Objective To explore the relationship between amyloid A(SAA)/C-reactive protein(CRP)and airway inflammation and disease severity in children with acute exacerbation of bronchial asthma.Methods A total of 82 children with acute exacerbation of bronchial asthma admitted to Anhui Provincial Children's Hospital from July 2020 to July 2023 were selected as the study objects,and were divided into mild group(23 cases)and moderate and severe group(59 cases)according to the disease severity at admission.SAA/CRP and airway inflammation indicators[interleukin-6(IL-6),procalcitonin(PCT)]in the two groups were compared.Receiver operating characteristic(ROC)curve was used to evaluate the diagnostic value of SAA/CRP for the disease severity of children with acute exacerbation of bronchial asthma,and multivariate Logistic stepwise regression analysis was used to explore the influencing factors for the disease severity of children with acute exacerbation of bronchial asthma.Results The serum levels of IL-6 and PCT in the mild group were lower than those in the moderate and severe group(P＜0.05),and the serum SAA,CRP and SAA/CRP in the mild group were lower than those in the moderate and severe group(P＜0.05).SAA/CRP was positively correlated with IL-6 and PCT levels in children with acute exacerbation of bronchial asthma(r=0.317,0.324,P=0.010,0.001).The area under the curve of SAA,CRP and SAA/CRP for diagnosing the disease severity of children with acute exacerbation of bronchial asthma were 0.854,0.753 and 0.916,re-spectively.Family history of asthma(OR=3.622,95％CI:1.556～8.430),asthma control test score(OR=4.175,95％CI:1.652-10.550),SAA/CRP(OR=5.254,95％CI:2.108-13.097)were the risk factors for children with acute exacerbation of bronchial asthma(P＜0.05).Conclusion The SAA/CRP in children with acute exacerbation of bronchial asthma is related to airway inflammation,and has a certain value in evaluating the disease severity of children with acute exacerbation of bronchial asthma.

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

OBJECTIVE: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2. RESULTS: The proband of pedigree 1 was a fetus at 23⁺⁵ weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up. CONCLUSION The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Female ; Humans ; Pregnancy ; Pedigree ; Cerebellum/abnormalities* ; Abnormalities, Multiple/diagnosis* ; Eye Abnormalities/diagnosis* ; Kidney Diseases, Cystic/diagnosis* ; Phosphoric Monoester Hydrolases/genetics* ; Retina/abnormalities* ; East Asian People ; Mutation