Objective To investigate the clinical significance of serum interleukin (IL)-6,IL-8,tumor necrosis factor (TNF)- α, high-sensitivity C-reactive protein (hs-C RP), total immunoglobulin (Ig) and complement C levels in children with mycoplasma pneumoniae pneumonia (MPP). Methods Sixty-one cases of children with MPP (observation group) and 60 healthy children (control group) were selected. The serum IL-6 and IL-8 levels were tested by enzyme linked immunosorbent assay(ELISA) method; the serum TNF-α level was tested by γ radioimmunoassay (RIA) counter; the serum hs-CRP, total Ig and complement C levels were tested by rate nephelometry method. Results The serum IL-6 concentration was (109.31 ±54.72) ng/L, IL-8 concentration was (128.19 ±65.87) ng/L, hs-CRP concentration was (34.13 ± 19.21) mg/L, total Ig concentration was (12.62 ± 5.51) g/L and complement C concentration was (2.98 ± 0.97) g/L in the observation group, and they were higher than those in the control group [(67.23 ±32.18) ng/L, (31.78 ±8.91) ng/L, (1.62 ±1.34) g/L, (6.71 ±3.65) g/L, (1.46 ±0.45) g/L]. The differences were significant (P ＜ 0.05 or ＜ 0.01). The serum TNF- t level between two groups had no significant difference (P＞ 0.05). Conclusions The serum cytokines IL-6 and IL-8, hs-CRP, total Ig and complement C play an important role in MPP. It has important significance to detect the serum cytokines IL-6 and IL-8, hs-CRP, total Ig and complement C levels in children with MPP.

ObjectiveTo explore the value of virtual touch tissue quantification (VTQ) in the evaluation of clinical pathological typing of advanced gastric cancer.MethodsFifty six patients who had been diagnosed as gastric cancer were examined using acoustic radiation force impulse.According to clinical pathological typing,all cases were divided into highly-moderately differentiated adenocarcinoma (14 cases) and non-highly-moderately differentiated adenocarcinoma (42 cases).A comparison with clinical pathologic results was made after surgery.The correlation of VTQ results and clinical pathological typing of gastric cancer was analyzed.ResultsThe VTQ value of highly-moderately differentiated adenocarcinoma was lower than that of non-highly-moderately differentiated adenocarcinoma [(1.49 ± 0.44) m/s vs (2.12 ± 0.45) m/s],with statistical significance( t =-4.53,P ＜0.05).According to the maximum area under the ROC curve,the cutoff value of VTQ was 1.795 m/s,the sensitivity and specificity were 78％ and 86％,respectively,the Youden's index was 0.64,and with high reproducibility(Kappa =0.81).ConclusionsVTQ could initial estimate the clinical pathological typing of advanced gastric cancer before operation.

OBJECTIVE: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality. METHODS: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS). RESULTS: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father. CONCLUSION Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.
Chromosome Disorders ; Chromosomes, Human ; Female ; Fetus ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Trisomy

Objective: To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality. Methods: The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis. Results: A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ²=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%). Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.

Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

Objective:To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly.Methods:A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis.Results:In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene.Conclusions:CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.