Care Hospital (Quanzhou Children's Hospital) from January 2019 to August 2022. These individuals underwent echocardiographic assessments suggestive of fetal CHD and subsequently received invasive prenatal diagnoses. Comprehensive karyotype analysis and chromosome microarray analysis (CMA) were performed for each case. The discrepancies in the chromosomal abnormality detection were analyzed between the results produced by CMA and karyotype analysis. Furthermore, differences in the detection of pathogenic copy number variation (pCNV) between the two methods in CHD cases with diverse cardiac phenotypes, including the presence or absence of extracardiac structural malformations, the type, and quantity of cardiac structural anomalies, were explored. Statistical analysis was conducted using the Chi-square test. Results:Compared with conventional karyotype analysis, CMA demonstrated a higher detection rate of fetal chromosomal abnormalities [10.5% (47/447) vs. 20.6% (92/447), χ 2=161.56, P<0.001]. In terms of distinct cardiac phenotypes, CHD cases with extracardiac structural anomalies displayed an escalated pCNV detection rate in comparison to isolated CHD cases [11.4% (45/394) vs. 32.1% (17/53), χ 2=16.68, P<0.001]. Within the cardiac structural anomaly subgroups, increased pCNV detection rates were observed in the septal defect subgroup, conotruncal malformation subgroup, and left ventricular malformation subgroup [18.4%(29/158), 25.9%(7/27), and 25.0%(7/28) vs. 7.6%(16/210); χ 2=9.15, 9.68, and 8.55, respectively, all P<0.05]. The CMA-identified pCNV correlated with CHD included 22q11.2 deletions/duplications in eight cases, 4p16.3 deletions in two cases, 11q23.3 microduplications in two cases, 1q21.1 microdeletions/microduplications in two cases, 4q28.3 microduplications in one case, and 10p15.3 microdeletions in one case. Conclusions:CMA technology exhibited an enhanced ability to detect pCNV in fetuses with CHD. Echocardiography can guide targeted CMA screening, thereby facilitating prenatal genetic assessment of CHD.

OBJECTIVE: To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. METHODS: Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. RESULTS: The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c.682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+PM2_Supporting+PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). CONCLUSION Discovery of the c.682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Female ; Humans ; Child ; Infant, Newborn ; Pregnancy ; Persistent Fetal Circulation Syndrome/therapy* ; Hypertension, Pulmonary ; Pulmonary Veins ; Forkhead Transcription Factors/genetics*