[Neurofibromatosis type 2 in childhood: a clinical characterization].

Introduction: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities.

Case Report: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included.

A multicentre analysis of four low-density lipoprotein cholesterol direct assays in samples with extreme high-density lipoprotein cholesterol concentrations.

Background: Although LDL-C has been traditionally estimated using the Friedewald formula (FF), several direct homogeneous assays have been developed to overcome the limitations of this formula and the complicated manual procedure required in the reference method. However, several differences have been reported between these assays in certain situations.

Methods: Two groups of 105 samples with extreme low and high HDL-C concentrations were processed, employing four different instruments and with the reagents for total cholesterol, triglycerides, HDL-C and LDL-C provided by the distinct manufacturers.

[Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients].

Introduction: Clinical, electrophysiological, genetic and biochemical deficiencies variability were evaluated in 52 patients diagnosed of mitochondrial respiratory chain diseases (MRCD).

Patients And Methods: 26 men and 26 women, aged 19 to 79 years, were tested by clinical examination, electrophysiological techniques, muscle biopsy and genetic and biochemical studies.

Results: The patients were classified into seven phenotypes: myopathy, chronic progressive external ophthalmoplegia, progressive ophthalmoplegia plus ataxia, Kearns-Sayre syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke episodes (MELAS), myoclonic encephalopathy with ragged-red fibers (MERRF), and encephalopathies.

[Relation between intermediate troponin T values and diagnosis of cardiac disease].

Background And Objective: Troponins are useful tools in management of patients with acute coronary syndrome (ACS). Small increases do not guarantee a desirable precision (CV < 10%) and there is a "grey zone" between 99 percentile and clinical cut off. Our objective was to evaluate if "grey zone" troponin values reflect heart damage or they are only "analyzer noise".

Prevalence and progression of mitochondrial diseases: a study of 50 patients.

We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.