Frecuencia y presentación clínica de los defectos oculares congénitos en Asturias (1990–2004) / Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990–2004

Introducción: Los defectos oculares congénitos (DOC) pueden originar importante discapacidad. Objetivo: El objetivo de este estudio fue conocer la prevalencia total de los DOC en Asturias, su tendencia y realizar una descripción de su forma de presentación. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias (RDCA) de los años 1990–2004. La población estudiada fueron los 103.452 nacidos de madres residentes en Asturias en este periodo. Se calcularon las tasas de prevalencia total. Resultados: De los 3.035 casos con defectos congénitos registrados durante los 15 años estudiados, 70 tenían un DOC. La prevalencia total media fue de 6,8 por 10.000 nacidos, con una tendencia estable. Los más frecuentes fueron: las cataratas congénitas (2,0 por 10.000 nacidos vivos), la anoftalmia/microftalmia (1,4 por 10.000 nacidos vivos) y los colobomas (1,3 por 10.000 nacidos vivos). El 40 % de los DOC se presentaron de forma aislada, 37% pertenecían a un síndrome y 23% se asociaban a otras anomalías congénitas no sindrómicas. Conclusiones: La prevalencia total de los DOC durante este periodo en Asturias fue estable siendo las cataratas congénitas el DOC más frecuente. Más de la mitad de los DOC, en especial la anoftalmia/microftalmia se asociaron a otras malformaciones congénitas (AU)

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 (AU)

[Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990-2004]. / 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.

Epidemiología de las cardiopatías congénitas en Asturias durante el período 1990–2004 / The epidemiology of congenital heart disease in Asturias (Spain) during the period 1990–2004

Introducción: Las cardiopatías congénitas (CC) son los defectos congénitos (DC) más comunes. Objetivo: Conocer la prevalencia total de las CC en Asturias y su tendencia y realizar una descripción de las anomalías asociadas y los síndromes o las secuencias. Material y métodos: Análisis de los datos del Registro de DC de Asturias de los años 1990–2004. La población estudio fueron los 103.452 nacidos de madres residentes en Asturias en ese período. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: De los 3.035 casos con DC registrados durante los 15 años estudiados, 778 tenían una CC. La prevalencia total media fue de 75,2 por 10.000 nacidos, con una tendencia ascendente. Las más frecuentes fueron la comunicación interventricular (28,8 por cada 10.000 nacidos vivos), los defectos del septo auricular (10,3 por cada 10.000 nacidos vivos) y la persistencia del ductus arterioso (6,0 por cada 10.000 nacidos vivos). El 73,6% de las CC se presentó de forma aislada, el 12,5% asociadas a otras anomalías congénitas y el 14% pertenecía a un síndrome o a una secuencia. El diagnóstico prenatal fue del 7,3% (del 3,8% en los casos aislados). Conclusiones: La prevalencia total de las CC en Asturias durante este período fue similar a la de otros registros europeos. El aparente incremento de la prevalencia se debió a un mayor diagnóstico de los defectos menores, mientras que las CC más graves mantuvieron una frecuencia estable. El diagnóstico prenatal de las CC en Asturias fue inferior al de otros registros europeos (AU)

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 wers 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 10000 births, with an upward trend during this period. The most common CHDs were: ventricular septal defects (28.8 per 10000 births), atrial septal defects (10.3 per 10000 births) and patent ductus arteriosus (6.0 per 10000 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 (AU)

[The epidemiology of congenital heart disease in Asturias (Spain) during the period 1990-2004]. / 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.

[Limb reduction defects in Asturias (1986-1997): prevalence and clinical presentation]. / Defectos de reducción de extremidades en Asturias, 1986-1997: prevalencia y presentación clínica.

AIM: To determine the prevalence and clinical presentation of limb reduction defects in Asturias (Spain). PATIENTS AND METHODS: Among the 92300 newborns, stillbirths and induced abortions for congenital defects surveyed by the Registry of Congenital Defects in Asturias (population-based registry) during 1986-1997, we studied the children with limb reduction defects. Frequency is expressed as total prevalence per 10000 births. RESULTS: Seventy-three children with limb reduction defects were identified, with a total prevalence of 8 per 10000 births (CI 6.2-9.8): upper limbs were affected in 65.7%, lower limbs in 23.3% and both upper and lower limbs were affected in 11%. Transverse terminal defects were present in 49.3%, and were intercalary in 16.4%, preaxial longitudinal in 8.2%, postaxial longitudinal in 9.6%, split hand/foot in 9.6% and multiple in 6.8%. Limb deficiencies were found in 52%; of these, 48% were associated with other congenital defects. Four had chromosomal anomalies and 20 were syndromes. 31% had low birth weight for their gestational age. Alcohol exposure during pregnancy was recorded in three mothers. CONCLUSIONS: A detailed study of limb reduction defects could lead to a better understanding of clinical presentation and to an etio-pathogenic diagnosis to control risk factors.

Defectos de reducción de extremidades en Asturias, 1986-1997: prevalencia y presentación clínica / Limb reduction defects in asturias (1986-1997): prevalence and clinical presentation

OBJETIVO: Conocer la prevalencia y forma de presentación clínica de los defectos por reducción de extremidades en la población asturiana. PACIENTES Y MÉTODOS: Estudio de niños con defectos de reducción de extremidades entre los 91.300 nacidos vivos, nacidos muertos mayores de 500 g y abortos inducidos por defectos congénitos, de mujeres residentes en Asturias, controlados por el Registro de Defectos Congénitos de Asturias (registro de base poblacional) en el período 1986-1997. La frecuencia se expresa como prevalencia total por 10.000 nacidos. RESULTADOS: Durante el período estudiado, se registraron 73 casos, siendo la prevalencia total de 8 por 10.000 (intervalo de confianza del 95 por ciento, 6,2-9,8). El 65,7 por ciento de las anomalías observadas afectaban a las extremidades superiores, el 23,3 por ciento a las inferiores y el 11 por ciento a ambas. El 49,3 por ciento presentaba un defecto terminal transverso, el 16,4 por ciento un defecto intercalar, el 8,2 por ciento longitudinal preaxial, el 9,6 por ciento longitudinal postaxial, el 9,6 por ciento mano o pie hendido, y en el 6,8 por ciento el defecto era múltiple. El 52 por ciento eran formas aisladas y el 48 por ciento se manifestaron como defecto asociado a otras malformaciones. En 4 existía alteración cromosómica, y en 20 la reducción de extremidades formaba parte de un síndrome, asociación o secuencia definida. El 31,5 por ciento presentaba bajo peso para la edad de gestación. En tres madres se constató ingestión importante de alcohol. CONCLUSIÓN: El estudio detallado de los defectos congénitos por reducción de extremidades permite un mejor conocimiento de sus formas clínicas de presentación, además de acercarnos a un diagnóstico etiopatogénico, con posibilidad de actuar sobre los factores de riesgo (AU)

[Prevalence of Down's syndrome in Asturias, 1987-1993. Members of the Work Group of the RCDA]. / Prevalencia del síndrome de Down en Asturias, 1987-1993. Miembros del grupo de Trabajo del RDCA.

OBJECTIVE: To determine the frequency of Down Syndrome (DS) in Asturias and the prenatal diagnosis impact on the birth prevalence of this chromosomal anomaly. METHODS: The analysed data came from the Registry of Congenital Defects of Asturias (1990-1993) and from a retrospective study conducted by the same working group (1987-1989). The total prevalence rates and the prevalence at birth were calculated. RESULTS: Out of 55,601 births, DS was recorded in 83 cases: 69 livebirths, two fetal deaths and 12 induced abortions following prenatal diagnosis, giving a total prevalence rate of 14.9 per 10,000 and a birth prevalence of 12.8. The proportion of induced abortions was 15 per cent in this period; the proportion of cases in the high risk maternal age group (35 years and over) was around 50% of the total. The proportion of induced abortions was 15 per cent in this period. CONCLUSIONS: The frequency of DS in Asturias is comparable to the other populations. Prenatal diagnosis had little impact on the birth prevalence figures. These results may help us draw up prevention and prenatal diagnosis policies for these defects in Asturias when giving the frequency of this health problem.

[Effects of the use of cranial radiotherapy. Findings obtained by computerized axial tomography and intellectual function tests]. / Efectos del empleo de la radioterapia craneal. Hallazgos en la tomografía axial computerizada y función intelectual.

Authors report their brain computerized axial tomography findings (CAT) and intellectual performance, in fourteen children treated with cranial radiotherapy either as part of conventional prophylaxis with intrathecal methotrexate use in malignant lymphoproliferative processes or as treatment for a primitive cerebral tumor. They comment on myelinating leukoencephalopathy and neuropsychologic sequelae that can appear.

[Congenital cystic adenomatoid malformation of the lung with systemic circulation (author's transl)]. / Malformación adenomatoidea quística pulmonar congénita con circulación sistémica.

A new observation of CCAML which systemic circulation is presented. At this occasion authors update literature review published in 1973. The total number of cases reported is 78 which our case has to be added. The existence of a systemic artery has only been demonstrated previously in three patients.