Objective: To analyze the molecular genetics changes of multiple malformations using array-based comparative genomic hybridization (aCGH), and evaluate the value of this technique in routine chromosomal karyotype analysis. Methods: Thirty one cases were studied of fetal multiple malformations collected by ultrasound examination from Feb. 2012 to May 2015 in General Hospital of Chinese PLA. The age of gravida ranged from 20 to 37, the gestational time ranged from 21 to 27 weeks. Samples of amniotic fluid and umbilical cord blood were collected, and chromosomal karyotype analysis and aCGH were carried out. Results: All of 31 samples were successfully detected by G-band chromosomal karyotype analysis and aCGH. Among karyotype analysis, 4 samples failed of cultivation, and 1 showed no karyokinesis. Among 26 cases of successful cultivation, 3 were with abnormal karyotype leading to a abnormality rate of 11.54% (3/26). In the aCGH analysis, the chromosomal polymorphism with no pathogenicity of microdeletion and microduplication were detected in 21 cases; 6 cases showed abnormal and the abnormality rate was 19.35% (6/31). Conclusions: Array-based comparative genomic hybridization technique has the advantages of high resolution and wide coverage, may not only make up for the defect of unable to do karyotyping since failed cultivation or lacking cell vigor, but also reveal the microdeletion and microduplication at submicrostructure level, which is favorable for understanding the reason and providing the evidence of fetal malformation.

Objective To establish a new effective method by using real-time polymerase chain reaction (PCR) to detect single nucleotide polymorphism (SNP) typing for rapid identifying apolipoprotein E alleles.Methods To determine alleles of human apolipoprotein E genetic polymorphism at Cys112Arg locus was detected by PCR melting curve analysis with fluorophore SYBR Green I. In order to increase the speciality of SNP assays, high fidelity Taq polymerase was used. The reliability of SNP typing was validated by comparison with the results of direct DNA sequencing.Results Each sample was determined by double tubes, and two melting curves were analysis. As compared the Tm value of samples with the Tm of standard substance, the apoE genotype of samples was determined. The apoE genotype of 30 samples were E3/3 (27/30) and E3/4 (3/30) respectively, which was accordant with the results of PCR-RFLP and DNA sequencing.Conclusion The presented allelic assay was specific, easy to operate and applicable for discrimination of apolipoprotein E genotyping of human blood.

Objective To analysis effect of Bifidobacterium tetravaccine tablets ( live ) combined with cefixime on C-reactive protein, ceruloplasmin, haptoglobin and α1-acid glycoprotein in patients with Bacterial enteritis.Methods 58 patients who were diagnosed with Bacterial enteritis were collected.All patients were randomly divided into experimental group and control group, 29 cases in each group, On the basis of conventional treatment, the control group was treated with cefixime, and the experimental group was treated with Bifidobacterium tetravaccine tablets ( live) on the basis of control group.After treatment, the serum levels of CRP, CER, HPT, AAG and clinical curative effect were detected in all patients.Results After treatment, CRP, CER, HPT, AAG levels were lower than before treatment (P<0.05),compared with control group, CRP, CER, HPT, AAG levels were lower than in the experimental group( P<0.05);the total effective rate was higher in the experimental group (χ2 =4.35, P<0.05).Conclusion Bifidobacterium tetravaccine tablets(live) combined with cefixime can significantly reduce the serum CRP, CER, HPT, AAG levels in patients with bacteria enteritis, improve the clinical efficacy, have guidance significance for clinic.

OBJECTIVETo observe the clinical effect of Huikangling Tablet (HT, extracted from Scabrous Patrinia root) on peripheral blood micrometastasis of differentiated thyroid carcinoma (DTC) patients.

METHODSTotally 87 DTC patients with positive micrometastasis were randomly assigned to the treatment group (45 cases) and the control group (42 cases). DTC endocrine inhibition treatment standards were executed in all patients. They all took levothyroxine sodium (50 microg/tablet, from low dose, 25 microg each time, once per day, 0.5 h before breakfast), and its dosage was gradually added one week later. The dosage was adjusted according to tested results of TSH combined recurrence risk stratification and endocrine suppression induced adverse reactions risk stratification. Patients in the treatment group took HT (0.4 g per tablet, 3 tablets each time, three times per day for a total of 12 weeks) combined TSH suppression therapy, while those in the control group only received TSH suppression therapy. Peripheral micrometastatic cytokeratin 19 (CK19) and polymorphic epithelial mucin1 (MUC1) were detected by FCM at week 4 and 12. Meanwhile, distant metastasis and adverse reactions were observed.

RESULTSAfter 4-week treatment positive micrometastasis was shown in 18 cases (40%) of the treatment group and 29 cases (69%) in the control group with statistical difference (chi2 = 5.68, P < 0.05). After 12-week treatment positive micrometastasis was shown in 7 cases (15.6%) of the treatment group and 17 cases (44.7%) in the control group with statistical difference (chi2 = 8.49, P < 0.01). Pulmonary metastasis occurred in 2 cases and bone metastasis in 1 case of the control group at follow-ups. Cervical lymph node metastasis without accompanied recurrence of thyroid cancer occurred in one case of the treatment group. No obvious liver or renal abnormalities occurred.

CONCLUSIONHT inhibited peripheral blood micrometastasis of DTC patients and its mechanism needed to be further studied.

Antineoplastic Agents ; pharmacology ; therapeutic use ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Humans ; Neoplasm Micrometastasis ; drug therapy ; Neoplasm Recurrence, Local ; Tablets ; Thyroid Neoplasms ; drug therapy

Objective To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family. Methods PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family. Results A missense mutation Arg773His was identified in the patients (homozygous) and carriers(heterozygous). Conclusions Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.

Objective：To explore the effect of group psychological service on mental health of the children left behind in rural areas.Methods：Totally 222 children left behind in rural areas were selected randomly and divided into intervention group and control group.The intervention group accepted 8 times of group psychological service.The Eysenck Personality Questionnaire(EPQ),Center for Epidemiological Studies of Depression scale for Children(CES-DC),Rutter Children's Behavior questionnaire for completion by teacher,Piers-Harris Children `s Self-concept Scale(PHCSS)were used in both groups to evaluate the effect at baseline,the end of the 7th intervention,and 6 months after the end of the intervention.Results：After intervention,the intervention group got lower scores than control group in EPQ-N [(8.2±5.8)vs.(10.2±6.1),P<0.05]in the first retest,and in CES-DC [(15.9±7.3)vs.(18.8±7.7),P<0.05]in the second retest.The group gained higher scores in anxietyand happy and satisfaction factors of PHCSS [(6.6±3.4)vs.(5.6±2.7),(6.5±1.9)vs.(5.7±1.8);Ps<0.05]. Conclusion：Group psychological service are effective to children left behind in rural areas with depression emotion and had a role in children's personality remodeling.

Heart Neoplasms ; pathology ; Heart Ventricles ; pathology ; Humans ; Infant, Newborn ; Male ; Rhabdomyoma ; pathology

0.05),but a significant difference at weeks 4,8,and 12 between two groups(P

Objective To investigate the effects of hyperbaric oxygen (HBO) combined with neural stem cell (NSC) transplantation on functional recovery after spinal cord injury (SCI).Methods Forty healthy adult Sprague-Dawley rats were randomly divided into a sham group,an SCI group,an NSC group and an HBO+NSC group.In the latter three groups,complete spinal cord transection was performed at T10.The rats of the HBO+NSC group were treated with HBO therapy after NSC transplantation.Hindlimb motor function was assessed with the BassoBeattie-Bresnahan (BBB) scale and tilt table testing.Motor evoked potentials (MEPs) were measured to evaluate the rats'nerve conduction function.The amount of surviving transplanted NSCs at the injured site was counted using Hoechst dyeing.Results The average BBB scores and tilt table test results in the HBO+NSCs group were significantly better than in the SCI and NSC groups from the 2nd week post-SCI.By the 4th week the average latency period and MEP amplitude in the HBO+NSC group were significantly better than in the NSC group,while MEPs in the SCI group still had not re-appeared.The surviving amount of transplanted NSCs in the HBO+NSC group was also significantly greater than in the NSC group.Conclusion HBO combined with NSC transplantation has synergistic effects and can improve functional recovery after SCI.This may be explained by the important role of HBO in promoting the survival of transplanted NSCs.

Objective To study the effect of lipopolysaccharide(LPS)on the endo-pulmonary natrium channel(ENaC)expression in the lung of rats with acute lung injured.Method Sixteen rats were randomly divided into normal control group and LPS-group.Rats of normal control group and LPS-group were killed at 6 hours after intravenous injection of normal saline(8 ml/kg)or LPS(8 mg/kg).The extent of lung injury was assessed by arterial blood gas analysis and histological examination.At the same time,?-ENaC protein and???- ENaC mRNA expression in the lung tissue were analyzed by immunohistochemistry and RT-PCR.Results PaO_2 in LPS-group was noticeably lower than in normal control group(P