Objective To explore the value of transthoracic echocardiography in diagnosis of univentricle and analyze the sonogram typing. Methods The results of 66 patients with univentricle were reviewed retrospectively,and analayzed their typing connected with the reports in the literature. Results There were 3 ultrasonic types in 66 cases:①Type A(single left ventricle) 19 cases,single ventricle with left ventricular shape,residual cavity in front of it. ②Type B(single right ventricle) 38 cases, single ventricle with right ventricular form,and residual cavity in the rear.③Type C (solitary single-ventricle) 9 cases,there was only one ventricle. Thirty-one of them were treated surgically, 5 cases without operation had MRI or cardiac catheterization examination and the remaining 26 patients were only observed by echocardiography,the positive rate of diagnosis in type was 100%, the results were compared with cardiac catheterization or MRI examination and the operation: 1 cases of mixed type total anomalous pulmonary venous connection was misdiagnosed as heart-type total anomalous pulmonary venous drainage. But 1 case of descending aorta limitations narrow complicated patent ductus arteriosus(PDA), PDA was missed. The rest were completely correct diagnosis. Conclusions The transthoracic echocardiography can be used to evaluate types and all containing malformations of univentricle,and offers reliable information for operation.

Objective To observe the effects of live combined bifidobacterium,lactobacillus and enterococcus powder on immunoglobulin E (IgE) and interleukin-17 (IL-17) in atopic children with bronchiolitis.Methods Sixty cases of atopic children with bronchiolitis were randomly divided into the therapy group (30 cases) and the control group (30 cases).Twenty-five healthy children were enrolled as the healthy control group.Both the therapy group and the control group were given traditional therapy.The therapy group received live combined bifidobacterium,lactobacillus and enterococcus powder for 2 months.The change of IgE and IL-17 levels were observed during the acutestage,remission stage and after receiving live combined bifidobacterium,lactobacillus and enterococcus powder for 2months.Results (1) The levels of IgE and IL-17 of therapy group[(132.36 ±9.50) μg/L and (77.76 ±7.95)μg/L] during acute stage were markedly higher than those in the healthy control group [(52.80 ±4.92) μg/L and (46.92 ±4.79) μg/L] (all P ＜0.001).The levels of IgE and IL-17 of control group [(128.83 ± 8.06) μg/L and (76.61 ±6.18) μg/L] during remission stage were markedly higher than those in the healthy control group [(52.80 ±4.92) μg/L and (46.92 ± 4.79) μg/L] (all P ＜ 0.001).(2) The levels of IgE of therapy group (56.67 ± 9.20)μg/L after receiving live combined bifidobacterium,lactobacillus and enterococcus powder for 2 months were markedly lower than those in the control group (70.50 ± 11.38) μg/L (P ＜ 0.001).The levels of IL-17 of therapy group [(49.63 ± 6.35) μg/L] at the time after receiving live combined bifidobacterium,lactobacillus and enterococcus powder for 2 months were markedly lower than these in the control group (54.77 ± 6.33) μg/L (P =0.003).Conclusion Receiving live combined bifidobacterium,lactobacillus and enterococcus powder for two months can decrease the IgE and IL-17 levels in atopic children with bronchiolitis.

Objective To evaluate the role of a color jaundice card (6 colors) as a possible screening tool for detecting neonatal hyperbilirubinemia.Methods During February 1,2016 and May 31,2017,neonates were enrolled in the study,with gestational age ≥35 weeks,birth weight ≥2 000 g,postnatal age 3-28 days,who were the outpatients or inpatients of the 9th People's Hospital of Wuxi Affiliated to Soochow University and the People's Hospital of Anyang.In a well-lighted room,the card measurements were performed at the infants' forehead,the cheek and the sternum.The skin was pressed with a finger for 2 seconds and left quickly,and then the card was used to compare with the exposed yellow skin.Within 2 hours after jaundice card measurement,blood was obtained by venipuncture and total serum bilirubin (TSB) levels were measured.The sensitivity,specificity,positive predictive value (PPV),negative predictive value (NPV),positive likelihood ratio (PLR) and negative likelihood ratio (NLR) were calculated at each measurement sites.Results One hundred and thirty-two neonates were enrolled,of whom 68 cases (51.5％) were male and 64 cases(48.5％) were female and 18 cases (13.6％) were preterm and 114 cases (86.4％) were term neonates.Among all neonates,TSB was ＜5.00 mg/dL(1 mg/dL =17.1 μmol/L) in 21 cases (15.9％),5.00-9.99 mg/dL in 26 cases (19.7％),10.00-14.99 mg/dL in 34 cases (25.8％),15.00-19.99 mg/dL in 37 cases (28.0％) and ≥ 20.00 mg/dL in 14 cases (10.6％).The card had the highest cap ability to recognize jaundice at the cheek,slightly lower at the sternum and the worst in the forehead.The cut-off of ≥ 12 on the six-color card at the cheek had a sensitivity of 95.95％,specificity of 74.14％,PPV of 82.56％,NPV of 93.48％,PLR of 3.710 and NLR of 0.055 for identifying neonates with TSB ≥ 12 mg/dL,with sensitivity being 98.08％,specificity 57.50％,PPV 60.00％,NPV 97.87％,PLR 2.308 and NLR 0.033 for TSB≥ 15 mg/dL.The identification rate was as follows:sensitivity of 100.00％,specificity of 46.00％,PPV of 37.21％,NPV of 100.00％ and PLR of 1.852 for predicting TSB ≥ 17 mg/dL.In addition,in the forehead,cheeks and sternum,the sensitivity of the cut-off of ≥ 12 on the card was 100.00％ for identifying neonates with TSB≥20 mg/dL.In the cheeks and the sternum,the cut-off of ≥ 15 on the card was with a sensitivity of 100.00％ for predicting TSB ≥ 20 mg/dL.Conclusion The six-color jaundice card is a potential screening tool for neonatal hyperbilirubinemia,and the cheek is the best measurement site.

Objective To investigate the clinical significance and changes of serum interleukin-4 (IL-4),interferon-γ(IFN-γ) and immunoglobulin E (IgE) levels in infants with spasmodic laryngitis.Methods Serum samples were obtained from 50 children with spasmodic laryngitis and 30 healthy children.The changes of IL-4,IFN-γand IgE levels in serum when hospital admission (acute stage),before discharge (the stage of clinical symptom disappeared) and after 2 months of follow-up were observed.Enzyme-linked immunosorbent assay was used to determine the levels of IL-4 and IFN-γ in serum.Serum IgE level was determined with enzyme-linked fluoroimmuneassay.Results The serum level of IL-4 in patients with spasmodic laryngitis during acute stage were much higher than that in normal control group[(20.65 ±5.87) ng/L vs(8.23 ±2.71) ng/L,t =5.536,P ＜0.05].It was decreased during the stage of clinical symptom disappeared and significantly lower than that during acute stage[(11.07 ± 2.93) ng/L vs (20.65 ± 5.87) ng/L,F =5.258,P ＜ 0.05].The serum level of IFN-γ in patients with spasmodic laryngitis during acute stage were much lower than that in normal control group[(61.38 ±6.36) ng/L vs (108.42 ± 13.56) ng/L,t =4.831,P ＜ 0.05],and it was increased during the stage of clinical symptom disappeared [(95.12 ± 11.63) ng/L] and significantly higher than that during acute stage(F =4.239,P ＜ 0.05).There was no difference between the patients at clinical symptom disappeared stage and normal control group (P ＞ 0.05).Two months after discharge,there was no difference in serum INF-γlevel between the patients [(75.68 ±6.29) ng/L] and that in control group (P ＞ 0.05).The serum level of IgE in patients with spasmodic laryngitis during acute stage were much higher than that in normal control group [(136.63 ± 17.86) ng/L vs (47.16 ± 6.83) ng/L,t =6.685,P ＜ 0.05].It was decreased during the stage of clinical symptom disappeared [(88.07 ± 11.83) μg/L] and significantly lower than that during acute stage(F =5.182,P ＜ 0.05),but higher than that of normal control group (P ＜ 0.05).Two months after discharge [(86.72 ± 7.25) μg/L] it was still higher than that in control group (P ＜ 0.05).Conclusions There is TH1/TH2 imbalance in infants with spasmodic laryngitis.Maybe spasmodic laryngitis is one of the clinical manifestations of atopic diseases.IL-4,IFN-γand IgE may play important roles in immunologic pathogenesis.

Approximately 140 million people worldwide are homozygous carriers of APOE4 (ε4), a strong genetic risk factor for late onset familial and sporadic Alzheimer's disease (AD), 91% of whom will develop AD at earlier age than heterozygous carriers and noncarriers. Susceptibility to AD could be reduced by targeted editing of APOE4, but a technical basis for controlling the off-target effects of base editors is necessary to develop low-risk personalized gene therapies. Here, we first screened eight cytosine base editor variants at four injection stages (from 1- to 8-cell stage), and found that FNLS-YE1 variant in 8-cell embryos achieved the comparable base conversion rate (up to 100%) with the lowest bystander effects. In particular, 80% of AD-susceptible ε4 allele copies were converted to the AD-neutral ε3 allele in human ε4-carrying embryos. Stringent control measures combined with targeted deep sequencing, whole genome sequencing, and RNA sequencing showed no DNA or RNA off-target events in FNLS-YE1-treated human embryos or their derived stem cells. Furthermore, base editing with FNLS-YE1 showed no effects on embryo development to the blastocyst stage. Finally, we also demonstrated FNLS-YE1 could introduce known protective variants in human embryos to potentially reduce human susceptivity to systemic lupus erythematosus and familial hypercholesterolemia. Our study therefore suggests that base editing with FNLS-YE1 can efficiently and safely introduce known preventive variants in 8-cell human embryos, a potential approach for reducing human susceptibility to AD or other genetic diseases.
Humans ; Apolipoprotein E4/genetics* ; Cytosine ; Mutation ; Blastocyst ; Heterozygote ; Gene Editing ; CRISPR-Cas Systems