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<p><b>OBJECTIVE</b>To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.</p><p><b>METHODS</b>Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes. All exons of DUOX2 gene were analyzed using PCR and direct sequencing.</p><p><b>RESULTS</b>G3632A mutation in the exon 28 of DUOX2 that may result in arginine to histidine substitution at codon 1211 was found in one patient. T2033C mutation in the exon 17 of DUOX2 that may result in histidine to arginine substitution at codon 678 was found in three patients. They were all heterozygous mutations.</p><p><b>CONCLUSIONS</b>Heterozygous mutations in DUOX2 may affect protein function and cause CH. The relationship between DUOX2 genotypes and clinical phenotypes is unclear and needs further studies.</p>
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Masculino , Biologia Computacional , Hipotireoidismo Congênito , Genética , Oxidases Duais , Mutação , NADPH Oxidases , Genética , Análise de Sequência de DNARESUMO
Objective To determine the prevalences and risk factors of hyperuricemia(HUA)and gout among residents aged≥20 years in Shandong coastal areas.Methods A random stratified cluster sampling was conducted,and 5003 inhabitants were investigated for prevalences of HUA and gout in Qingdao,Yantai,Weihai, Rizhao and Dongying.Results (1)The prevalence of HUA was 13.19%,after standardization according to the Shandong population in 2000,standardized rate was 13.27%,in which the prevalence in males was 18.32% and females 8.56%.The prevalence of gout was 1.14% and the standardized rate was 1.10%,in which the prevalence in males was 1.94% and females 0.42%;(2)Serum uric acid was(343.4?84.5)?mol/L in normal males and (258.9?70.9)?mol/L in normal females.Serum uric acid was(469.4?48.1)?mol/L in males with HUA and (399.7?104.9)?mol/L in females with HUA.In gout group,serum uric acid in males and females was respectively(502.4?106.8)?mol/L and(403.5?52.7)?mol/L;(3)The prevalence of gout in patients with HUA was 8.64%;(4)Non-conditional logistic regression analysis showed that frequency and quantity of alcohol intake were independent risk factors for males in the HUA group,while HDL-C and farming were protective factors. As for females,age and hypertension were independent risk factors of HUA.Similarly,HDL-C was a protective factor;(5)In HUA patients,65% had hypertension,53% hyperlipidemia,30% glucose metabolic disorder,48% overweight and 10% obesity.In gout patients,57% had hypertension,61% hyperlipidemia,20% glucose metabolic disorder,56% overweight and 7% obesity.Conclusion The prevalences of HUA and gout are significantly increased in Shandong coastal areas in recent years.Restricting the intake of sea foods rich in purine such as seashell,reducing the intake of alcohol especially beer,reducing body weight and abdominal obesity, correcting lipid metabolic disorder and controlling hypertension are important measures in preventing and treating hyperuricemia and gout.
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Acute coronary artery syndrome (ACS) was confirmed by coronary arteriography in 398 patients,and 378 healthy persons served as the control group.Serum uric acid in ACS and control group showed normal distribution,and serum uric acid level in ACS group (322?107 )?mol/L was significantly higher than those in control group (302?77)?mol/L (P＜0.01 ).The prevalence of hyperuricemia (HUA) was 27.0% in male patients and 25.2% in female.Systolic blood pressure,diastolic blood pressure,fasting plasma glucose,total cholesterol,triglycerides,creatinine and blood urea nitrogen in ACS group were higher than those in control group (all P＜0.01 ).Muhivariable analyses adjusted for age and sex indicated that raised fasting plasma glucose,total cholesterol,uric acid and mean arterial pressure were risk factors for coronary artery stenosis in ACS,and HUA played a role in the pathogenesis of ACS.
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The association of polymorphisms of calcium channel?1 subunit ( Cav1.1 ) gene ( - 1551T/C at exon 11 ) with thyrotoxic periodic paralysis (TPP) was investigated by PCR-RFLP.The distributions and frequencies of - 1551TC + CC genotype and C allele in TPP group were significantly higher than those in hyperthyroidism (HT) and normal control (CON) groups.There was no statistic difference between HT and CON groups.Cavl.1 gene - 1551TC + CC genotype and allele may contribute to the development of TPP in male HAN population from North China.
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Objective To determine chromosomal localization of the primary gout susceptibility gene in a pedigree.Methods The clinical data and the peripheral blood samples were collected in the pedigree members and the genomic DNA was extracted from peripheral blood.A genome-wide screening was performed using 400 micro-satellite DNA markers in this family,and linkage analysis was used to determine the chromosomal location of the primary gout susceptibility gene.Results Linkage analysis showed that the maximum LOD score reached 1.50 at marker D4S1572 (at recombination fraction?=0.00).Conclusion Since D4S1572 is localized at 4q25,the primary gout susceptibility gene of this pedigree is localized at 4q25.
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Objective To establish the reference databases for bone mineral density(BMD)in multiple skeletal regions,which would be useful for diagnosis of osteoporosis(OP)and prediction of fracture risk in adult women in Qingdao.Methods BMD was measured by dual-energy X-ray absorptiometry at skeletal regions of lumbar spine,left hip(femoral neck,Ward's triangle and greater trochanter)in 868 healthy adult women aged 25- 83 years and 191 women with fractures.BMD of skeletal regions with age-related change was found to fit in 8 kinds of regression models.Best model equations of fitting were found and the reference database was established.BMD of women with fractures was compared with the reference databases to predict the risk of fracture.Results BMD in 6 skeletal regions changed with aging and a cubic regression model was better fitted with aged-related change as compared with other regression models.The coefficients of determination(R~2)of fitting curve were 0.21?0.09 (P＜0.01).The BMD reference databases of women in Qingdao were established by cubic regression equation, the peak BMD of lumbar spine and hip appeared at 25-29,and 40-44 years old groups respectively.Finally,the BMD in fracture group was significantly decreased by 1.6-2.5 s as compared with the peak BMD of health women. Conclusion The bone quantity is lost rapidly after 45 years old in women.If the BMD in women after 50 years old is decreased by 1.6-2.5 s compared with the peak BMD in the same area,the risk of fracture is increased.
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Serum tumor necrosis factor-?(TNF-?) and interleukin-6 (IL-6) levels were measured in patients with simple hyperuricemia or hyperlipidemia combined with hyperglycemia and hyperuricemia.The results showed that TNF-?,IL-6 levels in patients with hyperuricemia were higher than those in normal controls (both P