RESUMEN
We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.
Asunto(s)
Anomalías Múltiples/patología , Craneosinostosis/patología , Holoprosencefalia/patología , Anomalías Múltiples/genética , Diagnóstico Diferencial , Femenino , Deformidades Congénitas de la Mano/patología , Humanos , Recién Nacido , SíndromeRESUMEN
OBJECTIVE: The administration of recombinant human erythropoietin (rHuEPO), started after the first 2 weeks of life, reduces the transfusion requirement in premature infants. However, its use throughout the first 2 weeks of life, when anemia results predominantly from phlebotomy losses, remains controversial. We investigated whether early use of rHuEPO would reduce the total transfusion requirement and/or the number of transfusions throughout the first 2 weeks of life. METHODS: We randomized 114 infants with birth weight (BW) <1250 g to receive rHuEPO (1250 units/kg/week; IV; early group: n = 57) or placebo (late group: n = 57) from day 2 to day 14 of life; subsequently, all the patients received rHuEPO (750 units/kg/week, subcutaneously) for 6 additional weeks. All infants were given oral iron (6 mg/kg/day) and folic acid (2 mg/day). RESULTS: The early group showed higher hematocrit and reticulocyte counts than the late group in the first 3 weeks of life, but there was no difference in the total number of transfusions (early: 1.8 +/- 2.3 vs late: 1.8 +/- 2.5 transfusion/patient) or the transfusion requirement throughout the first 2 weeks of life (early:.8 +/- 1.1 vs late:.9 +/- 1.3) could be demonstrated. In infants with BW <800 g and total phlebotomy losses >30 mL/kg (n = 29), a lower number of transfusions was received by infants in the early group, compared with late group, from the second week to the end of the treatment (early: 3.4 +/- 1.1 vs late: 5.4 +/- 3.7 transfusion/patient). No clinical adverse effects were observed. Thrombocytosis was detected during the treatment with rHuEPO in 31% of the infants. CONCLUSIONS: In the whole population, the early administration of rHuEPO induced a rise of reticulocyte counts, but not enough to reduce the transfusion requirement. The most severely ill infants (BW <800 g and phlebotomy losses >30 mL/kg) seemed to benefit from early use of rHuEPO, and this deserves additional study.
Asunto(s)
Anemia Neonatal/prevención & control , Transfusión Sanguínea/estadística & datos numéricos , Eritropoyetina/administración & dosificación , Enfermedades del Prematuro/prevención & control , Anemia Neonatal/sangre , Humanos , Recién Nacido , Enfermedades del Prematuro/sangre , Hierro/uso terapéutico , Proteínas Recombinantes , Factores de TiempoRESUMEN
Se presenta un recién nacido con Pentalogía de Cantrell y onfalocele gigante tratado inicialmente con apósitos secos y compresión externa con faja de Velcro (método propuesto De Luca) con excelente resultado. La experiencia en este caso complejo por las malformaciones asociadas, nos permite adherir al concepto que la comprensión externa de un onfalocele gigante usando un apósito seco estéril efectivo, económico y de bajo riesgo para el tratamiento inicial del onfalocele gigante y debe ser tenido en cuenta en todos los casos de onfaloceles gigantes
Asunto(s)
Hernia UmbilicalRESUMEN
Se presenta un recién nacido con Pentalogía de Cantrell y onfalocele gigante tratado inicialmente con apósitos secos y compresión externa con faja de Velcro (método propuesto De Luca) con excelente resultado. La experiencia en este caso complejo por las malformaciones asociadas, nos permite adherir al concepto que la comprensión externa de un onfalocele gigante usando un apósito seco estéril efectivo, económico y de bajo riesgo para el tratamiento inicial del onfalocele gigante y debe ser tenido en cuenta en todos los casos de onfaloceles gigantes
Asunto(s)
Hernia UmbilicalRESUMEN
We report on a case of Fryns' syndrome diagnosed prenatally in a woman with no family history of this disorder. A computerized database was used for the differential diagnosis. Intensive perinatal care resulted in prolonged survival, which is unusual in individuals with Fryns' syndrome. This case provides further delineation of the developmental course in patients with this condition.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Hernia Diafragmática/diagnóstico por imagen , Ultrasonografía Prenatal , Corticoesteroides/uso terapéutico , Adulto , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Femenino , Dedos/anomalías , Deformidades Congénitas del Pie , Humanos , Recién Nacido , Masculino , Embarazo , SíndromeRESUMEN
The administration of oxygen to infants via nasal cannulas is now a common practice in neonatal units although the inspired oxygen concentration reaching the patient's airway is unknown. We measured the hypopharyngeal oxygen concentration in 10 infants who were receiving oxygen via nasal cannulas and assessed the impact of changes in the flow rate and inspired oxygen concentration. Weaning these infants by reducing the flow rate, even if changes are slight, produces clinically important changes in the oxygen concentration reaching the airway. Such changes are poorly tolerated by infants with chronic lung disease. Changing the flow rate and inspired oxygen concentration, rather than the flow rate alone, provides greater precision and is likely to avoid excessive and abrupt changes in the oxygen concentration reaching the airway.