Incidencia y características de los pacientes portadores de defectos congénitos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell 2016-2020: 5 años de experiencia / Incidence and characteristics of patients with congenital defects at the Pereira Rossell Hospital's Neonatology Department in 2016-2020: 5 years experience / Incidência e características dos pacientes com defeitos congênitos no Serviço de Neonatologia do Centro Hospitalar Pereira Rossell 2016-2020: 5 anos de experiencia

Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.

Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.

Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.

Factores de riesgo prenatales y su asociación a malformaciones congénitas en un Hospital Universitario de Referencia / Congenital Malformations: New Challenges For Public Health

Introducción: Las malformaciones congénitas constituyen la segunda causa de mortalidad infantil en América del Sur, según datos de la OMS. Objetivo: Determinar la asociación entre los factores de riesgo prenatales y las malformaciones congénitas de pacientes internados en un hospital de referencia. Material y Método: Estudio retrospectivo, analítico de caso-control, corte transversal en pacientes internados desde Octubre 2014 a Octubre 2015 que cumplieron con criterios de inclusión y exclusión como caso; además en pacientes ambulatorios que cumplieron criterios de inclusión y exclusión como control. Con pareo 1:1 por edad y sexo. Instrumento: encuesta estructurada. Tamaño de muestra con variable cualitativa, valor de Z: 1,9, P: 4% (Porcentaje en población general 2 a 5%) de la variable principal, valor de D: 95% y el valor de p de 0,05, resultando N: 60 por grupo. Resultados: Se consideraron 66 casos y 66 controles pareados por edad y sexo; edades comprendidas de 1 mes a 15 años, media de 2 años (DE: +2,63), masculino 61%. Los Casos provenían 41% (27) del Interior del País y los Controles 11% (7). Las malformaciones más frecuentes fueron las del sistema nervioso central 29% (19/66) seguidas de las cardíacas 23% (15/66). El diagnóstico prenatal por ecografía obstétrica se observó en 33% de los casos (21/66). Al realizar regresión logística multivariada se encontró asociación entre malformaciones congénitas y antecedentes de malformaciones en la familia (OR 20,8, 95% CI 2,66- 162,2), antecedente de un hijo previo con síndrome genético (OR 8,84, 95% CI 1,35- 73,86) y falta de suplementación con ácido fólico antes o durante el embarazo (OR 3,44, 95% CI 1,49- 8,33) distancia de la vivienda de campos fumigados menor a 1 km (OR 3,75, 95% CI 0,98- 14,31) y exposición materna directa a plaguicidas(OR 4,51, 95% CI 1,77- 11,46). Conclusión: La falta de suplemento de ácido fólico, el antecedente de malformación congénita en la familia y la exposición materna a agroquímicos tuvieron asociación estadística significativa. Se plantea probable sesgo de la falta de pareo por Procedencia.

Positive correlation between pesticide sales and central nervous system and cardiovascular congenital abnormalities in Brazil.

BACKGROUND: This study investigated the association between pesticide exposure in Brazil (2005-2013) with rates of central nervous system (CNS) and cardiovascular system (CVS) congenital abnormalities in 2014. METHOD: An exposure variable was established from data on production and sales of pesticides (kg) per crop area (ha) for 2012 and 2013 years. The Brazilian states were divided into three categories: high, medium, and low pesticide use and rate ratios were estimated for each group of states (CI: 95 %). RESULTS: In 2013 and 2014, the high use group presented a 100 and a 75 % increase, and the medium group a 65 and 23 % increase, respectively, in the risk of CNS and CVS congenital abnormalities at birth, compared to the low use group. CONCLUSION: These findings suggest that pesticide exposure could be associated with increased risk of congenital malformations at birth in Brazil.

Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.

OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study. MATERIALS AND METHODS: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 ± 4.1 (range 3-19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan). RESULTS: Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects. CONCLUSIONS: Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population.

Determinación del riesgo cardiovascular en la población española / Determining cardiovascular risk in the Spanish population

La medición del riesgo cardiovascular en un mismo grupo de personas del área mediterránea española arroja resultados diferentes según la herramienta que se elija, incluso aunque las herramientas empleadas utilicen los mismos parámetros para determinar el riesgo.

Determinación del riesgo cardiovascular en la población española / Determining cardiovascular risk in the Spanish population

La medición del riesgo cardiovascular en un mismo grupo de personas del área mediterránea española arroja resultados diferentes según la herramienta que se elija, incluso aunque las herramientas empleadas utilicen los mismos parámetros para determinar el riesgo. (AU)

Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.

OBJECTIVE: To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age. STUDY DESIGN: A retrospective review was undertaken of consecutive patients with WS at our institution from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. CVA were diagnosed with the use of echocardiography, cardiac catheterization, or computerized tomographic angiography. Freedom from intervention was determined using Kaplan-Meier analysis. RESULTS: The study group was 129 patients with CVA. Age at presentation was 127 +/- 116 days, with follow-up of 8.0 +/- 7.5 years (0 to 42 years). The most common lesions were peripheral pulmonary artery stenosis (62%) and supravalvar aortic stenosis (57%). Other CVA were common. CV interventions were performed in 29%, with 58% of those before 1 year. Freedom from intervention was 85%, 73%, and 66% at 1, 5, and 25 years, respectively. Four patients died. CONCLUSIONS: CVA are the most common manifestations of infantile Williams syndrome and occur with greater frequency than previously reported. In those with CVA, interventions are common and usually occur by 5 years of age. Most of these patients do not require intervention on long-term follow-up, and overall mortality is low.

Asociación de factores de riesgo coronario en la ancianidad: estudio AFRICA / Association of coronary risk factors in old age: AFRICA study

Se diseñó un estudio epidemiológico transversal multicéntrico, en Argentina, con el objetivo de conocer la prevalencia de las conductas y de los factores de riesgo para la enfermedad coronaria en pacientes de 90 años o mayores, así como conocer la posible agregación de estos factores y observar qué hallazgos estarían asociados con la longevidad. Se encuestó a 322 ancianos de 90 años o más, de los que el 47% tenía familiares longevos. La mayoría consumía frutas, lácteos y verduras y aproximadamente la mitad bebía vino tinto. Predominó un índice de masa corporal normal y realizaban actividad física con regularidad. La diabetes mellitus se asoció con la obesidad. La hipertensión arterial se observó a una edad de comienzo muy alta (72 años). Se halló un escaso porcentaje de fumadores. La agregación de dos factores de riesgo fue poco frecuente, y aun menor que se asociaran tres de ellos. En conclusión, la población de edad muy avanzada en nuestro medio presentaba características que indican que hay a la vez un componente genético y factores ambientales favorecedores de longevidad.

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.

OBJECTIVES: Cardiovascular malformations (CVMs) are reported to be common (approximately 75%) in patients with deletion 22q11.2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM. STUDY DESIGN: After the diagnosis of del22q11 in two unrelated probands with CVM, we sequentially evaluated family members with clinical evaluation and cytogenetic analysis. RESULTS: Del22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in only 6 of 13 (46%) individuals. CONCLUSIONS: We speculate that in the absence of CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for primary care physicians and specialists to familiarize themselves with the extracardiac stigmata of del22q11 to ensure timely diagnosis in all family members.

Detection of cardiovascular abnormalities in the nursery of a general hospital in the Amazon region: correlation with potential risk factors.

Congenital heart diseases have been studied much more extensively in children than in neonates. In this study, we report on the findings from 57 neonates seen from June of 1995 through June 1996 in the nursery of a large public hospital in Belém, Pará, Brazil. All were routinely examined by a paediatrician just after birth, and, when indicated, these babies were referred to the cardiology unit of our Hospital for assessment by a paediatric cardiologist. Most of the diagnoses were made by means of Doppler and cross-sectional echocardiography with color flow mapping. Several abnormalities of the cardiovascular system were diagnosed. The most frequent was patency of the arterial duct. But, since many ducts closed spontaneously, ventricular septal defect was the most frequent lesion seen even in the nursery. Four defects (patent arterial duct, ventricular septal defect, atrial septal defect and pulmonary stenosis) together accounted for two thirds of all cardiac abnormalities. Associated non-cardiac anomalies were more frequent in those with simple lesions within the heart. All the babies with complex heart disease, and the majority of those designated as having significant lesions, died before they could be discharged. Several risk factors were investigated. Among maternal drugs, misoprostol emerged as having a possible teratogenic effect.

Anomalías congénitas como causa de muerte en el primer año de vida: Chile 1996 / Congenital malformations as cause of death in infant: Chile 1996

Las malformaciones congénitas (MC) influyen en la mortalidad infantil (MI). Con el propósito de conocer la importancia de MC en la MI en Chile en 1996, en las Estadísticas Vitales, se revisa las causas de fallecimiento en menores de un año, según Clasificación Internacional de Enfermedades. Hubo una mortalidad infantil de 11,1 por mil, una mortalidad neonatal de 6,3 por mil, una mortalidad neonatal precoz 4,8 por mil. 30,6 por ciento fallecieron por MC, tasa de MI debida a MC es de 3,4 por mil. 50,2 por ciento fallecieron en la primera semana de vida y el 63,3 por ciento antes de 28 días. La mortalidad por MC no difiere por sexos (p > 0,05), la mortalidad es superior en varones en MC del aparato respiratorio y urinario p=0,049 y p=0,0072. Anencefalia, anomalías del aparato respiratorio, urinario, fallecen antes de los siete días de vida (P<0,001). MC más frecuentes: cardiovascular (28,7 por ciento), sistema nervioso (17,5 por ciento). El avance tecnológico ha reducido la MI, reducción adicional en la mortalidad neonatal dependerá del consejo genético y de la prevención de las malformaciones congénitas