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1.
Curr Med Sci ; 39(4): 576-581, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31346993

RESUMO

The present analysis aims to investigate the prevalence of thyroid nodules in type 2 diabetes mellitus (T2DM) population. We searched PubMed, EMBASE, and Web of Science from inception to the March 1, 2018. The studies were selected to estimate the prevalence of thyroid nodules in T2DM subjects and to compare the prevalence of thyroid nodules in different glucose tolerance status. The random effects model was used, and the outcome was presented as a pooled prevalence proportion with 95% confidence interval (95% CI) or a summary odds ratio (OR) with 95% CI. In the end, 9 studies met the inclusion criteria and were included in the analysis. The pooled prevalence of thyroid nodules was 60% (95% CI: 0.52, 0.68) for T2DM 2 diabetes patients, 50% (95% CI: 0.48, 0.51) for pre-diabetes, and 43% (95% CI: 0.34, 0.52) for normal glucose tolerance population. Compared with patients without diabetes, diabetes subjects are more likely to develop thyroid nodules, adjusted OR for thyroid nodule was 1.78 (95% CI: 1.25, 2.55). Insulin resistance might be involved in thyroid nodule development.


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Adulto , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Prevalência , Nódulo da Glândula Tireoide/complicações , Nódulo da Glândula Tireoide/patologia
2.
Artigo em Inglês | MEDLINE | ID: mdl-24001192

RESUMO

Lesch-Nyhan disease (LND) is caused by deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT). The aim of the present study is to characterize the molecular deficiency of a clinical diagnosed Chinese patient with attenuated variant of LND. The coding region and the intron-exon boundaries of HPRT1 gene were sequenced by standard methods, and HPRT activity was assayed by HPLC method. Structure analysis was performed to estimate the consequence of the mutant of HPRT1 gene. A new mutation c.245T>G (p.Ile82Ser) was identified in this patient, and heterozygous mutation was found in the patient's mother. The activity of HPRT in the patient was completely undetectable. Structure study indicates that the mutation of p.Ile82Ser may lead to loss of hydrophobic side chain and disrupt its normal conformation of HPRT protein. It is helpful for diagnosis of LND that sequencing analysis of HPRT1 gene is performed in male infant and juvenile with hyperuricaemia and neurologic dysfunction in Chinese.


Assuntos
Hipoxantina Fosforribosiltransferase/química , Hipoxantina Fosforribosiltransferase/genética , Síndrome de Lesch-Nyhan/genética , Adulto , China , Humanos , Masculino , Modelos Moleculares , Mutação , Adulto Jovem
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