Objective The purpose of this study was to identify the effect factors on family adaptation of hospitalized children.Methods A survey was conducted in 330 hospitalized children's parents using questionnaires such as FSI,FVI,FHI,FWBI.Results Multiple factor analysis showed that the strongest resilience factor was family hardiness,the second one was general family value on family adaptation of hospitalized children.Conclusions Family hardiness and family value have the adjusting role on family adaptation of hospitalized children.Therefore,the significance of this study can be used to develop family nursing intervention program based on family resilience to strengthen family adaptation of hospitalized children.

Objective:To explore the efficacy of traditional chinese medicine Danhong on renal pathological lesions of rats with early chronic kidney disease (CKD) and the role of transforming growth factorβ1(TGF‐β1) in it .Methods:Thirty male SD rats were divided into three groups :the early CKD group (model group) ,the sham‐operated group (control group) and Danhong treated group (treated group) ,with 10 in each group .Rats in the three groups were treated by uninephrectomy for building up early CKD model ,sham‐operation (separating tissues to renal capsule without kidney excision) ,and Danhong treatment after building up model ,respectively .Renal pathological lesions ,24 h urine protein excretion and renal function were observed .The concentration of TGF‐β1 in renal cortex and overall expression of TGF‐β1 in renal tissue was examined by enzyme‐linked immune‐sorbent assay (ELISA) and immunohistochemistry ,respectively .Results:Mild to moderate proliferation of glomeruli mesangial cells accompanied by broadened mesangium matrix ,glomeruli capsule wall adhesion and change of capillary wall , interstitial fibrosis and inflammatory monocytes infiltration was found in the model group other than the control group .Renal lesions were alleviated dramatically in treated group ,while compared to that in model group .The gross renal pathological score in model group was higher than that in control group (P<0 .05) ,however ,the score in treated group was lower than that in model group (P<0 .05) .The 24 h urinary protein excretion in model group and treated group was higher than that in control group (P<0 .01) ,while the 24 h urinary protein excretion in treated group was lower than that in model group (P<0 .01) . There was no significant difference among the three groups regarding blood creatinine level and urea level .Serum CysC levels in model group and treated group increased significantly than that in control group (P<0 .05) .The concentration of TGF‐β1 in renal cortex and overall expression of TGF‐β1 in renal tissue were higher in model group than those in control group(P<0 .05) ,while those in treated group were lower than those in model group (P<0 .05) .TGF‐β1 expression level in renal tissues was significantly associated with both the urinary protein excretion and the total renal pathological scores ( P< 0 .01 ) . Conclusions:Danhong alleviated renal pathological lesions by down‐regulating TGF‐β1 expression .

OBJECTIVE: To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses. METHODS: Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples. RESULTS: SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES. CONCLUSION Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.
Aneuploidy ; Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 22 ; Eye Abnormalities ; diagnosis ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes. METHODS: Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics. RESULTS: Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth. CONCLUSION NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.
DNA Copy Number Variations ; Female ; Humans ; Mosaicism ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Trisomy

Objective To investigate the effects of DNA demethylation drugs combined with histone deacetylase in-hibitors on fragile X mental retardation 1 neighbor protein (FMR1NB) expression and its promoter methylation in human oral cancer cells and try to find a strategy of weakening the heterogeneity of FMR1NB expression.Methods Human oral cancer cell lines Cal27 and SCC-9 were treated with decitabine (DAC) , an inhibitor of DNA meth-yltransferase, combined with trichostatin A (TSA) and valproic acid (VPA), inhibitors of histone deacetylase.Then reverse transcription-polymerase chain reaction (RT-PCR) , quantitative real-time PCR (qRT-PCR) and Western blot were used to detect the expression of FMR1 NB and pyrosequencing was used to detect the methylation of FMR1NB promoter.Results Compared with the blank control group, DAC and its combination with TSA and VPA significantly induced the expression of FMR1NB mRNA and protein in Cal27 and SCC-9 cells.Compared with DAC alone group, FMR1NB mRNA expression of each DAC-combined drug groups significantly increased, but FMR1NB protein did not significantly change in Cal27 cells; for SCC-9 cells, except for DAC+TSA group, the mRNA and protein levels of FMR1NB significantly increased in all other groups.In addition, there was no signifi-cant difference in the expression of FMR1 NB mRNA and protein between the three-combined drugs group and two-combined drugs groups.Further methylation assay showed that the methylation level of the overall FMR1NB promot-er and its each CpG site measured were reduced to varying degrees in all treatment groups except for three-combina-tion drug group of SCC-9.Conclusion DAC and its combination with TSA and VPA can enhance the expression of FMR1NB by mediating the demethylation of FMR1NB promoter, wherein the enhanced expression effect of the com-bination of the two drugs is stronger, suggesting that they have the potential to weaken the heterogeneity of FMR1NB expression and improve the immunotherapy effect of oral cancer.

Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.

Objective:To analyze the sensitivity and specificity of SARS-CoV-2 nucleic acid testing in 20 348 close contacts of COVID-19 cases in different prevention and control stages in Guangzhou and to provide scientific evidence for optimizing epidemic response strategies.Methods:A total of 20 348 close contacts of COVID-19 cases in Guangzhou were traced between February 21 and September 22,2020. All the close contacts were tested for the nucleic acid of SARS-CoV-2. The sensitivity and specificity of nucleic acid testing and diagnosis in the different prevention and control stages were compared.Results:In 20 348 close contacts, 12 462 were males (61.24%), the median ( P 25, P 75) of age of them was 31.0 years (23.0,43.0), the median number ( P 25, P 75) of nucleic acid testing for them was 2.0 (1.0,3.0), and the median ( P 25, P 75) of their quarantine days was 12.0 (8.0,13.0) days, respectively. A total of 256 COVID-19 cases were confirmed in the close contacts after seven nucleic acid tests. In the 1 st, 2 nd, 3 rd and 7 th nucleic acid testing, the sensitivity and specificity were 69.14% and 99.99% (177 cases confirmed), 89.84% and 99.99% (230 cases confirmed), 97.27% and 99.99% (249 cases confirmed), and 100.00% and 99.98%, respectively. In the three stages of COVID-19 prevention and control in China: domestic case stage, imported case stage, and imported case associated local epidemic stage, the sensitivity of the 1 st nucleic acid testing was 70.68%, 68.00% and 67.35%, and the specificity was 99.98%, 100.00% and 100.00%, respectively. Conclusions:The sensitivity of nucleic acid testing in the close contacts at the different stages were consistent with slight decrease, which might be related to the increased proportion of asymptomatic infections in the late stage of epidemic prevention and control with COVID-19 in Guangzhou. It is suggested to give three nucleic acid tests to improve the sensitivity and reduce false negative risk.

Objective:To explore chromosomal copy number variations (CNVs) and pregnancy outcomes in fetuses with mild to moderate isolated ventriculomegaly (IVM), but without other indications for invasive prenatal diagnosis.Methods:A retrospective analysis was conducted on clinical data of 215 singleton pregnancies with mild to moderate IVM (lateral ventricular width≥10-<15 mm) who underwent chromosomal microarray analysis (CMA), not indicated by advanced age, high risk in serum screening or abnormal history of pregnancy, at the Fujian Maternity and Child Health Hospital between June 2016 and March 2023. The 215 fetuses were grouped into mild ( n=167) and moderate ( n=48) IVM;unilateral ( n=142) and bilateral ( n=73) IVM; first diagnosis of IVM before 28 weeks ( n=138) and thereafter ( n=77). Anomalies other than IVM were excluded via three-dimensional color Doppler ultrasound examination between 22 and 26 weeks of gestation. Out of these cases, 129 were confirmed by fetal cranial MRI, 191 underwent chromosomal karyotype analysis, and 202 cases received cytomegalovirus DNA quantification test for amniotic fluid. The detection rates of pathogenic CNVs in various groups were compared using Fisher's exact test. Results:Among the 215 fetuses, 11 cases (5.1%) of chromosomal abnormalities were detected through CMA, including one trisomy 21, five pathogenic CNVs, and five CNVs of uncertain clinical significance. Within the pathogenic CNVs, there were two de novo mutations with 16p11.2 microdeletion and one de novo mutation with 16p11.2 microduplication, while one 16p11.2 microduplication and one Xp22.31 microdeletion were inherited maternally. Of the CNVs of uncertain significance, there were two 16p13.11 microduplications, each inherited from a different parent, one paternally and one maternally; meanwhile, family validation was refused in the other three cases with 3p22.1 microdeletion, 3p26.3 microdeletion, and 9q21.33q22.31 microduplication. The detection rate of pathogenic CNVs in the moderate IVM group was higher than that in the mild IVM group [6.3% (3/48) vs. 1.2% (2/167)], but the difference was not statistically significant ( P=0.083). Similarly, no significant difference was found in the detection rate of pathogenic CNVs when comparing the unilateral IVM group [2.1% (3/142)] with the bilateral IVM group [2.7% (2/73)], nor between the group diagnosed with VM before 28 weeks gestation [2.2% (3/138)] and that diagnosed ≥28 weeks [2.6% (2/77)] (both P>0.05). After the exclusion of fetuses with chromosomal pathogenic abnormalities ( n=11), cytomegalovirus infection( n=1), and additional ultrasound anomalies ( n=7), and several cases with missing data intrauterine outcomes were followed up in 169 IVM fetuses, including 104 (61.5%) improved, 60 (35.5%) unchanged, and five (3.0%) progressed. Follow-ups were successful for 194 women, of which eight pregnancies were terminated (including one trisomy 21, four pathogenic CNVs, one fetal cytomegalovirus infection, and two progressed to severe IVM). Among the 186 newborns, one was diagnosed with X-linked ichthyosis, and one child who progressed to severe IVM before born was followed until 20 months of age without notable phenotypic abnormalities. The rest 184 babies, including those with CNVs of uncertain clinical significance, exhibited no developmental abnormalities during follow-up between the ages of three months and six years. Conclusions:For those fetuses with isolated mild to moderate IVM, but without indications for prenatal diagnosis such as advanced maternal age, high risk in serum screening or abnormal history of pregnancy, remain having the risk for chromosomal aberrations, and 16p11.2 microdeletion/microduplication might be a frequent CNV associated with this condition. Aside from those with pathogenic chromosomal aberrations, fetal cytomegalovirus infection, or progressive enlargement of the lateral ventricles, most fetuses with isolated mild to moderate IVM have a good prognosis.