ABSTRACT
Aim: To explore, in one patient, the possibility that D-bifunctional protein (D-BP) deficiency affects telomere length, and to determine the profile of genetic expression. Presentation of Case: Due to the symptoms of a newborn and his family background, a peroxisomal panel was performed. There were high levels of very long chain fatty acids and abnormal peroxisomes. At 8 months the patient exhibited other complications, including progressive multi systemic deterioration, and at 15 months died of pneumonia. Discussion: Analysis of the patient’s fibroblasts provided evidence of a defect in the peroxisomes and in the oxidation of fatty acids, leading to a diagnosis of D-BP deficiency. Significant alterations were found in the genetic expression profile, with the greatest number of affected genes involved in neuronal functions, two implicated in peroxisomal biogenesis, and some others related to telomere protection and DNA repair. The child had a mixture of very short and normal length telomeres, a condition commonly observed in the elderly and in individuals with chronic degenerative diseases. Conclusion: The abnormal function of peroxisomes and altered gene expression found in the patient under study could explain the affected telomere length. Further studies are needed to explore this possibility.
ABSTRACT
Alrededor del mundo existen más de 120 millones de mujeres que emplean algún tipo de anticonceptivo hormonal oral. Si bien la disminución en la dosis de los anticonceptivos orales combinados, particularmente en el contenido total de estrógenos, ha hecho que esta opción anticonceptiva, una de las más atractivas en la regulación de la fertilidad. Las usuarias, en su mayoría mujeres sanas con una baja incidencia general de enfermedades importantes, requieren de información veraz y actualizada acerca de los riesgos cardiovasculares que conllevan el empleo de estos métodos anticonceptivos. En este trabajo de revisión, se examinan estudios epidemiológicos sobre la relación entre las enfermedades cardiovasculares y el empleo de anticonceptivos hormonales orales. Específicamente, se analiza los factores de riesgo para el desarrollo de infarto agudo del miocardio, accidentes cerebrovasculares, isquémicos y hemorrágicos, así como tromboembolismo venoso. Se recomienda que antes de prescribir anticonceptivos hormonales orales a mujeres en edad reproductiva, se haga un análisis individual y profundo de los factores de riesgo asociados con su empleo.
Currently, more than 120 millions of women around the world use some method of oral hormonal contraceptive. Although the decrease in the oral contraceptive dosage, especially in total estrogen content, allowed oral contraceptives as a popular method for fertility regulation in women. Users, most of them healthy with a low incidence of chronic diseases, request information on safety of oral contraceptives regarding cardiovascular risks associated with their long-time use. In this review, we analyzed current available scientific epidemiological data on cardiovascular diseases, associated with the use of oral hormonal contraceptives, especially on its association with risk of; acute myocardial infarction, ischemic and hemorrhagic cerebrovascular diseases and venous thromboembolism. It' is advisable that before prescribing oral hormonal contraceptives to women of reproductive age, a deep individual analysis of the risk factors associated with its use should be considered.