PubMed Health⌕ Search

Biomedical subjects

J Rey

Publications and source records attributed to J Rey.

At least 19 recordsLinked to original sources
PubMed1992

[An epidemiological study of arterial pressure in a schoolchild population].

AIM: To know the prevalence of high blood pressure in childhood. DESIGN: Epidemiological transversal study. SITE. School population, level community. POPULATION: A population of 566 children of 6, 10 and 13 years old of Madrid public schools. MEASUREMENTS AND RESULTS: The blood pressure measure was registered two times according to the WHO's guidelines. We considered the first sound as systolic blood pressure and the fifth auscultatory phase as diastolic blood pressure. Considering as hypertensive those subjects whose blood pressure are higher than percentile 95 for their age and sex, the total prevalence of systolic hypertension was 5.8% and the total prevalence of diastolic hypertension was 1.4% in both genders. We realized that systolic hypertension prevalence is higher in males for all ages and its is also higher than the results offered by similar studies. It doesn't happen the same thing in the diastolic hypertension prevalence which we found that the measurements registered in males are higher than females but in contrast with other studies we found similar prevalence. CONCLUSIONS: We need to identify early the presence of higher blood pressure with the purpose of to prevent in time.

Adolescent↗
PubMed1992

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (17.1%) and haplotype 1 (56.1%). This frequency of mutant haplotype 1 in Portugal is, to our knowledge, the highest for this mutant haplotype in all studies reported to date. Other mutant haplotypes were either rare (haplotype 2, 9.7%) or totally absent (haplotype 3, 0%). Only 24.5% of all mutant alleles were found to consistently carry identified mutations, particularly R261Q (9.8%), R252W (3.3%), R408W (1.6%) and delta I94 (3.3%). A new mutation, L249F, located in the seventh exon of the gene, accounted for 6.5% of all mutant alleles in our series. Interestingly, this mutant genotype was consistently associated with mutant haplotype 1 (P less than 0.01), as also observed for the R261Q mutation. It appears, therefore, that mutant haplotype 1 is genotypically heterogeneous in Portugal and that more than two mutations account for its prevalence in this country.

Alleles↗
PubMed1992

Increased PIVKA-II concentrations in patients with cystic fibrosis.

Serum vitamin K concentrations and prothrombin induced by absence of vitamin K (PIVK-II) concentrations were assayed in 43 patients with cystic fibrosis. Twenty nine showed a normal PIVKA-II and vitamin K concentrations; 14 showed an increased PIVKA-II concentration, in one of whom serum vitamin K was decreased. Although their vitamin K concentrations were normal, some patients with cystic fibrosis still had an increased PIVKA-II. There was a significant correlation between PIVKA-II concentrations and the administration of antibiotics, a factor which has not previously been considered responsible for an increase in PIVKA-II.

Adolescent↗
PubMed1992

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

BACKGROUND: Several mutations in the human phenylalanine hydroxylase (PAH) gene have been described and it may be interesting to tentatively correlate mutant genotypes and clinical phenotypes of phenylketonuria (PKU). METHODS: Twelve mutations were searched for using classical techniques of molecular biology in a total of 126 patients. 3 phenotypes were arbitrarily defined: typical PKU, atypical PKU or Mediterranean form, and persistent mild hyperphenylalaninemia. The patients were classified according to the residual in vivo PAH activity. RESULTS: Mutations were found in 64 patients. One mutation was found in each of the 2 alleles in 20 children. Only one mutation could be identified in the other 44. Only 45 children could be assigned to a phenotype. Mutations leading to total loss of PAH activity were associated with typical PKU (in homozygotes or compound heterozygotes). Mutations leading to residual PAH activity were associated in homozygotes with atypical PKU; they were also associated in compounded heterozygotes with atypical PKU, irrespective of the fact that the other allele suppressed enzyme activity or was unknown. A mutation which changed the affinity of PAH for phenylalanine was associated with mild hyperphenylalaninemia. CONCLUSION: The clinical heterogeneity of PKU can be correlated with identified mutations of the human PAH gene. Molecular studies do not help to predict either the phenotype or the long-term outcome. However, description of the biochemical changes combined with identification of the mutation should lead to a better understanding of consequences of mutation for PAH activity.

Child↗
PubMed1992

[Intellectual development after relaxing the diet at the age of 5 years in typical phenylketonuria].

BACKGROUND: No satisfactory controlled trial has yet been completed on typical phenylketonuria (PKU) patients whose treatment was relaxed at the age of 5 years. METHODS: 27 children having typical PKU were treated before the age of 3 months. The intake of phenylalanine and protein was carefully regulated during the first 5 years of life, after which the treatment was relaxed. All children were evaluated after at least 6 years on the relaxed diet. Their IQ scores and school performance were related to the degree of dietary control and plasma phenylalanine values. RESULTS: The IQ scores at 5 years of age were 100 +/- 10.8. Continued evaluation showed that IQ scores remained unchanged. Poor school performance was twice as frequent as in general population; the deficit in the IQ score of this group was 8 points below that of normal sibs. There was no correlation between plasma phenylalanine and the IQ score after the age of 5 years. The positive control decreased with aged. CONCLUSIONS: Children with typical PKU have an IQ deficit relative to their normal sibs just before relaxing treatment. Good dietary control until 5 years of age, maternal intelligence and continuing evaluation during relaxing diet are the best conditions for optimal intellectual progress. There is no evidence that continued treatment during adolescence is beneficial.

Child Development↗
PubMed1991

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH). The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease. We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype. Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine. Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal.

Base Composition↗
PubMed1991

Protein-metabolism kinetics and energy-substrate utilization in infants fed parenteral solutions with different glucose-fat ratios.

The relative effect of glucose and lipids on whole-body protein-metabolism kinetics was assessed in seven infants undergoing parenteral feeding. Protein intake was kept constant and nonprotein energy was either provided as glucose alone or as an isoenergetic glucose-lipid mixture according to a randomized crossover trial. Protein metabolism and energy-substrate utilization were assessed by a primed, constant L-[13C]leucine infusion, combined with indirect calorimetry. There was a significant difference in the pattern of energy-substrate utilization according to regime. Protein turnover (11.3 +/- 0.7 vs 9.8 +/- 0.4 g.kg-1.d-1; P less than 0.05), protein breakdown (8.4 +/- 0.6 vs 7.1 +/- 0.4 g.kg-1.d-1; P less than 0.05), and amino acid oxidation rates (2.7 +/- 0.4 vs 1.4 +/- 0.5 g.kg-1.d-1; P less than 0.05) were higher for the glucose than the glucose-lipid treatment, whereas protein-synthesis rates did not significantly differ. These results suggest that the nature of energy substrates delivered to parenterally fed infants may affect protein metabolism.

Calorimetry, Indirect↗
PubMed1991

Helminth parasites in some Spanish bats.

Nineteen bats of the species Rhinolophus ferrumequinum, R. hipposideros, Myotis myotis, M. nattereri, Pipistrellus pipistrellus, Barbastella barbastellus, Eptesicus serotinus and Plecotus auritus captured in N. W. Spain in 1983-85 were found to contain the following helminth parasites: Mesotretes peregrinus (found in 4 host species and making up 31% of all helminths); Plagiorchis vespertilionis (10.5%, in 2 host species); Strongylacantha glycirrhiza, Molinostrongylus alatus, Molineidae gen. sp., Capillariidae gen. sp., Hymenolepis acuta, Cestoda gen. sp. and Trematoda gen. sp. I and II (5.2% in 1 host species).

Animals↗
PubMed1991

Lung and hearth nematodes in some Spanish mammals.

Thirteen host species belonging to the orders Rodentia, Insectivora and Carnivora from various localities in Galicia (NW Spain) were examined for heart and lung parasites. The following species were found: Parastrongylus dujardini (5.5%) in Apodemus sylvaticus, Crenosoma striatum in Erinaceus europaeus (83%), Angiostrongylus vasorum, Crenosoma vulpis and Eucoleus aerophilus in Vulpes vulpes (3, 3.46 and 0.50%, respectively), Crenosoma taiga in Putorius putorius (100%) and Crenosoma sp. in Meles meles (25%). In Crocidura russula nematode larvae were found (3.3%). Mus musculus, Rattus norvegicus, Rattus rattus, Talpa caeca, Sorex araneus, Genetta genetta and Canis lupus were not parasitized by lung or heart parasites.

Animals↗
PubMed1991

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

In the past few years, more than 20 different mutations have been reported in hyperphenylalaninemias. In southwestern Europe and Mediterranean countries, however, the mutant genotypes reported account for only a fraction (27%) of all mutant alleles at the phenylalanine hydroxylase (PAH) locus, and most of the mutations causing the disease remain unknown. In order to develop a strategy for rapid detection of mutation-containing exons, we applied the single-strand conformation-polymorphism (SSCP) technique to exons 3, 5, 7, and 12 of the PAH gene. We observed five abnormal patterns of migration in mutant PAH genes, and we consistently found base substitutions in the corresponding exons, with no false-positive results. By this procedure, two novel putative mutations were detected in the seventh exon of the PAH gene, (A259V and Y277D) and we were able to demonstrate that the delta I94, R158Q, R408W, and E280K mutations were easily detectable by the SSCP technique. This procedure is therefore of particular interest for rapid detection of mutation-containing exons and for determination of further genotype-phenotype correlations in hyperphenylalaninemias.

Base Sequence↗
PubMed1990

Effects of SK&F 104353, a leukotriene receptor antagonist, on the bronchial responses to histamine in subjects with asthma: a comparative study with terfenadine.

We compared the effects of pretreatment of 800 micrograms of inhaled Smith Kline & French (SK&F) 104353, a leukotriene receptor antagonist, and 120 mg of oral terfenadine on the bronchial responses to inhaled histamine in 12 subjects with asthma. The study took place on 3 different days and was conducted according to a double-blind, crossover, double-dummy, randomized, and placebo-controlled design. There was no difference in baseline and prechallenge FEV1 after placebo, SK&F 104353, and terfenadine administration. The median ratio of the provocative dose causing a 20% fall in FEV1 from baseline (PD20) with terfenadine over PD20 with placebo was 12.36 (range, 3.2 to 30.3; p less than 0.01) and that of PD20 with SK&F 104353 over PD20 with placebo was 1.51 (range, 0.8 to 5.9; not significant). Analysis of individual results demonstrated a shift toward the right of the dose-response curves to histamine with SK&F 104353 compared to that with placebo in three subjects, whereas the active compound did not exhibit any protective effect against histamine in the remaining nine subjects. We conclude that there is a leukotriene component to the bronchial responses to histamine in some, but not all, subjects. This component remains, however, small and does not appear to be clinically important in the population of subjects with asthma that was studied.

Adult↗
PubMed1990

Absence of HIV DNA sequences in seronegative polytransfused thalassemic patients.

The risk of infection with human immunodeficiency virus (HIV) by transfusion is not totally eliminated, since contaminated blood given before seroconversion to HIV is not detected on the actual biological screening. We used the polymerase chain reaction (PCR) assay (with one primer pair in the gag region and two in the pol region) to detect HIV DNA sequences in 30 seronegative polytransfused thalassemic patients and in 60 seropositive individuals (used as positive controls). We did not observe PCR-positive HIV-antibody-negative results in seronegative polytransfused patients.

Adolescent↗