ABSTRACT
Las mucopolisacaridosis son enfermedades multisistémicas que requieren para su atención equipos multidisciplinares amplios. Por ello se hacen necesarias recomendaciones específicas para la transición de la edad pediátrica a la adulta en este grupo de pacientes. Para la superación de las barreras que pudieran surgir durante la transición, los autores consideran esencial realizar un plan flexible con un coordinador de todo el proceso, sistematizar la información a través de un informe de alta pediátrico estandarizado, formar al paciente y su familia sobre la enfermedad y mostrar las características del sistema sanitario en esta nueva etapa. El objetivo final es que al concluir la transición a la edad adulta se haya maximizado la autonomía y el potencial de desarrollo del paciente y este reciba una atención sanitaria adecuada durante dicho periodo de transición (AU)
Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. To overcome the barriers that might arise during the transition, the authors consider it essential to implement a flexible plan with a coordinator for the entire process, systematising the information through a standardised paediatric discharge report and educating the patient and their family about the disease, showing the characteristics of the healthcare system in this new stage. The final objective is that, once the transition to adulthood has been completed, the patient's autonomy and potential development are maximised and that the patient receives appropriate healthcare during this transition (AU)
Subject(s)
Humans , Child , Adult , Mucopolysaccharidoses/epidemiology , Transitional Care/statistics & numerical data , Rare Diseases/epidemiology , Genetic Diseases, Inborn/epidemiology , Continuity of Patient Care/organization & administration , Early DiagnosisABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant, Premature/blood , Infant, Very Low Birth Weight/blood , Carnitine/analogs & derivatives , Carnitine/blood , Reference Values , Neonatal Screening , Retrospective StudiesABSTRACT
INTRODUCCIÓN: El ductus arterioso persistente (DAP) es frecuente en prematuros. Su cierre quirúrgico puede causar parálisis de cuerda vocal izquierda (PCVI) por lesión del recurrente. MATERIAL Y MÉTODOS: Estudio retrospectivo de prematuros con DAP de nuestro centro entre 1999-2013. Revisamos sus características y complicaciones de tratamiento. En los pacientes intervenidos se realizó una encuesta sobre síntomas relacionados con PCVI y se ofertó realizar una laringoscopia. RESULTADOS: Revisamos 88 pacientes diagnosticados de DAP en el período de estudio. Doce (13,64%) precisaron cirugía, los de menor edad gestacional y peso al nacer, teniendo mayor necesidad de ventilación mecánica e incidencia de parálisis diafragmática, displasia broncopulmonar y hemorragia intraventricular. El 33,3% (3/9) de los pacientes intervenidos tuvieron PCVI, presentando disfonía todos ellos (100 vs 16,7%, p = 0,05). DISCUSIÓN: La PCVI es una complicación frecuente de la cirugía del DAP. Serían necesarios más estudios que aclaren sus factores de riesgo y consecuencias a corto y largo plazo
INTRODUCTION: Patent ductus arteriosus (PDA) is a common problem in preterm newborns. Left vocal cord paralysis (LVCP) can complicate surgical closure if the recurrent nerve is damaged. MATERIALS AND METHODS: A retrospective case series study was conducted on preterm babies diagnosed with PDA in our unit from 1999 to 2013. Their clinical features and treatment complications were reviewed. In those patients that received surgical treatment a telephone uestionnaire on the symptoms of LVCP symptoms was completed, and laryncoscopy examination offered. RESULTS: A total of 88 subjects diagnosed with PDA were found, of whom 13.64% (12/88) needed surgery. These patients had a lower gestational age and birth weight. They required mechanical ventilation more frequently, and they had more complications such as, diaphragmatic paralysis, bronchopulmonary dysplasia and intraventricular hemorrhage. One third (3/9) of the surgically treated patients had LVCP, and all of them had dysphonia (100% vs. 16.7%, p = .05). DISCUSSION: LVCP is a common complication of PDA surgery. Further studies are needed to determine its risk factors and its short and long-term consequences
Subject(s)
Humans , Male , Female , Infant, Newborn , Paralysis/complications , Paralysis/diagnosis , Vocal Cord Paralysis/complications , Vocal Cord Paralysis/diagnosis , Ductus Arteriosus/abnormalities , Paralysis/congenital , Paralysis/metabolism , Vocal Cord Paralysis/mortality , Vocal Cord Paralysis/therapy , Ductus Arteriosus/metabolismABSTRACT
No disponible
Subject(s)
Humans , Male , Infant, Newborn , Osteogenesis, Distraction , Pierre Robin Syndrome/surgery , Mandibular Advancement , Jaw Abnormalities/surgeryABSTRACT
El fallo hepático agudo neonatal es una entidad poco frecuente, con una mortalidad muy elevada. La sospecha de fallo hepático ante situaciones de mal estado general y disfunción hepática, hipoglucemia recurrente o persistente y clínica de sepsis es fundamental para establecer un tratamiento precoz y efectivo. Existen pruebas de primera y segunda línea para poder orientar un diagnóstico etiológico, a la vez que se instauran medidas generales que permitan su estabilización, antes de considerar otras medidas terapéuticas, como el trasplante hepático. Presentamos el inicio y la evolución de 2 casos de fallo hepático neonatal diagnosticados de hemocromatosis y linfohistiocitosis hemofagocítica familiar (AU)
Acute neonatal liver failure is a rare entity with a high mortality rate. In order to establish an early and effective treatment, a high index of suspicion in newborns with a poor general condition and hepatic dysfunction, recurrent or persistent hypoglycaemia and signs and symptoms of sepsis, is critical. There are first- and second-line test to establish the aetiology, parallel to the implementation of general stabilization measures, and prior to the consideration of other therapeutic options such as liver transplantation. We present the onset and the outcome of two patients affected from acute neonatal liver failure that were diagnosed of hemochromatosis and hemophagocytic lymphohistiocytosis, respectively (AU)
Subject(s)
Humans , Pregnancy , Female , Infant, Newborn , Hemochromatosis/diagnosis , Hemochromatosis/metabolism , Hemochromatosis/mortality , Infant, Newborn, Diseases/diagnosis , Hemochromatosis/complications , Hemochromatosis/embryology , Infant, Newborn, Diseases/genetics , Infant, Newborn, Diseases/metabolismABSTRACT
La Tirosinemia tipo I es una enfermedad potencialmente letal si no se diagnostica y trata adecuadamente. Los avances diagnóstico terapéuticos en los últimos años han mejorado ostensiblemente el pronóstico de estos pacientes. Por ello es importante que el pediatra disponga de una guía de práctica clínica con recomendaciones para el diagnóstico, y manejo terapéutico de esta enfermedad que contribuya a una adecuada actuación (AU)
Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention (AU)
Subject(s)
Humans , Tyrosinemias/complications , Liver Failure, Acute/etiology , 4-Hydroxyphenylpyruvate Dioxygenase/therapeutic use , Tyrosinemias/diagnosis , Carcinoma, Hepatocellular/diagnosis , Tyrosinemias/drug therapy , Liver TransplantationABSTRACT
The increase in scientific knowledge and the need for its transmission to health professionals and patients has resulted in the creation of websites as a useful tool. In low prevalence diseases, such as rare diseases (RDs), sites are being created by scientific societies, institutions and patients. This section reviews the most important websites dealing with RDs both nationally and internationally.
Subject(s)
Internet , Rare Diseases , Societies , Humans , Information DisseminationABSTRACT
El incremento del conocimiento científico y lanecesidad de su transmisión a los responsables de lasalud y a los pacientes, ha propiciado que una herramientaútil sea la creación de portales web. En enfermedadespoco prevalentes, como las enfermedadesraras (ER), se asiste a la creación de portales que surgendesde el área de las sociedades científicas, desdelos pacientes y las instituciones. En este capítulo seintenta reseñar los portales más significativos en ERtanto a nivel nacional como internacional
The increase in scientific knowledge and the needfor its transmission to health professionals andpatients has resulted in the creation of websites as auseful tool. In low prevalence diseases, such as rarediseases (RDs), sites are being created by scientificsocieties, institutions and patients. This sectionreviews the most important websites dealing with RDsboth nationally and internationally
