E. García López

Epidemiología de las fisuras labiales y palatinas durante los años 1990–2004 en Asturias

INTRODUCTION Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.

Epidemiología de las cardiopatías congénitas en Asturias durante el período 1990–2004

INTRODUCTION Congenital heart diseases (CHDs) are the most common type of birth defect. OBJECTIVE The purpose of this investigation was to assess the prevalence and trends of CHDs, and to describe the associated malformations and syndromes or sequences in a geographically defined population. MATERIAL AND METHODS Data were collected from the Asturias Registry of Congenital Defects. The period studied was from 1990 to 2004, and the study population was the 103,452 births of mothers living in the region. Total prevalence and birth prevalence were calculated. RESULTS A total of 3035 cases with congenital defects were recorded, of these 778 had CHDs. The total prevalence was 75.2 per 10,000 births, with an upward trend during this period. The most common CHDs were: ventricular septal defects (28.8 per 10,000 births), atrial septal defects (10.3 per 10,000 births) and patent ductus arteriosus (6.0 per 10,000 births). A total of 73.6% of CHDs occurred as isolated defects, 12.5% with other congenital defects and 14% were syndromes or sequences. Prenatal diagnosis was effective in only 7.3% (3.8% in isolated cases). CONCLUSIONS The prevalence of CHDs in Asturias over this period falls within the range reported for other European registries. The apparent increase in prevalence of CHD results mainly from improved diagnosis of minor defects, but there has been no change over time in birth prevalence of more serious defects.

Filariasis ocular por Loa loa. ¿Parasitosis tropical emergente en Europa?

168 An Pediatr (Barc). 2006;65(2):166-74 y los 3 meses, pueden ser asintomáticas o presentar hepatoesplenomegalia, linfopenia, neutropenia, trombocitopenia, elevación de las transaminasas, neumonitis o afectación multisistémica2. Nuestro paciente presentaba una neumonitis y una colestasis que a pesar del tratamiento no mejoraba, en este contexto se realiza una determinación de CMV en orina que es positiva, por lo que esta infección perinatal podría estar produciendo o agravando el cuadro clínico; nos plateamos tratar la infección por CMV, con cierta cautela debido a los efectos secundarios del Ganciclovir. Ávila-Agüero et al3 encuentran el 80% de efectividad en el tratamiento con ganciclovir. Después de 23 días con tratamiento con ganciclovir, se produjo una mejoría clínica y analítica, presentando una disminución de la asistencia respiratoria, una disminución de los valores de bilirrubina y una negativización del CMV en orina. En nuestro Hospital las transfusiones de concentrado de hematíes en el grupo de RNEBP se testan para CMV transfundiendo sangre CMV negativa y se utilizan filtros desleucocitadores de 4.a generación. Se recomiendan una serie de medidas en prematuros que van a necesitar transfusiones a lo largo de su ingreso como son: disminuir al máximo las transfusiones, limitar el número de donantes por cada niño, utilizar sangre CMV negativa, filtros desleucocitadores o hemoderivados irradiados. La detección del virus por PCR en la leche materna fue negativa y la serología materna mostró una seroconversión a CMV. Hamprecht et al4 consideran indicador de reactivación el ADN viral incluso con virología negativa en el suero lácteo, hay un índice de trasmisión madre-hijo del 37%, además observan que las madres seropositivas en un 96% tenían ADN-CMV en su leche en algún momento. Hay diferentes porcentajes de trasmisión por la leche materna en la literatura especializada5,6. La trasmisión disminuye congelando la leche a –20 °C7. En nuestra experiencia el tratamiento con ganciclovir en RNMBP con infección por CMV se debe individualizar ya que existe posibilidad de beneficio para el paciente.

Frecuencia y presentación clínica de los defectos oculares congénitos en Asturias (1990–2004)

INTRODUCTION Congenital ocular anomalies (COAs) can produce serious disability. OBJECTIVE The purpose of this investigation was to assess the prevalence of COAs, their trends and to describe the associated malformations and syndromes in a geographically defined population. METHOD Data from the Asturias Registry of Congenital Defects were used. The period studied was from 1990 to 2004 and the study population the 103,452 births of mothers living in the region. Total prevalence was calculated. RESULTS A total of 3035 cases with congenital defects were recorded, of these 70 had COAs. The total prevalence was 6.8 per 10000 births, with a stable trend during this period. The most common COAs were: congenital cataract (2.0 per 10000 births), anophthalmos/microphthalmos (1.4 per 10000 births) and coloboma (1.3 per 10000 births). 40% of COAs occurred as isolated defects, 37% were syndromes and 23% were associated with other congenital defects. CONCLUSIONS The prevalence of COAs in Asturias over this period had a stable trend and the congenital cataract was the commonest COAs. COAs, particularly the anophthalmos/microphthalmos were associated with other congenital anomalies.

Periviabilidad: el límite de la prematuridad en un hospital regional de referencia durante los últimos 10 años

AIM To determine the preterm viability between 22 and 25 gestational weeks in our hospital in last 10 years. PATIENTS AND METHODS A descriptive retrospective study was conducted on preterms between 22-25 gestational weeks born between 1-1-2002 and 12-31-2011. RESULTS There were 121 newborns, 45 (37%) stillbirths and 76 (63%) live births (16 died in delivery room, and 60 admitted to neonatal intensive unit). Among the 60 admitted, 34 died before hospital discharge, and 26 survived (21% of total, 34% of live births and 43% of those admitted to neonatal intensive unit). The causes of death were: 16 therapeutic effort limitation in delivery room, 8 therapeutic effort limitation in neonatal ward, 7 nosocomial sepsis, 7 NEC, 4 respiratory problems, and 8 of unknown cause. There were no survivors below 24 gestational weeks. Of the 26 survivors, 4 had major neurological disorders, and 11 with a normal neurological outcome. No significant statistical differences were found in the mortality between the two five-year periods analysed. CONCLUSIONS The peri-viability has important clinical and ethical problems for neonatologist.