Medicina clinica
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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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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.