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M L Couce

Publications and source records attributed to M L Couce.

5 recordsLinked to original sources
PubMed1988

[C-reactive protein, lactate and LDH isoenzymes in the cerebrospinal fluid in the diagnosis in childhood meningitis].

C reactive protein lactate and LDH isoenzymes were quantified in CSF of 32 children with meningitis (27 bacterial and 5 viral). Results in cases with bacterial meningitis were as follows. C reactive protein sensitivity was 11.1% and specificity was 100%. Lactate sensitivity was 33.3% and its specificity was 80%. LDH1 and LDH5 had a sensitivity of 44.4%, and specificities of 100 and 60% respectively. Considering these results an has believe that none of these tests is definitive in diagnosis of bacterial meningitis in children.

C-Reactive Protein↗
PubMedDate not supplied

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.

Genotyping of the phenylalanine hydroxylase (PAH) gene offers a new tool for characterizing patients with phenylketonuria (PKU), refining the diagnosis and aiding in the prediction of the clinical outcome and in the implementation of a more adequate treatment. The primary goal of this work was the detailed study of the different allele combinations and the metabolic phenotypes in Spanish PKU patients in order to understand better the clinical heterogeneity of PAH deficiency in our population. The results show that the disease phenotype is a consequence of a combination of mutations at the PAH locus and this observation is valid throughout the spectrum of clinical and biochemical varieties found in Spanish PKU patients. A stronger correlation was found between the predicted residual activity, when known from previous in vitro studies of the mutant proteins, and the Phe tolerance than between the predicted residual activity and the inverse of Phe levels at diagnosis. The observed genotype-phenotype correlations and the available data on the in vitro residual activity of the mutant proteins has enabled the estimation of the severity of most of the mutations found in Spain. This study includes relevant data for clinicians and pediatricians adding to the present knowledge which relates allelic PAH genotypes to biological phenotypes.

Genetic Heterogeneity↗