Adolescent ; Adult ; Anti-Mullerian Hormone ; Biomarkers ; blood ; Child ; Child, Preschool ; Glycoproteins ; blood ; Humans ; Infant ; Infant, Newborn ; Male ; Testicular Hormones ; blood ; Testis ; growth & development

ObjectiveTo observe the expression of syntaxin-1 in hippocampus of adult rats with hypothyroidism and the role of different doses of thyroid hormone replacement therapy,further to explore the molecular mechanism of brain damage.MethodsAll 44 male adult SD rats were randomly divided into 4 groups according to their body mass(250 - 300 g):hypothyroidism group,routine dosage thyroxine treatment group,high dosage thyroxine treatment group and control group (11 in each group).Hypothyroidism group,routine dosage thyroxine treatment group and high dosage thyroxine treatment group received daily intraperitoneal injection of propylthiouracil (PTU) 10 mg/kg.Hypothyroidism group was given PTU by intraperitoneal injection for two weeks after the previous four week treatment,the routine dosage thyroxine treatment group and the high dosage thyroxine treatment group were given 50,200 μg/kg L-thyroxine daily intraperitoneally for two weeks; the control group received daily intraperitoneal injection of saline.The levels of serum T3,T4 were assayed by radioimmunoassay method,and the level of syntaxin-1 in hippocampus was analyzed by immunohistochemistry.ResultsIn the hypothyroidism group,the levels of serum T3,T4[(0.34 ± 0.04),(43.01 ± 2.95)nmol/L] were significantly lower than those in the control group[(0.65 ± 0.05),(55.20 ± 3.56)nmol/L,all P ＜ 0.05].In the routine dosage of thyroxine treatment group,the levels of serum T3,T4[(0.63 ± 0.05),(55.04 ± 3.77)nmol/L] were not significantly different compared to the control group (all P ＞ 0.05 ).In the high dosage thyroxine thyroid hormone treatment group,the levels of serum T3,T4[(1.11 ± 0.10),(96.68 ± 6.42)nmol/L] were significantly higher than those in the control group(all P ＜ 0.05).The levels of syntaxin-1 protein in the CA1,CA3 and dentate gyrus(DG) of all layer regions of hippocampus (0.059 ± 0.016,0.064 ± 0.014,0.068 ± 0.016,0.069 ± 0.017,0.072 ± 0.016,0.070 ± 0.011,0.051 ± 0.012,0.072 ± 0.017) were significantly higher compared to the control group(0.037 ± 0.008,0.045 ± 0.010,0.042 ±0.009,0.040 ± 0.010,0.053 ± 0.009,0.042 ± 0.009,0.032 ± 0.007,0.047 ± 0.010,all P ＜ 0.05).In the routine dosage and the high dosage thyroxine thyroid hormone treatment group,the level of syntaxin-1 in CA1,CA3and DG regions(0.041 ± 0.011,0.046 ± 0.017,0.044 ± 0.014,0.037 ± 0.008,0.051 ± 0.010,0.043 ± 0.010,0.033 ± 0.011,0.045 ± 0.014 and 0.040 ± 0.010,0.045 ± 0.011,0.043 ± 0.010,0.033 ± 0.009,0.050 ± 0.010,0.041 ± 0.009,0.032 ± 0.009,0.046 ± 0.009)were not significantly different compare to the control group(all P＞0.05).ConclusionThe expression of syntaxin-1 in hippocampus of adult-onset hypothyroidism is increased,which can be reversed by routine dosage treatment of thyroxine.

OBJECTIVETo assess the state of glucose metabolism and beta-cell function in obese and overweight children.

METHODSLevels of glucose and insulin were detected during oral glucose tolerance test in 52 obese and overweight children aged 11.3 +/- 1.8 years with body mass index (BMI) 30.2 +/- 19.2 kg/m(2). Insulin resistance index (IR = FIN x FPG/22.5), insulin sensitivity index (IS = 1/FIN x FPG) and ratio of insulin increment to glucose increment at 30' (I(30)-I(0)/G(30)-G(0)) post oral glucose were measured. (FIN = fasting insulin. FPG = fasting plasma glucose). The IR, IS and the ratio post oral glucose were compared among groups with varying BMI and between groups of impaired glucose tolerance (IGT) and control. Serum triglyceride determination and B ultrasonography of liver were performed.

RESULTS(1) one patient with type 2 diabetes (1.9%) and 5 patients with IGT (9.6%) were found. (2) IR (> or = 2.8) was observed in 76.9% of the cases. (3) The IR, IS and their ratio showed no difference between the compared groups. (4) IR and IS did not show significant difference but there was significant difference in ratio between the IGT and control group. (5) Increased serum triglyceride and fatty liver were noted in 36.5% and 53.3% of the cases, respectively.

CONCLUSIONThe results indicated that insulin resistance and reduced insulin sensitivity in obese and overweight children are common, and these changes seemed not to correlated with the varying degree of BMI. Beta-cells function was obviously impaired in obese children with IGT and disorder of lipid metabolism exists in many obese and overweight children revealed.

Adolescent ; Body Mass Index ; Child ; Female ; Glucose Tolerance Test ; Humans ; Insulin ; secretion ; Insulin Resistance ; Male ; Obesity ; metabolism ; Overweight ; metabolism

Chemical constituents of ethyl acetate extract of Illicium burmanicum were isolated and purified by various chromatographic methods,including Silica gel, Sephadex LH-20, C18 reverse-phased silica gel, Preparative TLC and Preparative HPLC. Their structures were identified by spectral analysis including NMR and MS data. Fourteen compounds were separated from I. burmanicum and their structures were identified as 7S,8R-erythro-4,7,9,9'-tetrahydroxy-3,3'-dimethoxy-8-O-4'-neolignan (1), 7R,8R-threo-4,7, 9,9'-tetrahydroxy-3,3 '-dimethoxy-8-O-4'-neolignan(2) ,polystachyol(3), (-) -massoniresinol(4), angustanoic acid F (5), trans-sobrerol(6), (3S,6R) -6,7-dihydroxy-6,7-dihydrolinalool (7), (3S, 6S) -6,7-dihydroxy-6,7-dihydrolinalool (8), 2,6-dimethoxy-4-allyl-phenol (9), 3,5-dihydroxy4-hydroxy benzaldehyde (10), 3-hydroxy4-methoxybenzaldehyde (11), methyl vanillate (12), shikimic acid ethylester (13) and beta-sitosrerol (14). Except compound 14, the rest thirteen compounds were separated from this plant for the first time.
Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Illicium ; chemistry ; Molecular Structure ; Spectrometry, Mass, Electrospray Ionization

OBJECTIVEPrader-Willi syndrome (PWS) is an example of a human genetic disorder that involves imprinting genes on the proximal long arm of chromosome 15 and SNRPN gene as a candidate gene for this syndrome. The purpose of this study was to show the molecular genetic defects and genomic imprinting basis in Chinese PWS patients and to evaluate the clinical applications of a differential diagnostic test for PWS.

METHODSFluorescence in situ hybridization (FISH) and methylation-specific PCR (MSPCR) techniques were applied for 4 clinically suspected PWS patients. Using three probes, including SNRPN probe for identification of the critical locus in PWS region, D15Z1 and PML control probes for identification of the 15p arm and 15q arm, the authors detected the deletions 15q in PWS. MSPCR was based on sodium bisulfite treatment of DNA and PCR primers specific for the maternal and paternal allele.

RESULTSWhen hybridized with mixed probes, it was found in 2 patients that the central specific signal was absent, but both the flanking control signals were retained, indicating SNRPN gene deletion of chromosome 15q11-13. Bisulfite-modified DNA from all PWS children amplified with methylated allele-specific primer pair showed only maternal 131bp PCR product, indicating the maternal uniparental disomy (UPD15).

CONCLUSIONGenomic imprinting plays an important role in the molecular pathogenesis of PWS that caused by paternal microdeletions of 15q11-q13 or maternal UPD of chromosome 15. The basic defect seemed to be an absence of function of PWS genes that are normally expressed only from the paternal chromosome 15. MSPCR is a rapid and simple PCR-based assay compared with other cyto-molecular tests and its results were consistent with the clinical diagnosis of PWS, so it seems to be a reliable diagnostic method for PWS patients who show abnormal methylation at SNRPN. The genetic differential tests for PWS are important in determining familial recurrence risk.

Adolescent ; Autoantigens ; Chromosome Deletion ; Chromosomes, Human, Pair 15 ; genetics ; Gene Deletion ; Genomic Imprinting ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymerase Chain Reaction ; methods ; Prader-Willi Syndrome ; genetics ; Ribonucleoproteins, Small Nuclear ; genetics ; snRNP Core Proteins

Adolescent ; Body Height ; Chromosomes, Human, X ; Female ; Growth Hormone ; deficiency ; Humans ; Karyotyping ; Monosomy ; Mosaicism ; Turner Syndrome ; genetics ; metabolism ; pathology

Adolescent ; Androgen-Insensitivity Syndrome ; genetics ; Female ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Receptors, Androgen ; genetics ; Sequence Analysis, DNA

OBJECTIVETo elucidate the curative and adverse effect of recombinant human growth hormone (rhGH) in 2 patients with isolated-growth hormone deficiency type IA (IGHDIA), to track sexual development and pregnancy, and reassess the quality of life in the adulthood.

METHODThe authors summarized the data of 2-sister cases with IGHDIA; followed up for assessment of height, weight, blood pressure and sexual development; detected fasting blood lipids, glucose, insulin, insulin growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3); made an investigation of education and occupation, and so on.

RESULTAfter 6.2 and 7.3 years treatment with rhGH, the two sisters had considerably improved height from -7.8 SDS, -8.8 SDS to -2.6 SDS and -1.3 SDS respectively. No evident side effect was observed. They had normal sexual development and pregnancy. The levels of IGF-1 and IGFBP-3 were still low, in the elder sister they were 46.6 µg/L, 2460 µg/L, and in the younger 52.4 µg/L, 2430 µg/L. No hyperlipidemia, diabetes or obesity occurred.

CONCLUSIONLong term therapy with rhGH may improve final adult height of individuals with IGHDIA. They can have normal sexual development and pregnancy. Metabolic syndrome did not occur during the follow-up period.

Child ; Dwarfism, Pituitary ; classification ; therapy ; Female ; Follow-Up Studies ; Human Growth Hormone ; therapeutic use ; Humans ; Siblings

OBJECTIVETo assess the influence of growth hormone receptor (GHR) Ex3 genotype on the short-term response to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS).

METHODSThirty prepubertal children with ISS receiving rhGH treatment [0.116±0.02 IU/(kg/d)] were randomly recruited. The GHR Ex3 locus was genotyped using a PCR multiplex assay. The growth data including growth velocity, height SDS for chronological age (HtSDSCA), height SDS for bone age (HtSDSBA) and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment.

RESULTSAfter 6 months of rhGH treatment, the children with ISS carrying d3/d3 alleles showed a significantly higher increment in growth velocity than those carrying fl/fl alleles (6.3±1.6 cm/year vs 3.4±0.5 cm/year; P<0.05).

CONCLUSIONSThe polymorphism in GHR Ex3 is associated with the responsiveness to rhGH treatment, showing that the growth velocity in ISS children with d3/d3 genotype is significantly higher than those with fl/fl genotype.

Child ; Exons ; Female ; Genotype ; Growth Disorders ; drug therapy ; genetics ; Human Growth Hormone ; therapeutic use ; Humans ; Male ; Polymorphism, Genetic ; Receptors, Somatotropin ; genetics

Adolescent ; Brain ; pathology ; Child ; Craniopharyngioma ; pathology ; physiopathology ; therapy ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Pituitary Neoplasms ; pathology ; physiopathology ; therapy