RESUMEN
INTRODUCTION: As numbers of transplant recipients and survival rates increase, the vulnerability of this population to several malignancies also rises. Non-melanoma skin cancer (NMSC) carries the highest rates of morbidity and mortality in this population. To avoid these malignancies, it is necessary to identify particular risk factors in transplant recipients and to follow preventive protocols. METHODS: The MEDLINE and EMBASE databases were reviewed using as keywords the medical subject headings (MeSH) "transplantation", "skin neoplasm" and "prevention". The search was limited to clinical trials, randomized clinical trials and case-control studies conducted during the previous 20 years. RESULTS: The most important risk factors for the development of NMSCs in the transplant recipient population are cumulative ultraviolet radiation exposure, use of immunosuppressive agents (especially azathioprine as a photosensitizing agent) and infections by human papillomaviruses. The use of sun protection and retinoids were identified as possible protective factors. Other potential therapies, such as antioxidants, difluormethylornithine and cyclooxygenase-2 inhibitors, require further study. CONCLUSIONS: Patient risk factors for the development of NMSC should be reviewed during the transplant consultation. Individuals found to be at increased risk should undergo closer follow-up and preventive care counseling. This article proposes an algorithm for the prevention of NMSC.
Asunto(s)
Carcinoma Basocelular/prevención & control , Carcinoma de Células Escamosas/prevención & control , Terapia de Inmunosupresión/efectos adversos , Trasplante de Órganos , Neoplasias Cutáneas/prevención & control , Carcinoma Basocelular/epidemiología , Carcinoma Basocelular/inmunología , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/inmunología , Quimioprevención , Humanos , Inmunosupresores/efectos adversos , Factores Protectores , Factores de Riesgo , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/inmunología , Luz Solar/efectos adversosRESUMEN
INTRODUCTION. Epilepsy is a neurological disorder characterised by a predisposition to the recurrence of seizures of distinct causation and with variable clinical manifestations. Up to 40% of patients do not manage to control their seizures with the first anticonvulsive drug and the addition of a second pharmaceutical affords control in only another 11%. Given the aetiological heterogeneity of pharmacoresistance, it has been suggested that the presence of genomic disorders in patients with refractoriness could be elements worthy of analysis when it comes to estimating the alteration in the pharmacokinetic or pharmacodynamic profiles of these patients. AIM. To detect the presence of subtelomeric rearrangements in Colombian paediatric patients with refractory epilepsy. PATIENTS AND METHODS. The multiplex ligation-dependent probe amplification (MLPA) technique was used to evaluate the presence of cytogenetically non-visible chromosome aberrations in subtelomeric regions of 113 patients diagnosed with refractory epilepsy from three national referral centres in Colombia. RESULTS. Subtelomeric chromosome aberrations were detected in 0.9% of patients corresponding to a duplication of locus 3p26.3 in gene CHL1. CONCLUSIONS. This study suggests the use of the MLPA methodology to detect subtelomeric rearrangements that may be associated with phenotypes of refractoriness in epileptic patients.
TITLE: Deteccion de rearreglos subtelomericos por MLPA en pacientes pediatricos con epilepsia refractaria en Colombia: papel del gen CHL1 en la farmacorresistencia.Introduccion. La epilepsia es un trastorno neurologico caracterizado por una predisposicion a la recurrencia de crisis convulsivas de etiologia diversa y con manifestaciones clinicas variables. Hasta un 40% de los pacientes no logra el control de las crisis con el primer tratamiento anticonvulsionante y la adicion de un segundo farmaco logra el control de solo un 11% adicional. Dada la heterogeneidad etiologica de la farmacorresistencia se ha propuesto que la presencia de trastornos genomicos en pacientes con refractariedad podrian ser elementos de analisis a la hora de estimar la alteracion en los perfiles farmacocineticos o farmacodinamicos de estos pacientes. Objetivo. Detectar la presencia de rearreglos subtelomericos en pacientes pediatricos colombianos con epilepsia refractaria. Pacientes y metodos. Se utilizo la tecnica de amplificacion multiple de sondas dependiente de ligamiento (MLPA) para evaluar la presencia de aberraciones cromosomicas no visibles citogeneticamente en las regiones subtelomericas de 113 pacientes diagnosticados con epilepsia refractaria provenientes de tres centros de referencia nacional en Colombia. Resultados. Se detectaron aberraciones cromosomicas subtelomericas en el 0,9% de los pacientes correspondientes a una duplicacion del locus 3p26.3 en el gen CHL1. Conclusion. Este estudio plantea el uso de la metodologia de MLPA para la deteccion de rearreglos subtelomericos que puedan asociarse con fenotipos de refractariedad en pacientes epilepticos.