The effect of gonadotropin-releasing hormone analogue(GnRHa) on lineafity growth and final height in 82 girls with central precocious puberty (CPP) was evaluated. The growth velocity in the second year was positively correlated with the difference value of bone age between the first year and the second year after treatment. The height standard deviation score for bone age and predicted aduh height increased after treatment. Twenty-six girls who had been followed to final height obtained better adult height than target height. GnRHa in combination with aerobic exercise increases linear growth and final height in girls with CPP.

Objective To investigate the pattern of plasma kisspeptin levels in normal female during various pubertal Tanner stages and the girls with idiopathic central precocious puberty(ICPP) or with premature thelarche(PT), and to evaluate the significance of detecting plasma kisspeptin levels as a new criterion for early differentiation between ICPP and PT.Methods Each study group of normal pubertal females with Tanner stage Ⅰ to Ⅴ comprised 16 to 19 individuals.The levels of plasma kisspeptin were also detected in girls with ICPP(n= 10)or PT(n = 12).The plasma kisspeptin levels were detected by enzyme-linked immunosorbent assay (ELISA).Results The level of kisspeptin was significantly higher in ICPP group than in that of PT group [(1.73±0.23 vs1.43±0.29) ng/ml, P＜0.05].Among the normal pubertal females, the level of kisspeptin decreased gradually from Tanner stage Ⅱ to Tanner stage Ⅴ, being highest in Tanner stage Ⅱ [(1.73±0.22) ag/ml] ,lower in stage Ⅳ and Ⅴ than in stage Ⅰ and Ⅲ (P＜0.01).Conclusions Plasma kisspeptin level was the highest during Tanner stage Ⅱ in normal female pubertal development.It is significant to detect plasma kisspeptin level for the differential diagnosis of ICPP and PT.

Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients (6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration) and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.

Objective To analyze blood Met、 Phe 、Tyr、 Arg、 Cit、 Orn、 Ser、 Thr、 C0、 C2、 C3、 C14、C14 ∶ 1 , C16 , C16 ∶ 1 , C18 , C18 ∶ 1 and urine 4-OH-PHPLA , 4-OH-PHPPA level of NICCD patient and discuss the application value of diagnosis NICCD. Methods From May 2011 to May 2015, 21 NICCD patient were diagnose in Guangxi Newborn Screening Center. Meanwhile, 100 normal children were selected as the control group. Blood Met, Phe, Tyr and other factors and urine 4-OH-PHPLA, 4-OH-PHPPA level were analyzed by SPSS. Results In the experimental group, blood Met, Phe, Tyr and many other indexes and urine 4-OH-PHPLA, 4-OH-PHPPA level were higher and blood Orn/Cit were lower than the control group(P < 0.05), while blood C2and Cit/Arg were increased (P > 0.05). Conclusion NICCD patient has abnormal biochemical index. Blood test by TMS and urine test by GC-MS are very important in NICCD diagnosis.

Objective To evaluate the value of chorionic villus cells karyotype analysis in prenatal diagnosis during the first tri-mester of pregnancy.Methods Pregnant women with prenatal diagnosis indications were punctured by guiding abdominal B-mode ultrasound to get villi tissue which was then to develop cell culture,chromosome preparation and karyotype analysis.Results A to-tal of 1 140 cases were successfully cultured,and the successful cultivating rate was 98.2% (1 140/1 160).Among them,chromo-somes of 62 cases were detected to be non-polymorphic structural abnormalities,including 32 abnormal chromosome number,5 chro-mosome balanced translocation,3 chromosome deletion,and 22 chimeras.What′s more,20 cases were detected to be chromosomal inversion,19 cases of chromosome 9 were inversion,and one with chromosome Y was inversion.Conclusion Karyotype analysis of villus cell could help to detect fetal chromosomal abnormalities during early pregnancy and get early intervention.It was significant to reduce the child′s birth with chromosome abnormalities.

Objective To explore the association of peroxisome proliferators-activated receptor-γ coactivator-1 (PPARGC1) Gly482Ser with apolipoprotein E (ApoE) variations in longevity (aged above 90 yrs) Hans in Guangxi Yongfu and to explore the potential association between the variations and metabolic traits.Methods Based on our survey in Guangxi Yongfu in 2008-2011,212 elderly cases (aged 90～105 years) were included as longevity group and 207 cases without longevity history were included as control group.By household survey,we collected the longevity related parameters,blood glucose,blood lipid,blood pressure and other related metabolic traits.Peripheral blood was collected to extract DNA,the gene variations of Gly482Ser and ApoE were genotyped,and the database with genome and traits information were set up.By univariate analysis and multivariate genetic statistical analysis,the association between the variations and longevity and metabolic traits was assessed.Results Compared with the control group,the levels of fasting blood glucose,total cholesterol and low density lipoprotein were lower in the longevity group.Gly482Ser was genotyped in all samples and fully fulfilled the Hardy Weinberg equilibrium.After the Bonferroni correction,recessive model failed to find association between GG genotype and longevity.Stratified analyses by ApoEε4 allele revealed that,in the subgroup with no ApoEε4,PPARGC-1 GG genotype was positively associated with longevity in the recessive model,even after Bonferroni correction (OR =1.72,P＜0.05).In addition,longevity group with Gly482Ser GG genotype seemed to have relativelower fasting blood glucose (P ＜ 0.05) and higher high density lipoprotein levels (P ＜ 0.05).Conclusions Longevity Hans in Guangxi Yongfu preserve better metabolic state compared with the control group.GG genotype of Gly482Ser in PPARGC-1 is positively associated with longevity,which depends on not carrying the risk allele of ApoE ε4.

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

OBJECTIVETo survey the current status of pubertal development of Chinese children and to compare the precocious puberty prevalence of different regions.

METHODSA 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.

RESULTSBreast 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% compared with 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.

CONCLUSIONThe 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.

Adolescent ; Age of Onset ; Child ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Humans ; Male ; Obesity ; complications ; Prevalence ; Puberty, Precocious ; complications ; diagnosis ; epidemiology ; Sexual Development

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

Objective To compare cortical bone screwing and Endobutton plating for the treatment of ankle joint fracture complicated with injury to the distal tibiofibular syndesmosis. Methods Fifty-eight pa-tients with ankle joint fracture and injury to the distal tibiofibular syndesmosis were treated at Department of Orthopedic Surgery, The Affiliated Hospital to Guangdong Medical University from January 2014 to June 2016. Half of them were treated by conventional cortical bone screwing. They were 16 males and 13 females with an average age of 43.2 ± 4.1 years. The other half were treated by Endobutton plating. They were 15 males and 14 females with an average age of 44.1 ± 3.9 years. The 2 groups were compared in terms of intraoperative bleed-ing, operation time, tibiofibular clear space ( TBCS ) , tibiofibular overlap ( TBOL ) , the American Orthopedic Foot Ankle Society (AOFAS) ankle-hindfoot scale and complications. Results The cortical bone screwing group needed significantly shorter operation time (63.4 ± 5.4 min) than the plating group (89.6 ± 6.2 min) ( P ＜0.05) . There were no significant differences between the 2 groups in intraoperative bleeding ( 68.9 ± 6.3 mL versus 67.4 ± 6.4 mL ) , TBCS ( 4.6 ± 0.3 mm versus 4.7 ± 0.3 mm) , TBOL ( 7.5 ± 0.4 mm versus 7.4 ± 0.4 mm ) , good to excellent rate by AOFAS score ( 72.4% versus 75.9%) , or rate of complications ( 6.9% versus 10.3%) ( P ＞ 0.05 ). Conclusion Since cortical bone screwing and Endobutton plating show no signifi-cant difference for the treatment of ankle joint fracture complicated with distal tibiofibular syndesmosis injury, a proper surgical procedure should be decided according to the specific conditions of the patient.