[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 diseases are screened, including those recommended SNS except sickle cell anemia which is in the inclusion phase. In its 20-year history, 404,616 newborns (nb) have been analyzed, identifying 547 cases affected by the diseases included, with a global incidence of 1: 739 newborns and 1: 1.

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

Objectives: To establish a genetic and clinical diagnosis in a newborn with fetal-onset dilated cardiomyopathy using next-generation sequencing technologies.

Methods: We have conducted the clinical evaluation of the proband and the molecular characterization of his disease by means of whole-exome sequencing. In addition, the clinical evaluation and subsequent genetic screening of five relatives has been performed.

[Microbiological profile of acute viral gastroenteritis attended in a paediatric department of an area with high vaccine cover against rotavirus].

Introduction: Vaccination against rotavirus has led to a significant decline of the disease. The aim of the present work is to evaluate the clinical and epidemiological features of the viral acute gastroenteritis (AGE) in an area with high immunization coverage against rotavirus.

Method: A prospective microbiological evaluation was made of stool culture and Real Time Polymerase Chain Reaction (RT-PCR) to gastroenteric virus and genotyping of rotavirus strains in < 5 year-old with AGE episodes attended by or admitted to our hospital from November-March of 2009-2010 and 2010-2011.