Objective To study the preventive effect ofω-6 soybean oil fatty emulsion on gastric ulcer caused by acetic acid in rat model, and investigate its mechanisms. Methods Thirty healthy rats were randomly and equally assigned to the following 3 groups:sham operation,gastric ulcer,andω-6 Soybean oil fatty emulsion group.The model was induced by acetic acid. Five days after the model was established successfully,rats in ω-6 soybean oil group received the treatment by tail intravenous injection with the dose of 10 mL.kg-1 .d-1 ,the sham operation group and gastric ulcer group were given the same dose of 0.9%sodium chloride solution.The rats were sacrificed at 10th day after the treatment.The pathological changes of rat gastric ulcer tissue were observed by HE staining, and the concentration of gastric acid was detected by acid-base neutralization method,as well as the activity of pepsin was detected by colorimetry.Serum NO concentration was detected with nitrate reductive enzymatic method, and the expression of EGFR in gastric mucosal was detected with immunohistochemical method. Results Gastric ulcer area inω-6 soybean oil fatty emulsion group (5.67±2.32 mm2) was significantly lower than that in gastric ulcer group(8.68±1.98 mm2). The concentration of gastric acid (1.70±0.53 mmol.L-1), activity of pepsin(23.12±6.97 U) and NO level (64.62±13.86μmol.L-1 ) inω-6 soybean oil fatty emulsion group were much lower than those in the model control group.While the expression of EGFR in gastric ulcer tissue was increased after treatment withω-6 soybean oil fatty emulsion. Conclusion ω-6 soybean oil fatty emulsion exerts significant promotion effect on the healing of gastric ulcer,and its mechanism might be related to inhibiting the level of gastric acid, pepsin and NO, while improving the protective effect of EGFR on gastric mucosa.

Objective to investigate the protective effect of omega-3 fish oil fat emulsion on cyclophosphamide-induced gastric mucosal injury in mice. Methods Forty-five kunming mice were randomly divided into three groups as control,model,and omega-3 fish oil fat emulsion group(with 15 mice in each group). Mice of the two experiment groups were administrated with cyclophosphamide i.p. for 2 days to establish the damage model. then mice in omega-3 fish oil fat emulsion group received omega-3 fish oil fat emulsion at a dose of 15 mL/kg daily for 14 days. Meanwhile,the ani-mals in control group and model group were intravenously administered with the same volume of saline. the weight and food intake of the mice in each group were assessed daily. Five mice in each group were respectively sacrificed at day 1,day 7,day 14 after intravenous injection. Morphology of gastric mucosa was observed by HE staining and the activities of SOD and MAO in gastric mucosa were measured respectively by xanthine oxida-tion and ultraviolet spectrophotometry methods. Results Compared with the model group,the general status,nutritional status and the injury in stomach mucosa in omega-3 fish oil fat emulsion group were significantly improved. After 14 day′s treatment,the activities of SOD and MAO in gas-tric mucosa of mice in omega-3 fish oil fat emulsion group were significantly increased(P < 0.05)compared with model group. Conclusion omega-3 fish oil fat emulsion has a significant protective effect on the cyclophosphamide induced injury in gastric mucosa of mice,which may be related to the upregulation of MAO and SOD.

Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.