ABSTRACT
El desarrollo de las subespecialidades pediátricas constituye uno de los hechos más destacados de la pediatría de nuestro país desde mediados del siglo XX. La formación sanitaria especializada (FSE) en pediatría está actualmente basada en la orden SCO/3148/2006, de 20 de septiembre, por la que se aprueba y publica el programa formativo de la especialidad de pediatría y sus áreas específicas. Es un programa formativo estructurado en cuatro años que consigue formar al residente en las competencias necesarias de la pediatría, incluyendo la formación en unas competencias transversales, una formación en pediatría general y debe incluir además la formación en las diferentes áreas específicas. En 1995, el Consejo Nacional de Especialidades Médicas aprueba el concepto de área de capacitación específica (ACE). En Pediatría las ACE son necesarias para garantizar una adecuada asistencia sanitaria a la población infanto-juvenil, al mismo nivel que la medicina del adulto, asegurando mediante una formación reglada, una asistencia de calidad y uniforme. Se trata de dar un reconocimiento oficial a lo que hoy en día es una realidad asistencial en los hospitales españoles, en cualquier Comunidad Autónoma. (AU)
The development of pediatric subspecialties constitutes one of the most outstanding events in pediatrics in our country since the mid-20th century. The specialized health training (SHT) in pediatrics is currently based on order SCO/3148/2006, of September 20, which approves and publishes the training program for the specialty of pediatrics and its specific areas. It is a training program structured in 4 years that manages to train the resident in the necessary skills of pediatrics, including training in transversal skills, training in general pediatrics and must also include training in different specific areas. In 1995 was approved the specific training area (STA). In pediatrics, STAs are necessary to guarantee adequate health care for the child and adolescent population, at the same level as adult medicine, ensuring through regulated training, quality and uniform care. We want to give official recognition to what today is a healthcare reality in all the Spanish hospitals. (AU)
Subject(s)
Humans , Pediatrics/education , Pediatrics/trends , Specialization , 34600 , SpainABSTRACT
The development of pediatric subspecialties constitutes one of the most outstanding events in pediatrics in our country since the mid-20th century. The FSE in pediatrics is currently based on order SCO/3148/2006, of September 20, which approves and publishes the training program for the specialty of pediatrics and its Specific Areas. It is a training program structured in 4 years that manages to train the resident in the necessary skills of pediatrics, including training in transversal skills, training in general pediatrics and must also include training in different specific areas. In 1995 was approved the Specific Training Area (ACE). In pediatrics, ACEs are necessary to guarantee adequate health care for the child and adolescent population, at the same level as adult medicine, ensuring through regulated training, quality and uniform care. We want to give official recognition to what today is a healthcare reality in all the Spanish hospitals.
Subject(s)
Delivery of Health Care , Medicine , Adolescent , Humans , Child , Hospitals , PublishingABSTRACT
La adrenoleucodistrofia ligada al X es el trastorno peroxisomal más común. Se debe a mutaciones en el gen ABCD1, lo que ocasiona un acúmulo de ácidos grasos saturados de cadena muy larga en el suero, la corteza adrenal y la sustancia blanca del sistema nervioso central. La clínica se caracteriza por deterioro neurològico e insuficiencia suprarrenal con un pronóstico devastador. Se presenta un primer caso clínico de adrenoleucodistrofia ligada al X con evolución fatal que permitió identificar a dos familiares asintomáticos e instaurar un tratamiento preventivo. Aunque, en la actualidad, no existe un tratamiento curativo definitivo, hay que destacar la importancia del estudio familiar de pacientes en situación de riesgo para poder instaurar un tratamiento preventivo precoz y dar un asesoramiento genético adecuado.
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.
Subject(s)
Humans , Male , Infant , Child, Preschool , Child , Adrenoleukodystrophy/diagnosis , Adrenoleukodystrophy/genetics , Early DiagnosisABSTRACT
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.
La adrenoleucodistrofia ligada al X es el trastorno peroxisomal más común. Se debe a mutaciones en el gen ABCD1, lo que ocasiona un acúmulo de ácidos grasos saturados de cadena muy larga en el suero, la corteza adrenal y la sustancia blanca del sistema nervioso central. La clínica se caracteriza por deterioro neurològico e insuficiencia suprarrenal con un pronóstico devastador. Se presenta un primer caso clínico de adrenoleucodistrofia ligada al X con evolución fatal que permitió identificar a dos familiares asintomáticos e instaurar un tratamiento preventivo. Aunque, en la actualidad, no existe un tratamiento curativo definitivo, hay que destacar la importancia del estudio familiar de pacientes en situación de riesgo para poder instaurar un tratamiento preventivo precoz y dar un asesoramiento genético adecuado.
Subject(s)
Adrenoleukodystrophy/diagnosis , Adrenoleukodystrophy/genetics , Child , Child, Preschool , Early Diagnosis , Humans , Infant , MaleABSTRACT
Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequenas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamano de los hamartomas.
Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.
Subject(s)
Humans , Female , Child, Preschool , Child , Puberty, Precocious/diagnosis , Puberty, Precocious/etiology , Hamartoma/complications , Hypothalamic Diseases/complications , Hypothalamus/pathologyABSTRACT
Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.
