RESUMEN
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.
Asunto(s)
Anomalías Múltiples/genética , Hipoplasia del Esmalte Dental/genética , Cara/anomalías , Iris/anomalías , Microftalmía/genética , Sindactilia/genética , Anomalías Múltiples/clasificación , Anomalías Múltiples/diagnóstico , Adulto , Hipoplasia del Esmalte Dental/clasificación , Hipoplasia del Esmalte Dental/diagnóstico , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Microftalmía/clasificación , Microftalmía/diagnóstico , Persona de Mediana Edad , Fenotipo , Sindactilia/clasificación , Sindactilia/diagnóstico , SíndromeRESUMEN
OBJECTIVE: To study the effects of administration of surfactant immediately after birth (prophylactic) or after 6 hr (therapeutic) to 81 Dutch preterm infants from a multicentre trial. SETTING: University Hospital Leiden and Sint Joseph Hospital, Veldhoven. DESIGN: A randomized controlled trial with stratification for biochemical lung (im)maturity. The aims of the study were (I): to improve the TcPO2/FiO2 ratio by 40% and (2) to prevent the respiratory distress syndrome by 50% at 6 hours after birth. The secondary goal was to compare effects of prophylactic versus therapeutic use of exogenous surfactant (from 6 hours onwards) in surfactant-deficient infants. PATIENTS: The entrance criteria of the study were: (I) inborn children with a gestational age between 26 and 30 weeks, (2) elective intubation and (3) sampling of bronchotracheal or gastric aspirate. After randomization the children received surfactant within 10 minutes after birth prophylactically (n = 42) or 6 hours after birth if they needed more than 60% oxygen (13 of 39 control infants). A second dose of surfactant was given if, at 6 hours after the first dose, the FiO2 was still high (> or = 0.6). TREATMENT: We used a natural porcine surfactant preparation (Curosurf) in a dose of 200 mg/kg given through the endotracheal tube. RESULTS: The mean gestational age of the 81 infants was 28.2 weeks. The TcPO2/FiO2 ratios increased in the prophylactic group compared with the controls (38 versus 30 kPa; p < 0.05). RDS occurred less often and less severely in the prophylactic group (p < 0.05). Neonatal mortality was lower in the prophylactically treated infants (3/42) than in the control group (10/39; p < 0.05). Compared with the control infants with immature lungs, the immature prophylactically treated infants had six hours after birth higher TcPO2/FiO2 ratios (35 vs 13 kPa; p < 0.001), a 35% reduction of the incidence of RDS with a significant reduction of its severity (p < 0.05), and significantly lower mean airway pressures (0.87 versus 1.24 kPa; p < 0.005). The surfactant given 6 hours after birth to the immature controls resulted in an immediate improvement of the oxygenation. Nevertheless, these infants spent more time on the respirator and needed extra oxygen for longer periods than the immature infants prophylactically treated (p < 0.05). CONCLUSION: Surfactant, given either prophylactically or therapeutically, results in clinical improvement of children with biochemically immature lungs. A prophylactic treatment, moreover, results in reduced incidence and severity of RDS, in a significant shortening of the time spent on the respirator and in reduced need of extra oxygen compared with therapeutic treatment. We recommend to give surfactant prophylactically or at the first signs of RDS.
Asunto(s)
Surfactantes Pulmonares/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Instilación de Medicamentos , Fosfatidilcolinas/análisis , Surfactantes Pulmonares/administración & dosificación , Esfingomielinas/análisis , TráqueaRESUMEN
We studied, in vitro, different commercially available components for pneumothorax drainage, i.e. drainage tubes, Heimlich flutter valve and vacuum control units. The drainage of a pneumothorax by a drainage tube was, as expected, directly dependent on Poiseuille's law and was influenced more by diameter than length. Of practical importance, a size 6 French gauge tube, used for the very small newborn, may not efficiently evacuate a pneumothorax due to a large air leak. The Heimlich flutter valve, though useful clinically, adds to the resistance of the system especially if fluids accumulate in the valve. All vacuum control units, adaptations of the basic three- or four-bottle pleural drainage system, functioned adequately but simple changes in construction may increase the safety of some of these systems.
Asunto(s)
Drenaje/métodos , Neumotórax/terapia , Humanos , Recién NacidoRESUMEN
The histories of two Moroccan sisters with pulmonary alveolar microlithiasis are described. Two years follow-up is available. The elder girl has no complaints, her two years younger sister becomes dyspnoeic on exercise. Pulmonary alveolar microlithiasis is a rare condition, which occurs mostly as a familiary disease. On pathologic examination characteristic calcifications are found in the alveoli. The radiographic picture of the chest is quite typical. A short review of the literature is presented.