Objective To investigate the molecular genetic characteristics and clinical characteristics of severe combined immunodeficiency(SCID)in children caused by a novel mutation of interleukin 2 receptor gamma IL-2RG gene.Methods The clinical data,laboratory results and genetic testing data of a child with SCID admitted to the Department of Children's Hematology of Northwest Women and Children's Hospital were analyzed.Results A two-month-old male infant was admitted to the hospital for treatment due to recurrent infections after birth.The child's blood routine results showed that the total number of white blood cells was normal,but lymphocytes were decreased.The lymphocyte subpopulation results showed a significant decrease in the proportion of total T(CD3+),helper T(CD3+CD4+),killer T(CD3+CD8+),and NK(CD3-CD16+CD56+)lymphocytes,while the proportion of B(CD3-CD19+)lymphocytes were increased.The immunoglobulin levels showed a significant decrease in IgG,and IgM and IgA were below the lower detection limit.The patient's cytokine levels did not significantly increase during infection.In the last three generations of the mother's family,9 males died of infection within one year after birth.The whole exome sequencing results of the core family revealed a semi zygous new missense mutation[c.675 C＞A,p.S225R(p.Ser225Arg)]in the IL-2RG gene on the X chromosome(chrX:70329160)of the patient,and the mother was a carrier.Based on the above evidence,the child was diagnosed with X-SCID.Subsequently,intravenous immunoglobulin was injected monthly,and routine antibiotics and antiviral drugs were taken to prevent infection,preparing for hematopoietic stem cell transplantation.Because the child was vaccinated with BCG after birth,the child developed disseminated BCG disease at the age of 6 months.After treatment,hematopoietic stem cell transplantation was performed.Conclusion The immune function of the X-SCID patient was severely compromised,which endangered the patient's life,and vaccination with live vaccines may lead to severe infections.This study found that the c.675 C＞A mutation of the IL-2RG gene was a novel pathogenic variation of the genetic cause of X-SCID,expanding the mutation spectrum of the X-SCID pathogenic gene IL-2RG.

Objective:To investigate T cell epitope spectrum of alpha fetoprotein (AFP) restricted by 13 dominant human leukocyte antigen A (HLA-A) molecules in Chinese population.Methods:AFP T cell epitope candidates presented by 13 HLA-A molecules were in silico predicted using multiple epitope prediction algorithms. Then, the candidate epitope peptides were co-cultured in vitro with fresh peripheral blood mononuclear cells (PBMCs) from hepatocellular carcinoma (HCC) patients, followed by intracellular cytokine staining (ICS) and flow cytometry to verify the immunogenicity of the candidate epitope peptides. Peptide competition binding assay of HLA-A molecules were performed using 12 HMy2.CIR cell lines expressing the indicated HLA-A molecules to analyze the affinity and cross-restriction of candidate epitope peptides with HLA-A molecules. Results:PBMCs from 67 AFP + HCC patients were co-cultured in vitro with 42 candidate T cell epitope peptides, and the result showed that 20 epitope peptides stimulated CD8 + T cell responses (named as positive epitope peptides). Peptide competitive binding assay revealed 22 candidate epitope peptides with high affinity, 13 with inter affinity, six with low affinity, and 10 without affinity with indicated HLA-A molecules, respectively. The 20 positive epitope peptides presented high or inter affinity with corresponding HLA-A molecules and most of them displayed cross-binding properties with several HLA-A molecules. Conclusions:Twenty AFP-specific CD8 + T cell epitope peptides restricted by the predominant HLA-A molecules in Chinese population are obtained by the HCC patients-derived T-cell functional experiments, and the cross-binding ability of these epitope peptides to the corresponding HLA-A molecules is preliminary identified. These results provide systematic and fundamental data for the design of AFP-specific T cell detection systems and T cell epitope-based vaccines universal for the Chinese population.

Objective To construct a systematic evaluation model of the operation and management capacity of pub-lic hospitals,and to objectively and realistically assess the current status of the operation and management capacity of public hospitals.Methods The"input-process-output"framework was used to construct a systematic evaluation model for operation management capability.56 public hospitals at or above the secondary level were sampled to con-duct empirical research.Results The results showed that,operation management in current stage emphasized a"re-sult oriented"approach,with insufficient basic investment and unclear core activities.Increasing funding investment,strengthening hospital marketing,and improving output quality were the core tasks of operation management.The operation management were generally in the initial stage,and the overall ability was not strong.The ability advantages of tertiary hospitals were relatively prominent.Conclusion It recommended that public hospitals should focus on the five major elements of human resources,finance,information,systems and decision-making mechanisms to com-prehensively optimize operation management investment;precise core activities,and promote the modernization of the economic system by improving the efficiency of resource allocation;stimulate the potential of hospitals,medi-cal staff,and disciplines to improve the quality of comprehensive outputs.

Objective To study the effect of extended hepatectomy for hilar cholangiocarcinoma (HCCA) of the Bismuth-Corlette type Ⅲ and Ⅳ.Methods The clinical data of 73 patients with HCCA of the Bismuth-Corlette type Ⅲ and Ⅳ treated in our department from January,2008 to June,2016 were analyzed retrospectively.The extended hepatectomy group of patients consisted of 29 patients who underwent hepatectomy with half or more than half of the liver removed or/and combined with hepatic caudate lobectomy.The limited hepatectomy group consisted of 44 patients who underwent non-anatomical hepatectomy around the hepatic hilar region.Results Compared with the limited hepatectomy group,patients in the extended hepatectomy group had significantly longer operations with significantly more intraoperative blood loss.However,the complication rate was significantly lower than that of the limited hepatectomy group.There was no perioperative death in the extended hepatectomy group,while 3 perioperative deaths occurred in the limited hepatectomy group.The R0 resection rate was 93.1％ (27 of 29) for the extended hepatectomy group,while it was 54.6％ (24 of 44) for the limited hepatectomy group (P＜0.05).The 1-,3-and 5-year survival rates or the extended hepatectomy group were 81.4％,51.4％ and 19.3％,respectively while the corresponding rates for the limited hepatectomy group were 70.5％,24.4％ and 8.7％,respectively (P＜0.05).Conclusions After adequate preoperative radiological assessments on tumor resectability,and the residual liver volumes,with preoperative biliary drainage to improve liver function,extended hepatectomy effectively increased R0 resection and survival rates with improved prognosis for patients with HCCA of Bismuth-Corlette type Ⅲ and Ⅳ.

Objective To compare the effectiveness of surgical procedures (devascularization,shunt and combined shunt and devascularization) in treating recurrent variceal bleeding and other complications in patients with portal hypertension.Methods A systematic literature search was carried out on patients with portal hypertension,and a Meta-analysis was conducted using Revman 5.3 software to evaluate the effectiveness of different surgical procedures on recurrent esophageal variceal bleeding,hepatic encephalopathy,operative mortality and survival rates.Results A total of 24 trials were finally selected using predetermined inclusion criteria.Meta-analysis showed there was no significant difference among the three operations on operative mortality (P ＞ 0.05).The rebleeding rate of the combined group was significantly lower than the devascularization group (P ＜ 0.05).The encephalopathy rate of the combined group was significantly lower than the shunt group (P ＜ 0.05),and the 1-year and 3-year survival rates of the combined group were better than the devascularization group (both P ＜ 0.05),but there were no significant difference in the 5-year survival rates between these two groups (P ＞ 0.18).The 1-year and 3-year survival rates were not significantly different between the combined and the shunt groups (both P ＞ 0.05).Conclusions Combined shunt and devascularization had better therapeutic effectiveness than either devascularization alone or shunt alone in patients with portal hypertension with a high rebleeding risk.There were no significant difference among the three surgical procedures in operative mortality.The survival rates of combined surgery were significantly better than devascrlarization alone.

Objective:To investigate the clinical efficacy of extended hepatectomy for hilar cholangiocarcinoma (HCCA) of Bismuth-Cor-lette typesⅢandⅣ(the longitudinal invasion degree along the biliary system is the main criteria). Methods:The clinical data of 61 patients with HCCA of Bismuth-Corlette types III and IV admitted in the Department of Hepatobiliary Surgery of the First Affiliated Hos-pital of Bengbu Medical College from January 2008 to May 2015 were analyzed retrospectively. Among the 61 cases, 22 underwent hepatectomy with half or over half of the liver removed or hepatic caudate lobectomy (regarded as the extended hepatectomy group), whereas 39 cases underwent irregular hepatectomy on the hepatic hilar region (regarded as the limited hepatectomy group). Results:Compared with those in the limited hepatectomy group, the patients in the extended hepatectomy group underwent longer duration of operation and experienced more bleeding during the procedure. The complication incidence rate for the extended hepatectomy group was lower than that for the limited hepatectomy group. No patient died during the perioperative period in the extended hepa-tectomy group, whereas two patients died in the limited hepatectomy group. Moreover, R0 resection was performed on 21 cases in the extended hepatectomy group, with a resection rate of (21/22) 95.5%, and on 20 cases in the limited hepatectomy group (P<0.05), with a resection rate of (20/39) 51.3%. Actuarial 1-, 3-, and 5-year survival rates were 77.27%, 36.36%, and 13.64%, respectively, in the extended hepatectomy group, and 69.23%, 20.51%, and 1.64%, respectively, in the limited hepatectomy group (P<0.05). Conclusion:Extended hepatectomy for patients with HCCA of Bismuth-Corlette typesⅢandⅣcould effectively increase the resection rates of R0 and the survival rate. Meanwhile, the prognosis of patients could be improved.

Objective:To estimate the pharmacokinetics for two solution types of propofol glycoside in-jections in rats .Methods:A high performance liquid chromatography-high resolution mass spectrometry ( HPLC-MS) was established for measuring propofol in rat plasma .Two kinds of propofol glycoside injec-tions were developed and intravenously administered to rats via tail vein , respectively , and a commercial-ly available propofol emulsion injection was intravenously administered as a control .Propofol plasma concentration-time curves were determined , and the pharmacokinetic parameters were estimated .Re-sults:HPLC-MS measurement was performed by using a quadrupole-orbit trap high-resolution mass spec-trometer on a C18 chromatographic column.The mobile phase consisted of water and methanol (20∶80, V/V) .The ion source was an atmospheric pressure chemical ion source , and the negative ion was used for detection with a scanning mode of selective ion monitoring in which m/z 177.127 4 was used for propofol and m/z 149.096 1 used for thymol as an internal standard .A linear correlation between con-centration and peak area ratio was constructed in the range of 50 μg/L-10.0 mg/L propofol.The limit of quantification was 50μg/L propofol .The average recoveries of propofol from plasma were in the range of 93.6% -101.1%, and intra-day or inter-day relative standard deviation for measurement was <14%.The pharmacokinetic results showed that the two kinds of propofol glycoside injections exhibited the same pharmacokinetic behavior .However, the clearance and area under curve values of propofol for the two propofol glycoside injections were evidently increased as compared with those for propofol emulsion injection, respectively.Furthermore, their apparent distribution volumes were increased as well .Never-theless, the propofol elimination half-life (t1/2) value of the newly developed propofol glycoside injections was the same as that of commercial propofol emulsion injection (approximately 1.5 h).Conclusion:The established HPLC-MS method can be used for measuring propofol concentration accurately in rat plasma . The clearance and distribution volumes of propofol glycoside injection are bigger than those of the propofol emulsion injection .

OBJECTIVETo analyze pupils' neglect status aged 6-11 years in China's rural.

METHODSAccording to the principle of multi-stage stratified cluster sampling, to extract 7,943 pupils aged 6-11 years for the survey from 56 primary schools in 28 counties in nine provinces, from December 2012 to March 2013. Proceed questionnaire survey by the scale from "Neglect Evaluation Norms for pupils aged 6-8 years in Rural Areas of China" and "Neglect Evaluation Norms for pupils aged 9-11 years in Rural Areas of China". And analyze neglect rates and neglect degrees of the different grades, gender, family types and different levels of neglect.

RESULTSThe total neglect rate of China's rural pupils aged 6-8 and 9-11 years was 40.2% (1,258/3,130) and 42.5% (1,498/3,526) respectively, which differences had no statistical significant (χ2=3.59, P=0.058); the total neglect degree was 46.04±8.87 and 44.78±10.43 respectively, which differences had statistical significant (t=5.01, P<0.001); the differences of neglect rates and neglect degrees between male (41.4% (657/1,587) and 46.28±8.76) and female (39.0% (601/1,543) and 45.78±8.97) of aged 6-8 were all no statistical significant (χ2=1.87, P=0.171; t=1.49, P=0.136); the neglect rates and neglect degrees of male (46.3% (816/1,763) and 45.53±10.11) were higher than female (38.7% (682/1,763) and 44.06±10.69) in the group of aged 9-11, which differences were all statistical significant (χ2=20.84, t=3.97, P<0.001); the male neglect rate in the group of aged 6-8 in social neglect (11.7% (198/1,691)) and the neglect degree in educational neglect (48.09±9.70) were higher than female (9.4% (155/1,648) and 47.37±9.89), which differences were all statistical significance (χ2=14.55, P<0.001, t=2.22, P=0.026), the male neglect rate in the group of aged 9-11 in physical neglect (20.4% (398/1,954)) was higher than female (16.7% (326/1 957)), which differences had statistical significance (χ2=8.92, P=0.003).

CONCLUSIONThe neglect status of Chinese pupils aged 6-11 years in rural was serious, and we should find out risk factors and provide efficient prevention measures.

Child ; Child Abuse ; China ; Female ; Humans ; Male ; Physical Examination ; Pupil ; Risk Factors ; Rural Population ; Schools ; Surveys and Questionnaires

OBJECTIVETo develop a standard Neglect Evaluation Scale which is suitable for rural primary school students in China.

METHODSAccording to the principle of multi-stage stratified cluster sampling, a field investigation was conducted among primary school students in 28 counties from 7 provinces and 2 municipalities. The questionnaires were self-designed, and determined by multiple rounds of pilots and revisions. Among 5 862 students, 2 792 (6-8 years' old) and 3 070 (9-11 years' old) were investigated by using two kinds of Neglect Evaluation questionnaires, respectively. After project analysis, factor analysis, reliability and validity analysis, the reliability and stability of the scale were tested. Then percentile method was used to determine the evaluation standard to develop and finalize the formal scale.

RESULTSThe numbers of the remaining items for 6-8 year-old group and 9-11 year-old group is 69 and 58, respectively, both of which contain six levels of neglect, including body, emotion, health care, education, security, and society. 4 times of factor analysis were conducted in both of the two groups. The factor loadings in these two groups were 0.290-0.700 and 0.276-0.729 respectively. Reliability test results showed that the two kinds of scales' Cronbach alpha coefficient were 0.924 and 0.929 respectively, split-half reliability were 0.891 and 0.904 respectively, the retest reliability were 0.559 and 0.892 respectively, the differences were statistically significant (P < 0.05). The retest reliability among 6-8 year-old group in medical neglect level had no statistical significance, but was close to the cut-off point (P = 0.054). The test results of external validity indicated that both of the two scales could reflect the neglect status of the subjects (P < 0.05), but the subjective and objective evaluation towards neglect were not consistent. The cut-off points for judging whether the children were neglected or not among 6-8 year-old and 9-11 year-old groups were 159 and 137 respectively; and the adjusted values were 160 and 135 respectively.

CONCLUSIONThe two norm scales developed by this study showed good discriminability, reliability, validity, and stability. The norms developed on the basis of the scales was suitable for the situation of rural students in primary schools in China.

Child ; Child Abuse ; China ; Factor Analysis, Statistical ; Humans ; Reproducibility of Results ; Rural Population ; Schools ; Students ; Surveys and Questionnaires

Objective To study the prognosis of neonatal hyperthyrotropinemia (HT). Methods Children with HT were followed up regularly to evaluate the growth index, thyroid function and effectiveness of treatment. Results One hundred and ninety-one neonates with serum TSH level of 5.6~10 mU/L at the screening were followed up until 24 months old. Serum TSH gradually returned to normal range in 182 cases. Serum TSH increased to be>10 mU/L in 5 cases who were treated with levothy-roxine sodium. Serum TSH lfuctuated between 5.6 and 10 mU/L in 4 cases who were continually followed up. Among 44 cases of serum TSH at 10~20mU/L, serum TSH gradually returned to normal range after levothyroxine sodium treatment in 38 cases;se-rum TSH increased to>20 mU/L in 7 cases for whom continuous treatment with levothyroxine sodium was required. In 242 cases of HT neonates, 18 cases had received continuous levothyroxine sodium replacement treatment for 2 years and were followed-up continuously. Conclusions Most of the newborns with HT recover within 2 years, while a few develop thyroid dysfunction and require follow-ups.