RESUMEN
Congenital contractural arachnodactyly (CCA) is an inherited disorder of connective tissue. The most characteristic features are arachnodactyly, multiple congenital contractures, dolichostenomelia, deformed external ears, kyphoscoliosis and camptodactyly. We report a case of CCA diagnosed at birth.
Asunto(s)
Equilibrio Ácido-Base , Análisis de los Gases de la Sangre , Hernias Diafragmáticas Congénitas , Acidosis Respiratoria/complicaciones , Hernia Diafragmática/clasificación , Hernia Diafragmática/complicaciones , Hernia Diafragmática/diagnóstico , Hernia Diafragmática/mortalidad , Hernia Diafragmática/terapia , Humanos , Recién Nacido , Terapia por Inhalación de Oxígeno , PronósticoRESUMEN
In 20 newborns with congenital diaphragmatic hernia the state of the pulmonary function was studied through the blood gas values (PO2 and PCO2 on breathing air and 100% oxygen spontaneously or with mechanical ventilation). The group of survivors presented a normal or slightly altered pulmonary function, whilst in the group that died the pulmonary function was severely altered. Up to now, and in accordance with the results obtained, none of the proposed hypothesis (pulmonary atelectasis, extra-pulmonary right-to-left shunt, pulmonary hypoplasia) explain this alteration in a satisfactory manner. From the prognostic point of view, if the levels of gases are spontaneously normal or with administration of oxygen and/or assisted, ventilation a level of PO2 higher than 230 and of PCO2 lower than 70 is obtained, prognosis is excellent. If these levels are not obtained the prognosis is nearly always fatal and the value of the intervention questionable.
Asunto(s)
Hernias Diafragmáticas Congénitas , Enfermedades del Recién Nacido/fisiopatología , Análisis de los Gases de la Sangre , Femenino , Hernia Diafragmática/diagnóstico , Hernia Diafragmática/fisiopatología , Humanos , Recién Nacido , Pulmón/fisiopatología , Masculino , Presión Parcial , Terapia RespiratoriaRESUMEN
We describe two brothers with marked leucopenia, lymphopenia, no immunologicl response to infections (no Ig production, negative PHA response and very low number of T and B lymphocytes in peripheral blood) and hypocellular marrow. They died at 12 and 8 days of life with infection (E. coli and Klebsiella, respectively).
Asunto(s)
Síndromes de Inmunodeficiencia/genética , Enfermedades del Recién Nacido/genética , Leucopenia/genética , Médula Ósea/patología , Humanos , Síndromes de Inmunodeficiencia/patología , Recién Nacido , Tejido Linfoide/patología , MasculinoRESUMEN
The treatment of hydrops fetalis, a critical state of extravascular fluid overload in the newborn, poses a great medical challenge. The aim of this study was to investigate the use of continuous arteriovenous hemofiltration (CAVH) in the treatment of five critically ill newborns with hydrops fetalis of different etiology. All patients had anasarca, oliguria not responsive to diuretics, were on mechanical ventilation, and were treated with inotropic drugs and sedation. The duration of treatment ranged from 42 to 114 h and all patients, except one who died from congenital heart disease, achieved the clinical goals of weight loss and restoration of diuresis. Regular clinical and neurological follow-up to the age of 2 years was normal for the four surviving patients. In conclusion, CAVH appears to be a safe treatment of fluid overload in newborns with hydrops fetalis.
Asunto(s)
Hemofiltración , Hidropesía Fetal/terapia , Peso Corporal , Femenino , Hemofiltración/efectos adversos , Humanos , Hidropesía Fetal/fisiopatología , Hipotensión/etiología , Recién Nacido , Masculino , Monitoreo Fisiológico , Factores de Tiempo , Resultado del Tratamiento , Equilibrio HidroelectrolíticoRESUMEN
A newborn infant who presented with heart failure was diagnosed to have an aneurysm of the vein of Galen. Skull radiographs and CT scan demonstrated multiple periventricular calcifications. This case illustrates a new diagnostic possibility for the radiologic finding of periventricular calcifications in the newborn. It also establishes the importance of performing good skull roentgenographic series in all neonates with unexplained heart failure.
Asunto(s)
Calcinosis/complicaciones , Ventrículos Cerebrales , Malformaciones Arteriovenosas Intracraneales/complicaciones , Calcinosis/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Radiografía , Cráneo/diagnóstico por imagenRESUMEN
The development of the paroxysmal trace was studied in 13 full term neonates having presented with severe neonatal anoxia. The paroxysmal tracings according to the definition given by by Monod and Dreyfus-Brisac changed between the 10th and 15th days, the bursts of waves being more polymorphic and closer together but the paroxysmal component persisted. Further groups of anterior slow waves symmetrical and limited to the mid temporal region appeared. These patterns disappeared between the 2nd and 3rd month to make way for generalised spikes and resembling hypsarrhythmia beyond the third month.
Asunto(s)
Electroencefalografía , Hipoxia Encefálica/fisiopatología , Enfermedades del Recién Nacido/fisiopatología , Factores de Edad , Humanos , Recién NacidoRESUMEN
Ultra-Levura (Upsamedica, Spain) is a yeast (Saccharomyces boulardii) widely used as a biotherapeutic agent. To date, few adverse effects have been reported, although fungemia with Saccharomyces cerevisiae can occur in weak and immunosuppressed patients. Reported here are two cases of fungemia with Saccharomyces cerevisiae. One patient had been treated with Ultra-Levura and the other contracted the infection from the first. This is the first report of infection with Saccharomyces boulardii (Saccharomyces cerevisiae) in a patient who was not being treated with the agent.