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OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with resistance to thyroid hormone syndrome (RTH).@*METHODS@#Exons 7 to 10 of the THRbeta gene were sequenced for the proband and members of his pedigree.@*RESULTS@#Three patients from the pedigree were identified. All have presented with palpitation, fatigue, goiter, elevated free thyroid hormone and free triiodothyronine, and normal or elevated thyrotropin. Genetic testing revealed that the proband, his mother, second sister and one of her daughters had carried a heterozygous c.1336T>A variant of the THRbeta gene, which resulted in substitution of Cysteine by Serine at position 446. The variant was unreported previously. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.1336T>A(p.Cys446Ser) variant of THRbeta gene was predicted to be lilely pathogenic(PM1+PM2+PM5+PP3).@*CONCLUSION@#The c.1336T>A variant, identified in the exon 10 of the THRbeta gene, probably underlay the RTH in this pedigree. Genetic testing has validated the clinical diagnosis for this pedigree.
Assuntos
Feminino , Humanos , Genômica , Heterozigoto , Mães , Mutação , LinhagemRESUMO
Objective To explore the relationship between serum 25-hydroxy vitamin D 3 level and carotid atherosclerosis plaque in elderly patients with type 2 diabetes .Methods 308 elderly patients with type 2 diabetes were selected .The carotid artery intimal plaque was measured .According to the characteristics and size of plaque ,they were divided into the medium/big group,small plaque group and no plaque group .Blood pressure,body mass index (BMI),fasting plasma glucose(FPG),glycosylated hemoglobin(HbA1c),blood lipids,c-reactive protein(CRP)and the concentration of serum 25-hydroxy vitamin D 3 were detected .The risk factors forcarotid atherosclerosis plaque were analyzed,exploring the the relationship between serum 25-hydroxy vitamin D3 level and carotid atherosclerosis plaque . Results Age,CRP(4.21 ±1.61) mg/L in the medium/big group was significantly higher than those of the small plaque group(3.41 ±1.92)mg/L and the no plaque group(2.52 ±1.18)mg/L(t=1.96,3.14,all P<0.05).The level of serum 25-hydroxy vitamin D3 in the medium/big group(15.28 ±5.86)nmol/L was significantly less than that of the small plaque group(24.30 ±7.60)nmol/L and the no plaque group(32.74 ±8.13)nmol/L(t=4.67,3.41,all P<0.01).The level of serum 25-hydroxy vitamin D3 in the small plaque group was significantly less than that of the no plaque group(t=2.51,P<0.05).There was positive correlation between carotid atherosclerotic plaques and age , BMI,HbA1c,CRP and LDL-C( r=0.45,0.38,0.53,0.47,all P<0.05).There was negtive correlation between carotid atherosclerotic plaques and 25-hydroxy vitamin D3(r=-0.62,P<0.05).Logstic regression analysis showed that age,BMI,HbA1c,CRP,LDL-C and 25-hydroxy vitamin D3 were independent risk factors for the development of carotid atherosclerotic plaque .Conclusion The risk factors for carotid atherosclerotic plaques in elderly patients with type 2 diabetes are age,BMI,HbA1c,CRP,LDL-C and 25-hydroxy vitamin D3 concentration.25-hydroxy vitamin D3 may be a predictor of carotid atherosclerotic plaques .
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Objective To evaluate the serum 25-hydroxy vitamin D 3 level in newly diagnosed type 2 diabe-tes,and its relationship with function of islet beta cell .Methods 60 newly diagnosed type 2 diabetes patients and 48 normal glucose tolerance healthy control cases were selected .The level of serum 25-hydroxy vitamin D3 of two groups were measured using the way of high performance liquid chromatograph .The difference was compared between two groups.Insulin resistance index(HOMA-IR) and islet beta cell secrete index(HOMA-β) was used to respectively es-timate insulin sensitivity and islet beta cell function in type 2 diabetes group .The correlation was analyzed between 25-hydroxy vitamin D 3 and fasting blood glucose ,HOMA-IR,HOMA-β.Results The level of serum 25-hydroxy vita-min D3 (28.68 ±1.61) ng/mL in type 2 diabetes group was significantly lower than that of control group (41.30 ± 1.12)ng/mL(t=3.47,P0.05).Conclusion The level of 25-hydroxy vitamin D 3 was significantly low in newly diagnosed type 2 diabetes patients .Low serum 25-hydroxyl vitamin D 3 level affects islet beta secretion cell function ,the supplementation of vitamin D 3 may be a simple and effective method to reduce the ocurrence of type 2 diabetes .