RESUMO
OBJECTIVE: Phelan-McDermid syndrome is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The aims of this research were to determine the prevalence of the disease in the Spanish population, to establish the geographical distribution of the syndrome among the different autonomous communities, to elucidate the age range that affects more patients, to study the disease-sex relationship, as well as the age at diagnosis. METHODS: For the research, patients diagnosed with the disease for twelve years were recruited throughout the Spanish territory. The clinical patient information was obtained from the referral doctors using two standardized questionnaires completed with data from the medical reports and the interview with the parents. The molecular diagnosis of the disease was carried out using different formats of microarrays. Data were processed using Microsoft Excel and Statgraphics Centurion XVII. RESULTS: Currently in Spain there are 201 people diagnosed with the disease. Currently in Spain there are 201 people diagnosed with the disease, its prevalence being 4x10-4/10,000 inhabitants. The community with the most diagnosed patients was Madrid and there were no significant differences in terms of sex and disease, the mean age at diagnosis was around 6.67 years. CONCLUSIONS: The prevalence of the disease in Spain is very low, and it can be stated that it is very likely that there are more people with this syndrome in the population.
OBJETIVO: El Síndrome de Phelan-McDermid es una enfermedad poco frecuente de origen genético causada por la deleción del extremo terminal del cromosoma 22 región q13.3 o por mutaciones puntuales que afectan al gen SHANK3. Los objetivos de este trabajo fueron determinar la prevalencia de la enfermedad en la población española, establecer la distribución geográfica del síndrome entre las distintas comunidades autónomas, dilucidar el rango de edad en el que existen más pacientes y estudiar la relación enfermedad-sexo así como la edad media al diagnóstico. METODOS: Para la investigación se reclutaron pacientes diagnósticados con la enfermedad durante doce años en todo el territorio español. La información clínica de los pacientes se obtuvo de los médicos de referencia mediante dos cuestionarios estandarizados completados con datos de los informes médicos y la entrevista a los padres. El diagnóstico molecular de la enfermedad se realizó utilizando diferentes formatos de microarrays. Los datos se trataron utilizando Microsoft Excel y Statgraphics Centurion XVII. RESULTADOS: Actualmente en España existen 201 personas diagnosticadas con la enfermedad siendo su prevalencia de 4x10-4/10.000 habitantes. La comunidad con más pacientes diagnosticados fue Madrid y no hubo diferencias significativas en cuanto al sexo y la enfermedad, la edad media al diagnóstico se sitúa en torno a los 6,67 años. CONCLUSIONES: La prevalencia de la enfermedad en España es muy baja pudiéndose afirmar que es muy probable que en la población existan más personas con este síndrome.
Assuntos
Transtornos Cromossômicos/epidemiologia , Criança , Deleção Cromossômica , Cromossomos Humanos Par 22 , Feminino , Geografia , Humanos , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Prevalência , Encaminhamento e Consulta , Espanha/epidemiologia , Inquéritos e QuestionáriosRESUMO
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease which is pathogenically based on the mitochondrial alteration of motor neurons, causing progressive neuron death. While ALS is characterized by enormous oxidative stress, the Mediterranean diet has been seen to have high antioxidant power. Therefore, the aim of this study is to determine how the Mediterranean diet can improve mitochondrial activity, establishing the specific nutrients and, in addition, observing the pathogenic mechanisms related to the disease that would achieve this improvement. To this end, a comprehensive review of the literature was performed using PubMed. KBs have been observed to have a neuroprotective effect to improve energy balance, increasing survival and the number of motor neurons. This ketogenesis can be achieved after following a Mediterranean diet which is associated with great benefits in other neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and ALS. These benefits are due to the high antioxidant power especially based on polyphenols contained mainly in olive oil, wine, nuts, or berries. In short, KBs could be considered as a promising option to treat ALS, representing an alternative source to glucose in motor neurons by providing neuroprotection. In addition, treatment results can be improved as ketogenesis can be achieved (increase in KBs) by following a Mediterranean diet, thanks to the high antioxidant properties which, at the same time, would improve the high oxidative stress that characterizes the disease.
RESUMO
OBJETIVO: El Síndrome de Phelan-McDermid es una enfermedad poco frecuente de origen genético causada por la deleción del extremo terminal del cromosoma 22 región q13.3 o por mutaciones puntuales que afectan al gen SHANK3. Los objetivos de este trabajo fueron determinar la prevalencia de la enfermedad en la población española, establecer la distribución geográfica del síndrome entre las distintas comunidades autónomas, dilucidar el rango de edad en el que existen más pacientes y estudiar la relación enfermedad-sexo así como la edad media al diagnóstico. MÉTODOS: Para la investigación se reclutaron pacientes diagnósticados con la enfermedad durante doce años en todo el territorio español. La información clínica de los pacientes se obtuvo de los médicos de referencia mediante dos cuestionarios estandarizados completados con datos de los informes médicos y la entrevista a los padres. El diagnóstico molecular de la enfermedad se realizó utilizando diferentes formatos de microarrays. Los datos se trataron utilizando Microsoft Excel y Statgraphics Centurion XVII. RESULTADOS: Actualmente en España existen 201 personas diagnosticadas con la enfermedad siendo su prevalencia de 4x10-4/10.000 habitantes. La comunidad con más pacientes diagnosticados fue Madrid y no hubo diferencias significativas en cuanto al sexo y la enfermedad, la edad media al diagnóstico se sitúa en torno a los 6,67 años. CONCLUSIONES: La prevalencia de la enfermedad en España es muy baja pudiéndose afirmar que es muy probable que en la población existan más personas con este síndrome
OBJECTIVE: Phelan-McDermid syndrome is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The aims of this research were to determine the prevalence of the disease in the Spanish population, to establish the geographical distribution of the syndrome among the different autonomous communities, to elucidate the age range that affects more patients, to study the disease-sex relationship, as well as the age at diagnosis. METHODS: For the research, patients diagnosed with the disease for twelve years were recruited throughout the Spanish territory. The clinical patient information was obtained from the referral doctors using two standardized questionnaires completed with data from the medical reports and the interview with the parents. The molecular diagnosis of the disease was carried out using different formats of microarrays. Data were processed using Microsoft Excel and Statgraphics Centurion XVII. RESULTS: Currently in Spain there are 201 people diagnosed with the disease. Currently in Spain there are 201 people diagnosed with the disease, its prevalence being 4x10-4/10,000 inhabitants. The community with the most diagnosed patients was Madrid and there were no significant differences in terms of sex and disease, the mean age at diagnosis was around 6.67 years. CONCLUSIONS: The prevalence of the disease in Spain is very low, and it can be stated that it is very likely that there are more people with this syndrome in the population
