Medicina clinica
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Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease. ⋯ This long-term enzyme replacement therapy has been associated with significant improvements in the hepatic and lipid profiles of patients with LALD, increasing survival rates in infants with a rapidly progressive disease. Both the severity of LALD and the availability of a specific treatment highlight the need to identify these patients in clinical settings, although its low prevalence and the existing clinical overlap with other more frequent pathologies limit its diagnosis. In this paper we set out practical recommendations to identify and monitor patients with LALD, including a diagnostic algorithm, along with an updated treatment.
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Practice Guideline
Update of the Grupo Español de Leucemia Linfocítica Crónica clinical guidelines of the management of chronic lymphocytic leukemia.
The broad therapeutic arsenal and the biological heterogeneity of patients with chronic lymphocytic leukemia (CLL) makes it difficult to standardize treatment for CLL patients with specific clinical settings in routine clinical practice. These considerations prompted us to elaborate the present consensus document, which constitutes an update of the previous version published in 2013, mainly focusing on novel treatment strategies that have been developed over last 5 years, namely B-cell receptor inhibitors (ibrutinib and idelalisib), anti-CD20 monoclonal antibodies (ofatumumab and obinutuzumab), and Bcl-2 inhibitors (venetoclax). ⋯ There are many controversial issues in the management of CLL with no appropriate studies for making consensus recommendations.
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Comparative Study Observational Study
Right ventricular dysfunction in acute pulmonary embolism: NT-proBNP vs. troponin T.
Dysfunction of the right ventricle (RV) is a parameter of severity in acute pulmonary embolism (PE). Echocardiographic assessment is not always possible in accident and emergency, hence the need to predict the presence of RV dysfunction using easily measurable parameters. To analyse the value of NT-proBNP and troponin T as markers of RV dysfunction in patients with acute PE. Secondarily, to assess the relationship between RV failure and clinical parameters related to PE. ⋯ NT-proBNP is a diagnostic parameter of RV dysfunction with higher sensitivity in the context of acute PE.
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Multicenter Study Observational Study
Antithrombotic treatment and characteristics of elderly patients with non-valvular atrial fibrillation hospitalized at Internal Medicine departments. NONAVASC registry.
The prevalence of non-valvular atrial fibrillation (NVAF) increases with the patient's age and is associated with high morbi-mortality rates. The main goal of this study was to describe the characteristics of hospitalized elderly patients with NVAF and to identify the clinical and functional factors which determine the use of different antithrombotic strategies. ⋯ Hospitalized patients older than 75 years old with NVAF showed numerous comorbidities. The percentage of anticoagulation was small and 18% received only anti-platelet therapy. The patient's age, atrial fibrillation's progression time and the severity of the cognitive impairment influenced this therapy choice.