Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. These common anomalies are illustrated with figures from two personal cases. Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomalies. In this context, a new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated PIK3CA-related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.

ABSTRACT. Semantic verbal fluency (SVF) is one of the most widely used tests for cognitive assessment due to its diagnostic utility (DU). Objective: our objective is to evaluate the DU to detect cognitive impairment (CI) of a short version of the SVF applied in 30 seconds (SVF1-30). Methods: a prospective sample of consecutive patients evaluated in a Neurology Unit between December 2016 and December 2017 were assessed with the Global Deterioration Scale (GDS), 30-second and 60-second SVF tests (animals), and the Fototest, which includes a fluency task of people’s names. The DU for CI was evaluated by the area under the ROC curve and effect size (“d” Cohen). Results: the study included 1012 patients (256 with CI, 395 with dementia). SVF1-30 shows a good correlation with GDS stage. The DU of SVF1-30 is identical to that of the classical version, applied in 60 seconds, (SVFtotal) for CI (0.89 ± 0.01; p > 0.50), and shows no significant difference for dementia (0.85 ± 0.01 vs. 0.86 ± 0.01, p > 0.15). Discussion: the DU of SVF1-30 is similar to that of the SVFtotal, allowing a reduction in examination time with no loss of discriminative capacity.

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Stroke is associated with higher admission and in-hospital mortality rates than SCA. Likewise, patients with haemorrhagic stroke showed higher mortality rates than those with ischaemic stroke. Patients with fatal stroke usually had a history of long-term treatment with anticoagulants; 2 thirds of the patients with fatal ischaemic stroke and atrial fibrillation were not receiving anticoagulants. According to our results, optimising prevention in patients with AF may have a positive impact on stroke-related in-hospital mortality.

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