Medicina clinica
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The overgrowth syndromes related to phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) are grouped under the concept of PROS (PIK3CA-related overgrowth spectrum). It is a heterogeneous group of diseases, considered a rare disease (ORPHA: 530313), which combines the presence of vascular malformations with segmental overgrowth of some parts of the body. All these diseases are caused by mutations in the gene that encodes for the alpha subunit of PI3K. ⋯ Depending on the stage of embryonic development and the affected germ layers, the phenotype will be very different, from syndromes with extensive involvement to isolated forms. Although there are clinical criteria, identification of the mutation by biopsy, although complex, confirms the diagnosis. The objective of the present study is to review the pathophysiological, clinical, diagnostic, and therapeutic aspects of PROS, in order to optimize its identification.
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Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a systemic, autoimmune disease. Cytokine dysregulation during active disease and clinical remission, reflects significant immunological activity in various disease stages, and might be responsible for the potential relapse of ANCA-vasculitis. ⋯ In MPA, IL-12 correlates positively with disease activity, and is significantly increased in patients with cardiovascular involvement and nasal S. aureus carriers. Increased IL-10 is observed in young MPA patients and in those with short MPA duration. Elevated BAFF and IL-10 levels are associated with pulmonary involvement in GPA. High BAFF levels might reflect severe GPA.
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To analyse the differences in the cardio-metabolic profile of patients with primary aldosteronism (PA) and autonomous cortisol secretion (ACS) matched by age and sex. ⋯ Despite the higher prevalence of hypertension in the patients with PA than in the patients with ACS matched by age and sex, no differences were detected in the prevalence of other cardio-metabolic comorbidities. However, the PA patients showed a greater deterioration in kidney function and lipid profile throughout the follow-up than the ACS patients.
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implantable cardiac defibrillator (ICD) has been established as a therapy for malignant ventricular arrhythmias in patients at high risk of suffering them. Some studies suggest a possible relationship between the development of cancer and some prosthetic materials. Likewise, some investigations describe a higher incidence of cancer in patients with an ICD that suggest a potential relationship. ⋯ In our sample of ICD carriers the incidence of cancer is high. This finding mainly seems to be related to tobacco usage and higher age.