RESUMEN
Resumen La adaptación de una atención especializada para recién nacidos con Síndrome de Down (SD) requiere el reconocimiento de sus características a nivel local. Objetivo: caracterizar los recién nacidos diagnosticados con SD y sus madres en unidades de atención materno infantil de la ciudad de Medellín. Adicionalmente, se exploraron factores asociados al diagnóstico oportuno antenatal. Método: estudio observacional descriptivo de tipo transversal con intención analítica basado en registros médicos de recién nacidos diagnosticados con SD en siete instituciones de Medellín, Antioquia entre enero de 2015 y diciembre de 2019 teniendo en cuenta variables tanto maternas como neonatales. Se realizó un análisis univariado mediante frecuencias absolutas y relativas, luego se realizó un análisis bivariado teniendo en cuenta los desenlaces neonatales según el acceso al control prenatal y el momento en el cual se realizó el diagnóstico (prenatal o neonatal) y finalmente se realizó un análisis multivariado para diagnóstico neonatal tardío. Resultados: el 50,2% de las madres al momento del parto tenía 35 años o menos, de estas el 59,9% pertenecía al régimen contributivo y el 83,4% realizó 4 controles prenatales (CPN) o más, a pesar de esto, se encontró que sólo el 33,7% tenían diagnóstico prenatal de SD. La mayoría (91,4%) de los neonatos tuvo diagnóstico de cardiopatía congénita y la estancia hospitalaria prolongada estuvo en relación a morbilidad relacionadas. Conclusión: el SD es una de las cromosomopatías más común en nuestro medio, la cual se puede diagnósticar de forma temprana. Sin embargo en nuestro estudio se pudo evidenciar que pese a la alta cobertura de CPN la frecuencia del diagnóstico antenatal es menor, lo cual requiere que estos controles sean realizados por personal médico entrenado en pacientes con este tipo de patología. Esto finalmente se va a ver reflejado en una mejor aceptación por parte de la familia hacia la llegada de un hijo con esta condición y por supuesto, mejor acceso a servicios de salud especializados.
Abstract The adaptation of specialized care for newborns with Down syndrome (DS) requires recognition of its characteristics at the local level. Goal: to characterize newborns diagnosed with DS and their mothers in maternal and child care units in the city of Medellín. Also, explore the factors associated with timely prenatal diagnosis. Methods: observational, cross-sectional study, based on medical records of newborns diagnosed with DS in seven institutions in Medellín, Antioquia between January 2015 and December 2019, taking into account both maternal and neonatal variables. Initially, a univariate analysis was performed using absolute and relative frequencies, then a bivariate analysis was performed taking into account neonatal outcomes according to access to prenatal care and the time at which the diagnosis was made (prenatal or neonatal), and finally a multivariate analysis for late neonatal diagnosis. Results: 50.2% of the mothers at the time of delivery were 35 years old or younger, of these 59.9% belonged to the contributory regime and 83.4% had 4 prenatal check-ups or more, despite this, it was found that only 33.7% had a prenatal diagnosis of DS. The majority (91.4%) of the neonates had a diagnosis of congenital heart disease and the prolonged hospital stay was related to related morbidity. Conclusion: DS is one of the most common chromosomal abnormalities in our environment, which can be diagnosed early. However, in our study it was possible to show that despite the high coverage of prenatal controls, the frequency of antenatal diagnosis is lower, which requires that these controls be carried out by medical personnel trained in patients with this type of pathology. This will finally be reflected in a better acceptance by the family towards the arrival of a child with this condition and, of course, better access to specialized health services.
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Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans. Diagnosis is typically based on clinical examination, skeletal radiographs, and histochemical tests in blood cells or fibroblasts. It is characterized by evident skeletal deformities, poor joint mobility, severe growth deficit, occlusal anomalies, and enamel defects. The aim of the present clinical case report is to describe the general oral management provided to a 6-year-old female patient and its corresponding evolution for more than three years.
RESUMEN
The aim of the present article is to review the etiological risk factors and the general and oral management of anterior disc displacement with reduction caused by a chin trauma, and to describe the diagnostic process and the treatment provided to an affected 7-year-old girl. The patient also experienced frequent and severe cephaleas, which may be related to cervical vertebrae deviation. The patient was successfully treated with an intraoral occlusal splint and analgesics. Pediatric dentists must always be aware of the early signs and symptoms of temporomandibular joint disorders in their patients, especially in cases of orofacial trauma history, with the aim of providing an opportune resolution and preventing its progression later in life. Occlusal splints are strongly recommended for the treatment of anterior disc displacement with reduction in children and adolescents.
