In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Introduction And Objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype.

Levels of N-terminal-pro-brain natriuretic peptide in congenital heart disease surgery and its value as a predictive biomarker.

Objectives: To explore the value of N-terminal-pro-brain natriuretic peptide (NT-ProBNP) as a predictive biomarker of postoperative cardiovascular surgery.

Methods: A prospective study of 68 patients (0-15 years), submitted to open-heart surgery was conducted. NT-ProBNP and other biochemical and clinical markers were measured preoperatively and during the first 48 postoperative hours.

[Hepatitis and coagulopathy secondary to neonatal enteroviral infection].

Enteroviruses cause a wide spectrum of clinical manifestations in neonates, from asymptomatic infection to severe and fulminant, sometimes fatal disease. A septic disease is the clinical manifestation of one fourth of the cases in neonates, with multiorganic affection. Hepatitis and coagulopathy are related to bad prognosis, generally associated to catastrophic hemorrhages.

[Molecular characterization of hepatitis E virus in three acute liver failure cases in children in Argentina].

Strains of hepatitis E virus (HEV) isolated from Argentinian patients with sporadic hepatitis, as well as from swine from Argentina, belong to genotype 3. HEV genotype 3 variants have been described associated with acute liver failure (ALF) in adults from Japan and the United Kingdom. In Argentina, 30% of ALF in adults and children are of unknown aetiology.

Mortality risk score in liver transplantation: changes over time in its predicting power.

Unlabelled: Since the onset of our liver transplantation program in 1992, 362 transplants were performed in 338 children. A risk score for predicting mortality was designed and implemented over time. The description of a method utilized to design the risk score, changes in mortality rate over 12 yr and the analysis of factors that might have influenced these changes are presented and discussed in this paper.