Neurobiología del autismo: estudio de genética y neuroquímica / The neurobiology af autism: genetics and neurochemical studies

El autismo es un trastorno generalizado del desarrollo caracterizado por alteraciones en diferentes dominios: interacción social, lenguaje y comunicación, y conducta, con un patrón estereotipado y/o restringido de intereses y actividad. Aunque aún se desconoce mucho sobre la etiopatogenia de esta entidad clinica, los estudios epidemiológicos, familiares y de gemelos han resaltado la importancia de los factores genéticos. Numerosos estudios en las dos últimas décadas indican que el autismo podría estar producido por diferentes alteraciones genéticas que provocarían un desarrollo anormal del cerebro. El objetivo de este trabajo es revisar los hallazgos de los estudios genéticos así como las principales hipótesis acerca de los factores neuroquímicos implicados en la etiología del autismo (AU)

Autism is a neurodevelopmental disorder characterized by impairment in several domains: social interaction, language and comunication, and behavior, with a stereotyped and/or restricted pattern of interests and activities. Although the exact etiology of the disorder is not known, the importance of genetic factors has been highlighted by epidemiological, family and twin studies. Research in the last two decades indicates that autism is largely caused by genetic factors that lead to abnormal brain development.. The aim of this article is review the findings into the genetic studies as well as the main hypothesis about neurochemical factors underlying autism (AU)

Tratamiento conservador no quirúrgico de las perforaciones del esófago torácico / Non-surgical convervative treatment of thoracic esophageal perforations

No disponible

Fístula aortoesofágica por cuerpo extraño con supervivencia postoperatoria y desenlace final fatal / Fatal outcome of surgery for aortoesophageal fistula secondary to foreign body despite postoperative survival

La fístula aortoesofágica es una entidad de muy baja frecuencia, de consecuencias fatales en la mayor parte de las ocasiones. Como causas de la misma encontramos que la más frecuente resulta ser la rotura de un aneurisma aórtico, tras la cual se halla la impactación de un cuerpo extraño en el esófago. Al ser la supervivencia de estos enfermos ínfima, surgen ciertos aspectos que pueden ser tenidos en cuenta a la hora de aumentar aquélla, como el reconocimiento precoz y control de la hemorragia y la rápida intervención quirúrgica utilizando un refuerzo del cierre aórtico mediante un tejido adecuadamente vascularizado (AU)

Interleukin-6 in the cerebrospinal fluid after perinatal asphyxia is related to early and late neurological manifestations.

OBJECTIVES: To investigate if the concentration of interleukin-6 (IL-6) in the cerebrospinal fluid (CSF) is affected by perinatal asphyxia, and to examine the relation of IL-6 levels in the CSF to the severity of hypoxic-ischemic encephalopathy (HIE), to brain damage, and to the neurological outcome. METHODS: Asphyxiated term neonates were included. Cerebrospinal fluid IL-6 was measured by a sensitive enzyme-linked immunosorbent assay. RESULTS: Twenty neonates were studied: 3 had no HIE, 5 had stage 1, 6 had stage 2, and 6 had stage 3. CSF IL-6 levels (8 to 90 hours of life) were higher in neonates with HIE stage 3 (range, 65 to 2250 pg/mL) when compared with neonates with HIE stage 0 to 2 (<2 pg/mL in 12 neonates, 10 pg/mL in 1). According to neuroimaging techniques and/or pathological examination, 14 neonates were normal, and 5 showed signs of brain damage; 1 was not classified. CSF IL-6 levels were significantly higher in neonates with signs of brain damage. Finally, 5 neonates had adverse outcomes (4 died, 1 had cerebral palsy), 2 had mild motor impairment, and 13 had normal outcomes. CSF IL-6 levels were higher in neonates with adverse outcomes (range, 65 to 2250 pg/mL) compared with neonates with favorable outcomes. CONCLUSION: The magnitude of IL-6 response in the CSF after perinatal asphyxia is related to the severity of neonatal HIE, to brain damage, and to the neurological outcome. Our results suggest that IL-6 might play a role in neonatal hypoxic-ischemic brain damage.

[Clinical profile, course and outcome of gastroesophageal reflux in 10 infants under active medical treatment]. / Perfil clínico, curso y evolución del reflujo gastroesofágico en 10 lactantes sometidos a tratamiento médico activo.

We have studied the clinical profile, cause and outcome of 105 infants with the diagnosis of gastroesophageal reflux. In most cases, pharmacological treatment managed to control the symptoms in 9 out of 10 infants followed in our series. Complications were described in 26.2%, of which esophagitis and chronic respiratory disease were the most common. Corrective surgery of the reflux was indicated in those cases in which pharmacological treatment was not successful. This managed to control the reflux in 90% of all cases. Morbidity was scarce. In all, 75% of the infants were considered to be medically cured within 15.5 months from the time that they were diagnosed and within 18.5 months after the appearance of the first symptoms.