Asunto(s)
Proteínas de Homeodominio/genética , Hipoventilación/genética , Mutación , Péptidos/genética , Trastornos Intrínsecos del Sueño/genética , Factores de Transcripción/genética , Alelos , Secuencia de Aminoácidos , Secuencia de Bases , Clonación Molecular , Análisis Mutacional de ADN , Expansión de las Repeticiones de ADN , Secuencia Rica en GC , Heterocigoto , Humanos , Hipoventilación/congénito , Hipoventilación/diagnóstico , Recién Nacido , Datos de Secuencia Molecular , Fenotipo , Reacción en Cadena de la Polimerasa , Trastornos Intrínsecos del Sueño/congénito , Trastornos Intrínsecos del Sueño/diagnóstico , SíndromeRESUMEN
A rare case of congenital atresia of the portal vein and ductus venosus, extrahepatic portocaval shunt, benign neonatal hemangiomatosis, congenital adrenal hyperplasia, and an atrial septal defect is reported. Twenty-two cases of congenital extrahepatic end-to-side shunts have been described before. Although additional anomalies are common in this type of shunt, hemangiomatosis has been described only once. Adrenal hyperplasia has never been reported in this anomaly.
Asunto(s)
Anomalías Múltiples , Hiperplasia Suprarrenal Congénita/complicaciones , Defectos del Tabique Interatrial/complicaciones , Hemangioma/congénito , Neoplasias Primarias Múltiples/congénito , Vena Porta/anomalías , Neoplasias Cutáneas/congénito , Vena Cava Inferior/anomalías , Adulto , Femenino , Humanos , Recién Nacido , Ictericia Neonatal/etiología , EmbarazoRESUMEN
Thrombosis of the great vessels, and especially of the aorta, is rare in neonates. We report a case with thrombosis of the ascending aorta, aortic arch, brachiocephalic trunk and subclavian artery. Clinically, severe heart failure occurred on the 1st day of life and the diagnosis was confirmed by echocardiography and cardiac catheterization, including angiocardiography. Left ventricular function was found to be extremely depressed. An infusion with prostaglandin E1 was initiated in order to improve the systemic circulation by dilating the arterial duct. The infant died of neurological complications prior to surgery.
Asunto(s)
Enfermedades de la Aorta/complicaciones , Enfermedad Coronaria/complicaciones , Trombosis Coronaria/complicaciones , Insuficiencia Cardíaca/etiología , Aorta/patología , Enfermedades de la Aorta/patología , Cateterismo Cardíaco , Trombosis Coronaria/patología , Humanos , Recién NacidoRESUMEN
The accuracy of indirect oscillometric blood pressure measurements has been evaluated in 32 infants up to 11 months of age undergoing heart surgery. In a number of 1029 simultaneous measurements the indirect blood pressure was compared with the direct value obtained from a radial artery catheter. Cuffs of different sizes were applied. The main results were as follows: Regarding the ratio of cuff width to arm circumference, the best correlation between oscillometric and direct blood pressure measurements was obtained with a ratio of 0.38-0.41. The value of indirect blood pressure measurements depends on the absolute height of the blood pressure. In low blood pressure there is a tendency to underestimate and in high blood pressure there is a tendency to overestimate by the oscillometric blood pressure measurement. By applying an appropriate cuff size and by using our diagrams it should be possible to derive a direct value for the blood pressure on the basis of indirect oscillometric blood pressure measurements.
Asunto(s)
Determinación de la Presión Sanguínea/métodos , Cardiopatías Congénitas/cirugía , Presión Sanguínea , Cardiopatías Congénitas/fisiopatología , Humanos , Lactante , Recién Nacido , Oscilometría , Cuidados Posoperatorios/métodosRESUMEN
In a case report the main features of the PFC-syndrome (persistent fetal circulation) are demonstrated: 1. general central cyanosis, 2. pulmonary hypertension, 3. right-to-left shunting via foramen ovale and (or) ductus arteriosus. At postmortem analysis in some of these patients the muscular thickness of the pulmonary vessels was found to be increased: primary PFC-syndrome. Hypoxia, shock, and many pulmonary disturbances of the newborn can produce the clinical picture of "persistent fetal circulation": secondary PFC-syndrome. Under adequate therapy with O2-insufflation, vasodilatory drugs, and if necessary mechanical ventilation the prognosis in the majority of cases is good.
Asunto(s)
Síndrome de Circulación Fetal Persistente/diagnóstico por imagen , Cianosis , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Masculino , Síndrome de Circulación Fetal Persistente/etiología , Síndrome de Circulación Fetal Persistente/cirugía , Embarazo , RadiografíaRESUMEN
Three infants with preductal coartation, tubular hypoplasia of the aortic arch, and VSD were treated with Prostaglandin E1 (PGE1)-infusion to dilate the ductus arteriosus Botalli. Before PGE1-therapy the infants were treated with Furosemide and Digitalis, but they remained oliguric or anuric. During PGE1-infusion the pressure in the descending aorta rose and urine output increased significantly. Obviously the blood flow into the descending aorta via the ductus arteriosus was improved during PGE1-infusion. In all three cases surgery was successfull after PGE1-therapy. Before PGE1-therapy of preductal coarctation the diagnosis should be clear and also classical therapy with Furosemide and Digitalis should be tried.