［Abstract］Objective： To compare and evaluate clinical applications of two definitions of metabolic syndrome in children and adolescents，which was developed by Pediatric Academy of Chinese Medical Association in 2012 (Chinese definition) and by International Diabetes Federation in 2007 (IDF definition)，respectively. Methods： 593 obese children and adolescents aged 10~16 y from July 2006 to December 2012 were enrolled in the study.The diagnostic concordance of two definitions for metabolic syndrome and individual components was estimated，and their sensitivity and specificity for detecting insulin resistance and early macrovascular complications were compared. Results： The concordance between two definitions for diagnosing metabolic syndrome was good (kappa=0.626); as for detecting the individual components，the Kappa concordance index were 1.000，0.803，0.780，0.734 and 0.594 for hypertriglyceridemia，hyperglycemia，cholesterol abnormality and hypertension，respectively.The incidence of insulin resistance and early macrovascular complications，detected by the two definitions，were both increased with increasing number of abnormal components.The sensitivity and specificity for detecting insulin resistance in children with metabolic syndrome were 54.5% and 65.7% by Chinese definition，and 36.1% and 83.1% by IDF definition; while the sensitivity and specificity for detecting early macrovascular complications were 58.3% and 55.8% by Chinese definition，and 37.3% and 70.8% by IDF definition.After adjusting for age and sex，compared to the obese children and adolescents without metabolic syndrome，the odds ratios of insulin resistance and early macrovascular complications were 2.166 (P<0.001) and 1.771(P=0.008) for children with metabolic syndrome diagnosed by Chinese definition，and the odds ratio of insulin resistance and early macrovascular complications were 2.618 (P<0.001) and 1.357 (P=0.190) by IDF definition. Conclusions： The concordance between Chinese and IDF definitions for diagnosing metabolic syndrome in Chinese obese children and adolescents is good.Compared to IDF definition，Chinese definition is more sensitive for hypertension，hyperglycemia and hypercholesterolemia，thus it can more effectively detect insulin resistance and early macrovascular complication.

［Abstract］Objective： To early assess the impaired renal function in the obese children with non-alcoholic fatty liver disease (NAFLD) and to identify the relationship between NAFLD and impairment of renal function. Methods： Three hundred and eighty-six obese children were enrolled and divided into NAFLD group and simple obesity group (control) according to the diagnostic criteria.Clinical biochemical parameters and early impaired renal functions were evaluated and compared.Among all patients 234 obese children aged over 10 y were subdivided into 3 groups：NAFLD combined with metabolic syndrome (NAFLD+MS) group，NAFLD group and simple obesity group (control)， and the above indexes were compared among 3 groups．Results： The urinary microalbumin levels in NAFLD，NAFLD+MS (>10y) and NAFLD groups (>10y) were significantly higher than those in controls.Additionally，the positive correlations of urinary microalbumin with systolic pressure，triglyceride and 2h-postprandial blood glucose were found. Conclusions： There is early renal dysfunction in children with NAFLD and those accompanied with MS，which may be associated with hypertension and glucose-lipid metabolic disorder.The results indicate that NAFLD is not only an early sign of early impaired renal function but also an early stage of chronic kidney disease (CKD) in obese children.

［Abstract］Objective： To survey the quality of life in children and adolescents with type 1 diabetes. Methods： Ninety-eight children and adolescents with type 1 diabetes who participated in Diabetes Summer Camp held in Chongqing，Wuhan and Cheng during 2012 April and December were recruited in the study.The American juvenile diabetes patients quality of life scale Diabetes Quality of Life for Youths was used to assess the quality of life and SPSS19.0 was used for statistical analysis. Results： The scale had satisfactory reliability and validity with a Cronbach′s Alpha score of 0.942 and a validity score of 0.679.All three dimension of scales：scales of impact，scales of worries and scales of satisfaction were significantly correlated with self-health assessment (P<0.01).The scores of impact and worries accounted for >50% of total scores as the same for the self health assessment scores.The score of disease course，diet and blood glucose control were positive correlated with each other.Age and HbA1c were positively correlated with the scale of impact，while gender has negative correlation with satisfaction scale (P<0.05).The diabetes diet had significant effects on the quality of life. Conclusions： The quality of life in children and adolescents with type 1 diabetes is decreased，especially for those with longer disease course and female adolescents.The form of Diabetes Quality of Life for Youth used in the study has good reliability and validity，which can reflect the quality of life of Chinese diabetic children and adolescents.

［Abstract］Objective： To survey the current status of pubertal development of Chinese children and to compare the precocious puberty prevalence of different regions． Methods： A cross-sectional epidemiological study was conducted on 18 707 children and adolescents aged 6~18 y with male/female ratio of 9 812/8 895 from 6 representative geographical areas in China，including Beijing，Tianjin，Hangzhou，Shanghai，Chongqing and Nanning.The height，weight，waist circumference (WC)，hip circumference(HC) and sexual maturation states (Tanner stages：breast stages for girls and testicular volume for boys) of children and adolescents were measured.Probit analysis was used to calculate the median age and 95%confidence interval (CI) for onset of breast and testicular development.The prevalence of precocious puberty of different regions and BMI，waist circumference of different groups were compared. Results： Breast development before 8 y was observed in 2.91%of girls，and testicular volume 4 ml or more before 9 y was observed in 1.74% of boys.The median age of onset of Tanner stages 2 for breast development in girls was 9.69 y (95%CI：9.63~9.75); the median age of onset of puberty as indicated by Tanner stages 2 for testicular development in boys was 11.25 y (95%CI：11.19~11.30).The prevalence of precocious puberty (43 girls and 37 boys) was 0.43% (80/18 707).The prevalence of precocious puberty in northern region was higher than that in southwest region（0.736% vs 0.282%，P<0.05）.There was no difference in onset age of precocious puberty in girls among three regions; but the onset age of precocious puberty in boys was earlier in east China [（7.4±0.28)y].The SD values of BMI and waist-to-hip ratio (W/H) in precocious puberty children were higher than those in the peer normal children.There was no difference in BMI，waist circumference and waist-to-hip ratio in the precocious puberty children among different regions. Conclusions： The current diagnostic criteria of precocious puberty are suitable for the children in the survey areas.The prevalence and the onset age of precocious puberty are various in different regions.A positive association between obesity and precocious puberty is found both in boys and girls.

［Abstract］Objective： To investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease. Methods： The proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age of 8 months. From the age of 16 months, he presented seizures. When he was admitted at 17 months old, severe mental retardation and weakness were observed. Fundus examination revealed bilateral cherry-red spots in the macula and optic atrophy. Cranial MRI revealed abnormal signals in the thalamus, basal ganglia and white matter. Enzymatic assay and genetic testing were performed for the diagnosis. His mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene diagnosis to the fetus was performed by direct sequencing. Results： Significant deficient total β-hexosaminidase (A and B) activity in peripheral leucocytes of the patient (0.0 nmol/h/mg vs normal control, 41.9 to 135.1 nmol/h/mg) supported the diagnosis of Sandhoff disease. On his HEXB gene, two mutations were found. c.1645G-A (p.G549R) was novel. c.IVS7-48T was a reported mutation. Now, the patient was 2 years and 3 months old, with progressive general failure, severe epilepsy, blindness and hypermyotonia. Subsequently, the mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene analysis of the amniocytes was performed by direct sequencing. Both of the two mutations were not detected from cultured amniocytes. The result revealed that the fetus was not affected by Sandhoff disease. A healthy girl, the sibling of the proband, was born in term. Postnatal enzyme analysis and genetic analysis of the cord blood cells confirmed the prenatal diagnosis. Conclusion： One novel mutation on HEXB gene was identified. Prenatal diagnosis to the fetus of this family was performed by amniocytes gene analysis.

［Abstract］Objective： To investigate the maturation of individual bones on the hand and wrist in children with central precocious puberty (CPP) and idiopathic short stature (ISS). Methods： Hand and wrist films of 25 children with CPP，29 children with ISS and 21 normal controls were evaluated by conventional Greulich-Pyle (GP) atlas method and individual bone assessment method，in which all twenty bones of the hand and wrist were evaluated based on GP atlas，including 2 radius and ulna，7 carpal bones，11 metacarpal and phalangeal bones，the average bone age (BA) was calculated.The differences in groups were analyzed by independent samples t test.The differences between the two methods were analyzed by paired sample t test.The differences between BA and chronological age (CA) were analyzed by ROC with SPSS 17.0. Results： Compared with the normal control group，the advance of BA in the CPP group was 0.70-2.26 y(1.48±0.78) by the GP atlas method，while that was 0.28-2.00 y(1.14±0.86) by the individual bone evaluation method.In all twenty bones，the advance of metacarpal and phalangeal BA was the greatest \[0.34-2.06 y(1.2±0.86)\].In the ISS group，the delay of BA was 0.47-2.91 y(-1.69±1.22) by the GP atlas method，while that was 0.48-2.50 y(-1.49±1.01) by individual bone evaluation method.The delay of carpal BA was the greatest \[0.59-2.73 y(-1.66±1.07)\] in all twenty bones.In the ISS group and the normal control group，there were no statistic differences between the two methods.In the CPP group，statistic difference was found between two methods.There were no statistic differences for the areas under ROC curves between two methods. Conclusions： The advance of metacarpal and phalangeal BA is the greatest in CPP group and the delay of carpal BA is the greatest in ISS group.Both methods provide diagnostic information for bone age in CPP and ISS children.

［Abstract］Objective： To investigate the effects of Xinfeng Capsule (XFC) on pulmonary function and related mechanism in adjuvant-induced arthritis (AA) rats. Methods： The rats were randomly divided into five groups：normal control (NC),model control (MC) groups，methotrexate (MTX)，tripterygium glycosides tablet (TPT) and Xinfeng capsule (XFC) treatment groups.The adjuvant-induced arthritis model was established by intracutaneous injection of 0.1 mL Freund′s complete adjuvant in the right paw of rats; the drugs were given 19 d after model establishment.The toe swelling degree (E)，arthritis index (AI)，pulmonary function，peripheral blood Treg levels，pathological changes of lung tissue and expression of Foxp3，TGF-β1，Smad3，Smad7 proteins in lung tissue were measured 30 d after drug administration. Results： Compared to NC group，the levels of E，AI，alveolitis score，TGF-β1 and Smad3 were significantly increased (P<0.05 or P<0.01);maximum expiratory flow 25% of vital capacity (FEF25)，50% maximal expiratory vital capacity flow (FEF50)，maximum expiratory flow at 75% of vital capacity (FEF75)，maximum mid-expiratory flow (MMF)，force peak expiratory flow (PEF)，CD4+ CD25+ Treg，Foxp3 and Smad7 were significantly decreased in MC group (P<0.05 or P<0.01）.Compared to MC group，the expression of E，AI，TGF-β1 and Smad3 were reduced，while FEF50，FEF75，MMF，PEF，Treg，Foxp3 and Smad7 were elevated in XFC group (P<0.05 or P<0.01）.Compared to XFC group,the level of body mass，FEF25，FEF50，FEF75，MMF and Treg were lower in MTX and TPT groups (P<0.05 or P<0.01）. Conclusions： There are inflamed joints and reduced pulmonary function in rats of adjuvant-induced arthritis.XFC can inhibit paw edema degrees，reduce arthritis response，and improve pulmonary function，which is associated with up-regulating expression of Treg and Foxp3， down-regulating the expression of TGF-β1 and adjusting TGF-β1/Smads signal pathway.

［Abstract］Objective： To detect the somatic mutations in peritoneal mesothelioma with whole genome sequencing technique. Methods： Surgically resected cancer and pericancerous tissue samples from one patient with peritoneal mesothelioma were obtained.The whole genome sequences of tumor tissue and pericancerous tissue were examined by the second generation sequencing technique and compared with reference sequences from human genome database. Results： There were 639 717 single nucleotide variations (Single Nucleotide Variation SNV) found in both tumor and pericancerous tissue cells; while 20 302 SNVs were unique for tumor cells and 2 185 SNVs unique for pericancerous tissue，but still 223 SNVs found in cancer and pericancerous tissue were differed from those in human genome database. Conclusions： The preliminary results indicate that merely comparing the gene sequences of cancer and pericancerous tissue samples in an individual with the human genome reference sequence can not accurately locate all somatic mutations in pathological cells.For those individualized diseases caused by random somatic mutations，it is suggested to sequence the whole genome at birth or at least to reserve a DNA sample at early age for both research and clinical needs.

［Abstract］Objective： To investigate the growth inhibition effect，cytotoxicity and apoptotic induction of harringtonine (HT) in human acute promyelocytic leukemia (APL) NB4 cells，and the related mechanism. Methods： NB4 cells were treated with HT.Total cell numbers were counted by hemocytometer，and cell viabilities were determined by trypan blue exclusion.Apoptotic cells were determined by fluorescence microscopy and FACS after staining with AO and EB or PI，respectively.The cleavage of PARP and the activation of Bax and the expression of anti-apoptotic proteins were determined by Western Blot.siRNA was used to silence the expression of target genes.Primary cells were isolated following Ficoll-Hypaque density gradient centrifugation method. Results： HT inhibited cell growth and induced apoptosis of NB4 cells in a dose- and time-dependent manner.Apoptosis induced by HT was correlated with the down-regulation of Mcl-1 and the cleavage of PARP，while HT did not affect the protein level of Bax and Bak or change the protein level of Bcl-2.The silence of Bcl-XL sensitized HT-induced apoptosis in NB4 cells.Apoptosis induced by HT in primarily cultured APL cells was also correlated with the down-regulation of Mcl-1. Conclusion： HT inhibits cell growth and induces apoptosis in NB4 cells and primarily cultured APL cells，which may be associated with down-regulation of Mcl-1.

［Abstract］Objective： To investigate the effect of Oxaliplatin（L-OHP）on cell cycle in hepatocellular carcinoma cell line HepG2 and the involved mechanism. Methods： Inhibitory effect of L-OHP on the proliferation of HepG2 cells was determined by MTT assay.Cell cycle distribution was shown by flow FCM.The expression levels of cyclinD1，CDK2，CDK4，p16，p21,p53 were detected by RT-PCR and Western blot.

［Abstract］Objective： To investigate the expression of EZH2 in breast cancer and its clinicopathological significance.

［Abstract］Objective： To investigate the correlation of neurochemical metabolism in hippocampus with memory function in young adult patients with first-episode depression.

［Abstract］Objective： To analyze the characteristics of autopsies in medical dispute. Methods： The data of 202 autopsy cases in medical disputes performed by the Department of Pathology of Jiangxi Medical College from January 2001 to December 2010 were retrospectively analyzed. Results： The number of autopsy in medical disputes increased year by year.Neonatal，infant and 30~60y were more common age groups in dispute; the gender ratio of male to female was 2∶1 and more cases were from hospitals in rural areas.Most medical disputes came from in departments of pediatric，obstetrics and gynecology and general surgery.Death caused by cardiovascular diseases ranked at the first place. Conclusion： Autopsy is important in medical disputes to define the cause of death and to preserve evidence.

［Abstract］Endometriosis (EMs) is a common gynecologic disease that affects women′s physical and mental health seriously.The pathogenesis is still unknown and the mechanism of endometriosis-associated pain remains unclear.Mast cells (MC) are known to be multifunctional players in the immune system.Recent studies have shown that nerve fibers in EMs lesions can release neural peptides such as nerve growth factor and substance P to induce MC degranulating and releasing histamine，proteases，cytokines，chemokines etc.，which contributes to the development of pain and hyperalgesia in patients with endometriosis.

［Abstract］Ureaplasma urealyticum (UU) is closely related to human diseases including non-gonococcal urethritis (NGU)，infertility，premature membranes and neonatal bronchopulmonary dysplasia.Researches on the pathogenicity of UU have become a hot topic in recent years，and suggest that many potential pathogenicity genes or putative pathogenicity islands are involved in its virulence.Moreover，the biovar and serum types of UU，the infection concentration and the state of the host immune system are also important to determine whether UU can cause human disease or not.In this article the recent progress of researches in the pathogenicity of UU is reviewed.

［Abstract］Protein transport from endoplasmic reticulum (ER) to Golgi apparatus has long been known to be a central process for protein quality control and sorting.Recent studies have revealed that a large number of signal molecules are involved in regulation of membrane trafficking through ER，ER-Golgi intermediate compartment and Golgi apparatus.These molecules can significantly change the transport rate of proteins by regulating vesicle budding and fusion.Protein transport from ER to Golgi apparatus is not only controlled by signal pathways triggered from outside the cell，it is also regulated by feedback signals from the transport pathway.