Publications by authors named "Helena Masnou-Ridaura"
Article Synopsis
- Wilson disease is a genetic disorder affecting copper metabolism, primarily linked to mutations in the ATP7B gene, showing a wide range of clinical symptoms among patients.
- A study of 260 patients revealed that some common mutations, particularly p.Met645Arg and p.Gly869Arg, are underreported due to their milder symptoms, leading to a higher estimated prevalence than recorded (1:3,785, suggesting over 10,500 potential cases in Spain).
- The findings indicate that individuals with the p.Met645Arg mutation often have fewer severe symptoms at diagnosis and are more likely to be diagnosed later in life, underscoring the need for increased awareness and early intervention.
Article Synopsis
- * Researchers applied a new testing protocol to analyze samples from 220 patients across various Spanish hospitals, finding that 88.6% had at least one RAS, with specific patterns linked to different HCV subtypes.
- * The findings reveal that certain patients had RAS not affected by the drugs they received, indicating the necessity for thorough RAS testing, especially since ribavirin treatment did not impact RAS diversity or type.
Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy.
View Article and Find Full Text PDFSevere alcoholic hepatitis is associated with high early mortality. This study aimed at identifying prognostic factors associated with in-hospital, medium- and long-term mortality of severe alcoholic hepatitis and to evaluate the different prognostic scoring systems on a cohort of patients in our hospital. To this end, we conducted a retrospective analysis of 66 episodes admitted between 2000 and 2008.
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