Objective:To observe the effects of hyperoxiaon the changes of pulmonary histology and surfactant protein gene expression.Methods:SD newborns which less than 6 h old were randomly divided into 2 groups:normal air control group and hyperoxia group.The lungs of rats were removed at the time points 1,4,7,14 d,histopathological changes of the lung tissues were examined by HE staining and the lung factor were calculated(lung weight/body weight ?100%);the expression of all surfactant protein genes were detected by semi-quantitative reverse transcription-polymerase chain reaction(RT-PCR).Results:To compare with corresponding air control group,in hyperoxia group,the body weight is significantly deceased after 14 days of hyperoxia exposure(P0.05),and began to significantly decreased at 14 d(P

Objective To evaluate the clinical effect of therapy of the trisacryl gelatin microspheres combinee the gelatin sponge particle on embolize the bronchial artery in acute massive hemoptic patients. Methods One huneree cases with massive hemoptysis were selectee as our subjects ane eivieee into control ane research group(n = 50 for each group). Patients in control group were given only gelatin sponge particle,ane in research group were given the trisacryl gelatin microspheres combinee the gelatin sponge particle to embolize the bronchial artery. All cases were followee up for more than 12 months. Ane the effect of therapy was recoreee. Results In research group,42 cases(84. 0% ,42 / 50)were got the bleeeing stop immeeiately after embolization,7 cases in 72 h(14. 0% ,7 / 50),ane the effective rate of hemostasis was 98. 0%(49 / 50). In the control group,41 case(82. 0% ,41 / 50)were got the stop bleeeing immeeiately,8 cases in 72 h(16. 0% , 8 / 50),ane the effective rate of hemostasis was 98. 0%(49 / 50). There was no statistic eifference between two groups(P > 0. 05). After more than one year follow-up,3 cases(6. 12% )were reoccurree in the therapy group ane 15 cases(30. 61% )was in the control group. The eifference was significant between two groups after surgery for one year( χ2 = 9. 801,P < 0. 01 ). There was no serious complication in patients of two groups. Conclusion The operation of BAE is effective therapy for the massive hemoptoe,ane it is provee to be a safe,effective ane lower rate of recurrence approach of the trisacryl gelatin microspheres combinee the gelatin sponge particle for eouble embolzation the bronchial artery.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members. RESULTS: The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%. CONCLUSION The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.
Epilepsy/genetics* ; Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics* ; Pedigree ; Phenotype ; Seizures, Febrile/genetics*

Objective:To summarize the clinical and genetic characteristics of children with epilepsy associated with SCN2A gene variations. Methods:A retrospective study was performed. Eleven children with epilepsy admitted to Department of Pediatric Neurology, Linyi People's Hospital from January 2017 to December 2022 were included; all of them had pathogenic SCN2A gene mutation. Genetic results and clinical data as epileptic seizure type/frequency, intelligence and motor development of these 11 children were collected. Epilepsy-related variations and pathogenesis of SCN2A gene were analyzed, and their correlations with clinical phenotypes in these children were analyzed. Results:Among the 11 patients, 6 had self-limited epilepsy (4 with variation in the intracellular domain and 2 in the transmembrane domain), 1 had febrile convulsion accompanied by childhood absent epilepsy (with variation in the intracellular domain), and 4 had developmental epileptic encephalopathy (2 with variation in the extracellular domain and 2 with variation in the transmembrane domain). SCN2A gene was missense mutation in these 11 children, and the mutation site in 6 children was not reported before. Various forms of video EEG discharge were noted, and 1 child with self-limited epilepsy showed transient multifocal epileptic discharge during frequent seizures. Oxcarbazepine and topiramate were effective for self-limiting epilepsy, and lamotrigine was effective in 1 child with late-onset epileptic encephalopathy. Eleven patients were followed up for (66±32) months; the age ranged from 8 months to 11 years and 6 months at the last follow-up; 10 patients had seizure remission and 1 had uncontrolled seizure. Conclusions:Besides self-limited epilepsy and developmental epileptic encephalopathy, SCN2A gene mutations are also associated with febrile convulsion and childhood absent epilepsy. Phenotypic differences are highly correlated with mutation locations; developmental epileptic encephalopathy associated variants are mostly located in extracellular domains, while self-limited epileptic variants are mostly located in intracellular domains.