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1.
Am J Med Genet A ; 182(9): 2102-2109, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32706523

RESUMO

To describe special facial features of children with Williams syndrome in China by using method of three-dimensional craniofacial anthropometry. Using three-dimensional stereo photogrammetric device, 14 craniofacial anthropometric measurements were performed and five indices were calculated in 52 children with Williams syndrome and 208 age and sex matched controls of Han Chinese ethnicity. Except intercanthal width, mouth breadth, morphological face height, nasal height-breadth index, nasal breadth-depth index, morphological ear index, the Williams syndrome group under 3 years old were smaller than the control group in the other 12 variables. Compared with the control group, the Williams syndrome group aged 3-5 years old had smaller biocular breadth, nasal length, nasorostral angle, bitragal breadth, ear width, morphological ear index and face depth. The Williams syndrome group aged above 6 years old had smaller biocular breadth, nasal breadth, bitragal breadth, ear width, ear length and face depth than the control group. The craniofacial variability index of the Williams syndrome group was greater than the control group. Greater variation was found among children with Williams syndrome than normal in China, specifically at eye, nose, ear and face shape, which demonstrate the usefulness of three-dimensional stereo photogrammetric analysis in supporting accurate diagnose of the patient with Williams syndrome.


Assuntos
Antropometria , Face/anormalidades , Crânio/anormalidades , Síndrome de Williams/genética , Povo Asiático/genética , Cefalometria , Criança , Pré-Escolar , China/epidemiologia , Orelha/anormalidades , Orelha/patologia , Face/patologia , Feminino , Humanos , Masculino , Nariz/anormalidades , Nariz/patologia , Crânio/patologia , Síndrome de Williams/patologia
2.
BMC Pregnancy Childbirth ; 16: 60, 2016 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-27000102

RESUMO

BACKGROUND: Dyslipidemia in pregnancy are associated with gestational diabetes mellitus (GDM), preeclampsia, preterm birth and other adverse outcomes, which has been extensively studied in western countries. However, similar studies have rarely been conducted in Asian countries. Our study was aimed at investigating the associations between maternal dyslipidemia and adverse pregnancy outcomes among Chinese population. METHODS: Data were derived from 934 pairs of non-diabetic mothers and neonates between 2010 and 2011. Serum blood samples were assayed for fasting total cholesterol (TC), triglycerides (TG), high-density lipoprotein-cholesterol (HDL-C), and low-density lipoprotein-cholesterol (LDL-C) concentrations during the first, second and third trimesters. The present study explored the associations between maternal lipid profile and pregnancy complications and perinatal outcomes. The pregnancy complications included GDM, preeclampsia and intrahepatic cholestasis of pregnancy (ICP); the perinatal outcomes included preterm birth, small/large for gestational age (SGA/LGA) infants and macrosomia. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated and adjusted via stepwise logistic regression analysis. Optimal cut-off points were determined by ROC curve analysis. RESULTS: After adjustments for confounders, every unit elevation in third-trimester TG concentration was associated with increased risk for GDM (OR = 1.37, 95% CI: 1.18-1.58), preeclampsia (OR = 1.50, 95% CI: 1.16-1.93), ICP (OR = 1.28, 95% CI: 1.09-1.51), LGA (OR = 1.13, 95% CI: 1.02-1.26), macrosomia (OR = 1.19, 95% CI: 1.02-1.39) and decreased risk for SGA (OR = 0.63, 95% CI: 0.40-0.99); every unit increase in HDL-C concentration was associated with decreased risk for GDM and macrosomia, especially during the second trimester (GDM: OR = 0.10, 95% CI: 0.03-0.31; macrosomia: OR = 0.25, 95% CI: 0.09-0.73). The optimal cut-off points for third-trimester TG predicting GDM, preeclampsia, ICP, LGA and SGA were separately ≥ 3.871, 3.528, 3.177, 3.534 and ≤ 2.530 mmol/L. The optimal cut-off points for third-trimester HDL-C identifying GDM, macrosomia and SGA were respectively ≤ 1.712, 1.817 and ≥ 2.238 mmol/L. CONCLUSIONS: Among Chinese population, maternal high TG in late pregnancy was independently associated with increased risk of GDM, preeclampsia, ICP, LGA, macrosomia and decreased risk of SGA. Relative low maternal HDL-C during pregnancy was significantly associated with increased risk of GDM and macrosomia; whereas relative high HDL-C was a protective factor for both of them.


Assuntos
Lipídeos/sangue , Complicações na Gravidez/sangue , Resultado da Gravidez , Trimestres da Gravidez/sangue , Adulto , Peso ao Nascer , China , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Diabetes Gestacional/sangue , Jejum/sangue , Feminino , Macrossomia Fetal/etiologia , Idade Gestacional , Humanos , Recém-Nascido , Razão de Chances , Pré-Eclâmpsia/sangue , Gravidez , Nascimento Prematuro/etiologia , Curva ROC , Fatores de Risco , Triglicerídeos/sangue , Adulto Jovem
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