Objective To explore the incidence rate and related factors of dyslipidemia in children with simple obesity and overweight. Methods From October 2018 to December 2023, 254 children with simple obesity and overweight who received physical examination in the pediatric outpatient department of Beijing Jishuitan Hospital were selected as the observation group, and 46 healthy children during the same period were included in the control group. According to whether dyslipidemia occurred, children with simple obesity and overweight were classified into the dyslipidemia group (n=97) and the normal blood lipid group (n=157). Logistic regression analysis was used to analyze the related factors affecting dyslipidemia in children with simple obesity and overweight. Results The concentrations of total cholesterol (TC) and triglyceride (TG) of children in the observation group were significantly higher than those in the control group (P<0.05), while the level of high-density lipoprotein cholesterol (HDL-C) showed the opposite trend and was significantly lower than that in the control group (P<0.05). After logistic regression analysis, it was found that body mass index (BMI), fasting insulin level, alanine aminotransferase (ALT) activity, uric acid level, and daily sedentary time were related factors influencing dyslipidemia in children with simple obesity and overweight (P<0.05). Conclusion The incidence rate of dyslipidemia is high in children with simple obesity and overweight. BMI, fasting insulin level, ALT, uric acid level, and daily sedentary time are related factors of dyslipidemia in children with simple obesity and overweight.

Objective To investigate the influencing factors of bone mineral density(BMD)in school-stage children with different degrees of obesity and their relationship with body composition.Methods A total of 271 obese children aged 6-12 years who underwent pediatric health checkups in our hospital between October 2018 and December 2023 were selected.The children were divided into two groups according to their degree of obesity:a simple obesity group(n=171)and an extreme obesity group(n=100).All children were examined for metabolic indicators,body composition,BMD,and abdominal ultrasonography.Comparisons of various indicators between the two groups were made using the independent samplesttest,Mann-Whitney Utest,or chi-square test.The relationship between BMD and body composition was analyzed using multiple linear regression and Spearman correlation analyses.Results Compared with simple obesity group,the body weight,body mass index(BMI)z-score,body fat index,muscle mass index,fat-free body mass index,body fat percentage,waist-to-hip ratio,fasting insulin level,insulin resistance index,uric acid,and fatty liver incidence were significantly higher in extreme obesity group(all P<0.05).No statistically significant differences in height,BMD,BMD z-score,25-hydroxy-vitamin D,blood sugar,calcium,phosphorus,alkaline phosphatase,or rate of puberty development were observed between the two groups(all P>0.05).The results of the Spearman correlation analysis showed that the BMI z-score,body fat index,muscle mass index,and fat-free BMI were pos-itively correlated with the BMD z-scores of all participants and in girls(all P<0.05).In boys,the BMD z-score was positively correlated with muscle mass index and fat-free mass index(both P<0.05).The results of multiple linear regression analysis of BMD z-scores and body composition showed that in boys and the simple obesity group,body fat percentage and body fat index were independent influencing factors of BMD z-scores(both P<0.05).Conclusion Higher body fat percentage and body fat index may be adverse factors influencing BMD in school-stage children with obesity.Meanwhile,the BMD of school-age children with obesity increased with an increase in fat-free mass index.

Objective To investigate the influencing factors of bone mineral density(BMD)in school-stage children with different degrees of obesity and their relationship with body composition.Methods A total of 271 obese children aged 6-12 years who underwent pediatric health checkups in our hospital between October 2018 and December 2023 were selected.The children were divided into two groups according to their degree of obesity:a simple obesity group(n=171)and an extreme obesity group(n=100).All children were examined for metabolic indicators,body composition,BMD,and abdominal ultrasonography.Comparisons of various indicators between the two groups were made using the independent samplesttest,Mann-Whitney Utest,or chi-square test.The relationship between BMD and body composition was analyzed using multiple linear regression and Spearman correlation analyses.Results Compared with simple obesity group,the body weight,body mass index(BMI)z-score,body fat index,muscle mass index,fat-free body mass index,body fat percentage,waist-to-hip ratio,fasting insulin level,insulin resistance index,uric acid,and fatty liver incidence were significantly higher in extreme obesity group(all P<0.05).No statistically significant differences in height,BMD,BMD z-score,25-hydroxy-vitamin D,blood sugar,calcium,phosphorus,alkaline phosphatase,or rate of puberty development were observed between the two groups(all P>0.05).The results of the Spearman correlation analysis showed that the BMI z-score,body fat index,muscle mass index,and fat-free BMI were pos-itively correlated with the BMD z-scores of all participants and in girls(all P<0.05).In boys,the BMD z-score was positively correlated with muscle mass index and fat-free mass index(both P<0.05).The results of multiple linear regression analysis of BMD z-scores and body composition showed that in boys and the simple obesity group,body fat percentage and body fat index were independent influencing factors of BMD z-scores(both P<0.05).Conclusion Higher body fat percentage and body fat index may be adverse factors influencing BMD in school-stage children with obesity.Meanwhile,the BMD of school-age children with obesity increased with an increase in fat-free mass index.

Objective:To explore the interrelationship among three simplified hand and wrist bone age assessment methods and to establish corresponding bone ages for each substage in male children.Methods:This retrospective case series study included 169 left hand and wrist X-rays from 152 male children who underwent bone age assessments at the Pediatric Orthopedics and Pediatrics Departments,Beijing Jishuitan Hospital,Capital Medical University from January 2019 to December 2023. The age at the time of X-ray was (13.7±2.0) years (range:9.1 to 17.9 years). Reasons for bone age assessment included evaluating the progress of adolescent idiopathic scoliosis in 36 cases, predicting limb length discrepancies in 28 cases, and predicting the height of healthy adolescents in 88 cases. Bone age was first graded using the Chinese hand-wrist bone age assessment method. Three simplified hand and wrist bone age assessment methods were then applied:Sanders simplified skeletal maturity staging system(Sanders stage), the distal radius and ulna classification (DRU), and e thumb ossification composite index (TOCI). Somers′delta correlation test was used to analyze the relationship among the results of the three simplified methods. The bone age and standard deviation for each sub-stage were calculated, and gender differences in bone age for the same sub-stage were compared with previous study.Results:The DRU, TOCI and Sanders stages showed a strong correlation when assessing bone age in male children, with Somers′delta correlation coefficients ranging from 0.881 to 0.876 (all P<0.01). The sub-stages with the smallest standard deviations (shorter duration) in each of the three classifications can serve as a quick reference for determining precise bone age, included proximal thumb epiphysis covered, without sesamoid (12.0 years);proximal thumb epiphysis covered with sesamoid or distal radial covered (13.0 years), early capping of the thumb epiphysis, radial epiphysis medial side capping(13.5 years), all phalangeal epiphyses capping (14.0 years), distal phalangeal physes beginning to close (14.5 years), all distal phalangeal physes closed (15.0 years), middle or proximal phalangeal physes beginning to close (15.5 years), all digital epiphyses closed (16.5 years), and nearly complete distal radius fusion with a notch (17.5 years). On average, the bone ages of males were 2 years behind those of females in the same substage. Conclusions:The DRU, TOCI, and Sanders stages can be applied to male children, and it is showed good correlation between them. The subtypes with shorter duration can be used as a quick assessment method to determine the bone age.

Objective:To explore the interrelationship among three simplified hand and wrist bone age assessment methods and to establish corresponding bone ages for each substage in male children.Methods:This retrospective case series study included 169 left hand and wrist X-rays from 152 male children who underwent bone age assessments at the Pediatric Orthopedics and Pediatrics Departments,Beijing Jishuitan Hospital,Capital Medical University from January 2019 to December 2023. The age at the time of X-ray was (13.7±2.0) years (range:9.1 to 17.9 years). Reasons for bone age assessment included evaluating the progress of adolescent idiopathic scoliosis in 36 cases, predicting limb length discrepancies in 28 cases, and predicting the height of healthy adolescents in 88 cases. Bone age was first graded using the Chinese hand-wrist bone age assessment method. Three simplified hand and wrist bone age assessment methods were then applied:Sanders simplified skeletal maturity staging system(Sanders stage), the distal radius and ulna classification (DRU), and e thumb ossification composite index (TOCI). Somers′delta correlation test was used to analyze the relationship among the results of the three simplified methods. The bone age and standard deviation for each sub-stage were calculated, and gender differences in bone age for the same sub-stage were compared with previous study.Results:The DRU, TOCI and Sanders stages showed a strong correlation when assessing bone age in male children, with Somers′delta correlation coefficients ranging from 0.881 to 0.876 (all P<0.01). The sub-stages with the smallest standard deviations (shorter duration) in each of the three classifications can serve as a quick reference for determining precise bone age, included proximal thumb epiphysis covered, without sesamoid (12.0 years);proximal thumb epiphysis covered with sesamoid or distal radial covered (13.0 years), early capping of the thumb epiphysis, radial epiphysis medial side capping(13.5 years), all phalangeal epiphyses capping (14.0 years), distal phalangeal physes beginning to close (14.5 years), all distal phalangeal physes closed (15.0 years), middle or proximal phalangeal physes beginning to close (15.5 years), all digital epiphyses closed (16.5 years), and nearly complete distal radius fusion with a notch (17.5 years). On average, the bone ages of males were 2 years behind those of females in the same substage. Conclusions:The DRU, TOCI, and Sanders stages can be applied to male children, and it is showed good correlation between them. The subtypes with shorter duration can be used as a quick assessment method to determine the bone age.

OBJECTIVETo analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.

METHODSClinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. The exome of the proband was screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected mutations were subjected to bioinformatic and gene-disease correlation analysis.

RESULTSA c.653G>A (p.R218Q) mutation of the KCNJ2 gene was detected in both the proband and his father. Bioinformatics analysis suggested it to be pathogenic.

CONCLUSIONThe clinical manifestation of the pedigree was suggestive of Andersen-Tawil syndrome. KCNJ2 c.653G>A (p.R218Q) was the pathogenic mutation in this pedigree.

Objective To investigate insulin resistance and first-phase insulin secretion among the obese children with normal glucose tolerance,impaired glucose tolerance (IGT) and type 2 diabetes mellitus(T2DM) and to further explore their effects on children with T2DM.Methods Both physical examination and oral glucose tolerance test (OGTT) were performed to determine the glucose tolerance levels on a total of 87 subjects.They were divided into normal glucose tolerance group,IGT group and T2DM group according to their glucose tolerance levels.Insulin resistance and insulin secretion were represented by insulin sensitivity index (IAI) and △ I30/△ G30 =(I30min-I0min) /(G30 min-G0 min),respectively.SPSS software version 10.0 was used for statistical analysis.Differences from the groups were assessed by performing One-way ANOVA,and P ＜ 0.01 was considered significant.Results Among 87 subjects,52 cases turned out to have normal glucose tolerance (normal glucose tolerance group),16 cases were with IGT (IGT group) and 19 cases were with T2DM (T2DM group),respectively.The groups of normal glucose tolerance,IGT and T2DM were found to have the IAI values of-4.36 ±0.79,-4.80 ±0.56 and-4.73 ±0.53,respectively,which indicated that the IAI value of normal glucose tolerance group was significantly higher than those in both IGT and T2DMgroups(F =5.28,P ＜ 0.01),while there was no significant difference between the 2 groups of IGT and T2DM.The △I30/△G30 values of the obesity,IGT and T2DM groups were also indicated as 57.02-± 30.20,28.19 ± 23.47 and 11.65 ± 7.50,respectively,and therefore it could be revealed that the △ I30/△ G30 value of the IGT and T2DM groups were both significantly lower than that of the normal glucose tolerance group (F =47.90,P ＜ 0.01).Conclusions Both insulin sensitivity and first-phase insulin secretion respectively show statistically significant decrease in IGT andT2DM groups compared with those in obesity group,which indicates that they both may play important roles in diabetes onset in children.

OBJECTIVETo identify pathogenic mutation in a pedigree affected with craniofacial and skeletal abnormalities featuring an autosomal dominant inheritance.

METHODSClinical data and peripheral venous blood samples of the pedigree were collected. A total of 326 exons of skeletal disease-related genes were screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected variants were analyzed by bioinformatic software.

RESULTSA novel heterozygous mutation c.480C>A (p.160K>N) of HDAC4, the pathogenic gene for brachydactyly mental retardation syndrome, was found in the affected proband, his father and uncle. The proband and his father also carried a novel heterozygous c.880-882delAAG (p.294delK) mutation of TRPS1, the pathogenic gene for tricho-rhino-phalangeal syndrome. Bioinformatic analysis suggested that both mutations are pathogenic. In addition, three novel genetic variants, namely c.4817G>A (p.1606S>L) of MLL2, c.83A>G (p.28H>R) of TP63, and c.1712G>C (p.571T>S) of ERCC2, were also identified in this family.

CONCLUSIONThe HDAC4 c.480C>A (p.160K>N) mutation probably underlies the disease in this pedigree, while the TRPS1 c.880-882delAAG (p.294delK) mutation may be related with certain features of the affected family members. Genetic analysis has facilitated the diagnosis of this complex disease.

Asian Continental Ancestry Group ; genetics ; Craniofacial Abnormalities ; genetics ; Female ; Genetic Testing ; methods ; Heterozygote ; Humans ; Infant ; Male ; Mutation ; genetics ; Pedigree