Context Aggrecan, encoded by ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated. Objective We sought to determine the prevalence of ACAN pathogenic variants among Chinese short stature children and characterize the phenotypic spectrum and their responses to growth hormone (GH) therapies. Patients and Methods Over 1000 unrelated short stature patients ascertained across China were genetically evaluated by Next-generation sequencing (NGS)-based test. Result We identified 10 novel likely pathogenic variants and 2 recurrent pathogenic variants in this cohort. None of ACAN mutation carriers exhibited significant dysmorphic features or skeletal abnormities. The prevalence of ACAN defect is estimated to be 1.2% in the whole cohort, it increased to 14.3% among those with advanced bone age and to 35.7% among those with both advanced bone age and family history of short stature. Nonetheless, five out of eleven ACAN mutation carries had no advanced bone age. Two individuals received growth hormone therapy with variable levels of height SDS improvement. Conclusion Our data suggested that ACAN mutation is one of the common causes of Chinese pediatric short stature. Although it has a higher detection rate among short stature patients with advanced bone age and family history, part of affected probands presented with delayed bone age in Chinese short stature population. The growth hormone treatment was moderately effective for both individuals.

Aim: The average mercury load in children under 7-years old was determined in a populated but not overly industrial coastal area in China. Methods: 395 blood samples, 1072 urine samples, and 581 hair samples were collected from 1076 children, aged 0 to 6 years, from eight representative communities of Xiamen, China. Mercury levels in the samples were surveyed. Results: The 95% upper limits of mercury in blood, urine, and hair for the children were 2.30, 1.50 and 2100.00 μg/kg, respectively. Levels tended to increase with age. Correlation analyses showed that mercury levels in blood and urine correlated with those in hair (n = 132), r = 0.49, p < 0.0001 and r = 0.20, p = 0.0008; however, blood mercury levels did not correlate with urine levels (n = 284), r = 0.07, p = 0.35. Conclusions: Surveying the average mercury load in children 0 to 6 years, and the 95% upper limit value of mercury in their blood, urine, and hair should help guide risk assessment and health management for children.

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Abstract:The purpose of this study was to examine secular changes in growth and nutritional outcomes of Chinese urban children under five years old, in 2009, 2012, and 2015. Cluster random sampling methods were used to select children under five years old in Xiamen, one of five special economic zones in China. Subjects (N = 71,229) under five years old (39,413 boys, 31,816 girls) were examined at three different times (22,576 in 2009, 24,816 in 2012, and 23,837 in 2015). Significant differences in the boys' height and weight (p < 0.05) were found across the three time points; subjects in the 2015 sample were the heaviest and tallest, and they had the highest BMI (2009 < 2015; 2012 < 2015). Among the girls, those in the 2015 sample were similar to the boys (2009 < 2012; 2012 < 2015). In general, similar patterns were observed when mean values were analyzed by age. An increasing trend was found in the prevalence of overweight and obesity and a decreasing trend for stunting, underweight, and wasting. The results revealed that the burden of childhood underand over-nutrition might constitute a public health concern in modern China.

<b><i>Background:</i></b> Childhood overweight and obesity have become some of the most serious public health problems in the 21st century and have a significant impact on affected children as they grow into adulthood. <b><i>Objective:</i></b> The purpose of this study was to evaluate the overweight and obesity status and their main influencing factors in preschool children aged 2–7 years in urban areas of China between 2011 and 2017. <b><i>Methods:</i></b> A stratified cluster random sampling method was used to conduct a sample survey of children aged 2–7 years in Xiamen, one of China’s five special economic zones. The 56,738 participants (29,444 boys, 27,294 girls) were examined at three time points (15,757 in 2011, 19,098 in 2014, and 21,883 in 2017), and were analyzed for factors influencing obesity. <b><i>Results:</i></b> Between 2011 and 2017, the prevalence of overweight and obesity in preschool children between 2 and 7 years old was 10.91 and 5.66%, respectively. The overweight and obesity rates were higher in boys (11.85 and 7.11%) than in girls (9.90 and 4.09%), and the difference was statistically significant (<i>p</i> &#x3c; 0.01). In the past 7 years, the overweight and obesity rates showed a downward trend in both boys and girls (<i>p</i> &#x3c; 0.01). The peak ages for overweight were 6 years in boys and 2 years in girls, while the obesity rate peaked at 6 years. In those children with obesity, the proportion of those with moderate to severe obesity decreased from 40.70% in 2011 to 32.80% in 2017. Multiple stepwise regression analysis showed that children who were averse to sports activities preferred greasy foods and had earlier introduction of solid foods as infants, as well as those who were born at a high birth weight, ate fast, and those with parents with obesity were more likely to have obesity themselves (<i>p</i> &#x3c; 0.05). <b><i>Conclusions:</i></b> Although preventative and control measures for childhood obesity have achieved initial results, Chinese preschool children remain to have high levels of overweight and obesity. It is therefore necessary to strengthen monitoring of overweight and obesity in preschool-aged children and implement appropriate interventions when necessary.