Objective To introduce the application of SwissDock in prediction of protein and small molecule docking , and provide reference for usage of SwissDock.Methods Chooseing baicalin (small molecule) and BMPRII (target protein) as study objects, operation processes of SwissDock system were described in detail and results were analyzed.Results The prediction result of SwissDock systew demonstrates that ASN338 is found as the binding site of docking, and the distance between ASN338 and baicalin is 3.5?and G=-13.17 kcal/mol.Conclusion SwissDock can help usersto submit dockings and retrieve predicted complexes.The system including simple operation interface and good human-computer interaction, it will be a powerful tool for researches of molecular recognition on the atomic scale .

OBJECTIVE: To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2). METHODS: Clinical features of the child were analyzed. Next generation sequencing was also carried out for him. RESULTS: The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother. CONCLUSION The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.
Child ; Exons/genetics* ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Liver Failure ; Male ; Mutation

Objective:To understand the clinical and genetic characteristics of hereditary spherocytosis (HS) combined with cholestasis among pediatric patients.Methods:12 cases of HS children accompanied by cholestasis at Hunan Children's Hospital were selected as the research subjects between January 2013 and December 2022. Clinical data were collected. Whole-exome sequencing was performed by second-generation sequencing. Suspected pathogenic mutation sites were verified by Sanger sequencing.Results:All pediatric patients were admitted to the hospital due to their yellow skin tone. Eight cases (66.67%) had a positive family history. The clinical manifestations were jaundice, splenomegaly (12/12), abdominal pain, anemia (4/12), and hepatomegaly (5/12). All pediatric patients had decreased hemoglobin, an increased reticulocyte ratio, total bilirubin and direct bilirubin, a positive erythrocyte fragility test, and remarkable spherical erythrocytes in their peripheral blood. Seven cases had elevated aminotransferase; four cases had severely elevated aminotransferase and bilirubin; eight cases had biliary calculi; and two cases had a dilated biliary tract. Liver pathological examination showed mild damage to the liver cells (G1S1) in three pediatric cases. Five children had a total of six unreported mutations: SPTB gene c.2431_2450del, c.4974-2A > G, c.2575G > A, and exon 22-35 deletion; ANK1 gene: c.2379-2380delC; and c .6dupC. Children still had abnormal bilirubin levels following treatment. Two pediatric cases underwent splenectomy. Bilirubin and hemoglobin levels returned to normal after surgery. Conclusion:Children with HS may experience cholestasis, and those with poor treatment results may consider undergoing a splenectomy. Six new types of variants have expanded the HS gene mutation spectrum.

Objective:To investigate the etiology, prognosis and prognostic factors of pediatric acute liver failure(PALF), in order to provide the basis for clinical treatment of PALF.Methods:The clinical data of children with PALF hospitalized at Hunan Children′s Hospital from May 2008 to May 2018 were collected, and the causes and prognosis were analyzed.According to the prognosis, the patients were divided into the death group and the survival group, whose biochemical indexes were then compared.After that, the statistical analysis of different data were carried out by using t-test, Wilcoxon test and χ2 test separately. Results:In 120 PALF cases, there were 68 males and 52 females, and there were 36 infants, 34 toddlers, 22 preschoolers and 28 school-age children.Twenty cases (16.7%) were caused by sepsis, 19 cases (15.8%) by genetic metabolic diseases, 18 cases (15.0%) by poisoning, 12 cases (10.0%) by viral infection, 6 cases (5.0%) by drugs, 1 case (0.8%) by bile polyp, and 1 case (0.8%) by tumor disease.Besides, the etiology of 43 cases (35.9%) was unknown.Among the cases with known etiologies, genetic metabolic and infectious diseases were the main cause of disease in infants, toddler patients were mostly caused by infectious diseases and drug/toxicants, and drug/toxicants and hereditary metabolic diseases were the dominant cause of disease in school-age children and preschoolers.Mortality rate of children with PALF was 50.0%.Among them, the mortality of Epstein-Barr virus-associated hemophagocytic syndrome, sepsis, Citrin deficiency and Tyrosinemia was higher than that of other diseases.Compared with the survival group, the total bilirubin (TB)[159.00(73.05, 274.00) μmol/L vs.62.75(2.65, 221.75)μmol/L], direct bilirubin(DB)[83.00(41.43, 160.00) μmol/L vs.38.74(10.98, 128.75) μmol/L], prothrombin time (PT)[39.60(24.93, 62.60) s vs.24.65(21.43, 29.83) s], international standardized ratio (INR)[3.40(2.30, 6.74) vs.2.09(1.85, 2.84)], and blood ammonia (NH 3) levels [109.50(85.25, 149.75) μmol/L vs.80.00(60.25, 102.75) μmol/L] in the death group were significantly increased, and the diffe-rences were statistically significant(all P<0.05); while the levels of albumin[(28.72±5.88) g/L vs.(33.69±4.96) g/L], alanine aminotransferase (ALT) [586.50(223.25, 1 082.00) U/L vs.1 434.00(615.00, 3 334.50) U/L]and aspartate aminotransferase (AST) [827.50(545.00, 2 024.00) U/L vs.1 663.50(821.00, 4 886.75) U/L]in the death group were significantly decreased, and the differences were statistically significant(all P<0.05). However, the blood glucose and cholesterol levels in both groups had no statistically significant difference. Conclusion:The mortality of children with PALF is high, and different age groups have different etiologies.The increase of TB, DB, PT, INR, NH3 and the ratio of hepatic encephalopathy, and the decrease of albumin, AST and ALT suggest poor prognosis.

Objective:To explore the characteristics of SLCO1B1/ SLCO1B3 gene variants among children with Rotor syndrome (RS). Methods:Four children who were admitted to the Department of Hepatology of Hunan Children′s Hospital between January 2019 and January 2022 were selected as the study subjects. Trio-whole exome sequencing was carried out for the four families, and gel electrophoresis was used to verify an insertional variant of long-interspersed element-1 (LINE-1).Results:Genetic testing has identified three variants of the SLCO1B1 gene, including c. 1738C>T (p.R580*), c. 757C>T (p.R253*) and c. 1622A>C (p.Q541P), and two variants of the SLCO1B3 gene, including c. 481+ 22insLINE-1 and c. 1747+ 1G>A among the children. Three of them were found to harbor homozygous variants of the SLCO1B1/ SLCO1B3 genes, and one has harbored compound heterozygous variants. Sanger sequencing confirmed the existence of all variants, and gel electrophoresis has confirmed the existence of the LINE-1 insertional variant of about 6 kb within intron 6 of the SLCO1B3 gene in all children. Conclusion:The pathogenesis of the RS among the four children may be attributed to the variants of the SLCO1B1/ SLCO1B3 genes. The LINE-1 insertion variant of the SLCO1B3 gene may be common among Chinese RS patients.

Objective: To investigate the clinical features of children with infectious mononucleosis (IM), to compare the difference of therapeutic effects between general treatment to antiviral therapy for IM. Methods: This prospective study analyzed the clinical data and laboratory test results of 201 cases with IM in our hospital from January 1, 2016 to December 31, 2016. The follow-up period was 6-12 months. The patients were divided into two groups according to the order of admission. The clinical symptoms and laboratory test results of the two groups were observed after hospitalization. Results: Of the total of 201 patients, male to female is 1.72∶1; Age: 8 months to 13 years 6 months (average 4.8±2.8 years), The disease frequently occurred in summer and autumn, accounted for 64.18%.The major clinical manifestations was fever (97.51%), angina (79.10%), enlarged of lymph node(68.66%), eyelid swelling (67.16%), hepatomegaly (53.73%) and splenomegaly (46.77%). There was no statistical difference in duration of fever, improved angina time, lymph nodes(liver, spleen) enlargement recovery time, heterotypic lymphocytes normalization time, lymphocyte function normalization time.There was significant difference in reducing the serum/plasma or total blood EBV-DNA in the short term between antiviral group and general treatment group (P<0.01), but for the long-term reduction of EBV-DNA, there was no significant difference (P>0.05). The low affinity EBV-CA-IgG was converted to high affinity EBV-CA-IgG in 89.41% of patients after 3 months and in 98.68% of patients after 6 months. With the recovery of the disease, the positive rate of EBV-CA-IgM and EBV-EA-IgG decreased. But the positive rate of EBV-NA-IgG increased. Serum/plasma EBV-DNA was completely overcast after 3 months, but after 12 months, the patient’s total blood EBV-DNA positive rate was still 71.11%. Conclusions In general IM patients, there was no significant difference between antiviral therapy and general treatment, so antiviral therapy is not generally recommended. EBV DNA in the whole blood of patients with IM will continue to be positive more than 6-12 months, indicating that to observe changes of IM should not use whole blood samples for EBV DNA testing.