Comparación de los índices PROFUND y PALIAR en pacientes pluripatológicos con enfermedad crónica no oncológica en fase avanzada

Background and objective: To compare the discrimination power of PROFUND and PALIAR indexes for predicting mortality in polypathological patients with advanced non-oncologic chronic disease. Material and methods: Prospective multicentre cohort study. We included polypathological patients with advanced non-oncologic chronic disease, who were admitted to internal medicine departments between July 1 st and December 31th, 2014. Data was collected from each patient on age, sex, categories of polypathology, advanced disease, comorbidity, functional and cognitive assessment, terminal illness symptoms, need for caregiver, hospitalisation in the past three and 12 months and number of drugs. We calculated the PROFUND and PALIAR indexes and conducted a 12-month follow-up. We assessed mortality with the Kaplan-Meier survival curves and the discrimination of indexes with the ROC curves. Results: We included 213 patients with a mean (standard deviation) age of 83.0 (7.0) years, 106 (49.8%) of whom were female. Mortality at six months was 40.4% and at 12 months 50.2%. Deceased patients scored higher scores on the PROFUND [11.2(4.2) vs 8.5(3.9); P <.001] and PALIAR [6.7 (4.6) vs 3.6(3.1); p < 0, 001] indexes. The discrimination of PALIAR index at six months (under the curve area 0.734 95%CI 0.665-0.803) was higher than of PROFUND, and there was no difference at 12 months. Conclusions: In polypathological patients with advanced non-oncologic chronic disease, the PALIAR index had better discrimination power than PROFUND index at 66 months and there were no differences at 12 months

Prenatal encephalopathies of unknown origin. Our 19 years experience. To what extent must genetic and biochemical studies be carried out?

Introduction: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. Material and methods: We analysed our 19-year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. Results: The 19-year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. Discussion: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs. Resumen: Introducción: Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un número importante de niños controlados en las consultas de neuropediatría. Pueden ser disruptivas (por problemas vasculares durante el embarazo, drogas, tóxicos o infecciones congénitas), y genéticamente determinadas. Incluimos casos de trastorno del espectro autista y retardo mental sin historia de sufrimiento perinatal o postnatal. Material y métodos: Se revisa nuestra experiencia en el diagnóstico etiológico de las encefalopatías prenatales durante los últimos 19 años. Se analizan los estudios realizados en los casos sin diagnóstico etiológico. Resultados: En el periodo de estudio de 19 años y 5 meses, en la base de datos de neuropediatría figuran 11.910 niños. Tienen establecido el diagnóstico de encefalopatía prenatal 1596 (13,5%). De ellos no tienen diagnóstico etiológico preciso 1.307 niños (81,4%) pese a habérseles realizado múltiples estudios complementarios, fundamentalmente bioquímicos, genéticos y de neuroimagen. Discusión: Muchos de los niños incluidos en este estudio presentan enfermedades raras, estén o no identificadas, que demandan crecientemente un diagnóstico precoz. Enfermedades peroxisomales, lisosomales, mitocondriales, defectos congénitos de la glucosilación, entre otras enfermedades metabólicas hereditarias, infecciones congénitas, cromosomopatías y genopatías, pueden ser indistinguibles clínicamente y necesitan estudios específicos para su identificación. Un diagnóstico precoz precisa estrategias de estudios sistemáticos de forma escalonada, priorizando las enfermedades que tienen posibilidades terapéuticas y en muchos casos es necesaria también una aproximación individualizada. Creemos que las ventajas potenciales del diagnóstico precoz, incluido el ahorro de más pruebas, y la prevención, probablemente sobrepasan el gasto financiero. Keywords: Biochemical studies, Early diagnosis: aetiological diagnosis, Genetic studies, Neuroimaging, Prenatal encephalopathies, Rare diseases, Palabras clave: Diagnóstico etiológico, Diagnóstico precoz, Encefalopatías prenatales, Enfermedades raras, Estudios bioquímicos, Estudios genéticos, Neuroimage

Encefalopatías prenatales. Nuestra experiencia diagnóstica de 19 años. ¿Hasta dónde con los estudios bioquímicos y genéticos?

Resumen: Introducción: Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un número importante de niños controlados en las consultas de neuropediatría. Pueden ser disruptivas (por problemas vasculares durante el embarazo, drogas, tóxicos o infecciones congénitas), y genéticamente determinadas. Incluimos casos de trastorno del espectro autista y retardo mental sin historia de sufrimiento perinatal o postnatal. Material y métodos: Se revisa nuestra experiencia en el diagnóstico etiológico de las encefalopatías prenatales durante los últimos 19 años. Se analizan los estudios realizados en los casos sin diagnóstico etiológico. Resultados: En el periodo de estudio de 19 años y 5 meses, en la base de datos de neuropediatría figuran 11.910 niños. Tienen establecido el diagnóstico de encefalopatía prenatal 1596 (13,5%). De ellos no tienen diagnóstico etiológico preciso 1.307 niños (81,4%) pese a habérseles realizado múltiples estudios complementarios, fundamentalmente bioquímicos, genéticos y de neuroimagen. Discusión: Muchos de los niños incluidos en este estudio presentan enfermedades raras, estén o no identificadas, que demandan crecientemente un diagnóstico precoz. Enfermedades peroxisomales, lisosomales, mitocondriales, defectos congénitos de la glucosilación, entre otras enfermedades metabólicas hereditarias, infecciones congénitas, cromosomopatías y genopatías, pueden ser indistinguibles clínicamente y necesitan estudios específicos para su identificación. Un diagnóstico precoz precisa estrategias de estudios sistemáticos de forma escalonada, priorizando las enfermedades que tienen posibilidades terapéuticas y en muchos casos es necesaria también una aproximación individualizada. Creemos que las ventajas potenciales del diagnóstico precoz, incluido el ahorro de más pruebas, y la prevención, probablemente sobrepasan el gasto financiero. Abstract: Introduction: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. Material and methods: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. Results: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. Discussion: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs. Palabras clave: Diagnóstico etiológico, Diagnóstico precoz, Encefalopatías prenatales, Enfermedades raras, Estudios bioquímicos, Estudios genéticos, Neuroimagen, Keywords: Biochemical studies, Early diagnosis: aetiological diagnosis, Genetic studies, Neuroimaging, Prenatal encephalopathies, Rare disease