Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease typeⅡ(GSDⅡ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSDⅡchild, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ.

SUMMARY Breastfeeding has been recognized as the most natural and nutritious way of feeding babies . Besides the nutritional , immunological and emotional benefits , breastfeeding promotes a healthy stomatog-nathic system .First of all, the nutrients and minerals in maternal milk are easy to be absorbed by the infants, which contributes to the mineralization of the teeth , and suppress the propagation of bacteria on the teeth.Though the jury is still out on whether breastfeeding can prevent Early Childhood Caries (ECC), it is definite that we should pay attention to feeding at night and the oral hygiene of the babies . Secondly , the method of feeding is closely bound up with the development of dentition and jaw .Breast-and bottle-feeding involve different orofacial muscles , which possibly have different effects on the harmo-nic growth of maxilla and dental arches .Meanwhile , breathing , swallowing and mastication should be developing in harmony , and differences exist in the learning of the coordinated movement between breast feeding and bottle feeding children .Bottle feeding had been proved to be closely related with the non-nutritive sucking habits which can cause malocclusion .At last, it should be pointed out that breast fee-ding should be the only feeding source in the first 6 months of life, then supplementary foods should be added .And prolonged bottle feeding should be avoided .We can see that breast feeding is definitely good for the infants , but the reality is not optimistic in our country .

The Non-neuronal Acetylcholine System,including acetylcholine(NNAs),choline acetyltransferase,acetylcholinesterase,muscarinic and nicotinic ACh receptors,has been identified in numerous non-neuronal cells and tissues,including keratinocytes,cancer cells,immune cells and reproductive organs.NNAs is involved in regulation of their function and related to the pathophysiology of several diseases.This review investigates the research progress of NNAs and describes the structure and function of NNAs in different cells,such as glial cell,endothelium,epithelia and lymphocyte.NNAs is not the same as neuronal acetylcholine system,neither is the same in different cells.

Objective To explore the inhibitory effects of RNAi targeting survivin to suppress the expression of survivin and to induce the apoptosis of human renal cancer cell line 786-O.Methods The target gene fragments were cloned into pcDNATM 6.2-GW/EmGFPmiR vectors,and then the recombinant eukaryotic expression vectors were transfected into 786-O cells with liposomes.The expression changes in survivin mRNA and protein were detected by RT-PCR and immunohistochemical assay,and the proliferation inhibitory rate (IR) of 786-O cells was detected by M'TT assay.Results The mRNA and protein expressions of survivin in the siRNA group were significantly inhibited by the eukaryotic expression vectors,and it also inhibited significantly the growth and proliferation of 786-O cells.Conclusion Silencing survivin gene by the RNAi technique can not only effectively decrease the expressions of survivin gene and protein,but also inhibit the cell proliferation in 786-O cells.This may provide the experimental evidence for the survivin gene as a target of gene therapy in renal cancer.

Objective To investigate whether preemptive intrathecal administration of CRH has an antinociceptive efficacy on inflammatory pain model rats. Methods The antinociceptive efficacy of preemptive intrathecal administration of CRH was evaluated by the flinch-licking time and the tail flicking latency in formalin-subjected pain model rats. The c-fos gene expression in spinal cord dorsal horn was analyzed by immunohistochemical technique and computer image technique. Results Comparing with NS control group, preemptive intrathecal administration of 0.5 ?g CRH could markedly inhibit the phase Ⅱpain reaction and meanwhile decrease c-fos gene expression by 25.02% in the superficial lamella of spinal cord dorsal horn of the model rats. The antinociceptive efficacy could be counteracted by preemptive intraperitoneal injection of CP-154526 (the specific antibody of CRHR1, 10 mg/kg). Conclusion CRH could significantly inhibit pain reaction and spinal cord c-fos gene expression, and thereby preemptive intrathecal administration of CRH will contribute to the antinociceptive efficacy because of its potency of inhibiting hyperalgesia.

A series of activities on popularization of health sciences including nutrition and food safety, healthy lifestyle promotion, prevention and control of major infectious diseases, and decipher-ing the mystery of life have been carried out by Center for Laboratory teaching and management of Chongqing Medical University, using quality resources of teaching and scientific research, in order to explore the effective mode and long lasting mechanisms of work in popularization of sciences in higher education institutions. A combined method of quantification and qualification has been applied to sci-entifically evaluate the effect of the activities, and the results indicated that huge potentials and adva-ntages of higher education institutions existed in the field of popularization of sciences through coherent management system of the institution, as well as arousing the enthusiasm of teachers and students to take part in the activities.

Objective To compare the diagnostic values of different parameters for neonatal sepsis by observing clinical presentations and laboratory tests of hospitalized newborn infants and to find out the the early and fast way in neonatal sepsis diagnosis. Methods Newborn infants admitted to NICU from Sept.2007 to Feb.2008,who met all inclusion and exclusion criteria,were enrolled.The situations in perinatal period,exact time of the onset of infection,clinical manifestations and laboratory indexes were recorded.Infants were classified into 3 groups:septic group(n=13),nonseptic group(n=12) and noninfectious group(n=12).Sensitivity,specificity,false positive rate,false negative rate,Youden's index and positive and negative predictive values(PPV and NPV) were calculated for each test. Receiver-operating characteristic curves were analyzed to determine the optimal thresholds. Results Among all the clinical manifestations,abnormal reaction had the hightest specificity(84.6%) and accuracy(67.9%) in diagnosing neonatal sepsis.SIRS criteria,with the specificity of 95.8%,was helpful in clinical suspected eases.However,routine laboratory tests,such as WBC,PLT and GLU,had poor sensitivity or specificity;I/T had better specificity(100%),but was subject to discrepancy among different observers.The area under the ROC for CRP and PCT were 0.734 and 0.878,with the optimal threshold of 15 mg/L(P=0.020,Youden's index=45.5%) and 0.81 ng/ml(P-0.000,specificity=100%,Youden's index=75.0%),respectively.Conclusions Careful clinical inspection warrants early detection of sick infants.Evaluation of SIRS criteria in clinical suspected septic infants may help in early diagnosis.WBC,I/T,PLT can be used as routinely monitoring indexes for high risk neonates.CRP and PCT concentrations also have significant diagnostic values.

Objective To investigate the correlation between fasting plasma glucose(FPG)and body mass index(BMI)among examination groups in Baoji area.Methods 55 328 cases of medical examination were measured height,weight and calculated BMI,then these were detected FPG,the test results were analyzed by statistics.Results The levels of FPG and BMI were significant differences between different gender groups and different age groups;Male and female with abnormal FPG detec-tion rates were 9.90%,5.50%;FPG abnormal detection rate of male higher than female (χ2=335.47,P<0.005).The sub-j ects were divided into four groups according to their BMI:low-weight,normal,overweight and obesity.The relevance ratio of 4 groups with abnormal FPG were 2.71%,5.93%,11.65% and 13.75%,with diabetes were 1.38%,3.18%,6.02% and 6.39%,with impaired fasting glucose (IFG)were 0.8%,2.75%,5.64% and 7.37%.The detection rate of abnormal FPG, IFG and DM detection rate increased with increasing BMI levels (P<0.005).Conclusion The levels of FPG was upward trend with increasing BMI,increased prevalence of diabetes in overweight and obese people.The middle-aged population is the focus of monitoring and intervention of obesity.Control BMI is an effective measure to reduce the occurrence of diabetes.

Objective To investigate the relationship between fatty liver prevalence and body mass index(BMI),dyslipidemia in physical examination population in Baoji area.Methods The height and weight of 10 476 cases of physical examination population were measured and then BMI was calculated.Serum TG,TC,LDL-C and HDL-C concentrations were also determined.Type-B ul-trasonic was used to diagnose fatty liver.The test results were analyzed statistically.Results Fatty liver detection rate of 10 476 physical examination people was 16.29%,the detection rate of abnormal blood lipid concentration was 45.31%;the detection rate of abnormal TG,TC,LDL-C and HDL-C concentrations were 33.05%,17.23%,15.48% and 10%;the prevalence of fatty liver in-creased with BMI(P <0.05);In male population,the detection rate of TG,LDL-C concentrations′abnormal increase,HDL-C con-centrations′abnormal decrease,and fatty liver were higher than that in female population(P <0.05);the detection rate of blood lip-id′s abnormal concentrations and fatty liver were different in people of different age(P <0.05).In male population the group with the highest detection rate of dyslipidemia and fatty liver was the middle-aged group,while in women population was the elderly group.Conclusion There was a significant correlation among BMI,dyslipidemia and fatty liver prevalence,which were different in age and gender.

Objective With the development of children 's health care policy, mild Wilson Disease as the first symptom of pa-tients is increasing.In this study, we assessed the reliability of the 2001 international general standards of the Wilson Disease diagnos -tic score.Methods Twenty -one cases of Wilson Disease in children (11 cases were boys, 10 cases were girls, average age was 3 ~10.8 years) included in the study, other 21 cases with liver disease were age-matched and gender-matched.There were no clinical symptoms, only with abnormal liver function in laboratory tests .All the patients with Wilson Disease were all confirmed through genetic diagnosis.Results Receiver operating characteristic (ROC) curve analysis showed that at 20 mg /L threshold, the sensitivity of cer-uloplasmin was 93.4% (95% CI : 81.2% ~98.8%), the specificity was 81.8 (95% CI : 71.6% ~93.6%); urinary copper diag-nostic threshold was 40μg/L/24h, the sensitivity was 75.9% (95% CI :61.7% ~92.4%); the specificity was 89.9% (95% CI :73.7% ~96.6%).WD scoring diagnostic system of the positive and negative predictive values as high as 93% and 91.6%.Penicil-lamine load test in Wilson Disease and control groups , no significant difference between the ROC curve showed a sensitivity of only 10%.Conclusions WD scoring diagnostic system in the mild Wilson Disease patients still has a high diagnostic specificity , but peni-cillamine load test does not have diagnostic significance in some patients .