Sofia Cuenca

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Production of the siderophore yersiniabactin is associated with virulence in Yersinia species. The genes for biosynthesis and uptake of yersiniabactin are located on a high-pathogenicity island (HPI). The distribution and functioning of the Yersinia HPI were assessed in different Enterobacteriaceae strains isolated from blood cultures and urine samples. In(More)
BACKGROUND Dilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation (HTx). The genetic basis of DCM among patients undergoing HTx has been poorly characterized. We sought to determine the genetic basis of familial DCM HTx and to establish the yield of modern next generation sequencing (NGS) technologies in this setting. METHODS(More)
2. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J 4. Jiménez-Jáimez J, López Moreno E, Barrio López(More)
BACKGROUND Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited(More)
Congenital anomalies of the pulmonary veins are rare. Meandering right pulmonary vein, considered a part of the Scimitar syndrome spectrum, is often an incidental finding during chest imaging. We present the case of a 4-year-old girl diagnosed with meandering pulmonary vein, who developed pulmonary hypertensive disease with an aggressive course, in spite of(More)
INTRODUCTION Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS Three hundred and eighty-seven consecutive(More)
In diesem Beitrag soll der Stellenwert der Laboratoriumsdiagnostik im diagnostischen Arsenal des HNO-Arztes dargestellt werden. Dabei steht der rationale und dadurch bedingt rationelle Einsatz laboratoriumsmedizinischer Methoden in der kritischen Wertung. In den Zeiten der DRG ist eine rationelle Labordiagnostik im Sinne einer kostenbewussten Medizin mit(More)
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