Etiology and clinical characteristics of 30 children with tumor-associated precocity / 中华实用儿科临床杂志

Objective To analyze the etiology and clinical characteristics of children with tumor-associated precocity.Methods Thirty children with tumor-associated precocity hospitalized in Department of Surgery of Beijing Children's Hospital Affiliated to Capital Medical University from Jan.2006 to Mar.2012 were selected as research subjects.The causes,clinical characteristics and treatment situation of the patients were retrospectively studied.Results The group of patients included 14 boys and 16 girls,with average age of (3.74 ± 2.44) years.Twenty-two patients (73.3％) were younger than 5 years old,and their etiological distributions listed as follows:8 cases were hypothalamic hamartoma(HH),2 cases were hypothalamic germinoma,1 case was arachnoid cyst,7 cases were adrenocortical tumor (in which 1 case was adenoma and 6 cases were adenocacinoma respectively),5 cases were ovarian cyst,2 cases were ovarian tumor (in which 1 case was endodermal sinus tumor and 1 case was sex cord-stromal tumor respectively),2 cases were MuCune-Albright syndrome,and 1 case was mediastinal teratoma,1 case was penis primitive neuroectoderm tumor,and 1 case was Leydig cell proliferation accompanied with neoplasma.Eleven patients(36.7％) suffered central precocious puberty,with HH (n =8) being the most common causes.Four patients with HH presented with gelastic epilepsy.Precocious puberty caused by HH patients could be safely controlled by gonadotropin-releasing hormone agonists.Nineteen patients(63.3％) suffered peripheral precocious puberty,with adrenocortical tumor being the most common cause for the boys and ovarian cyst being the most common cause for the girls.Besides that,the onset symptom of a patient with adenocacinoma was facial acne accompanied with hypertrichiasis and another patient with ovarian tumor had intermittent abdominal pain,and the onset symptoms of all the boys were external genital development and those of the girls were mammary development or colporrhagia,respectively.Conclusions Tumors are one of the most causes of precocious puberty in children.During the process of diagnosis and treatment of precocious puberty,imaging examinations on pituitary,gonad and adrenal gland should be paid great attention to and seldom occurred tumors should also be considered.For ovarian cyst patients with precocious puberty attention shall be paid attention to the differentiation from MuCune-Albright syndrome.

Relationships between fat mass and obesity associated gene and genetic onset mechanism of obesity in Chinese children / 中华实用儿科临床杂志

Objective To study the association of fat mass and obesity associated gene(FTO gene) and genetic onset mechanism of obesity in Chinese children.Methods Two hundred and one Chinese children with obesity in Beijing Children's Hospital Affiliated to Capital Medical University from Jan.to Sep.2010,were selected as research subjects,183 healthy adult blood donors were selected as normal controls.Mass Spectrometry techniques were used to study the distributions of the alleles and gene type of FTO in patients and controls.And the relationship between FTO gene polymorphism and obesity in Chinese children were studied.Results The distributions of 5 FTO gene polymorphisms (rs9939609A,rs8050136A,rs3751812T,rs1421085C,rs7193144C) in obesity patients and healthy controls had significant differences.And the Haplotype analysis showed that all of the single nucleotide polymorphisms(SNPs) were in linkage disequilibrium,and three out of six (CTGGTCTGG,TCTGCAAAA,CTGGCCTGG) had significant differences between obesity patients and healthy controls (P ＜ 0.05).Conclusions The gene polymorphisms of rs9939609,rs8050136,rs3751812,rs1421085,rs7193144 of FTO gene confer significant susceptibility to obesity in Chinese children.The haplotypes of CTGGTCTGG,TCTGCAAAA,CTGGCCTGG have significant differences between obesity patients and healthy controls.

Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).</p><p><b>METHODS</b>Three patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.</p><p><b>RESULTS</b>In the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.</p><p><b>CONCLUSION</b>In Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.</p>

Blood glucose profile in children and adolescents in Beijing area / 中华儿科杂志

<p><b>OBJECTIVE</b>There are scant data about normal reference values of blood glucose (BG) in children. This study was conducted to learn the BG profile of children and adolescents in Beijing area.</p><p><b>METHOD</b>The population for survey was selected as a stratified cluster sample from 8 urban and 10 rural areas in Beijing. Fasting capillary blood glucose (FCBG) was determined in 19,593 children and adolescents aged 6 to 18 years in 4 urban and 3 rural areas using haemosaccharometer model II [Roche Diagnostic, (Shanghai) Ltd].</p><p><b>RESULTS</b>There were 1 9112 (97.5%) individuals with complete records, the mean age was 12.1 +/- 3.3 years (ranged from 6 to 18.9 years); 9514 (49.8%) were boys, 9598 (50.2%) were girls, 9792 were (51.2%) from urban areas and 9320 (48.8%) from rural areas. The average level of FCBG in boys was higher than that in girls (4.7 +/- 0.5 vs. 4.5 +/- 0.5, u = 28.0, P < 0.01). Among urban children, the trend of variation of FCBG was similar between boys and girls, the levels of FCBG increased with age, the peak of FCBG was reached at 12-13 years in urban girls, and from the age of 15 years, the level of FCBG declined. In boys, the FCBG level increased slowly from 13 years of age, there was no significant variation until 17 years old, and declined at the age of 18. Among suburban children, the trend of variation of FCBG was similar between boys and girls, both of them had two peaks, from 6 to 11 years old, FCBG of both boys and girls increased with age, and both reached the first peak at the age of 11 years. While at 13 years of age, there was an obvious drop in FCBG level. From 14 years of age on, there was a rise of FCBG in both boys and girls, and the second peak of FCBG was reached at 15 and 16 years of age in girls and boys respectively. The FCBG level of urban children was higher than that of rural children (4.7 +/- 0.5 vs. 4.6 +/- 0.5, u = 13.8, P < 0.01). The level of FCBG in overweight and obese children was higher than that of normal children. More boys, more obese and more urban children had abnormal FCBG.</p><p><b>CONCLUSIONS</b>The blood glucose level of children was associated with age, gender, obesity and district.</p>

Clinical Analysis of Gitelman Syndrome in Children / 实用儿科临床杂志

Objective To explore the clinical characteristics of Gitelman syndrome in children and the difference between Gitelman syndrome and Bartter syndrome.Methods Clinical date,biochemical tests and therapy of 6 patients diagnosed as Gitelman syndrome in Beijing children′s hospital from Mar.to Dec.2006 were retrospectively analyzed.At the same time,the relative articies of Gitelman syndrome and Bartter syndrome were reviewed.Results The symptoms of 6 patients appeared early.The age of onset of Gitelman syndrome at infancy stage,the main complains were growth delay,weakness,tetany.All patients had normal blood pressure.The biochemical tests showed hypocalemic,hypomagnesium,alkalosis and hyperreninemia.But the concentration of aldosterone was normal or little higher.The manifestations of all patients were relieved after taking both potassium and magnesium.Conclusion Gitelman syndrom and Bartter syndrome have differences at clinical syndrome and machanism of onset.

Clinical significance of pancreatic beta-cell function in obese children with acanthosis nigricans / 中华儿科杂志

<p><b>OBJECTIVE</b>The strong relation between type 2 diabetes mellitus and obesity with acanthosis nigricans is widely concerned. This study investigated the pancreatic beta-cell function in obese children with acanthosis nigricans, so as to find out the role of insulin secretion and insulin resistance in obese children with acanthosis nigricans.</p><p><b>METHODS</b>Thirty-five obese children with acanthosis nigricans (19 males and 16 females with mean age 12.8 +/- 1.5 years) were enrolled in this study. Thirty-eight obese children (21 boys and 17 girls with mean age 11.9 +/- 2.6 years) and 39 normal children (20 boys and 19 girls with mean age 11.2 +/- 2.2 years) were recruited as obese and normal control groups. The levels of serum fasting insulin, C-peptide, proinsulin and true insulin were measured in all the subjects. The ratios of proinsulin/insulin and proinsulin/C-peptide were calculated. Homeostasis model assessment was applied to assess the status of insulin resistance and basic function of pancreatic beta-cell.</p><p><b>RESULTS</b>The levels of fasting insulin, C-peptide proinsulin, true insulin, the ratios of proinsulin/insulin and proinsulin/C-peptide, insulin resistance index and insulin secretion index of obese children with acanthosis nigricans, obese control children and normal control children were: 18.5 (5.0-60.5) pmol/L, 12.4 (6.1-35.8) pmol/L and 5.1 (2.0-32.8) pmol/L; 3.9 (1.3-14.0) microg/L, 2.4 (1.1-4.0) microg/L and 1.1 (1.0-4.2) microg/L; 28.8 (9.9-64.2) pmol/L, 9.5 (2.2-34.5) pmol/L and 4.2 (2.0-16.0) pmol/L; 33.0 (6.2-66.0) pmol/L, 10.6 (4.8-29.4) pmol/L and 4.5 (1.3-30.1) pmol/L; 1.2 (0.4-8.9), 0.9 (0.2-1.9) and 0.8 (0.4-2.0); 6.9 (2.5-36.6), 4.7 (1.2-12.3) and 3.6 (1.2-9.6); 5.0 (0.8-14.1), 2.6 (1.3-8.1) and 1.2(0.4-6.9); 303.3 (52.2-1,163.8), 213.6 (84.6-572.0) and 51.1 (19.1-561.4). The levels of fasting insulin, C-peptide, proinsulin, true insulin, the ratios of proinsulin/insulin and proinsulin/C-peptide, insulin resistance index and insulin secretion index in obese children with acanthosis nigricans were significantly higher than those in obese children (P < 0.001) and normal children (P < 0.001).</p><p><b>CONCLUSION</b>Obese children with acanthosis nigricans had higher insulin resistance and pancreatic beta-cell dysfunction; acanthosis nigricans may be a skin sign of high risk of type 2 diabetes mellitus.</p>

Survey of type 1 diabetes incidence in children from 1997 to 2000 in Beijing area / 中华儿科杂志

<p><b>OBJECTIVE</b>The incidence of type 1 diabetes varied in different countries, different nations and different regions. This survey was conducted to clarify the incidence of type 1 diabetes of children in Beijing area between 1997 and 2000, to compare and analyze the difference in incidence of type 1 diabetes between the 2 periods of 1988 - 1996 and 1997 - 2000.</p><p><b>METHOD</b>According to the criteria of WHO Diabetes Mondial (DIAMOND), data were collected from all the children younger than 15 years of age in Beijing area who had the onset of type 1 diabetes during Jan. 1st, 1997 to Dec. 31st, 2000. Using the capture-recapture methods, 95% confidence intervals of incidence were calculated with Poisson's distribution formula. The significance of differences was tested with Chi-square method.</p><p><b>RESULTS</b>The incidences of type 1 diabetes during 1997 - 2000 were around 0.76/100 000 to 1.21/100 000. The average yearly incidence was 1.014/100 000 (95% confidence interval was 0.98/100 000 - 1.16/100 000). There was no significant difference in the incidence between 1988 - 1996 and 1997 - 2000, and it showed the same result when the incidences were adjusted by age according to the Chinese population census in 2000 (The incidence was 0.83/100 000 in 1988 - 1996 and 0.86/100 000 in 1997 - 2000, respectively). The incidence was higher in 10 - 14 year-old group than the younger groups (P = 0.002). There was no significant difference between male and female groups, either.</p><p><b>CONCLUSIONS</b>No significant difference was found between the periods 1988 - 1996 and 1997 - 2000 when the average yearly incidence of type 1 diabetes of children in Beijing was compared. These results were different from the other countries' reports that the incidence of type 1 diabetes was increasing by 3% - 5% per annum. There was no significant difference between male and female groups either and there was a higher incidence of type 1 diabetes in 10 - 14 yr group than the other groups in 1997 - 2000. Although the life-style of Beijing people changed a lot, it didn't affect the incidence of type 1 diabetes in children in this area. But since many people migrated to Beijing from other parts of the country, the changes in constitutive proportions of population might have some impacts on the results of the survey.</p>

Association of human leukocyte antigen non-classical genes with type 1 diabetes / 中华儿科杂志

<p><b>OBJECTIVE</b>HLA-DMA and DMB are non-classical genes whose product (DM molecules) plays an important role in antigen presentation. Our present study was designed to investigate the relationship between human leukocyte antigen-DMA, -DMB and clinical status heterogeneity of type 1 diabetes.</p><p><b>METHODS</b>A total of 80 children (male 36, female 44) with type 1 diabetes were selected as research subjects. Diagnosis of type 1 diabetes was made according to WHO criteria. The range of age at onset of type 1 diabetes was 2.5 - 14 years. Ninety-one healthy adult blood donors were selected as normal controls. Polymerase chain reaction and dot blot hybridization techniques were used to classify DMA and DMB alleles. Patients with type 1 diabetes were classified into different groups according to different clinical status, including sex, age of onset, ketosis onset situation on diagnosis, remained function of islet beta cell, etc. Then distribution of DM susceptive alleles and heterodimer in different clinical groups were studied.</p><p><b>RESULTS</b>The frequencies of DMA * 0103 and DMB * 0103 alleles in patients were significantly increased (50% vs. 8%, 43% vs. 22%, respectively), these two alleles confer susceptibility to type 1 diabetes in Chinese. The frequencies of DMA * 0103/DMB * 0102, DMA * 0103/DMB * 0103 and DMA * 0103/DMB * 0101 heterodimers were also increased in the patients. The above heterodimers confer predisposition to type 1 diabetes. Both DMB * 0103 allele and DM susceptive heterodimers are related to islet beta cell function on diagnosis. The patients with DMB * 0103 allele or DM susceptive heterodimers were significantly increased in the patients with lower C-peptide level on diagnosis (56% vs. 29%; 58% vs. 34% respectively). DM heterodimes were also related to onset age and ketosis-onset-situations of the patients. The patients carrying DM susceptive heterodimers had higher probability to suffer type 1 diabetes before 10 years of age and had the predisposition to ketosis or ketoacidosis on diagnosis.</p><p><b>CONCLUSION</b>HLA- class II non-classical alleles-DMA and DMB may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism.</p>