RESUMO
To assess the association between serum copper/zinc ratio (CZR) and overweight/obesity in children. Sociodemographic and clinical data of children aged 8-18 years old were extracted from the National Health and Nutrition Examination Survey (NHANES) database in this cross-sectional study. These associations were explored using weighted univariate and multivariate logistic regression analyses with the odds ratios (ORs) and 95% confidence intervals (CIs). High serum CZR level was related to higher odds of overweight (OR = 1.74), obesity (OR = 5.26), and central obesity (OR = 2.99). Subgroup analyses showed that high serum CZR levels were associated with high odds of overweight in children aged ≥ 12 years old (OR = 2.19) and females (OR = 2.02), while the increased odds of obesity and central obesity were found in children aged ≥ 12 years old and both male and female. Elevated serum CZR level was linked to high odds of childhood overweight, obesity, and central obesity, and this relationship was also found in children with different age and gender.
Assuntos
Sobrepeso , Obesidade Infantil , Humanos , Masculino , Criança , Feminino , Adolescente , Obesidade Infantil/epidemiologia , Cobre , Inquéritos Nutricionais , Estudos Transversais , Zinco , Obesidade Abdominal , Índice de Massa CorporalRESUMO
OBJECTIVE: Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease. METHODS: Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed. RESULTS: The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children. CONCLUSION: Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.
Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Nanismo , Deficiência Intelectual , Microcefalia , Criança , Nanismo/genética , Humanos , Deficiência Intelectual/genética , Masculino , Microcefalia/genética , Irmãos , Sequenciamento do ExomaRESUMO
OBJECTIVE: To explore the genetic basis for a child with neonatal severe hyperparathyroidism. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic. CONCLUSION: The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.