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1.
Zhonghua Er Ke Za Zhi ; 59(12): 1065-1073, 2021 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-34839591

RESUMO

Objective: 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. Methods: 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. Data were collected on weight, height, waist circumference, hip circumference and secondary sexual characteristics. The generalized additive model for location, scale, and shape (GAMLSS) was employed to establish percentile reference values and growth curves of height and weight for boys and girls aged 3-18 years. Wilcoxon rank sum test was applied to compare the P50 value of height and weight between children of each Tanner stage and children of the same age ignoring the different puberty phase. Results: The 3rd, 50th, and 97th percentile curves for height and weight for age were developed for boys and girls aged 3-18 years. The 3rd, 50th, and 97th percentile curves for age-specific height and age-specific weight for each puberty phase were developed for boys and girls. Compared with all children ignoring the different puberty phase, boys aged 9 and over and girls aged 7 and over who are at Tanner stage 1 showed shorter height and lighter weight than those of the same age group (all P<0.01), the difference ranges of height at P50 are -4.0 to -0.6 cm for boys, and -4.4 to 0.5 cm for girls; the difference ranges of weight are -4.8 to 0.4 kg for boys, and -4.0 to -0.3 kg for girls; children at Tanner stage 2 & 3 initially were taller and heavier than those of the same age group; and later grew shorter and lighter than those of the same age group, the two sets of curves cross over; boys aged 16 and under and girl aged under 14 who are at Tanner stage 4 were taller and heavier than those of the same age group (all P<0.01), the difference ranges of height at P50 are 0.2 to 10.0 cm for boys, and 0.2 to 9.4 cm for girls; the difference ranges of weight at P50 are 0.7 to 10.9 kg for boys, and 1.0 to 11.2 kg for girls, and the differences showed narrowing trend with age. Conclusion: The puberty phase specific growth curves of age-specific height and age-specific weight for boys and girls aged 3-18 years are established, it is useful for clinical work to evaluate physical development of children at different puberty phases.

2.
JAMA Netw Open ; 4(10): e2131040, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34698846

RESUMO

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. Exposures: Five regions geographically representative of China (northern, eastern, southern, western, and central). Main Outcomes and Measures: The body weights and heights of all participants were measured. Multilevel, multinomial logistic regression models were used to estimate the prevalence of overweight and obesity. Results: Among 201 098 healthy children (105 875 boys [52.6%]; mean [SD] age, 9.8 [3.8] years) from eastern, southern, northern, central, and western China, the highest obesity prevalence was estimated for children aged 8 to 13 years in northern China (from 18.8% [95% CI, 16.2%-21.7%] to 23.6% [95% CI, 20.5%-26.9%]) and for boys aged 3 to 6 years in western China (from 18.1% [95% CI, 10.4%-29.4%] to 28.6% [95% CI, 14.3%-49.0%]). Boys had a higher prevalence than girls of obesity only in eastern and northern China, with a mean difference in prevalence of 4.6% (95% CI, 3.8%-5.4%) and 7.6% (95% CI, 6.5%-8.6%), respectively. Conclusions and Relevance: In this survey study, substantial geographic disparities in the prevalence of obesity and overweight were found among the heterogeneous population of Chinese children. The results suggest that special attention should be paid to vulnerable children and that regionally adapted interventions are needed to efficiently mitigate obesity in children.

3.
Front Endocrinol (Lausanne) ; 12: 583114, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34211433

RESUMO

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. Results: A total of 1,603 children (755 males and 848 females) with T1DM participated in this survey. Of these, 834 (52.03%) of the patients exhibited diabetic ketoacidosis (DKA) at onset, while 769 patients (47.97%) did not exhibit DKA (non-DKA) at onset. There was a higher proportion of females (55.71%) in the cohort of patients exhibiting DKA at onset than in the non-DKA cohort (49.33%). The mean age of patients exhibiting DKA at presentation was 7.12 ± 0.14 years; this was significantly younger than that in non-DKA group (7.79 ± 0.15 years; P < 0.005). The frequency of DKA in 3 years old, 3-7 years old, and 7 years old or more was 77.21%, 26.17%, and 37.62%, respectively. Upon initial diagnosis, 29.4%, 15.2% and 11.8% of patients showed positivity for glutamic acid decarboxylase antibody (GADA), Insulin autoantibodies (IAA), or islet cell antibody (ICA), respectively. During six months follow-up, 244 patients (15.21%) reported receiving insulin pump therapy, and more than 60% of patients monitored their blood glucose levels less than 35 times per week. Although the majority of patients had no problems with obtaining insulin, 4.74% of the children surveyed were not able to receive insulin due to financial reasons, a shortage of insulin preparations, or the failure of the parents or guardians to acquire the appropriate medicine. Conclusion: DKA is more common in very young children. Treatment and follow-up of T1DM in China still face very serious challenges.

4.
Front Med (Lausanne) ; 6: 12, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30778388

RESUMO

Objective: 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. Here we report the first Uyghur patient with typical Pierson syndrome phenotypes and a novel pathogenic homozygous variant in LAMB2 gene. Method: A thirty-nine-day old Uyghur girl was born to consanguineous parents, the girl presented with general edema, severe hypotonia and bilateral microcoria. Laboratory tests revealed severe proteinuria, microscopic haematuria, hypoalbuminaemia. By the age of 74 days, she died of renal failure and respiratory infection. We detected on mutations of LAMB2 gene by the sanger sequencing. Result:Sanger sequencing detected a homozygous 2-bp deletion (c.2044_2045insTT/p.Cys682Phefs*13) in the exon 16 of LAMB2 gene. Both parents are heterozygous carriers. Conclusion: We reported the first Uyghur case of LAMB2 gene homozygous mutation leading to severe phenotype Pierson syndrome. The clinical presentation of the patient and the novel pathogenic variant detected in this patient added to the overall knowledge of this rare condition.

5.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(2): 141-6, 2016 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-26903061

RESUMO

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. According to the type of mutation, the patients with 21-OHD were divided into different groups to analyze the consistency between predicted clinical phenotypes and actual clinical phenotypes. RESULTS: A total of 9 mutation types were found in the 20 patients, and 8 of them were identified as pathogenic mutations, i.e., Del, conv, I2g, I172N, Cluster E6, 8-bp del, V281L, and R356W. The other mutation is the new mutation occurring in intron 5 (c.648+37A>G), which had not been reported, and its pathological significance remains unknown. Most clinical phenotypes predicted by mutation types had a higher coincidence rate with actual clinical phenotypes (above 67%), and the clinical phenotypes predicted by P30L and V281L had a lower coincidence rate with actual clinical phenotypes (below 33%). CONCLUSIONS: The genotype of 21-OHD has a good correlation with phenotype, and the clinical phenotype can be predicted by detecting the patient′s genotype. The new mutation (c.648+37A>G) may be related to the pathogenesis of 21-OHD.


Assuntos
Hiperplasia Suprarrenal Congênita/enzimologia , Esteroide 21-Hidroxilase/genética , Adolescente , Hiperplasia Suprarrenal Congênita/etnologia , Hiperplasia Suprarrenal Congênita/genética , Criança , China/etnologia , Feminino , Genótipo , Humanos , Masculino , Mutação , Fenótipo
6.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(3): 266-9, 2015 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-25815498

RESUMO

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. RESULTS: According to the result of univariate analysis, there were significant differences in age, prodromal infection, residence, feeding method, time for intake of starchy foods, time for intake of high-fat foods, family history, islet-cell antibodies (ICA), insulin autoantibodies (IAA), and glutamic acid decarboxylase antibodies between the case and the control groups (P<0.05). According to the result of multivariate logistic analysis, older age, early intake of starchy foods, early intake of high-fat foods, prodromal infection, positive ICA, and positive IAA were major risk factors for type 1 diabetes, and breastfeeding was a protective factor. CONCLUSIONS: Type 1 diabetes among Uyghur children in Xinjiang is caused by multiple factors. Prevention and reduction of prodromal infection, reasonable diet, and promotion of breastfeeding can reduce the risk of disease.


Assuntos
Diabetes Mellitus Tipo 1/etiologia , Adolescente , Aleitamento Materno , Criança , Pré-Escolar , China/etnologia , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Estudos Retrospectivos , Fatores de Risco
7.
Zhongguo Dang Dai Er Ke Za Zhi ; 14(8): 604-6, 2012 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-22898282

RESUMO

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. The two groups were compared according to obesity (body mass index, waist-to-hip ratio, body fat content and body fat percentage) and metabolic indexes (blood glucose, insulin level and blood lipids). RESULTS: Body mass index, body fat content, body fat percentage, waist-to-hip ratio, fasting blood glucose, insulin level and triglyceride in the 29 patients with benign acanthosis nigricans were higher than in the control group (P<0.05), but the level of high-density lipoprotein in the 29 patients was lower than in the control group (P<0.05). Of the 29 patients, 16 had impaired glucose tolerance and 3 were diagnosed with diabetes (1 case with type 1, two cases with type 2). CONCLUSIONS: Childhood benign acanthosis nigricans is closely associated with obesity, insulin resistance and dyslipidemia.


Assuntos
Acantose Nigricans/complicações , Doenças Metabólicas/etiologia , Adolescente , Criança , Pré-Escolar , Dislipidemias/etiologia , Feminino , Humanos , Resistência à Insulina , Masculino , Obesidade/etiologia , Estudos Retrospectivos
8.
J Hum Genet ; 54(8): 493-6, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19609281

RESUMO

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. We performed a molecular genetic study on a Japanese boy with childhood-onset GSDII. The patient was a compound heterozygote for a newly discovered splice-site c.546G>T mutation and a recurrent missense p.R600C mutation, which usually causes the fatal infantile form in a homozygous state. The c.546G>T mutation, which did not alter the amino-acid sequence, was positioned at the last base of exon 2. cDNA-sequencing analysis revealed that c.546G>T was a leaky splice mutation, leading to the production of a normally spliced transcript, which was responsible for the low-level (approximately 10%) expression of the active enzyme in the patient's fibroblasts.


Assuntos
Éxons/genética , Doença de Depósito de Glicogênio Tipo II/genética , Mutação de Sentido Incorreto/genética , Splicing de RNA/genética , alfa-Glucosidases/genética , Idade de Início , Criança , Primers do DNA/química , Primers do DNA/genética , Fibroblastos/enzimologia , Doença de Depósito de Glicogênio Tipo II/enzimologia , Doença de Depósito de Glicogênio Tipo II/patologia , Humanos , Japão , Masculino
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