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W Liu, Y Wang, X Han, X Cai, Y Zhu, M Zhang, S Gong, J Li and L Ji

Objective

Type 1 diabetes (T1DM) is associated with a higher risk of premature death, but there are factors in certain patients with T1DM that protect them from complications and premature death. These factors had not been identified in non-Caucasian populations, so we aimed to identify factors that protect against the development of diabetic nephropathy (DN) and diabetic retinopathy (DR) in long-standing T1DM in China.

Methods

Ninety-five T1DM patients with >30 years’ duration of diabetes were enrolled in this nationwide study. Differences between groups of patients with and without complications were compared, and multivariable regression analysis was used to evaluate the relationships between candidate protective factors and the development of DN or DR.

Results

Thirty of the participants did not have DN and the same amount did not have DR. 6/52 of participants without DN were from a rural area, whereas 11/28 of participants with DN had been born in a rural area (P = 0.005). Systolic blood pressure (SBP) was higher in participants with DN (135 ± 26 mmHg vs 121 ± 13 mmHg; P = 0.002). In participants without DR, 27/30 were married or cohabitating, and only 3/30 were single, never married, or widowed, but for those with proliferative DR (PDR), 13/26 had been married (P = 0.003). A rural or urban origin and SBP were associated with DN in the multivariable analysis.

Conclusion

we have shown that higher socioeconomic status, indicated by birth in an urban area, and being married or cohabitating, are accompanied by better blood pressure control and a lower risk of microvascular complications in Chinese patients with long-standing T1DM. These findings illustrate the importance of improving care for patients with T1DM in China.

Open access

Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro Jr, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar M Lourenço Jr, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo and Ana L Maia

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.