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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation. FOXF1 and its neighboring gene FENDRR were both biallelically expressed in a wide range of fetal tissues, including lung and intestine. Furthermore, detailed methylation screening within the 16q24.1 regions failed to identify regions of allelic methylation, suggesting that disrupted imprinting is not responsible for ACDMPV.

Syphilis is currently an emerging health problem, especially in high-income countries. Infection rates have increased significantly in European countries such as the United Kingdom and Spain in the last 20 years. As a result we are now seeing an increase in maternal infection, acquired during pregnancy, with a high risk of transmission to the developing fetus, which is associated with adverse neonatal outcomes. Although the Spanish incidence of congenital syphilis is below the World Health Organization (WHO) elimination threshold (50/100,000) and health measures recommended by WHO have been achieved, congenital syphilis is still a social and public health problem. Antenatal care follow-up protocols are sometimes not accurate enough to uncover the infection during pregnancy and therefore to avoid consequences in the newborn. Infection during pregnancy may be missed if it occurs after the screening period. We report a case of severe congenital syphilis in order to emphasize that in the 21st century, fetal infection still occurs in developed countries, although it is easily preventable and treatable.

Vegetarian and vegan diets have increased worldwide in the last decades, according to the knowledge that they might prevent coronary heart disease, cancer, and type 2 diabetes. Althought plant-based diets are at risk of nutritional deficiencies such as proteins, iron, vitamin D, calcium, iodine, omega-3, and vitamin B12, the available evidence shows that well planned vegetarian and vegan diets may be considered safe during pregnancy and lactation, but they require a strong awareness for a balanced intake of key nutrients. A review of the scientific literature in this field was performed, focusing specifically on observational studies in humans, in order to investigate protective effects elicited by maternal diets enriched in plant-derived foods and possible unfavorable outcomes related to micronutrients deficiencies and their impact on fetal development. A design of pregestational nutrition intervention is required in order to avoid maternal undernutrition and consequent impaired fetal growth.

Background: The benefits of hypothermia on neurodevelopment of newborns ≥ 36 weeks gestation with hypoxicischemic encephalopathy have been shown in large clinical trials. The security of hypothermia in premature infants ≤ 36 weeks has not been rigorously evaluated, although its feasibility has been suggested in recent studies. The present study aims: 1) To describe extraneural involvement in infants 33-35 weeks gestation with severe hypoxicischemic encephalopathy treated with hypothermia 2) To compare organ dysfunction with infants ≥ 36 weeks gestation. Methods: Retrospective observational study of prospective data collected. Consecutive newborns of 33-35 weeks gestation, ≥ 1800g birth weight and severe hypoxic-ischemic encephalopathy were included. Data were compared with a cohort of newborn infants ≥ 36 weeks with severe encephalopathy. Twenty clinical and laboratory variables of 6 organ-systems (cardiovascular, respiratory, renal, haematological, hepatic and pH and electrolytic imbalance) were studied and a multiorgan dysfunction scale was applied daily during the first 3 days of life. Results: Eight preterm newbors with severe HIE were compared with 31 term neonates with severe HIE. All infants presented with moderate-to-severe organ injury. There were no differences in most of organ variables, the number of affected organ-systems or the scores in the Multiorgan dysfunction Scale between both gestational age groups in the first 3 days of life (p>0.05). Conclusion: Organ injury in infants of 33-35 weeks gestation with severe HIE evaluated for hypothermia is not more severe regarding newborns ≥ 36 weeks gestation. Therapeutic hypothermia appears feasible in this gestational age group although clinical trials are needed to answer this question.

La estenosis aortica es actualmente la indicacion mas comun de cirugia cardiaca en nuestro medio. Para describir el perfil clinicoquirurgico y los resultados a corto plazo de su tratamiento quirurgico actual, estudiamos retrospectivamente a 238 pacientes intervenidos durante 2002-2003 (media de edad, 71 anos; el 43% eran mujeres). El 73% tenia EuroSCORE > 6. Se realizo: sustitucion valvular aortica aislada al 61% de los pacientes; intervencion sobre aorta ascendente al 14%; derivacion coronaria al 21% y cirugia mitral al 4%. La mortalidad hospitalaria (antes de 30 dias tras la cirugia) fue del 7,1%. En el analisis multivariable ajustado a edad, sexo y fraccion de eyeccion, solo la derivacion coronaria se asocio a una mayor mortalidad hospitalaria ( odds ratio = 4; p = 0,019). Los factores asociados a la mortalidad a los 18 meses fueron: enfermedad neurologica previa ( hazard ratio [HR] = 3,25; p = 0,017), diametro protesico

Currently, aortic stenosis is the main indication for cardiac surgery in western countries. With the aim of describing the clinical and surgical characteristics and the short-term outcome of current surgical treatment, we carried out a retrospective study of 238 patients (mean age 71 years, 43% female) who underwent surgery during 2002-2003. Of these, 73% had a EuroSCORE6. Surgical procedures included isolated aortic valve replacement in 61%, ascending aorta surgery in 14%, coronary artery by-pass grafting in 21%, and mitral surgery in 4%. The in-hospital mortality rate in the 30 days after surgery was 7.1%. Multivariate analysis, adjusted for age, sex and left ventricular ejection fraction, showed that only concomitant coronary artery by-pass grafting was significantly associated with in-hospital mortality (odds ratio=4; P=.019). Factors associated with mortality at 18 months were: previous neurological disease (hazard ratio [HR]=3.25; P=.017), prosthesis diameter21 mm (HR=2.86; P=.018), and coronary artery by-pass grafting (HR=2.35; P=.05).