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1.
Genet Couns ; 24(2): 149-56, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24032284

RESUMEN

DNA damage seems to play a role in the pathogenesis of type-2 diabetes mellitus (DM2) and its complications. Several in vitro assays have been used to measure the DNA damage. In the present study, we aimed to investigate the frequency of sister chromatid exchange (SCE) and micronuclei (MN) in DM2 patients compared with healthy controls. SCE and MN tests were carried out with the blood-cell cultures from 50 DM2 patients and 30 healthy, age- and sex-matched control subjects. The mean age of the DM2 patients was 58.12 +/- 13.39 years, with a mean duration of the diabetes of 5.40 +/- 4.32 years. The mean level of HbAlc of the DM2 patients was 8.93 +/- 2.56. Patients with DM2 showed a higher frequency of SCE compared with controls (7.11 +/- 1.14 and 4.96 +/- 0.92, p < 0.001). Furthermore, the SCE frequency was positively correlated with the plasma HbA1c level (p < 0.05), but there was no significant correlation between the duration of diabetes and SCE. On the other hand, our result showed a MN frequency significant increase in DM2 patients (3.45 +/- 1.01 per 1000 cells) relative to that of the control group (1.79 +/- 0.67 per 1000 cells) (p < 0.001), but there was no significant correlation between the duration of diabetes, HbA1c and MN. In conclusion, these results suggest that DM2 is a condition with genomic instability characterized by an increased level of SCE and MN. Hyperglycemia-induced oxidative stress may be the underlying factor of the increased SCE and MN frequency.


Asunto(s)
Daño del ADN/genética , Diabetes Mellitus Tipo 2/genética , Pruebas de Micronúcleos/métodos , Intercambio de Cromátides Hermanas/genética , Anciano , Diabetes Mellitus Tipo 2/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad
2.
Genet Couns ; 21(2): 237-42, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20681226

RESUMEN

Situs inversus viscerum is a condition in which the organs of the chest and abdomen are arranged in a perfect mirror image reversal of the normal positioning. The condition is in about 1 in 8,500 people. Although the mechanism that causes the heart loop to go left is not fully understood, it is thought that many factors are involved. Here we report a case with balanced reciprocal translocation and situs inversus viscerum. The case was a 35 year old single person. In the imaging studies, his heart was on the right (dextrocardia), his liver was on the left, and his spleen was on the right. Cytogenetic study showed that the man carried a balanced reciprocal translocation: 46,XY, t(5;11)(q32;q24.2). He had no dysmorphism. He had chronic gastritis and chronic esophageal acid reflux.


Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 5 , Situs Inversus/genética , Translocación Genética , Adulto , Dextrocardia , Humanos , Masculino
3.
J Int Med Res ; 38(1): 187-94, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20233528

RESUMEN

This study investigated the effect of interferon alpha2b on chlorhexidine gluconate (CH)-induced peritoneal fibrosis (PF) in rats and assessed peritoneal tissue levels of metalloproteinase (MMP)-2 and tissue inhibitors of metalloproteinases (TIMP)-2. Wistar albino rats (n = 8 per group) were treated as follows: control group, 3 ml/day of 0.9% saline intra-peritoneally for 28 days; CH group, 0.1% CH (200 g[3 ml]/day) in 15% ethanol and 0.9% saline intra-peritoneally for 28 days; CH + interferon (IFN) group, CH (as above) plus pegylated IFN-alpha2b 1.5 mug/kg per week subcutaneously on days 0, 7, 14, 21 and 28; IFN group, pegylated IFN-alpha2b (as above). Parietal peritoneum samples were obtained from the left anterior abdominal wall after 35 days. Parietal thickness, degree of vascular proliferation and inflammation, and MMP-2 and TIMP-2 levels were determined. The mean peritoneal thicknesses of the control, CH, CH + IFN and IFN groups were 7.02 +/- 3.89, 156.86 +/- 29.13, 59.88 +/- 22.1, 9.27 +/- 2.03 mum, respectively. Pegylated IFN-alpha2b decreased CH-induced expression of MMP-2 in the parietal peritoneum, but had no effect on TIMP-2 levels. Further studies are needed to determine the optimal dosage and duration for pegylated IFN-alpha2b treatment.


Asunto(s)
Biomarcadores/metabolismo , Interferón-alfa/farmacología , Metaloproteinasa 2 de la Matriz/metabolismo , Fibrosis Peritoneal/tratamiento farmacológico , Peritoneo/efectos de los fármacos , Polietilenglicoles/farmacología , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Animales , Antiinfecciosos/toxicidad , Antivirales/farmacología , Clorhexidina/análogos & derivados , Clorhexidina/toxicidad , Modelos Animales de Enfermedad , Portadores de Fármacos , Interferón alfa-2 , Masculino , Fibrosis Peritoneal/inducido químicamente , Fibrosis Peritoneal/enzimología , Peritoneo/enzimología , Ratas , Ratas Wistar , Proteínas Recombinantes
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