Objective To study the relevance of 1iver fibrosis at Kasai procedure with age, degree of pathological changes of liver tissue, header bile ductuler proliferation and pathological feature of portal fibrous tissue in biliary atresia patients. Methods From January 2013 to June 2016, 48 biliary atresia patients accepted Kasai procedure, and liver tissue biopsy and portal fibrous tissue excision was done. Level of liver fibrosis was evaluated under microscope using Masson trichrome staining and HE staining, and extent of ductular reaction was evaluated using CKl9 immunohistochemistry staining with image analysis technology. Based on classification of Okamoto severity degree of liver fibrosis, forty eight patients were divided into two groups:low-grade liver fibrosis group (23 patients)and severe liver fibrosis group (25 patients). The relevance of age at Kasai procedure, liver pathological changes, header bile ductuler proliferation, portal fibrous tissue in volume and bile ductuler proliferation, inflammation reaction with severity degree of liver fibrosis was analyzed with SPSSl6.0 software statistically. Results Age of severe 1iver fibrosis group at Kasai procedure were 38- 89 d, and the mean age was (62.64 ± 14.92) d. Age of low-grade 1iver fibrosis group were 18- 92 d, and the mean age was (53.13 ± 16.89) d. There was significant difference (t=2.071, P=0.044). Mean number of patients with header bile ductuler proliferation at Kasai procedure in severe 1iver fibrosis group and low-grade 1iver fibrosis group were (17.28 ± 4.31) cases and (11.39 ± 4.00) cases, and there was significant difference (t=4.900, P=0.000). There was significant difference in degree of hepatocellular pathological changes at Kasai procedure between groups (χ2 =4.691, P=0.030). There were no significant differences in the volume of portal fibrous tissue in volume (t=0.276, P=0.784), portal bile ducts proliferation (t=0.53, P=0.60) and inflammation reaction (χ2=3.074, P=0.080) between groups. Conclusions There is significant relevance between the degree of 1iver fibrosis in biliary atresia patients at Kasai procedure and age, level of hepatocellular pathological change and degree of header bile ductuler proliferation , The more older the age, the more sever the hepatocellular pathological change and the bile ductuler proliferation, the more sever the liver fibrous.

ObjectiveTo evaluate the effect of high-frequency jec ventilation and bilevel positive airway pressure (BiPAP) ventilation in the severe dyspnea caused by central airway stenosis and explore the deferent application of two ventilation models.MethodsA retrospective analysis was designed to collect the serious dyspnea patients caused by central airway stenosis from January 2006 to January 2009.The patients were divided into group H and group B according to the different ventilation models,and the effect of relieving dyspnea and ameliorating hypoxemia was compared.ResultsSeven cases were in group H,and 9 cases were in group B.The therapeutic effect of relieving dyspnea was 14.29 ％(1/7) in group H.There were only 4 cases accepting high-frequency jec ventilation and the effect of relieving dyspnea was 25.00％(1/4).Two cases failed in high-frequency jec ventilation treatment and succeeded in BiPAP treatment thereafter,and 1 case failed in BiPAP treatment initially but was treated effectively by high-frequency jec ventilation after dyspnea relapsed.In group B,there were only 6 cases accepting BiPAP ventilation and the effect ofrelieving dyspnea was 83.33％ (5/6),and after adding the cases who accepting the sequential therapy of high-frequency jec ventilation and BiPAP ventilation the effect rate was 88.89％ (8/9).The difference had statistical significance(P =0.006).In ameliorating hypoxemia,the effect rate of group H was 100.00％ (7/7),of group B was 88.89％(8/9),and the difference had no statistical significance (P =0.563 ).Conclusions The high-frequency je ventilation is effective to relieve hypoxemia but is short of relieving dyspnea and subjective symptom,and it is suit for life support preoperative and intraoperative.The BiPAP ventilation is effective to relieve dyspnea and subjective symptom and hypoxemia,so the treatment effect is better than high-frequency jec ventilation,and it is suit in relieving symptom temporarily,pre-operative preparation and malignant tumor palliative treatment.

OBJECTIVE: To explore the genetic basis for a neonate featuring developmental delay. METHODS: Clinical examination and laboratory tests were carried out for the patient. Peripheral venous blood samples of the proband and his parents were extracted and subjected to target capture next generation sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a four-month-old male, has presented with developmental delay and weakness of limbs. Genetic testing revealed that he had harbored a novel c.1432C>T variant of the TNPO3 gene, which was inherited from his mother. The nonsense variant has resulted in premature termination of protein translation and was predicted to be pathogenic by bioinformatics analysis. CONCLUSION The heterozygous c.1432C>T variant of the TNPO3 gene probably underlay the limb-girdle muscular dystrophies form 1F in this patient. Above finding has enriched the variation spectrum of the TNPO3 gene.
Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Muscular Dystrophies, Limb-Girdle/genetics* ; Mutation ; Phenotype ; beta Karyopherins/genetics*