Gonadotropin-releasing hormone (GnRH) dependent precocious puberty/central precocious puberty (GDPP/CPP) is one of the common diseases of the pediatric endocrine system.CPP is mainly treated with gonadotropin-releasing hormone analogues (GnRHa) internationally.They slow the progression of bone age and improve adult height in children with CPP by inhibiting the activity of the hypothalamic-pituitary-gonadal axis and the secretion of sex hormones.In clinical practice, the populations who benefit from GnRHa treatment and the best GnRHa treatment plan still need to be investigated, and the long-term efficacy and safety evidence of GnRHa should be further improved.

Objective To detect and differentiate six major human herpesviruses DNA by PCR, RFLP, DNA clone and sequence analysis. Methods Based on the sequence of well coonserved regions of the DNA polymerse gene in human herpesvimses, we synthesized two pairs of primers, including one pair designed to amplify herpes simplex virus type 1 and 2, Epstein Barr virus and cytomegalovirus, other pair of primer to varicella zoster virus and human herpesvirus 6 by PCR. Identification of the virus species was achieved through restriction enzyme digestion with BamHI and BstUI. Results The products of six human herpesviruses after PCR amplification were from 510bp to 592bp and allowed characterization of herpesvirus type with restriction endonulease analysis. The sensitivity could reach 0.1fg DNA and had no cross reaction to human genomic DNA, bacteria, fungas and virus. 89 cerebrospinal fluids(CSF) and 75 blood specimens were tested for the presence of hepersvirus DNA by this PCR assay, in which 13(14.6%) CSF and 26(34.7%) blood specimens were positive. Comparatively, 10(13.3%) were positive by ELISA for HSVⅠ/Ⅱ,EBV,CMV IgM in blood specimens and significantly lower than that of the PCR rate (P

Islet β cell secretion deficiency and( or) the decreased insulin sensitivity of target tissue are the important pathophysiological mechanisms of diabetes. So,detection and assessment of isletβcell function in the early stages,could be of great significance for disease severity evaluation,early intervention and prognosis of the disease. At present,the main methods of the testing and assessment ofβcell function includeβcell function evaluating indexes,pulsatile insulin secretion,insulin secretion by glucose or non-glucose secretagogues and func-tion testing by other secretions of isletβcells. Among of them,βcell functional assessment methods by detecting C-peptide( especially aspects such as 90 minutes of C-peptide testing in mixed-meal tolerance test,urinary C-pep-tide creatinine ratio) have experienced some progress in recent years.

Objective To explore the relationship between obese children with benign acanthosis ni-gricans and insulin-resistant and type 2 diabetes mellitus. Methods Levels of glucose, insulin, and glucose/ insulin ratio were measured on fasting blood specimens, and anthropometric parameters including waist/hip ratio, fat mass, body fat percentage and body mass index were examined in 42 obese children with benign acanthosis nigricans, 60 cases of simple obesity and 20 healthy children controls. Glucose tolerance tests were performed in groups of obese children with benign acanthosis nigricans and simple obesity, respectively. Results Two of 42 obese children with benign acanthosis nigricans were diagnosed as type 2 diabetes mellitus. The rate of abnormal glucose tolerance and levels of blood sugar during 60 min and 120 min after glucose tolerance were significantly higher in acanthosis nigricans children than those in simple obesity (P

To report the process of diagnosis and treatment of 1 case with SRY gene mutation of 46, XY complete gonadal dysplasia, and to discuss the clinical characteristics, diagnosis and treatment of the disease.Due to clitoral enlargement for 8 months, a 9 years old girl was admitted to the Children′s Hospital Affiliated to Zhejiang University School of Medicine.Previously, she had early breast development, and suffered from high gonadotropin expression when she was 6 years and 4 months old.Physical examination: breast B3 stage, female vulva, clitoris hypertrophy, normal urethra, normal vaginal opening, slightly thick hymen ring, the development of pubic hair was 2 stages, and Prader score level 1.Laboratory data showed elevated levels of estradiol, testosterone, and human chorionic gonadotrophin.Genetic examination revealed that the chromosome karyotype was 46, XY and SRY gene detection was positive.Therefore, the patient was diagnosed with 46, XY complete gonadal dysplasia.Bilateral gonadectomy was performed, and the posto-perative pathological diagnosis was bilateral gonadoblastoma with left dysgerminoma.The tumor did not recur after che-motherapy.The etiology of early breast development needs to be carefully identified.Patients with sexual characteristics dysplasia need to accept the chromosome karyotype analysis and gene detection, and surgical exploration should be performed when necessary for a correct diagnosis as soon as possible.

BACKGROUND:Interlocking intramedullary nailing is a main method for bone fractures,but traditional static intramedullary nails usually lead to nail breakage and loosening.Thereafter,we design a novel high-thread wooden club-shaped screw (HTWCSS) and explore its mechanical properties.OBJECTIVE:To measure the bend strengths of HTWCSS,analyze its stress distribution,and to evaluate its biomechanical properties,thereby providing theoretical basis for its clinical application.METHODS:The bend strength of HTWCSS and traditional nails were measured via three-point bending experiments.Transverse fractures of the middle tibia were simulated using finite element method,and then the force and stress distribution of the two different nails were analyzed.RESULTS AND CONCLUSION:(1) The average maximum load of HTWCSS was 3.52 kN and 1.81 kN at span of 20 mm and 30 mm,respectively,which were larger than those of the traditional nails.(2) The average maximum displacement and the stress of HTWCSS were smaller than those of the traditional screws in finite element analysis,and the stress distribution was relatively dispersed.(3) The average maximum axial displacement and stress HTWCSS,traditional interlocking screws,wooden club-shaped screws and traditional screws were 131 MPa and 3.27 mm,162 MPa and 4.07 mm,26.5 MPa and 0.323 mm,and 34.3 MPa and 0.407 mm,respectively.(4) These results suggest that HTWCSS has relative high bend strength,and it is able to disperse stress and improve fatigue strength bend strength,further reduce screw broken.

Objective To evaluate the value of serum uric acid(UA)levels with reference to the age,waist circumference,and body mass index(BMI)in predicting the metabolic syndrome(MS)in obese children.Methods A total of 300 obese children,including 180 boys and 120 girls,were enrolled in this study.The height,BMI,waist and hip circumference,blood pressure,serum glucose,insulin and lipid profile in all participants were measured.Oral glucose tolerance test and insulin releasing test were performed.The boys or girls were divided into 4 groups according to the 4 quantile of UA level,respectively.The clinical characteristics and correlation of UA with the clinical indexes and MS components were compared.The binary Logistic regression analysis was applied in the risk of MS and its components for the 4 groups of obese children.The area under the receiver operating characteristic curve(ROC curve)of UA level,age,waist circumference and BMI were used to predict the MS.Results UA level was increased with the increase of age,waist circumference and BMI,and the UA level was significantly correlated with triacylglycerol,postprandial 2 h glucose(2 h PG)(r=0.196,0.174 in boys;r=0.291,0.179 in girls).In boys,the adjusted odds ratio and 95％CI of the highest quartile of UA for triglyceridemia was 2.71(95％CI:0.77-9.58);which in girls,the adjusted odds ratio and 95％CI of the highest quartile of UA for hyperglycemia,hypertension were 8.45(95％CI:1.76-40.52)and 3.93(95％CI:0.66-23.33),respectively,with significant differences.In boys,the area under the ROC curve of UA level,age,waist circumference and BMI which predict the MS were 0.652 0.626,0.621,0.62,respectively,and the differences were significant(all P<0.05).Conclusions The UA level is significantly correlated with the composition of MS,UA detection combining with reference to the age,waist circumference,and BMI is helpful for the identification of high risk groups of metabolic syndrome.

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

OBJECTIVE: To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity. METHODS: High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene. RESULTS: DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother. CONCLUSION The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.

OBJECTIVETo investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.

METHODSClinical data of the patient was collected. The coding regions of PLA2G6 gene was subjected to Sanger sequencing using blood DNA from the patient and her parents.

RESULTSThe patient has presented with psychomotor regression and hypotonia, followed by development of tetraparesis. A novel homozygous mutation G68A in the PLA2G6 gene was found by DNA sequencing, while her parents were both heterozygous carriers.

CONCLUSIONThe psychomotor regression and tetraparesis of the patient was caused by infantile neuroaxonal dystrophy due to a novel homozygous mutation in the PLA2G6 gene, which was inherited from her parents.

Adult ; Base Sequence ; Brain ; diagnostic imaging ; Child, Preschool ; DNA Mutational Analysis ; Female ; Group VI Phospholipases A2 ; genetics ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Molecular Sequence Data ; Mutation ; Neuroaxonal Dystrophies ; diagnostic imaging ; genetics ; Radiography