Long-term exposure to fine particulate matter components with obesity in children and adolescents in China: The age-sex disparities and key effect modifiers.

Long-term fine particulate matter (PM) exposure was associated with childhood obesity. However, the key PM components and whether PM effect may vary by obesity type, growth stage, sex, and individual/family characteristics have yet been examined. In this study, we investigated 213,907 Chinese children and adolescents aged 3-18 years in 2017-2019.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in (). MAP4K4 has been implicated in many signaling pathways including c-Jun N-terminal and RAS kinases and is currently under investigation as a druggable target for multiple disorders. Using several zebrafish models, we demonstrate that these human variants are either loss-of-function or dominant-negative alleles and show that decreasing Map4k4 activity causes developmental defects.

Current Pubertal Development in Chinese Children and the Impact of Overnutrition, Lifestyle, and Perinatal Factors.

Context: Age of pubertal onset has been decreasing in many countries but there have been no data on pubertal development in Chinese children over the last decade.

Objective: The primary objective of the study was to evaluate the current status of sexual maturation in Chinese children and adolescents. Secondary objectives were to examine socioeconomic, lifestyle, and auxological associations with pubertal onset.

Construction of a new complete growth reference for urban Chinese children.

Background: Growth chart is a valuable clinical tool to monitor the growth and nutritional status of children. A growth chart widely used in China is based on the merged data sets of national surveys in 2005. We aimed to establish an up-to-date, complete growth curve for urban Chinese children and adolescents with a full range of ages.

Risk factors for obesity and overweight in Chinese children: a nationwide survey.

Objective: This study aimed to analyze a comprehensive set of potential risk factors for obesity and overweight among Chinese children with a full range of ages and with wide geographical coverage.

Methods: In the Prevalence and Risk Factors for Obesity and Diabetes in Youth (PRODY) study (2017-2019), the authors analyzed 193,997 children aged 3 to 18 years from 11 provinces, autonomous regions, and municipalities that are geographically representative of China. All participants underwent physical examinations, and their caregivers completed questionnaires including dietary, lifestyle, familial, and perinatal information of participants.

[Relationship between body mass index and sexual development in Chinese children].

To investigate the relationship between body mass index (BMI) and sexual development in Chinese children. A nationwide multicenter and population-based large cross-sectional study was conducted in 13 provinces, autonomous regions and municipalities of China from January 2017 to December 2018. Data on sex, age, height, weight were collected, BMI was calculated and sexual characteristics were analyzed.

Prevalence of diabetes mellitus among Uygur children in Hotan Prefecture of Xinjiang, China.

Objectives: To investigate the prevalence of diabetes mellitus (DM) among Uygur children in Hotan Prefecture of Xinjiang, China, as well as the factors influencing the development of DM.

Methods: The cluster random sampling method was used to select 5 308 children, aged 4-18 years, from the middle and primary schools and kindergartens in Hotan Prefecture of Xinjiang. The survey methods included questionnaire survey and the measurement of height and weight.

[Survey of height and weight of children and adolescents at different Tanner stages in urban China].

To investigate the status of height and weight of 3-18-year-old children and adolescents in urban China, and to provide a basis for establishing puberty phase specific curves for age-specific height and age-specific weight. A cross-sectional survey of 218 185 children and adolescents aged 3-18 years in urban China was conducted by using the method of stratified random cluster sampling from January 2017 to December 2019. The sampling areas included 12 provinces municipalities in China and autonomous regions in total.

Regional Disparities in Obesity Among a Heterogeneous Population of Chinese Children and Adolescents.

Importance: Obesity is a public health challenge in China, but the geographical profiles of overweight and obesity among Chinese children are limited.

Objective: To examine regional disparities in the prevalence of obesity among the heterogeneous population of Chinese children and adolescents to provide a more accurate profile of obesity among children in China.

Design, Setting, And Participants: The Prevalence and Risk Factors for Obesity and Diabetes in Youth (PRODY) study was a cross-sectional survey study conducted from January 1, 2017, to December 31, 2019, among 201 098 children aged 3 to 18 years from 11 provinces, autonomous regions, and municipalities that produced a sample of Chinese children with a full range of ages and wide geographical coverage using a multistage, stratified, cluster-sampling design.

A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children.

Purpose: To investigate the features and treatment status of children with type 1 diabetes mellitus (T1DM) in China.

Methods: We recruited patients <14 years of age with T1DM from 33 medical centers in 25 major cities of China between January 2012 and March 2015. All patients completed a questionnaire that was conducted by their pediatric endocrinologists at all centers.

Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children.

Aims: Findings from previous studies about the association of preterm birth as well as birth weight with the risk of T1DM were still inconsistent. We aimed to further clarify these associations based on Chinese children and explore the role of gender therein.

Methods: A nationwide multicenter and population-based large cross-sectional study was conducted in China from 2017 to 2019.

A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

Context: Aggrecan, encoded by the 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.

CNV profiles of Chinese pediatric patients with developmental disorders.

Purpose: To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders.

Methods: De-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for re-evaluating the pathogenic CNV (pCNV) yields of different medical conditions and for comparing the frequency and phenotypic variability of genomic disorders between the Chinese and Western patient populations.

Results: The overall yield of pCNVs in the Chinese pediatric patient cohort was 21.

[Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].

To explore the genotypes and phenotypes of osteogenesis imperfecta (OI) in Xinjiang Uygur children. The history of nine Uygur children with OI who were hospitalized in First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2017 were retrospectively reviewed. They were classified into 4 types according to the classical Sillence classification.

A Novel Homozygous Truncating Mutation in Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome.

Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe renal symptoms had be associated with truncating mutations. Few Chinese patients from diverse ethnic background had been evaluated and reported with this syndrome.

Novel Compound Heterozygous Variants in the Gene in a Genetically Male Patient with Female External Genitalia.

The gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and in fertility via its interaction with luteinizing hormone and chorionic gonadotropin. Inactive variants of the gene cause Leydig cell hypoplasia (LCH), which is a rare disease and one of the causes of disorder of sexual differentiation (DSD) in males. The aim of this work was to clarify the clinical and molecular characteristics of a 2.

[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].

Objective: To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China.

Methods: A total of 20 Uygur children with 21-OHD who visited the hospital between October 2013 and October 2014 were enrolled. Full-length direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutations of CYP21A2 gene, which encoded 21-hydroxylase.

[Risk factors for type 1 diabetes among Uyghur children in Xinjiang, China].

Objective: To investigate the risk factors for type 1 diabetes among Uygur children in Xinjiang, China, in order to provide a basis for the prevention of this disease among Uygur children in Xinjiang.

Methods: The clinical data of 94 Uygur children with type 1 diabetes (case group) and 96 Uygur children without diabetes (control group) between January, 2003 and December, 2013, were retrospectively analyzed. The risk factors for type 1 diabetes among Uyghur children in Xinjiang were explored using univariate and multivariate analyses.

[Childhood benign acanthosis nigricans and metabolic abnormality].

Objective: To observe the relationship of childhood benign acanthosis nigricans to anthropometric and metabolic indexes, with the aim of studying the association between childhood benign acanthosis nigricans and metabolic diseases.

Methods: A retrospective analysis was performed on the clinical data of 29 children who presented with benign acanthosis nigricans between February 2007 and October 2011. Thirty-two age, sex- and ethnic-matched normal children were selected as control group.

Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.

Glycogen-storage disease type II (GSDII) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA). The residual GAA activity is largely related to the severity of the clinical course. Most patients with infantile-onset GSDII do not show any enzyme activity, whereas patients with the late-onset forms of GSDII show various degrees of GAA activity.