Objective To explorethe influence of leptin on the onset of puberty, and to study the relationship between leptin and hormones relevant to gonadal axis and its effect on idiopathic central precocious puberty (ICPP) in obese girls. Methods Fifty-six girls with ICPP fulfilled the current diagnostic criteria and came from pediatric endocrinology clinic. The 56 cases were divided into 2 groups according to whether there was obesity or not: 38 non-obese girls with ICPP and 18 obese girls with ICPP. Forty-three age-matched prepubertal girls were divided into non-obese prepuberty group (25 girls) and obese prepuberty group (18 girls). Serum leptin wasassayedwithELISA,andserum FSH, LH and E 2 were determined with immunochemiluminescent. Results As compared with non-obese prepuberty group [(4.1?1.5)?g/L], the leptin concentrations in obese ICPP group [(14.7?7.5)?g/L], non-obese ICPP group [(8.8?5.1)?g/L] and obese prepuberty group [(8.0?5.3)?g/L] were significantly higher (P

Objectives To investigate the causes of short stature in Turner syndrome (TS). Methods 86 patients were di-agnosed with TS by karyotypes from 2004 to 2013. According to the deletion types of the X chromosome short arm, growth hor-mone (GH), insulin-like growth factor-1 (IGF-1) and thyroid function, the TS patients were divided into different groups and com-parison was made among groups. Results Ht SDS in three groups with different extent of the deletion of the X chromosome short arm were (-4.39±1.08), (-3.26±1.25) and (-2.84±0.15) (P<0.05). The proportion of growth hormone deifciency (GHD) in the three groups were 62.5%, 38.9%and 0%(P<0.05). Ht SDS in groups with different degree of IGF-1 level were (-4.37±1.10), (-3.82±1.07) and (-3.25±0.91) (P<0.05). There was no signiifcant difference of Ht SDS between hypothyroidism patients with and without GHD (P>0.05). Conclusions The deletion of X chromosome short arm may cause the short stature in TS. The GH-IGF-1 axis in TS is impaired, but GHD is not related to short stature in TS.

Objective Turner syndrome (TS) is characterized with reduced adult height and gonadal dysgenesis and associated with a number of complications including thyroid disease.The purpose of this study was to investigate the prevalence of thyroid diseases and the association between thyroid autoantibodies (TAA) and thyroid dysfunction,age,and karyotype.Methods Fifty-five girls with TS were diagnosed by chromosome analyses and were divided into 2 groups according to whether there was TAA-positive or not:TAA-positive group and TAA-negative group.Thyroid autoantibodies (antithyroglobulin antibody,thyroperoxidase antibody),thyroid function (free T3,free T4,and TSH) were determined with immunochemiluminescent.Ultrasound was applied in TAA-positive group.Results Thyroid functions in 34 TAA-negative girls were normal.Of the 21 TAA-positive girls (21/55,38.2％),7 girls suffered from hypothyroidism and 3 girls had hyperthyroidism.All of 21 TAA-positive girls were diagnosed as cases of Hashimoto's thyroiditis.As compared with the girls in TAA-negative group,the age of girls in TAA-positive group was significantly higher [(12.16 ± 2.55 vs 9.95 ± 4.50) years,P＜0.05].6 cases under 5 years old were TAA-negative.31.3 ％ (5/16) of patients aged 5-10 years old,48.1％ (13/27) aged 10-15 years old and 50.0％ (3/6) above the age of 15 were TAA-positive.There were no significant differences in the numbers of TAApositive cases among different karyotypes (P ＞ 0.05).Thyroid ultrasound in girls with positive-TAA showed the abnormal echogenicity in bilateral lobus lateralis of thyroid.Conclusion Patients with TS are prone to suffer from Hashimoto's thyroiditis leading to thyroid dysfunction,when they are older than 5 years.Thyroid function should be evaluated yearly in girls with TS after 5 years old.There is no specific association between the incidence of autoimmune thyroid disease and certain karyotypes.

Objective To analyze the clinical characteristic s of an infant with congenital lipoid adrenal hyperplasia (CLAH),and to sequence the acute regulatory protein (steroid acute regulatory,StAR) gene of the infant patient and her pedigree.Methods Physical examination,laboratory tests,and imaging examination of the 11-month-old patient with CLAH were collected.DNA was extracted from blood samples of the patient and her parents.The 7 exons of StAR gene were amplified by PCR and then sequenced.Results Dark skin,girl vulva,and one each 1.0 cm×1.0 cm palpable lump in inguinal area bilaterally were observed.The adrenocorticotropic hormone (ACTH) was 253 pg/ml,cortisol was 27.6 nmol/L at 8 am,17-hydroxyprogesterone was 3 nmol/L.Uhrasound showed that sign of testicular ultrasonography existed in bilateral inguinal regions.Karyotype analysis showed 46,XY.Sequencing of PCR amplified fragments showed that there were two heterozygous mutations c.229C ＞ T,p (Gln77X) and C.659A＞G,p (His220Arg) of StAR gene in this patient.By rectifying the disturbance of electrolyte,and treating with hydrocortisone and 9α fludrocortisone,etc,the patient has been stable so far.Conclusion The patient presents typical clinical manifestations.Two heterozygous mutations including c.229C ＞T,p (Gln77X) from maternal and C.659A＞G,p (His220Arg) from paternal of StAR gene were detected.Wherein the c.659A＞G,p.(His220Arg) as a novel point mutation of StAR gene,has not been reported so far.

Objective:To determine the correlation of BCG concentration in Freund complete adjuvant ( FCA) and severity of arthritis during arthritis establishment in DBA 1/j male mice induced by bovine type Ⅱcollagen.Methods:CIA was induced by the im-munization of DBA1/j mice with bovine type Ⅱcollagen and BCG of various concentrations dissolved in FCA.To ascertain the effects administering the collagen booster,CIA-related features(including body weight,clinical scoring of arthritis),TNF-αin serum and the histopathological changes in the spleen and the joints regions were measured.Results:4 mg/ml BCG induced more serious arthritis than 1 mg/ml in DBA1/j mice after collagen exposure.Conclusion:There is a positive correlation of arthritis severity with BCG.Which indicates that selection of adjuvant with suitable BCG concentration could determine pathological outcome in CIA mouse model .

Objective To detect genetic mutation of apolipoprotein B-100(apoB-100)in patients with primary hypercholesterolemia.Methods One special segment of apoB-100 gene from nucleotide 10549 to 10895 was amplified by polymerase chain reaction(PCR).The PCR products were denatured and hybridized with specific aligonucleotide labeled with digoxigenin,and were analyzed by single strand conformation polymorphism(SSCP)to detect the apoB-100 gene mutation 3531CGC→CGT or other mutations.Results Overall 41 members of 11 primary hypercholesterolemia families were detected,but the above genetic mutation was not detected.Conclusion This genetic mutation is unlikely to exist or of significantly low incidence in Chinese population,and might not be the main cause of primary hypercholesterolemia in the 11 primary hypercholesterolemia families.

Objective Our retrospective study was aimed to analyze the clinical value of serum CEA and CA19-9 in patients with chole-lithiasis.Methods The clinical data of 98 patients with cholelithiasis and 44 patients with inguinal hernia received treatment in our hospital from February 2011 to February 2015 were retrospectively analyzed.The expressive levels of CEA and CA19-9 of the patients were detected and compared.The important roles of CEA and CA19-9 in the patients with cholelithiasis were analyzed.Results The levels of CEA,CA19-9 and inflammatory factors in normal group and control group had no statistical differences (P>0.05).The levels of CEA,CA19-9 and inflam-matory factors in rising group were higher than those in control group (P<0.05).The levels of CEA,CA19-9,inflammatory factors before and after the treatment had no statistical differences (P>0.05),but the levels of CEA,CA19-9,inflammatory factors in rising group were obvi-ously decreased( P<0.05) .Conclusion The levels of CEA and CA19-9 in patients with cholelithiasis had correlation with inflammation of biliary tract,which will increased by severe choleithiasis.

OBJECTIVE To study the electrophysiological character of the Auditory Brainstem Response to Speech Sounds (s-ABR) in healthy adults. METHODS We assessed the auditory brainstem response to a synthesized stop-consonant speech syllable /da/ in 40 native-Chinese speech adults (20 female). Timing components of the response were compared between males and females to determine the relationship between inducing rate ,latency of waves and sex and age of participants. RESULTS The latency of wave V and A was shorter in females was that of males (Vt(38)=-3.601, P =0.001, At(38)=-2.829, P=0.007).The other peaks latency except V、A can see difference between gender but do not have statistics differences (P>0.05); The latency has no statistical difference in different age (P>0.05); The amplitude has no statistical difference in different gender and age (P>0.05). CONCLUSION The waves of s-ABR has good stability for studying mechanism of auditory speech processing tools.

[ ABSTRACT] AIM:To study the expression of miR-203 in tongue carcinoma tissues and the effect of miR-203 over-expression on the viability and invasion ability of Tca 8113 cells.METHODS:Twenty-eight pairs of tongue carcinoma tissues and adjacent nontumor tissues were collected , and the clinicopathological characters were analyzed .miR-203 was detected in the tongue tissues of 28 patients with tongue carcinoma by real-time PCR.miR-203 mimics and scramble were transfected into Tca8113 cells by Lipofectamine 2000.The expression of miR-203 was detected in Tca8113, Tca8113-miR-203 mimics and Tca8113-scramble cells by RT-qPCR.The cell viability was measured by CCK-8 assay.The cell invasion ability was determined by Transwell chamber invasion experiment .RESULTS:miR-203 expression was significantly down-regulated in the tongue carcinoma tissues compared with those in the adjacent nontumor tissues .The expression of miR-203 was associated with TNM stage and lymph node metastasis .Up-regulation of miR-203 inhibited the viability and invasion a-bility of Tca8113 cells.CONCLUSION:miR-203 suppresses the growth and invasion of tongue carcinoma cells .miR-203 may be a potential therapeutic target for treating human tongue cancer .

OBJECTIVE: To assess the association of CYP2C19 and CYP3A5 gene polymorphisms with the risk of myocardial infarction. METHODS: Five hundred patients with myocardial infarction and 500 healthy controls were randomly selected. Fluorescent PCR and Sanger sequencing were used to detect the CYP2C19 and CYP3A5 gene polymorphisms. Logistic regression was used to analyze the correlation between the polymorphisms and myocardial infarction. Quanto software was used to evaluate the statistical power. RESULTS: The two groups had significant difference in the frequency of AG, GG genotypes and A allele of the CYP2C19 gene rs4986893 locus and the AA, AG, GG genotypes and G allele of the CYP3A5 gene rs776746 locus ( P<0.05), but not in the frequency of genotypes and alleles of CYP2C19 gene rs4244285 and rs12248560 loci, and the AA genotype of the rs4986893 locus. After correction for age, gender, and body mass index, Logistic regression indicated that the AG genotype and A allele of the CYP2C19 gene rs4986893 locus, and the GG genotype and G allele of CYP3A5 gene rs776746 locus are associated with susceptibility of myocardial infarction, while rs4986893 GG genotype and AA and AG genotypes of rs776746 may confer a protective effect. Based on the sample size and allele frequency, analysis with Quanto software suggested that the result of this study has a statistical power of 99%. CONCLUSION CYP2C19 and CYP3A5 gene polymorphisms may increase the risk for myocardial infarction.
Cytochrome P-450 CYP2C19/genetics* ; Cytochrome P-450 CYP3A/genetics* ; Gene Frequency ; Genotype ; Humans ; Myocardial Infarction/genetics* ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide