Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

BACKGROUND: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes. METHODS: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL. RESULTS: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies. CONCLUSION: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.

Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

BACKGROUND: The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. OBJECTIVE: To identify maternal risk factors for VACTERL in offspring in a large European study. METHODS: A case-control study was performed using data from 28 EUROCAT registries over the period 1997-2015 with case and control ascertainment through hospital records, birth and death certificates, questionnaires, and/or postmortem examinations. Cases were diagnosed with VACTERL, while controls had a genetic syndrome and/or chromosomal abnormality. Data collected included type of birth defect and maternal characteristics, such as age, use of assisted reproductive techniques (ART), and chronic illnesses. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) with 95% confidence intervals (95% CI). RESULTS: The study population consisted of 329 VACTERL cases and 49,724 controls with recognized syndromes or chromosomal abnormality. For couples who conceived through ART, we found an increased risk of VACTERL (aOR 2.3 [95% CI 1.3, 3.9]) in offspring. Pregestational diabetes (aOR 3.1 [95% CI 1.1, 8.6]) and chronic lower obstructive pulmonary diseases (aOR 3.9 [95% CI 2.2, 6.7]) also increased the risk of having a child with VACTERL. Twin pregnancies were not associated with VACTERL (aOR 0.6 [95% CI 0.3, 1.4]). CONCLUSION: We identified several maternal risk factors for VACTERL in offspring befitting a multifactorial etiology.

[Epidemiology of accidents in a cohort of adults over 64 years old in the Autonomous Community of the Basque Country]. / Epidemiología de los accidentes en una cohorte de adultos mayores de 64 años de la Comunidad Autónoma del País Vasco.

INTRODUCTION: Accidents represent a significant health problem for elderly people. The objective of this study was to assess the incidence of accidents in over-64-year-olds in the Basque Country population, and to describe the clinical-epidemiological features leading to them. MATERIAL AND METHODS: This was a prospective cohort study of 15,192 non-institutionalised individuals over 64 years of age, conducted under the auspices of the Basque Sentinel Practice Network (Red Vigía) over one year. A questionnaire was completed for each accident. The rates and risks of accidents were calculated by sex and age group of the individuals who had the accidents. RESULTS: The rates of accidents were 46.52 and 81.87 per 1000 men and women, respectively. The most common type of accident was a fall (92%), and the most severe injuries were fractures (17%), with the risk of an accident being significantly higher in women and in the over-75-year-olds. CONCLUSIONS: These data reflect the scale of accidents in over-64-year-olds in the Basque Country. The most frequent accident was the fall, which represents a dramatic event among the elderly, being one of the main causes of injury, disability and institutionalisation among this population group.

Epidemiología de los accidentes en una cohorte de adultos mayores de 64 años de la Comunidad Autónoma del País Vasco / Epidemiology of accidents in a cohort of adults over 64 years old in the Autonomous Community of the Basque Country

Introducción. Los accidentes son un problema importante de salud para las personas mayores. El objetivo de este estudio ha sido valorar la incidencia de accidentes en la población mayor de 64 años y describir las características que se asocian a la accidentalidad. Material y métodos. Estudio descriptivo de una cohorte de 15.192 personas mayores de 64 años, no institucionalizadas, realizado a través de Red Vigía de la CAPV y durante el periodo de un año. Por cada accidente se realizó una encuesta. Se calcularon las tasas de accidentalidad y los riesgos por grupos de edad y sexo. Resultados. La tasa de accidentalidad fue 46,52 y 81,87 por 1.000 hombres y mujeres, respectivamente. El tipo de accidente más frecuente fue la caída (92%), la lesión más severa la fractura (17%) con un riesgo significativamente superior para las mujeres y los mayores de 75 años. Conclusiones. Los datos presentados confirman la importante dimensión de los accidentes no intencionados en la población mayor de 64 años en la CAPV. El accidente más frecuente ha sido la caída, que constituye un fenómeno de gran transcendencia en los adultos mayores ya que son una de las principales causas de lesiones, incapacidad e institucionalización (AU)

Introduction. Accidents represent a significant health problem for elderly people. The objective of this study was to assess the incidence of accidents in over-64-year-olds in the Basque Country population, and to describe the clinical-epidemiological features leading to them. Material and methods. This was a prospective cohort study of 15,192 non-institutionalised individuals over 64 years of age, conducted under the auspices of the Basque Sentinel Practice Network (Red Vigía) over one year. A questionnaire was completed for each accident. The rates and risks of accidents were calculated by sex and age group of the individuals who had the accidents. Results. The rates of accidents were 46.52 and 81.87 per 1000 men and women, respectively. The most common type of accident was a fall (92%), and the most severe injuries were fractures (17%), with the risk of an accident being significantly higher in women and in the over-75-year-olds. Conclusions. These data reflect the scale of accidents in over-64-year-olds in the Basque Country. The most frequent accident was the fall, which represents a dramatic event among the elderly, being one of the main causes of injury, disability and institutionalisation among this population group (AU)