Diagnóstico prenatal y evolución en fetos con agenesia de ductus venoso / Prenatal diagnosis and evolution in fetuses with ductus venosus agenesis

Antecedentes: El ductus venoso es una derivación vascular (shunt) presente en el feto que permite el paso de sangre oxigenada de la vena umbilical (VU) hacia la circulación coronaria y cerebral. Su agenesia se asocia con defectos cromosómicos, síndromes genéticos, defectos estructurales y complicaciones prenatales como crecimiento intrauterino retardado y muerte fetal. Resultados: Se analizaron 15 agenesias de ductus venoso (ADV) en gestaciones únicas entre enero de 2010 y diciembre de 2013. El 80 por ciento de ellas fueron diagnosticadas en la exploración rutinaria de la semana 12. Se realizó estudio de cariotipo en el 53 por ciento de los casos (8/15), bien por riesgo alto de cromosomopatía en el cribado combinado y/o translucencia nucal aumentada (75 por ciento) o malformaciones asociadas (25 por ciento). Sólo hubo un diagnóstico de trisomía 21 y postnatalmente de una microdelección del cromosoma 7. Realizaron interrupción legal del embarazo un total de 4 pacientes (por trisomía 21 o por alteraciones estructurales). Entre las 11 gestaciones restantes un 27 por ciento se diagnosticó RCIU, hubo una muerte neonatal a las 12 horas de vida por síndrome de aspiración meconial e hipertensión pulmonar. En un 60 por ciento se objetivó la presencia de un drenaje umbilicohepático y entre los 6 restantes con shunt portosistémico, 4 tenían conexión entre la VU y la VCI. Conclusión: La ADV es una anomalía infrecuente del sistema venoso fetal, de difícil diagnóstico y con mal pronóstico en aquellos casos en que se asocia con otros marcadores y/o anomalías estructurales que pueden aparecer tardíamente, por lo que debe realizarse un seguimiento adecuado.

Background: The ductus venosus (DV) is a unique shunt that allows direct passage of oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation by a preferential passage through the foramen ovale. DV agenesis (DVA) is associated with chromosomal abnormalities, genetic syndromes, structural defects and prenatal complications such as intrauterine growth retardation (IUGR) or even stillbirth. Results: We report 15 cases of DVA in singleton pregnancies between January 2010 and December 2013. 80 percent of them were diagnosed on routine examination during the 11-14 weeks scan. Karyotyping was performed in 53 percent of cases (8/15) by high risk of chromosomal abnormalities in the first trimester combined screening and/or an increased nuchal translucency thickness in 6/8 (75 percent), or associated malformations 2/8 (25 percent). There was only one fetus diagnosed of trisomy 21 by amniocentesis and another fetus was postnatally diagnosed of a microdeletion of chromosome 7. 4 patients performed legal abortions (the trisomy 21 and in 3 cases for severe structural malformations). Among the remaining 11 pregnancies, 3 (27 percent) were diagnosed with IUGR and there was a neonatal death at 12 hours of life for meconium aspiration syndrome and pulmonary hypertension. 60 percent of the fetus presented an intrahepatic drainage and among the remaining 6 with portosystemic shunt, in 4 a connection between the UV and the inferior vena cava was observed. Conclusion: DVA is a rare anomaly of the fetal venous system, difficult diagnosis and poor prognosis in cases associated with other markers and/or structural abnormalities that may even appear late. A detailed survey of fetal anatomy and follow up of these fetuses is necessary.

Impacto de la inmigración desde Rumanía en la tuberculosis de un área mediterránea / No disponible

Fundamento: Conocer las características de la Tuberculosis en la provincia de Castellón y analizar los cambios que ha producido en ella la llegada de la inmigración procedente de Rumanía. Métodos: Estudio observacional retrospectivo de todos los casos declarados de Tuberculosis en los departamentos 2 y 3 de la Comunidad Valenciana entre los años 2004 y 2007.Resultados: Se estudiaron 306 casos, observando estabilización de casos en autóctonos y progresivo aumento en inmigrantes que en 2007 suponen el 47%, de los cuales el 64%procede de Rumanía. Los pacientes rumanos son más jóvenes (33,8 frente a 47,8 años), previamentesanos, con más proporción de mujeres (47% frente a 67%) y formas clínicas exclusivamente pleuropulmonares. Presentan elevado porcentaje de abandono de tratamiento (7,9%)y pérdidas del caso (15,8%). La tasa global de resistencias a tuberculostáticos en el total de casos ha sido del 4,5% y la de multirresistencia del 1,4%. Las resistencias en el grupo total de inmigrantes han sido del 5,15%: 1,6% en el grupo de inmigrantes rumanos y 11,4% en el grupo de inmigrantes de otras nacionalidades. Conclusiones: El fenómeno de la inmigración está modificando la dinámica de la Tuberculosis en Castellón. Se ha producido un freno en el declive de las tasas anuales de incidencia a expensas del aumento de casos en extranjeros, que en 2007 suponen el 47%, siendo en su mayoría de nacionalidad rumana (AU)

Aim: To know the characteristics of the Tuberculosis in the Castellón’s province and to analyze the changes that this has produced in because of the arrival of the immigration proceeding from Romania. Methods: Retrospective observacional study of all the declared cases of Tuberculosis in the department 2 and 3 of Castellón’s province between the year 2004 and 2007.Results: 306 cases were studied, observing stabilization of cases in autocthonous and progressive increase in immigrants who in 2007 represented 47 %, of which 64 % comes from Romania. The rumanian patients are younger (33,8 from to 47,8 years), previously healthy, with a higher women’s proportion (47% from 67%) and with clinical forms exclusively pleuropulmonars. They present a high percentage of treatment abandon (7,9%) and losses of the case(15,8%). The global rate of resistances to tuberculostáticos in the whole of cases has been 4,5%and of multirresistencia 1,4 %. In the complete group of immigrants, total resistance has been5,15%: 1,6% in the group of rumanian immigrants and 11,4% in the group of immigrants of other nationalities. Conclusions: The phenomenon of immigration is modifying the dynamics of Tuberculosis in Castellón. A brake has taken place in the decline of represented annual rates of TB mainly off the increase of cases in foreigners, who in 2007 suppose 47 %, being in the main of Rumanian nationality (AU)

Disproportionate elevation of N-terminal pro-brain natriuretic peptide in scleroderma-related pulmonary hypertension.

N-terminal pro-brain natriuretic peptide (NT-proBNP) is a marker of neurohormonal activation that is useful in the diagnosis and prognosis of various forms of pulmonary arterial hypertension (PAH). We sought to characterise and compare NT-proBNP in a cohort of PAH related to systemic sclerosis (PAH-SSc) and idiopathic PAH (IPAH) patients. NT-proBNP levels, collected from PAH-SSc and IPAH patients followed prospectively, were compared and correlated with haemodynamic variables. Cox proportional hazard models were created to assess the predictive value of NT-proBNP. 98 patients (55 PAH-SSc, 43 IPAH) were included. Haemodynamics were similar, except for lower mean pulmonary arterial pressure in PAH-SSc. NT-proBNP levels were significantly higher in PAH-SSc (3,419+/-3,784 versus 1,393+/-1,633 pg x mL(-1); p<0.01) and were more closely related to haemodynamics in PAH-SSc than IPAH. 28 patients died. NT-proBNP predicted survival (hazard ratio (HR) 3.18; p<0.01) in the overall cohort; however, when stratified by group, predicted survival only in PAH-SSc (HR 3.07, p<0.01 versus 2.02, p = 0.29 in IPAH). This is the first description showing NT-proBNP levels are 1) significantly higher in PAH-SSc than IPAH despite less severe haemodynamic perturbations, and 2) stronger predictors of survival in PAH-SSc, suggesting that neurohormonal regulation may differ between PAH-SSc and IPAH. Future studies to define pertinent mechanisms are warranted.

Probabilistic model-based methodology for the conformational study of cyclic systems: application to copper complexes double-bridged by phosphate and related ligands.

A methodology for the conformational study of cyclic systems through the statistical analysis of torsion angles is presented. It relies on a combination of different methods based on a probabilistic model which takes into account the topological symmetry of the structures. This methodology is applied to copper complexes double-bridged by phosphate and related ligands. Structures from the Cambridge Structural Database (CSD) are analyzed and the chair, boat-chair and boat conformations are identified as the most frequent conformations. The output of the methodology also provides information about distortions from the ideal conformations, the most frequent being: chair <--> twist-chair, chair <--> twist-boat-chair and boat <--> twist-boat. Molecular mechanics calculations identify these distortions as energetically accessible pathways.

[Primary amyloidosis localized in the bladder]. / Amiloidosis primaria localizada de vejiga urinaria.

OBJECTIVE: We report a case of localized amyloidosis of the urinary bladder in an 80-year-old female whose main presenting symptom was massive hematuria. METHODS: Cystoscopic examination revealed a tumor on the trigone and bladder neck. A transurethral resection of the tumor was performed and the fragments were processed for histopathological study with hematoxylin-eosin and Congo red staining and ultrastructural study. RESULTS: The histopathological analyses disclosed large eosinophilic deposits in the submucosa with birefringence under polarized light in Congo red staining. Electron microscopy revealed a meshwork of filaments typical of amyloid. The patient had no symptoms or signs of systemic disease and remains symptom-free four years later. CONCLUSIONS: Primary localized amyloidosis of the urinary bladder is a rare condition that can be successfully treated surgically and has an excellent prognosis.