[Value of body fat mass measured by bioelectrical impedance analysis in predicting abnormal blood pressure and abnormal glucose metabolism in children].

OBJECTIVE: To study the value of body fat mass measured by bioelectrical impedance analysis (BIA) in predicting abnormal blood pressure and abnormal glucose metabolism in children. METHODS: Stratified cluster sampling was used to select the students aged 6-16 years, and a questionnaire survey and physical examination were performed. The BIA apparatus was used to measure body fat mass. Body mass index (BMI), body fat mass index (FMI), and fat mass percentage (FMP) were calculated. Fasting blood glucose level were measured. RESULTS: A total of 14 293 children were enrolled, among whom boys accounted for 49.89%. In boys and girls, the percentile values (P60, P65, P70, P75, P80, P85, P90, P95) of FMI and FMP fitted by the LMS method were taken as the cut-off values. Based on the receiver operating characteristic curve analysis, the P70 values with a better value in predicting abnormal blood pressure and blood glucose metabolism were selected as the cut-off values for excessive body fat. When FMI or FMP was controlled below P70, the incidence of abnormal blood pressure or abnormal glucose metabolism may be decreased in 8.25%-43.24% of the children. CONCLUSIONS: The evaluation of obesity based on FMI and FMP has a certain value in screening for hypertension and hyperglycemia in children, which can be further verified in the future prevention and treatment of obesity and related chronic diseases in children.

Prevalence of hypertension and its associations with body composition across Chinese and American children and adolescents.

BACKGROUND: The age of onset of hypertension (HTN) is decreasing, and obesity is a significant risk factor. The prevalence and racial disparities in pediatric HTN and the association between body composition and blood pressure are insufficiently studied. This study aimed to evaluate the prevalence of HTN in Chinese and American children and adolescents and to assess the relationship between various body composition indices and HTN. METHODS: Seven thousand, five hundred and seventy-three Chinese and 6239 American children and adolescents aged 8-18 years from the 2013-2015 China Child and Adolescent Cardiovascular Health study and the 2011-2018 National Health and Nutrition Examination Surveys were analyzed. Blood pressure and body composition (fat and muscle) were measured by trained staff. The crude prevalence and age-standardized prevalence rate (ASPR) of primary HTN and its subtypes [isolated systolic hypertension (ISH) and isolated diastolic hypertension (IDH)] were calculated based on 2017 American Academy of Pediatrics guidelines. Multivariable-adjusted linear regression coefficients and odds ratios (ORs) were calculated to assess the associations of body composition indicators with HTN, ISH and IDH. RESULTS: The ASPR of HTN was 18.5% in China (CN) and 4.6% in the United States (US), whereas the obesity prevalence was 7.4% and 18.6%, and the population attributable risk of HTN caused by overweight and obesity was higher in the US than in CN. Increased fat mass, muscle mass and body fat percentage mass were associated with a higher risk of HTN in both countries. The percent of muscle body mass had a protective effect on HTN and ISH in both countries [HTN (CN: OR = 0.83, 95% CI = 0.78-0.88; US: OR = 0.72, 95% CI = 0.64-0.81); ISH (CN: OR = 0.87, 95% CI = 0.80-0.94; US: OR = 0.71, 95% CI = 0.62-0.81)], and the protective effect was more common among children and adolescents with high levels of physical activity. CONCLUSIONS: The burden of HTN in Chinese children and adolescents was substantial and much greater than that in the US, and the contribution of obesity to HTN was higher in the US than in CN. Augmenting the proportion of muscle mass in body composition has a protective effect against HTN in both populations. Optimizing body composition positively influences blood pressure in children and adolescents, particularly those with high-level physical activity. Video abstract (MP4 149982 KB).

[Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis].

OBJECTIVE: To explore the incidence of various types of mucopolysaccharidosis (MPS) and their clinical characteristics. METHODS: A total of 75 children highly suspected as having MPS underwent quantitative and electrophoretic analysis of urinary glycosaminoglycans (GAGs) and enzymatic analysis of seven types of MPS from January 2009 to December 2011. Fluorescence assay was used to measure the activities of α-L-iduronidase, iduronate-2-sulfatase, α-N-acetylglucosaminidase, galactosamine-6-sulfatase, ß-galactosidase, arylsulfatase B and ß-glucuronidase in the white blood cells. RESULTS: A total of 52 cases were confirmed with MPS based on clinical, radiological, and enzymatic examinations. The 52 cases, with a mean age of 4.0 ± 2.2 years, included 5 cases of MPS I (10%), 20 cases of MPS II (38%), 20 cases of MPS IVA (38%), 6 cases of MPS VI (12%) and 1 case of MPS VII (2%). No MPS IV B cases or MPS IIIB cases were found. Compared with healthy children of the same age, the GAG/Cr ratio was significantly elevated in 50 confirmed cases of MPS (two MPS IVA cases having no increased ratio). All children with increased urinary GAGs had a confirmed diagnosis of MPS. The age of onset was between 1 and 2 years after birth in most cases, and often complicated by hernia and valvular heart disease. Children with MPS I, MPS II, and MPS VI presented with ugly and unsmooth face, short stature, joint stiffness, and limitation of motion, while children with MPS IVA presented with short stature, skeletal dysplasia, and joint laxity. CONCLUSIONS: Type IVA and type II are the most common in MPS cases, followed by type VI and type I. MPS children are characterized by special appearances including ugly and unsmooth facial appearance, short stature and skeletal dysplasia. Quantitative analysis of urinary GAG, as a simple, rapid, and reliable method, is recommended for screening of MPS.

[Waist circumference reference values in Beijing versus the national values in detecting cardiovascular risk factors in 7-18 years old children].

OBJECTIVE: To compare the optimal references of waist circumference (WC) between Beijing and China in detecting cardiovascular risk factors in school-age children. METHODS: Percentile curves for WC were drawn by sex using LMS method based on 21 787 children and adolescents aged 7 - 18 from Beijing Child and Adolescent Metabolic Syndrome Study. The 75(th) and the 90(th) percentiles by age and by gender of WC percentile curves were chosen as the optimal WC reference for 3 - 18 years old children and adolescents in Beijing. The sensitivities (Se) and specificities (Sp) were compared between Beijing and China WC references based on the evaluation of cardiovascular risk factors including hypertension, dyslipidemia, impaired fasting glucose and non-alcoholic fatty liver disease (NAFLD) in the test population being composed of 4927 school children aged 7 - 18 years. The predictive values for those cardiovascular risk factors were compared between the two optimal thresholds through comparison of the odds ratio (OR) in regression analysis. RESULTS: The optimal reference for Beijing children and adolescents aged 3 - 18 years ranged from 51.8 to 78.2 cm for the 75(th) percentile in boys and 50.8 to 72.1 cm in girls, and the 90(th) percentile increased from 54.0 to 86.0 cm in boys and 53.3 to 77.3 cm in girls. The Ses of Beijing and China WC references in detecting hypertension were 0.74 and 0.82 in boys and 0.68 and 0.73 in girls; the Ses were 0.69 and 0.80 in detecting low-high density lipoprotein in boys and 0.64 and 0.71 in girls; and they were 0.98 and 1.00 in boys and both were 0.93 in girls for NAFLD. The Sps of Beijing and China WC references in screening hypertension were 0.62 and 0.53 in boys and 0.68 and 0.63 in girls, respectively. In predicting low-high density lipoprotein, the Sps were 0.59 and 0.50 in boys and 0.66 and 0.61 in girls, the Sps were 0.60 and 0.50 in boys and 0.56 and 0.51 in girls for predicting NAFLD. After adjustment for age and gender, ORs and their 95% credibility intervals (CI) of the 90(th) WC percentiles of Beijing and China school children were 6.3 (5.2 - 7.7) and 6.0 (4.9 - 7.4) in predicting hypertension. Both predictive ORs and their 95%CIs were 1.3 (1.1 - 1.5) in predicting impaired fasting glucose and the both were 2.9 (2.5 - 3.4) for dyslipidemia. In predicting NAFLD the ORs and their 95%CIs were 49.1 (12.0 - 201.6) and 69.8 (9.7 - 504.2) for Beijing and China WC optimal references, separately. CONCLUSION: Compared with Chinese WC reference, WC reference of Beijing had high Sps in screening cardiovascular risk factors in 7 - 18 years old children. The predictive values were not significant different between Beijing and China WC references for almost all cardiovascular risk factors except NAFLD. The WC reference in Beijing was more practical and handy for reference in Beijing and other north developed metropolises.

[Cognitive-behavior of HIV-positive women of fertility age regarding AIDS in three counties of Henan Province].

OBJECTIVE: To investigate the demographic characteristics of HIV-positive women of fertility age in Henan province and their knowledge and behavior in relation to AIDS. METHODS: A questionnaire survey was administered to 686 HIV-positive women of fertility age through face to face interview. The demographic characteristics of the respondents and their association with AIDS-related knowledge and behavior were analysed. RESULTS: Over 90% of respondents had good knowledge about AIDS. Statistically significant differences existed in the knowledge of AIDS and the use of condom among those with different age, education and income (P < 0.05). Age (OR < 1) and annual income (OR > 1) were identified as risk factors of failing to use condoms in regression analysis. CONCLUSION: Interventions need to be strengthened for HIV-positive women of fertility age, in particular for those who are young and have high incomes.

[Familial clustering of obesity and the role of lifestyle factors among children in Beijing].

OBJECTIVE: To investigate the correlation between lifestyle factors, parental obesity and adiposity in children, in order to provide theoretical evidence for public health policy establishment. METHODS: A cross-sectional observation study was conducted among approximately 20 thousand children aged 2 - 18 years old in urban and rural regions of Beijing, by using stratified randomization clustering sampling methods. Familial environmental risk factors of children adiposity and parental obesity were assessed with standardized questionnaire. Anthropometric measurements, including height and weight, were conducted. SPSS 13.0 software was applied to analyze the data, including general description, chi(2) trend test and non-condition logistic analyse. RESULTS: With IOTF obesity references, the prevalence of obesity in 21,198 children aged 2 - 18 years old was 5.6%. The behavioral characters (for example, smoking and drinking) and children obesity showed significant familial aggregation. In groups including "both parents not smoke", "only one parent smoke" and "both parents smoke", the smoking rates of offsprings were 1.50%, 2.93% and 6.01%, respectively (chi(trend)(2) = 107.009, P < 0.01). A similar pattern was found for offsprings' alcohol consumption rates (5.85%, 9.12% and 13.96%; chi(trend)(2) = 107.009, P < 0.01). Based on parents' BMI status, in groups including "both parents had normal weight", "father was obese", "mother was obese" and "both parents were obese", the prevalence of obesity in children were 3.29%, 11.48%, 9.12% and 27.01%, respectively (chi(trend)(2) = 293.404, P < 0.01). After controlling for sex and ages, factors such as physical exercises, sleeping times per day, fat intakes, watching TV, drinking alcohol were impact factors of children obesity. After controlling of confounding factors, such as children gender, age, birth weight, puberty, smoking history, drinking history, fat intakes, soft drink, physical exercises, education experiences of parents, smoking history, drinking history, family income and so on, maternal obesity had a greater influence on daughters than on sons (OR = 5.93, 95% CI: 3.57 - 9.84), and paternal obesity showed similar influence on sons (OR = 4.29, 95% CI: 3.21 - 5.72). Comparing to parents with normal weight, obese parents had more powerful impact on daughters (OR = 28.51, 95% CI: 15.13 - 53.72) than on sons (OR = 7.21, 95% CI: 4.07 - 12.75), regarding to 2 - 5 years group and 10 - 12 years group versus other age group (OR = 18.67, 95% CI: 1.49 - 234.46; OR = 22.25, 95% CI: 10.62 - 46.59). CONCLUSION: Parental obesity is an independent risk factor of adiposity in children; gender and age affect this association. The lifestyle patterns of parents should have great impact on children. When prevention or intervention with children obesity, familial environmental factors should be emphasized.

[The relationship between serum leptin level and metabolic syndrome among a middle-aged Chinese population].

OBJECTIVE: To explore the relationship between serum level of leptin and the components of metabolic syndrome in a group of mid-aged Chinese population. METHODS: 345 adults (184 men and 161 women) aged 46 - 53 were enrolled from Fetal Origin of Adult Disease (FOAD) cohort to participate the clinic examination including anthropometry, measurements of blood pressure, fasting and 2 hr plasma levels of glucose and insulin, serum levels of lipid and leptin. HOMA-IR index was calculated to estimate individual insulin resistance. Metabolic syndrome (MS) was diagnosed according to the definition criteria issued by the International Diabetes Federation (IDF) in 2005. RESULTS: The prevalences of central obesity, higher serum level of triglyceride (TG), lower serum level of high-density lipoprotein (HDL-C), IFG, higher blood pressure and MS were 53.0%, 47.5%, 34.2%, 26.7%, 33.9%, 31.9% in this mid-aged population, respectively. Serum geometric mean level of leptin was higher in females than in males. Serum level of leptin increased with the prevalence of MS and components of abnormal metabolism. The serum level of leptin compared with central obesity, higher blood pressure, higher serum level of triglyceride (TG), lower serum level of high-density lipoprotein cholesterol (HDL-C), IFG and MS was significantly higher respectively (P < 0.05) without HDL-C in males. The serum level of leptin increased with the number of components of abnormal metabolism subjects had (P < 0.001). CONCLUSION: The serum level of leptin in this population is significantly associated with MS and components of MS. Hyperleptinemia could be a new component of metabolic syndrome. It might be a target in selection of MS and relative diseases.

A novel mutation of estrogen receptor gene detected in girls with precocious puberty.

Female precocious puberty is caused by premature activation of the hypothalamic-pituitary-gonadal axis, exposure to exogenous sex steroid hormones, and the presence of endogenous sex steroids caused by various factors. Estrogen is the final key factor to start onset of puberty. However,in some cases of precocious puberty in girls estrogen elevation could not be detected. The raised sensitivity of estrogen receptor, which may caused by ESR1 mutation or polymorphism, has been frequently mentioned for interpreting the etiology of sporadic low estrogen type cases. But no case evidence has been found in clinical practice. For the purpose of screening possible mutations in estrogen receptor gene, leukocyte genomic DNA were collected from 16 girls with precocious puberty of sporadic low estrogen,and exons of ESR1 were amplified and analysized using PCR-SSCP/silver staining method. A single strand conformation change in exon 8 was found in one of the patients (No. 14). The suspected fragment were cloned to a T vector and sequenced for analysis. Sequencing of these clones revealed that this conformation change is caused by a C to T transition. This mutation results in the replacement of arginine by cystine at position 548 of ESR1 protein. The mutation created an extra Btsl digest site and made it can be readily identified by PCR-PFLP method. Further detection using this method, and sequencing of cloned exon8 colonies from patients proved that the patient No. 14 is Arg548/Cys548 heterozagous in genotype. This mutation increased hydrophobility of the area dramatically. The position and the conservative of this residue in vertebrates suggested Arg548 may play an important role in ESR1 function. For study the role of this mutation in the onset of precocious puberty, a firefly luciferase reporter plasmid pGL3-promoter-ERE was constructed,and a pCR3. 1-hermut pisimid expressing Cys548 ER was constructed based on wild type pCR3. 1her. Co-transfection of reporter and pCR3. 1 -hermut in CMF-7 cell strain proved that Cys548 mutant can significantly increase the transcription activity over the Arg548 wild type.

Polymorphisms of exon 17 of insulin-receptor gene in pathogenesis of human disorders with insulin resistance.

OBJECTIVE: To investigate the relationship between polymorphisms of insulin-receptor (INSR) gene and insulin resistance in a population-based study in China. METHODS: Polymerase Chain Reaction (PCR) was used to the amplify Exon 17 of INSR gene and all amplified products were analyzed by direct sequencing. RESULTS: Six single-nucleotide polymorphisms (SNPs) were found at the following loci: T to TC at the locus of 10699 (Tyr(984)), G to GC at the locus of 10731 (Glu(994)), Deletion G at the locus of 10798 (Asp(1017)), C to T/TC at the locus of 10923 (His(1058)), C to CA at the locus of 10954 (Leu(1069)), and T to TA at the locus of 10961 (Phe(1071)), which might not change the amino acid sequence. The data were in agreement with the test of Hardy-Weinberg balance (P > 0.05). Among the 345 cases, all clinical indices were higher in males than in females except for HDL cholesterol (P < 0.05). The proportion of insulin resistance in males (64.4%) was higher than that in females (35.6%, OR = 1.83). It implied that the relative risk of developing insulin resistance in males was 1.83 times as high as that in females. The biochemical indices in different loci on Exon 17 showed that the individuals with deletion G on the locus of 10798 had lower TG (P = 0.052) and higher HDL (P = 0.027) than those without deletion G on the same site. Homa-Index was lower in those with deletion G than in those without deletion G (P > 0.05). After sex stratification in analysis, all allele frequencies on the six loci of SNPs of Exon 17 had different distributions between the insulin resistant group and the control group, but P > 0.05. CONCLUSION: SNPs of Exon 17 of INSR gene are unlikely to play a direct role in the pathogenesis of human disorders with insulin resistance.

[Ponderal index at birth predicts metabolic syndrome in mid-aged Chinese].

OBJECTIVE: To examine the association between Ponderal index (PI) at birth and metabolic syndrome during middle age. METHODS: Totally, 975 adults (494 men and 481 women) aged 41-52 from the study cohort of Fetal Origin of Adult Disease were recruited in the study for clinic examinations, involving anthropometry and measurements of blood pressure, fasting and 2 hr plasma levels of glucose and insulin, serum lipid profile. Their HOMA-insulin resistance (IR) index was estimated. Metabolic syndrome (MS) was diagnosed according to 1999 WHO definition. Multivariate logistic regression analysis was used to estimate the effect of PI on MS and the interaction between PI at birth and body mass index (BMI) in adulthood. RESULTS: Prevalence of MS was 18.7% in this mid-aged population, 24.8%, 19.4%, 16.3% and 14.0% in those with less than the 25th percentile, the 25th to less than the 50th percentile, the 50th to less than the 75th percentile and more than 75th percentile of PI at birth, respectively, in a decreasing trend (chi2 M-H for trend=9.938 adjusted for gender, P=0.002). Logistic regression analysis showed that both PI at birth and BMI during adulthood could influence their occurrence of MS (beta=-0.125, P=0.002, for PI; and beta=0.430, P=0.000, for BMI). A synergistic effect between PI at birth and BMI in adulthood was observed in this population. Persons who were thin at birth with PI less than the 25th percentile, and became overweight with BMI greater than or equal to 24 kg/m2 later in their life, were at higher risk of suffering from metabolic syndrome (OR=29.1, 95% CI=13.6-62.1), in comparison with those who became overweight during adulthood from a higher PI at birth (OR=16.0, 95% CI=7.9-32.3) and those who were thin at birth and remained a appropriate BMI during their adulthood (OR=2.0, 95% CI=0.7-5.7). Attributable fraction of the interaction to MS was 34.6%. CONCLUSIONS: Thin at birth was a predictor for later occurrence of metabolic syndrome, as well as an effect modifier for the association between of later BMI and metabolic syndrome, i.e., overweight later in his life was most deleterious for a person with growth retardation at birth.

[Risk of obesity-related gene polymorphism on the incidence and durative of childhood obesity].

OBJECTIVE: To examine the impact of single nucleotide polymorphisms(SNPs)in obesity-related genes on the incidence and durative of obesity in childhood and adolescence. METHODS: Based on the Beijing Child and Adolescent Metabolic Syndrome (BCAMS) Study, 780 school children aged 6 to 16 years were followed-up in 2010, and assessed for body size parameters. Venipuncture blood samples were collected after a 12-hour overnight fast. Genomic DNA was isolated from peripheral blood white cells under the salt fractionation method. SNPs were genotyped by ABI 5700 real time PCR(FTO rs9939609)and TaqMan Allelic Discrimination Assays with the GeneAmp 7900 Sequence Detection System(Applied Biosystems,Foster City, CA, USA) (FTO rs6499640, FAIM2 rs7138803,NPC1 rs1805081, MC4R rs17782313, BDNF rs6265, GNPDA2 rs10938397). Both overweight and obesity were diagnosed by the Chinese age- and sex- specific body mass index(BMI) cutoffs. Two independent sample t-test, Chi-square test and multiple logistic regression analysis were performed. RESULTS: During the 6 years follow-up period, the incidence of obesity in the total sample 8.5%, and 65.1% individuals had persisted their obese status. The genotypes of the SNPs except BDNF rs6265 were in Hardy-Weinberg equilibrium in each group (P > 0.05). The incidence rates of obesity increased with FTO rs9939609 TT,TA and AA genotypes(χ(2) for trend = 8.030, P < 0.05). In the non-obese sub-cohort, after adjusted for sex, age at the initial time of follow up and residential area, when compared with children carrying FTO rs9939609 T-allele, a significantly relative risk of obesity was observed for children carrying the rs9939609 A-allele(OR = 2.42, 95%CI:1.31-4.47, P = 0.005). In the obese sub-cohort, FTO rs9939609 A-allele was significantly associated with durative of obesity (OR = 1.72, 95%CI:1.07-2.77, P = 0.026). However, no statistical significant associations were seen between other SNPs(FTO rs6499640, FAIM2 rs7138803, NPC1 rs1805081, MC4R rs17782313, GNPDA2 rs10938397)and the incidence or durative of obesity(all P > 0.05). The genetic risk score was associated with the risk of occurrence of obesity(OR = 16.42, 95% CI:3.59-75.10, P < 0.001) after adjusted for residential area, sex, age at the initial time of follow up and baseline BMI. CONCLUSION: We confirmed the association of FTO rs9939609 with incidence and durative of obesity in children. Early intervention was recommended on the high risk individuals who carrying more risk alleles in obesity-related genes.

[Prevalence of nonalcoholic fatty liver disease and metabolic abnormalities in 387 obese children and adolescents in Beijing, China].

OBJECTIVE: To determine the prevalence of nonalcoholic fatty liver disease (NAFLD) and metabolic abnormalities in obese children and adolescents in Beijing. METHODS: This study involved 387 obese children and adolescents, aged 12 to 17 years in Beijing. Data on anthropometric measurements was collected, including weight, height and age. All subjects underwent a clinic examination containing fasting blood and liver ultrasonography. Nonalcoholic fatty liver disease was diagnosed using diagnostic criteria for nonalcoholic fatty liver disease which was recommended by the Fatty liver and Alcoholic Liver Disease Study Group of Liver Disease Association in China. RESULTS: 174 out of the 387 children were diagnosed as having NAFLD. The overall prevalence of NAFLD was 45.0% in this study population. The prevalence rates of NAFLD did not show significant difference between girls and boys. The prevalence rates of diabetes mellitus and IFG were 0.8% and 49.1% respectively. The prevalence rates of HTG, HTC, HLDL-C, LHDL-C, IFG, elevated ALT (or AST) and acanthosis nigricans were 6.3%, 4.0%, 37.9%, 22.8%, 46.0%, 17.8% and 28.5% in students combined with obesity and NAFLD, respectively. In the NAFLD subgroup, higher prevalence of high TG, acanthosis nigricans, abnormal ALT or AST were seen. With the increasing of obesity, the level of LDL-C, TG, liver function disturbance and prevalence of NAFLD and acanthosis nigricans were aggravated. Under binary logistic regression analysis, results showed that high BMI, acanthosis nigricans and TG were significantly correlated with NAFLD in obese children and adolescent population. CONCLUSION: NAFLD was common in obese children, and the prevalence of NAFLD in obese children was 45.0%. Higher BMI, acanthosis nigricans and abnormal TG were independent risk factors for NAFLD in obese children. Obese children who had been exposed to high risk factors should take the ultrasonography.

Direct protection of neurons and astrocytes by matrine via inhibition of the NF-κB signaling pathway contributes to neuroprotection against focal cerebral ischemia.

Matrine (Mat) and oxymatrine are two major alkaloids of the Chinese herb Sophora flavescens Ait. (Leguminosae). Previous study has demonstrated that Mat reduces brain edema induced by focal cerebral ischemia. More recently, oxymatrine has been reported to produce neuroprotective effects against focal cerebral ischemia via inhibiting the activation of NF-κB in the ischemic brain tissue. In the current study, we investigated whether direct protection on neurons and astrocytes via inhibition of NF-κB signaling pathway is associated with Mat's neuroprotective effects against cerebral ischemia. In a model of permanent middle cerebral artery occlusion (pMCAO), Mat (12.5, 25 and 50 mg/kg) reduced the infarction volume and improved the neurological deficits in a dose-dependent manner, administered 10 min, 3h and even 6h following pMCAO. Mat 50 mg/kg also decreased the hemispheric water content. The number of GFAP-positive cells was markedly decreased in the ischemic cortex at 12h after ischemia. In contrast, Mat increased the number of GFAP-positive cells. Mat 50mg/kg has no effect on the cerebral blood flow (CBF). Primary neuron or astrocyte cultures were exposed to a paradigm of ischemic insult by using an oxygen-glucose deprivation (OGD), Mat (50-200 µM) reduced LDH leakage and the number of neuronal and astrocytic apoptosis, and increased the number of MAP2-positive and GFAP-positive cells. Further observations revealed that Mat increased the protein levels of IκBα, and blocked the translocation of NF-κB p65 from the cytosol to the nucleus in the ischemic cortex and injured neurons and astrocytes induced by in vitro OGD. Moreover, Mat could down-regulate NF-κB p65 downstream pro-apoptotic gene p53 and/or c-Myc in the injured neurons and astrocytes induced by OGD. The present findings suggest that Mat, even when administrated 6h after ischemia, has neuroprotective effects against focal cerebral ischemia and directly protects neurons and astrocytes via inhibition of NF-κB signaling pathway, contributing to matrine's neuroprotection against focal cerebral ischemia.

[Wolman disease with novel mutation of LIPA gene in a Chinese infant].

OBJECTIVE: To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis. METHOD: Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed. RESULT: The sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation. CONCLUSION: The clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.

[Mucopolysaccharidosis VII: report of a case and review of the literature].

OBJECTIVE: To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII. METHOD: The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed. RESULT: The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls: 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes. CONCLUSION: Severe form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.

p53-mediated neuronal cell death in ischemic brain injury.

p53 is a key modulator of cellular stress responses. It is activated in the ischemic areas of brain, and contributes to neuronal apoptosis. In various stroke models, p53 deficiency or applications of p53 inhibitors can significantly attenuate brain damage. p53-mediated neuronal apoptosis occurs through various molecular mechanisms. The transcriptional pathway is an important mechanism through which p53 induces neuronal apoptosis by up-regulating the expression of its target gene p21(WAF), Peg3/Pw1 or p53-up-regulated modulator of apoptosis (PUMA). In addition, p53 disrupts NF-kappaB binding to p300 and blocks NF-kappaB-mediated survival signaling. On the other hand, the transcription-independent pathway mechanism is also of great importance. In this pathway, p53 is translocated to mitochondrial and mediates the release of cytochrome c. In both pathways, p53 seems to play a key role in post-ischemic brain damage and has become a therapeutic target against stroke pathology.

[Impact on the risk of obesity due to interactions between fat mass- and obesity-associated gene rs9939609 variants and behavioral factors, in the Chinese school-aged children].

OBJECTIVE: To investigate how the interactions between fat mass- and obesity-associated (FTO) gene rs9939609 variants and daily-life related behavioral factors would influence the risk of obesity among the Chinese school-aged children. METHODS: 3503 school-aged children were selected from the Beijing Child and Adolescent Metabolic Syndrome (BCAMS) Study, and divided into obese children (n = 1229) and non-obese children (n = 2274). Venipuncture blood test, genotyping and questionnaire were performed. RESULTS: Five common factors including protein foods, tobacco & alcohol, vegetables & fruits, sedentary behavior and physical exercise in spare time were extracted with factor analysis methodology. Data from logistic regression analysis showed that taking the interaction of rs9939609 variant with protein foods as an example, the risk of interaction accounted for 19.16% when both factors existing simultaneously. Similarly, the interactions of this SNP with vegetables & fruits, sedentary behavior and physical exercise in spare time appeared to be 5.97%, 19.62% and 12.43% respectively; however there might not be interaction between tobacco, alcohol and the SNP in the Chinese children. CONCLUSION: Protein foods, vegetables & fruits, sedentary behavior and physical exercise might modify the effects of FTO rs9939609 variant on the risk of obesity in Chinese school-aged children. However, large-scale, prospective studies with detailed information on related behavioral factors would be ideal models for identifying the interactions between genes and environment.

Adiponectin and leptin metabolic biomarkers in chinese children and adolescents.

Objective. To evaluate leptin and adiponectin as biomarkers of metabolic syndrome (MS) risk factors even in nonobese children/adolescents. Methods. Serum leptin, adiponectin, leptin:adiponectin ratio, lipids, glucose, and insulin concentrations as well as body size parameters and pubertal development were evaluated in a large population of Chinese children/adolescents (n = 3505, 6-18 years, 1722 girls and 1783 boys). Results. Leptin concentration increased while adiponectin decreased with obesity, both were influenced by pubertal development. Central obesity had an additive effect on leptin levels (above obesity alone). Leptin/adiponectin increased 8.4-fold and 3.2-fold in overweight/obesity, and 15.8- and 4.5-fold with obesity plus MS, in early and late puberty, respectively. Even in normal weight children/adolescents, higher leptin and lower adiponectin concentrations associated with increased risk profile. Conversely, overweight/obese with lower leptin or higher adiponectin concentrations had a less compromised metabolic profile. Conclusion. Leptin, adiponectin, and leptin:adiponectin ratio are informative biomarkers for obesity, central obesity, MS, and abnormal metabolic profile even in normal weight children/adolescents.

Acylation stimulating protein but not complement C3 associates with metabolic syndrome components in Chinese children and adolescents.

OBJECTIVE: Childhood obesity is increasing worldwide and is increasingly associated with metabolic syndrome (MetS). Our aim was to examine acylation stimulating protein (ASP) and its precursor complement C3, in normal, overweight, and obese Chinese children and adolescents, and the relationships with body size, blood parameters, pubertal development, family environment, and MetS. METHODS: Children and adolescents (n=1603) from 6 to 18 years, boys (n=873) and girls (n=730), including normal weight (n=603), overweight (n=291) and obese (n=709) were assessed for body size parameters, pubertal development, blood lipids, glucose, insulin, ASP, and C3. RESULTS: ASP levels were increased in overweight and obese versus normal weight (P<0.001), while C3 showed little variation. This effect of overweight/obesity remained throughout early stages when boys and girls were separated by pubertal development or age, although age and pubertal status itself had no effect. Separation based on ASP quintiles demonstrated significant associations with blood cholesterol, triglyceride, low-density lipoprotein cholesterol (LDL-Chol), glucose, insulin, and homeostatic model assessment of insulin resistance in boys, and LDL-Chol, high-density lipoprotein cholesterol, and glucose in girls. A positive correlation with mother's body mass index in boys and girls (P=0.002 and P=0.014 respectively) as well as birth weight (P<0.001) was noted. MetS was strongly associated with increased ASP, the presence of a single MetS factor (especially hypertension, central obesity, or hyperglycemia) was associated with increased ASP. CONCLUSION: Changes in the plasma adipokine ASP in early obesity are associated with blood lipid and glucose modifications, family environment, and distinct MetS risk factors.