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.

OBJECTIVETo investigate the genetic cause and prognosis of a fetus with a rare karyotype.

METHODSFluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.

RESULTSThe fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3. Whole genome DNA microarray confirmed that there was a 17.87 Mb duplication in the 21q21.3q22.3 region, which involved GATA1, JAK2 and ALL genes and spanned the Down syndrome region. The genes are implicated in craniofacial abnormalities, cardiac abnormalities, mental retardation, growth retardation, limb abnormalities. In addition, there was also an 8.43 Mb deletion in the 4p16.1p16.3 region, which involved FGFR3, LETM1, WHSC1 and WHSC2 and other 64 OMIM genes and spanned the Wolf-Hirschhorn syndrome region. The genes are implicated in growth retardation, craniofacial abnormalities, cardiac abnormalities, mental retardation, and hypotonia. After consultation, the family chose to terminate the pregnancy at 25th week of gestation.

CONCLUSIONFISH can help to verify structural chromosome abnormalities suspected by conventional karyotyping analysis. Combined with whole genome microarray, these can determine copy number variation and its region containing the disease genes, and facilitate clinical analysis of the fetus.

Abortion, Eugenic ; Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVETo perform prenatal diagnosis for a fetus with multiple malformations.

METHODSThe fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis.

RESULTSFetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37.3;p12.2), t(5;15) (q12.2;q25) pat. SNP array analysis confirmed that the fetus has a 5.283 Mb deletion at 2q37.3 and a 11.641 Mb duplication at 20p13p12.2. High-resolution chromosome analysis suggested that the father has a karyotype of 46,XY,t(2;20)(q37.3;p12.2),t(5;15)(q12.2;q25), while the mother has a normal karyotype.

CONCLUSIONThe abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.

Abnormalities, Multiple ; genetics ; Adult ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Fetus ; abnormalities ; Gene Duplication ; genetics ; Humans ; Karyotyping ; methods ; Male ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVETo conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies.

METHODSG-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus.

RESULTSThe women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively. Both have involved deletion of 18q21.2q23. FISH analysis suggested that the cell line containing 47 chromosomes has harbored a chromosome marker derived from chromosome 15. The marker has contained chromosome 15p involving the SNRPN locus and part of 15q, which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D15Z1+ SNRPN+[82]/46,XX,del18q21.3[18]. Whole genome DNA microarray confirmed that a 3.044 Mb fragment from 15q11.2q12 was duplicated, which involved NIPA1, SNRPN and other 17 OMIM genes. Duplication of this region has been characterized by low mental retardation, autism, developmental delay. Meanwhile, there was a 17.992 Mb deletion at 18q21.33q23, which contained 39 OMIM genes including TNFRSF11A and PHLPP1. This fragment was characterized by mental retardation, developmental delay, short stature, and cleft palate. Whole genome microarray analysis confirmed that there was a 17.9 Mb deletion at 18q21.33q23, which has been implemented with mental retardation, general growth retardation, short stature, and cleft palate. After genetic counseling, the family decided to terminate the pregnancy at 21st week.

CONCLUSIONCombined chromosome karyotyping, FISH, and whole genome DNA microarray can determine the origin of marker chromosomes and facilitate delineation of its correlation with the clinical phenotype.

Abortion, Eugenic ; Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Fatal Outcome ; Female ; Fetus ; abnormalities ; metabolism ; Growth Disorders ; embryology ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; embryology ; genetics ; Karyotype ; Karyotyping ; Prenatal Diagnosis ; methods

Vascular cognitive impairment(VCI)includes a range of illnesses from mild cognitive impairment to dementia,attributable to cerebrovascular factors.Although appropriate animal models are needed to allow clinicopathological research and drug development,there are currently no animal models that can perfectly simulate the pathogenesis of VCI.At present,carotid artery and vertebral artery stenosis or occlusion are the main method for VCI modeling;however,increasing numbers of non-surgical method have recently emerged,providing new ideas and prospects for the study of this disease.In this paper,we consider the construction method,model mechanisms,and model characteristics of non-surgical animal models of VCI,to provide a reference to help researchers choose the most suitable animal model.

Objective:To evaluate the utility of CT perfusion (CTP) for assessment of effect of encephalo-duro-arterio-synangiosis (EDAS) on moyamoya disease (MMD).Methods:Thirty-eight adult MMD patients, who underwent EDAS in our hospital from March 2014 to October 2019, were chosen in our study. All patients received CTP and digital subtraction angiography (DSA) before and after surgery; cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT) and time to peak (TTP) in the operative cerebral cortices and their contralateral mirror areas, as well as brainstems were measured respectively; their relative parameter values (rCBF, rCBV, rMTT and rTTP) were calculated with the brainstem as the reference; perfusion changes of cerebral tissues were observed before and after surgery, and efficacies of these parameters in evaluating the surgical treatment effect were compared. According to the degrees of collateral formation detected by postoperative DSA, the 42 hemispheres of these patients were divided into group of good collateral formation and group of poor collateral formation, and the differences of perfusion changes in the two groups were further discussed.Results:CTP revealed that cerebral perfusion at surgical side after EDAS was significantly improved in all the 42 hemispheres; significantly increased rCBF, and significantly decreased rMTT and rTTP were noted as compared with those before surgery ( P<0.05). Receiver operating characteristic (ROC) curve showed that the area under the curve of rTTP (0.897) was the largest among all parameters, with diagnostic sensitivity of 87.5% and specificity of 80.8%. Twenty-six patients (61.9%) were into the group of good collateral formation and 16 (38.1%) were into the group of poor collateral formation; changed values of rCBF and rMTT in the group of good collateral formation were significantly better than those in the group of poor collateral formation ( P<0.05). Conclusion:CTP can quantitatively evaluate cerebral hemodynamic changes after EDAS in moyamoya disease patients, and postoperative rTTP changes can reflect the degrees of collateral vessel formation.