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Clinical data of a child with acromesomelic dysplasia Maroteaux type (AMDM) treated in the Department of Pediatrics, Tianjin Medical University General Hospital at November 2018 was retrospectively analyzed.The female child aged 3 years and 3 months old with 83 cm height (-3.84 SD) had clinical manifestations of disproportionate short stature, disproportionate shortening of forearms and forelegs, and stubby fingers and toes.Gene sequencing identified compound heterozygous mutations, c.1640T>A(p.Val547Asp)/c.682G>A(p.Gly228Ser), in the NPR2 gene, which have not been reported in the Human Gene Mutation Database.Their protein function was predicted harmful.The child was diagnosed as AMDM.During the follow-up until 4 years and 8 months old, the child was 90 cm tall (-4.35 SD), with a growth velocity of 4.9 cm/year.She was treated with recombinant human growth hormone (rhGH) treatment for 9 months and regularly followed up.The child was now 98.2 cm height (-3.07 SD) and she had a growth velocity of 10.9 cm/year.This case report enriched the gene mutation spectrum of AMDM.Treatment with rhGH can effectively improve the height of the child, but the long-term effect needs further follow-up and observation.
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Objective To investigate the characteristics of plasma glucose, insulin secretion and changes of insulin resistance (IR) after a glucose load in obese children, and to predict islet β-cell function. Methods A total of 635 obese children were classified into normal glucose tolerance (NGT) group (n=483), impaired glucose regulation (IGR) group (n=112) and type 2 diabetes mellitus (DM) group (n=40) based on their glucose levels. Subjects were also divided into G1 group (23 kg/m2≤BMI<30 kg/m2, n=393) and G2 group (BMI≥30 kg/m2, n=242) based on their different BMI levels. Level of fast plasma glucose (FPG, 0.5 h-PG, 1 h-PG, 2 h-PG and 3 h-PG) and insulin (FINS, 0.5 h-INS, 1 h-INS, 2 h-INS and 3 h-INS) were measured 0 h, 0.5 h, 1 h, 2 h and 3 h after a glucose load. Insulin resistance index (HOMA-IR), whole body insulin sensitivity index (WBISI), function of pancreatic beta-cell (HOMA-β), first-phase insulin secretion index (ΔI30/ΔG30) and area under curve of insulin (AUCI) were calculated and compared between groups. Results The value of insulin at each time point was significantly higher in IGR group than that of NGT group. The values of insulin at 0.5 h, 1 h, and 2 h were significantly lower in DM group than those of IGR group, respectively (all P<0.05). Compared with NGT group, AUCI, HOMA-IR and HOMA-β increased, but WBISI and ΔI30/ΔG30 decreased in IGR group (all P<0.05). HOMA-IR increased but WBISI, HOMA-βandΔI30/ΔG30 decreased in DM group (all P<0.05). Compared with IGR group, AUCI, HOMA-βandΔI30/ΔG30 decreased in DM group (all P<0.05). Values of FINS, AUCI, HOMA-IR, 2h-PG and HOMA-βwere significantly higher in G2 group than those of G1 group, but WBISI decreased (all P<0.05). There were no significant differences in FPG and ΔI30/ΔG30 between these two groups. Conclusion From NGT, IGR to DM, the peak of insulin secretion is postponed, insulin resistance is getting heavier and the compensation of insulin secretion after a glucose load is increased first and then decreased.
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Objective To investigate the change of HO-1 expression in adipose tissue of obese young SD rats as well as its relationship with macrophage infiltration and polarization. Methods Three-week old SD rats (n=24) were randomly divided into 2 groups, routine diet group (NC) and high fat diet group (FC). After feeding 4 weeks, triglyceride (TG), high den?sity lipoprotein (HDL-C), fasting glucose and insulin were compared between these two groups and the insulin resistance in?dex was calculated. The gene expressions of HO-1, IL-6, IL-10 and MCP-1 were assessed by quantitative PCR. Infiltration and polarization of macrophages and M2 macrophages in the visceral adipose tissue were examined by immunohistochemis?try. Results The levels of FINS, FBG and HOMA-IR in rats of FC group were higher than those of rats in NC group after 4 weeks feeding (P0.05) in MOD value of F4/80 and CD206 between these two groups (P>0.05). Conclusion The infiltration of macrophage in visceral adipose tissue of obese young SD rats significantly increased while HO-1 expression was reactively increased. This insinuated that HO-1 might play an important role in anti-inflammatory mechanism through regulating polar?ization of macrophages.
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The onset of irreversibility of cardiovascular diseases caused by obesity has showed a rising trend,the underlying cause of the disease is the endothelial damage.Injury caused by obesity through four aspects:systolic and diastolic imbalance,anticoagulant and procoagulant imbalance,growth factors and growth factor imbalances and endothelial progenitor cell changes in endothelial damage.This paper reviews the reason and the mechanism of the endothelial damage through the change of the endothelial factors and progenitor cells.
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Objective To study the relationship between the level of serum epithelial fatty acid binding protein (E-FABP) and cardiovascular disease in obese children. Methods Thirty children with metabolic syndrome (MS), 32 obesity children with no MS and 50 healthy children were recruited. Serum E-FABP and glucose/lipid metabolic indices were measured. Results Com-pared with the healthy children, levels of serum E-FABP in MS children were signiifcantly elevated (P=0.001). Compared with obesity children, levels of serum E-FABP of MS children were elevated, but the difference was not signiifcant (P>0.05). The cor-relations of E-FABP with waist to hip ratio, waist-to-height ratio, atherogenic index, fasting insulin, insulin resistance index were positive (P<0.05). According to the multivariate stepwise regression analysis, E-FABP was the independent risk of atherogenic index (P=0.018). Conclusions E-FABP plays a role in the development of atherosclerosis in obesity and MS.
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The validity of the recently recommended HbA1C criterion by the American Diabetes Association (ADA) in identification of dysglycemia in children with obesity was evaluated. 293 obese children underwent oral glucose tolerance test. Receiver operating characteristic ( ROC ) curve analysis was used to examine the sensitivity and specificity of fasting plasma glucose (FPG) and HbA1C in identifying dysglycemia. The results showed that the prevalence of type 2 diabetes mellitus (T2DM) was 3.8％ and prediabetes 16. 0％ based on plasma glucose standard. 4. 1％ and 25.6％ were categorized as T2DM and “at high risk of diabetes mellitus” based on both HbA1C and plasma glucose criteria. HbA1C was more efficacious than FPG in detecting abnormal glucose tolerance as shown by the areas under the curve in ROC of 0. 875 and 0. 713 respectively (P＜0. 01 ). The sensitivity and specificity were 60. 5％ and 86. 8％ at HbA1C ≥5.7％, and 30. 5％ and 94.0％ at FPG ≥ 5.6 mmol/L.
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Objective To investigate effects of high fat-salt diet on change of growth and development,body fat distribution insulin sensitivity and associated metabolic indexes for juvenile rats. Methods 50 grams of male,female SD juvenile rats (3 weeks,just weaned) were randomly divided into 3 groups,12-14 animals in each group,were given routine diet (NC) and high fat diet (FC) and high fat-salt diet (FSC) .Then the body weight,,body length,abdominal circumference,blood pressure,visceral fat weight,plasma lipids were measured 4 weeks later,at the same time oral glucose tolerance test and insulin release test were performed. Results In the FSC group,body weight,abdominal circumference,blood pressure,visceral fat,plasma glucose and insulin level significantly increased than the NC group,plasma lipid disorders increased and significant insulin resistance occurred. Conclusion High fat and high salt could successfully induced obesity,hypertension,dyslipidemia and impaired glucose tolerance.