Medicina clinica
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Patient-reported outcome measures (PROMs) and patient-reported experiences measures (PREMs) are crucial for understanding the impact of GD on quality of life and patient's perceptions on care, but also to guide decision-making processes. Nevertheless, no specific PREMs in GD have been published, neither PROMs for Spanish GD patients have been developed. ⋯ This expert consensus may help developing GD-specific PROMs/PREMs for improving GD management. Properly developed and validated PROMs/PREMs may help decision-making, establishing patient-tailored therapeutic and follow-up goals.
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The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype-phenotype correlation evaluating with the clinical context. ⋯ Our prevalence results are as expected, and similar to those obtained by other studies. Although some of the genetic findings explain the clinical symptoms of some of our patients, we remain have a high number of patients without a clear molecular diagnosis.
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Lipoprotein(a) [Lp(a)] is a significant risk factor for cardiovascular disease, yet it is often overlooked in routine clinical assessments. As a primarily genetically determined risk factor, the traditional recommendation is to assess its level once in a lifetime, as the variability of Lp(a) over time is considered to be minimal. This study aims to evaluate the potential variability of Lp(a) in clinically stable patients and investigate factors contributing to the lack of stable levels. ⋯ Our study suggests reconsidering the reliance on a single Lp(a) measurement for assessing cardiovascular risk. Repeat measurements, particularly in borderline cases, may be beneficial.
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Evaluate clinical and subclinical arteriosclerotic disease in older patients with hip fracture compared with patients without fracture in order to increase knowledge about the relation between both diseases in older individuals. ⋯ Older patients with hip fracture had significantly higher presence of subclinical alterations but not increase on rate of cardiovascular arteriosclerotic disease compared with those without hip fracture.