Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1.

The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is known. We present a case of a girl with isolated café-au-lait spots, whose father was diagnosed with NF1.

Novel therapeutics in hypertriglyceridaemia and chylomicronaemia.

Currently there is evidence on hypertriglyceridaemia as an independent risk factor of atherosclerosis. Chylomicronaemia associated with very high concentration of triglycerides may cause severe and recurrent acute pancreatitis. The cause of most cases is a combination of a polygenetic basis with some lifestyles and pathological conditions.

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Background: Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of this study was to perform an in-depth characterisation of constitutional MLH1 epimutations targeting the aberrantly methylated region around MLH1 and other genomic loci.

Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge.

Hereditary renal amyloidosis is an autosomal dominant condition with considerable overlap with other amyloidosis types. Differential diagnosis is complicated, but is relevant for prognosis and treatment. We describe a patient with nephrotic syndrome and progressive renal failure, who had a mother with renal amiloidosis.

[Therapeutic strategies. Evolution and current status of the European Guidelines on Cardiovascular disease prevention].

The European Guidelines on Dyslipidaemias (2011) and Cardiovascular Prevention (2012) have incorporated important changes. Firstly, it highlights the identification of a group of "very high risk" patients: patients with atherosclerotic disease in any vascular area, diabetes with associated risk factors, advanced chronic renal failure, or a SCORE estimate >10%. Patients with diabetes and no other risk factors, moderate renal failure, severe hypertension, genetic dyslipidaemias, or a SCORE estimate 5-10%, are considered as "high risk".

[Determinants of carotid subclinical atherosclerosis in patients with rheumatoid arthritis. A case-control study].

Background And Objective: Rheumatoid arthritis (RA) is characterized by high cardiovascular (CV) mortality, which seems related to systemic inflammation. Our aim was to quantify carotid atherosclerosis in RA and its relationship with the disease.

Patients And Method: 73 RA patients and the same number of sex and age matched controls were enrolled, without history of cardiovascular events.

[Clinical value of the ankle-brachial index in patients at risk of cardiovascular disease but without known atherothrombotic disease: VITAMIN study].

Introduction And Objectives: Detecting peripheral arterial disease by measuring the ankle-brachial index can help identify asymptomatic patients with established disease. We investigated the prevalence of peripheral arterial disease (i.e.

Changes in lipid profile after biliopancreatic diversion.

Background: Bariatric operations have varying degrees of effectiveness and different mechanisms of action. Our objective was to evaluate the efficacy of the biliopancreatic diversion (BPD) in reduction of weight and serum lipids.

Methods: A prospective study was conducted with follow-up from 12 to 72 months (average 39.