Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.

AIM To explore possible action mechanism of antidepressants. METHODS Using flow cytometry, the cell proliferation was detected. The proliferation of hippocampal progenitor cells and level of brain derived neurotrophic factor (BDNF) were measured by immunohistochemistry. RESULTS Treatment with N methyl D aspartate (NMDA) 600 ?mol?L -1 for 3 d significantly decreased the percentage of S phase in PC12 cells, while in the presence of classical antidepressants, desipramine (DIM) or fluoxetine (FLU) 1, 5 ?mol?L -1 , the percentage of S phase increased. Furthermore, the proliferation of hippocampal progenitor cells, as well as the BDNF level in dentate gyrus (subgranular zone) significantly decreased in chronically stressed mice for 24 d, while chronic administration with DIM or FLU 10 mg?kg -1 (ip) normalized it. Meanwhile, the BDNF level in dentate gyrus also elevated after DIM or FLU treatments. CONCLUSION Up regulation of the hippocampal neurogenesis is the common action mechanism for antidepressants, which may be closely related to the elevation of BDNF level at the same time.

Objective To study the NR5A1 gene mutation in patients with idiopathic hypogonadotropic hypogonadism(IHH), and to find the new mutation point.Methods Sixty-one IHH patients and 100 normal control subjects were collected and genomic DNA was extracted from blood samples.These patients were with normal karyotype and no abnormality was discovered in magnetic resonance imaging (MRI) scan of the pituitary.Other endocrine diseases were also excluded.The 2-7 exons and splice-sites of NR5A1 gene were amplified with polymerase chain reaction.DNA of the coding sequence and splice-sites of NR5A 1 were sequenced by double deoxidizing terminal end sequencing method in 61 IHH and 100 normal control subjects.The results of sequencing were compared with their corresponding sequence data.61 IHH kindreds were investigated and the clinical data of these patients were collected.Finally, the phenotype and genotype positive cases were analyzed.Results Six patients carried NR5A1 gene mutational sites in 61 cases of IHH.Analysis of sequencing results from 100 age and ethnicity matched control subjects did not show any of these novel changes.Conclusions One mutation in NR5A1 gene may affect protein structure and function, which should be considered in male IHH patients with normal karyotype and without insufficiency of adrenal function.

Objective To investigate the expressions of insulin receptor substrate-1 (IRS-1) and insulin receptor sub-strate-2 (IRS-2) in adipocytes during catch-up growth in neonatal rats with intrauterine growth restriction (IUGR) and their correlations with the insulin resistance. Methods Sprague-Dawley rats (clean grade) were randomly divided into control group and food-restricted group after fertilization. Food-restricted group were received about 30%of food amount consumed in control group every day through the whole pregnant period to establish IUGR animal model, and were fed increased amount of breast-milk from postnatal day 1 to 21 to establish the period of catch-up growth in IUGR animal model (IUGR-CG). Fasting serum glu-cose, insulin and triglyceride were measured in blood from heart ventricles of 4-week old SD rats and insulin resistance index was calculated. Pre-adipocytes and mature adipocytes were obtained from SD rats at different age (1-week, 3-week, 5-week and 7-week old) and the former were induced to differentiate toward mature adipocytes. The levels of IRS-1, IRS-2 in the two kinds of mature adipocytes were detected by Real-Time PCR and Western blot. Results The expression levels of IRS-1, IRS-2 mRNA in mature adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks and 7-weeks old (P<0.05) while the ex-pression levels of IRS-1, IRS-2 mRNA in differentiated adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks old (P<0.05). The expression levels of IRS-1, IRS-2 protein in two kinds of adipocytes (mature and differentiated adipocytes) of IUGR-CG rats were signiifcantly lower than those of IUGR rats from postpartum week 1 through 7 (P<0.05). Conclusions IRS-1 and IRS-2 expression levels are downregulated in adipocytes during catch-up growth of IUGR rats, which may be closely related with insulin resistance.

Objective To study the effects of the different concentrations of ethanol extracts of Smilax China on ear edema in mice and granuloma in rats,and to provide an evidence for optimizing the extraction process. Methods Effects of different concentrations of ethanol extracts of Smilax China on the xylene-induced ear edema in mice and the cotton ball-induced granuloma hyperplasia in rats were tested . Results Compared with the model controls,70% ethanol extracts of Smilax China at high,medium and low doses significantly inhibited ear edema in mice (t=2. 58,P<0. 05;t=2. 28,P<0. 05;t=2. 17,P<0. 05) and reduced the granuloma hyperplasia in rats(t=5. 28,P<0. 01;t=5. 24,P<0. 01;t=5. 17,P<0. 01). Conclusion The 70% ethanol extracts of Smilax China at three doses present the most active antiinflammatory effect,confirmed in both mice ear edema and rats granuloma models.

Objective To evaluate the value of whole genome amplification (WGA) combined with array comparative genomic hybridization (aCGH) in prenatal diagnosis. Methods Array CGH were performed by the DNA of 18 prenatal specimens , which were amplified by WGA because of the low DNA yield. Result 3 of the 18 fetuses were 45, X0 and 9 of 15 fetuses with normal aCGH results showed healthy outcome. Conclusion It’ s feasible for prenatal diagnosis using WGA combined with aCGH which not only can shorten the reporting time but also keep the sensitivity and accuracy of detection.

Objective To study the application and significance of constructivism theory in pathological experiment teaching.Methods Six classes in total of 198 students majoring in clinical medicine were selected from grade 2009 of Guangdong medical college for research and were divided into experimental group (n=99) and control group (n=99) using random number table.Various teaching methods based on constructivism theory were used in experimental group while conventional teaching methods were applied in control group.The observing ability for specimen and slices,theoretical level and learning behavior of students were assessed with the same standard and anonymous homemade questionnaire survey was executed for students.SPSS 13.0 statistical software was used to analyze the results.The examination results of the two groups were compared using independent samples t-test.The questionnaire survey results of the two groups were compared using Wilcoxon rank-sum test.P＜0.05 represented the difference having statistical significance.Results The observing capability for specimen and slices,theoretical level and learning behavior of students in experimental group were significantly improved (P＜0.01)and the questionnaire survey results demonstrated that there were statistical difference in feedbacks between the two groups and the satisfaction rate was significantly improved in experiment group (P＜0.01).Conclusions Applying comprehensive teaching methods based on constructivism theory can stimulate students' interest and initiative in learning,improve students' learning behavior and learning strategies,and significantly improve the teaching quality.

OBJECTIVETo study the mechanism that mediates the therapeutic effect of the bioactive fraction of Baqia (Smilax china) on chronic pelvic inflammatory disease (CPID).

METHODSSeventy rats were randomized into CPID model group, sham-operated group, normal control group, Jingangteng capsule group, and high-, medium-, and low-dose Baqia groups. Rat models of CPID were established by inducing chemical burns of the uterus and corresponding treatments were administered. After 14 days of treatment, the rat uterus was observed for swelling and inhibition rate, and the expressions of tumor necrosis factor-α (TNF-α) and interleukin-4 (IL-4) in the uterine tissues were determined using enzyme-linked immunosorbent assay.

RESULTSThe bioactive fraction of Baqia at the 3 doses obviously reduced the inflammatory cells in the endometrium, promoted epithelial cell proliferation, and ameliorated congestion and edema of the serosa. High and medium doses of Baqia bioactive fraction significantly decreased uterus swelling rate of the rats (P<0.01). All the 3 doses of the Baqia bioactive fraction obviously decreased uterine TNF-α content (P<0.01) and significantly increased uterine IL-4 expression level (P<0.05), and IL-4 up-regulation was especially obvious in high and medium dose groups (P<0.01).

CONCLUSIONBaqia bioactive fraction can ameliorate uterine swelling, lower uterine TNF-α and increase IL-4 expressions in rats with CPID, which may be a pharmacological mechanism underlying its therapeutic effect on CPID and cervical adhesion.

Animals ; Chronic Disease ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Female ; Interleukin-4 ; metabolism ; Pelvic Inflammatory Disease ; drug therapy ; metabolism ; Rats ; Rats, Sprague-Dawley ; Smilax ; chemistry ; Tumor Necrosis Factor-alpha ; metabolism ; Uterus ; drug effects ; metabolism

Childhood inherited leukodystrophies are common and diagnostic challenge disorders in inherited metabolic diseases.The rate of definite diagnosis of these diseases is lower,the early diagnosis is difficult,and the clinicians lack awareness for it.With the development of head imaging technology and the application of high-throughput gene sequencing technology,the list of inherited leukodystrophies has been increased to more than one hundred typies.Now,the classification,clinical features,specific biochemical tests and imaging characteristics of inherited leukodystrophies are reviewed,and the application of high-throughput sequencing in the diagnosis of these diseases in order to improve understanding of childhood inherited leukodystrophies are introduced.

OBJECTIVETo determine the effective fraction of Smilax for treatment of chronic pelvic inflammatory disease (CPID) by pharmacodynamic screening as the basis for further development of sarsaparilla preparations.

METHODSThe chemical fractions of Smilax were administered intragastrically in rat models of CPID induced by injecting phenol mucilage into the uterus to observe the therapeutic effects. The anti-inflammatory effects of different extract fractions from Smilax were tested in mice with xylene-induced ear edema and in rats with cotton-ball-induced granuloma.

RESULTSHigh-dose ethyl acetate extract of Smilax could obviously inhibit uterus inflammation in rats with CPID, showing also strong anti-inflammatory effects against ear edema in mice and granuloma in rats (P<0.01). The moderate dose of ethyl acetate extract also obviously ameliorated the inflammation. Both the ethyl acetate extract fraction and the total extract fraction of Smilax showed anti-inflammatory effects, while the former produced strong effects while the latter has only weak actions.

CONCLUSIONThe ethyl acetate extract fraction of Smilax is the effective fraction to produce anti-inflammatory and anti-CPID effects.

Animals ; Anti-Inflammatory Agents ; therapeutic use ; Drug Evaluation, Preclinical ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Mice ; Mice, Inbred Strains ; Pelvic Inflammatory Disease ; drug therapy ; Rats ; Rats, Sprague-Dawley ; Smilax