Objective:To report a case of developmental epileptic encephalopathy caused by CACNA1E gene mutation and explore C Clinical phenotype and prognosis of 2069G>A (p.Gly690Asp) locus.Methods:The clinical data and follow-up of a case of developmental epilepsy related to CACNA1E gene mutation admitted to the Maternity And Children Health Hospital of Xiangtan City in September 2020 were summarized and analyzed.Results:The male patient, with delayed intellectual and motor development, sought medical attention and gradually developed seizures. The genetic results showed that the CACNA1E gene c. 2069G>A (p.Gly690Asp) was a newly discovered variant, and the parental site was a wild-type. Based on clinical manifestations, the diagnosis was a pathogenic variant.Conclusions:Developmental epileptic encephalopathy caused by mutations in the CACNA1E gene can have intellectual and motor impairments as the initial manifestation; Site C 2069G>A (p.Gly690Asp) presents with severe epilepsy and poor prognosis, with the possibility of brain atrophy. The combination of valproic acid and clonazepam may be effective in treating epilepsy.

Objective To understand the genetic variations of neuraminidase (NA) genes of avian influenza virus H9N2 in Weining,Guizhou Province,and to provide the scientific evidence for the prevention and control of avian influenza virus.Methods Ribonucleic acids (RNA) were extracted and NA genes were amplified and sequenced from 13 randomly selected H9N2 positive samples from the live poultry market (LPM)environments in north of Weining Yi and Hui and Miao autonomous county (Weining),Guizhou Province during 2015 to 2017.Then the homology,genetic evolution,and sites of stalk deletion areas,potential N-glycosylation,receptor binding regions and drug resistance of H9N2 subtype avian influenza viruses were analyzed by a series of bioinformation software.Results Homology analysis revealed that there were 93.0％-100.0％ and 92.1％-100.0％ similarity among 13 strains H9N2 avian influenza viruses in nucleotide and amino acid of the NA gene,respectively.All strains belonged to DK/HK/Y280/97 sub-lineage,but their genetic sources were complex and diverse.Thirteen strains had a stalk deletion of 3 amino acid residues TEI at positions 63-65 and 3 isolates had mutation QN to QK at positions 39-40.The potential N-glycosylation sites at amino acid residues 86,146,200,and 234 of the NA protein of all strains were highly conserved,while other N-glycosylation sites had quantity and site mutations.There were different mutation types at the three sialic acid binding site areas,especially at 399-404 area.All NA protease activity sites and key sites of the 13 strains had no mutations associated with resistance to the neuraminidase inhibitor drugs.Conclusions All 13 strains H9N2 viruses belongs to DK/HK/Y280/97 sub-lineage in Weining,Guizhou Province during 2015-2017,and their genetic sources are complex and diverse.The mutations on sites of stalk areas,potential N-glycosylation and sialic acid binding site areas are presented at different degrees.Hence,enhancing surveillance and controlling H9N2 avian influenza virus is necessary.

Objective: To investigate the molecular characteristics and tracing of the hemagglutinin (HA) gene, and to analyze the risk of human infection with influenza virus A (H7N9) in Guizhou Province, so that to provide evidence for the prevention and control of highly pathogenic avian influenza A (H7N9). Methods: Nucleic acids of 5 strains of H7N9 including 1 sample of the patient′s nasopharyngeal swab and 4 samples of the live poultry market (LPM) environment were extracted and HA genes were amplified and sequenced. Then the homology, genetic evolution and the pivotal sites related to receptor binding regions, pathogenicity and potential glycosylation of the avian influenza A (H7N9) viruses were analyzed by a series of bioinformatics softwares. Results: Homology analysis revealed that the homologies of nucleotide and amino-acid of the HA gene of H7N9 strains from the patient and LPM in Weining County, Guizhou Province were 99.8% and 99.6%, respectively, while those of 4 strains from LPM were both 100%. The homologies of nucleotide and amino-acid of the HA gene of H7N9 strains were the highest with the strain of A/Guangxi/5/2017 isolated from a Guangxi infected patient (99.7%-99.9% and 99.4%-99.8%, respectively), while those with the strain isolated from LPMs environment at the end of 2016 (A/Environment/Guangdong/C16283222/2016) were 99.0%-99.2% and 98.9%-99.2%, respectively. However, the homologies of nucleotide and amino-acid of the HA gene of H7N9 strains with A/Shanghai/2/2013 recommended by world health organization and the candidate vaccine strain A/Anhui/1/2013 were 96.8%-97.0% and 95.8%-96.2%, respectively. Phylogenetic analysis showed that the 5 strains had the nearest genetic distance to the strain A/Guangxi/5/2017. All the 5 strains cleavage site sequences of HA protein showed mutation of PEVPKRKRTAR↓GLF, and they were highly pathogenic avian influenza viruses mutant strains, which all had mutation of G186V at the receptor binding sites of HA gene, while no Q226L mutation was found. All 5 strains had new mutation of A363S, and new mutations of R56K and I297V were only found in the strain isolated from the patient. Among the five potential glycosylation motifs in the HA, only 421NWT and 493NNT had variation of the position post shift. Conclusions All the 5 H7N9 strains isolated in Weining County, Guizhou Province are highly pathogenic avian influenza mutative viruses. The current candidate vaccine may not provide a very good protection. The mutations of cleavage site of HA protein, G186V as well as other new mutation sites of HA may enhance the susceptibility and pathogenicity to human beings.

OBJECTIVE To explore the improvement mechanism of proanthocyanidins on acute kidney injury （AKI） induced by gentamicin in rats. METHODS Gentamicin sulfate was injected intraperitoneally to construct the AKI rat model； the model rats were randomly divided into model control group， benazepril hydrochloride 5 mg/kg group （positive control）， proanthocyanidins 50 mg/kg group， proanthocyanidins 100 mg/kg group， and proanthocyanidins 200 mg/kg group， with 10 rats in each group； in addition， 10 normal rats were selected to be treated as the normal control group. The rats in each administration group were given corresponding liquid intragastrically， and the normal control group and model control group were given equal volumes of normal saline intragastrically， once a day， for 28 consecutive days. After the last administration， the levels of serum creatinine （SCr）， blood urea nitrogen （BUN）， malondialdehyde （MDA）， superoxide dismutase （SOD）， glutathione peroxidase （GSH-Px） and 24 h urinary protein （UP） were detected； the renal index was calculated； the pathological changes of renal tissue were observed and the pathological score was calculated； the apoptotic rate of cells in renal tissue and the expression levels of Caspase-3 and Bcl-2 associated X protein （Bax）， as well as the phosphorylation levels of silent information regulator of transcription 1 （SIRT1） and AMP-activated protein kinase （AMPK） were detected. RESULTS Compared with the model control group， the levels of SCr， BUN， UP and MDA， the renal index， the pathological score of renal tissue， the apoptotic rate of cells in renal tissue， the protein expression levels of Caspase-3 and Bax in renal tissue of rats in each administration group were decreased significantly； SOD and GSH-Px levels， phosphorylation levels of SIRT1 and AMPK protein were increased significantly （P＜0.05）， and the effect of proanthocyanidins was in a dose-dependent manner （P＜0.05）. There were no significant differences in the above indexes between proanthocyanidins 200 mg/kg group and benazepril hydrochloride 5 mg/kg group （P＞0.05）. CONCLUSIONS The improvement effect of proanthocyanidins on AKI rats may be related to the activation of SIRT1/AMPK signaling pathway to inhibit oxidative stress.