Medicina clinica
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For many years irritable bowel syndrome (IBS) and celiac disease (CD) have been considered 2 completely separate entities, with CD being clearly related to a permanent gluten intolerance and IBS having no relation with gluten ingestion. However IBS and CD symptoms may be indistinguishable, especially when diarrhea, bloating or abdominal pain predominate. In the last decade several studies have shown that the separation between CD and IBS is not so clear. ⋯ Gluten sensitivity is defined as the spectrum of morphological, immunological and functional abnormalities that respond to a gluten-free diet. This concept includes histological, immunological and clinical manifestations in the absence of evident morphological abnormalities. Therefore, it is mandatory to establish in a scientific way in which patients a gluten-free diet will be beneficial as well as when this is not justified.
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Comparative Study
[Relevance of CYP2C19 2 regarding platelet reactivity in patients with acute coronary syndrome treated with clopidogrel].
Previous studies have shown that the metabolism of P2Y12 receptor blockers is influenced not only by CYP2C19 2 but also by PON1-Q192R alelles. We aimed to evaluate the impact of CYP2C19 2 and PON1-Q192R polymorphisms carriage in platelet reactivity and clinical outcome in patients with ischemic heart disease undergoing cardiac catheterization. ⋯ CYP2C19 2 polymorphism influenced moderately platelet reactivity but did not show an impact on clinical outcome in patients with acute coronary syndrome. Neither CYP2C19 17 nor PON1-Q192R polymorphisms showed an impact upon platelet reactivity or outcome.
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Multicenter Study
[Prevalence of type 2 diabetes mellitus in overweight or obese outpatients in Spain. OBEDIA Study].
The increase in the prevalence of type 2 diabetes mellitus (T2DM) is related to the increase of obesity. We aimed to determine the Spanish prevalence of T2DM in patients with overweight or obesity attended by either family or specialist physicians. ⋯ T2DM is related to overweight and obesity and higher the BMI is, higher the T2DM prevalence. Dyslipidemia, hypertension and a low physical activity in diabetic patients are more frequent when BMI increases. Patients with inadequate metabolic control have a higher BMI.
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Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. ⋯ We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time.
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The aim of the present study was to analyze the usefulness of the determination of fibroblast growth factor 23 (FGF23), a regulatory hormone of phosphate metabolism, in the evaluation of patients with osteomalacia of different causes. ⋯ The determination of FGF23 could be useful in the evaluation of the different types of hypophosphatemic osteomalacia and also in the identification of their associated etiopathogenic mechanisms. Thus, depending on the cause, 50% of the patients with hypophosphatemic osteomalacia showed increased FGF23 values, whereas in vitamin D-deficiency osteomalacia and in hypophosphatasia FGF23 levels were normal.