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Biomedical subjects

J Rey

Publications and source records attributed to J Rey.

At least 73 records · Page 4Linked to original sources
PubMed1997

[Long-term consequences of fetal nutrition].

A large number of animal experimental data indicate that pre- or early postnatal malnutrition can have long-term negative consequences on weight and height, with smaller weight and height in adulthood than predicted on genetics basis. Furthermore, according to the Barker's hypothesis, based on data available from British cohort studies, in utero malnutrition could also result in an increased risk of cardiovascular, endocrine and metabolic diseases in adulthood. There are however discordant data in the literature which invite to be cautious about on this hypothesis, mainly because the role of the socio-economic factors during childhood and adulthood have not been taken into account.

Adult↗
PubMed1997

Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study.

Twenty-two French patients with early treated phenylketonuria (PKU) off diet (no reduced phenylalanine, Phe) since their 5th birthday, 23 German patients on diet (reduced Phe), and 21 healthy control subjects from childhood to adulthood matched for age, sex, and IQ were investigated for visuomotor reaction time, sustained attention, and visual stimulus scanning. Determinations were made whether 1) the three groups showed different developmental trends in their reaction times, 2) the threshold of a Phe blood level of 360 mumol/L formulated in recent recommendations can be regarded as safe, 3) test performances are related to the quality of dietary control in the same way for all age groups, and 4) long-term elevated Phe levels result in aggravating effects of increasing differences between patients on and off diet and healthy controls. Results revealed that developmental trends were similar in all treatment groups. Only children with a mean Phe level below 360 mumol/L performed as well as control subjects. Differences between treatment groups decreased in adulthood, and no aggravating effect could be observed. Mean performance of patients with mild PKU off diet was in the same range as performance of patients with classical or mild PKU on diet, calling into question the benefit of treating these patients. It is concluded that it is preferably safer to maintain Phe blood levels below 360 mumol/L at least during the first 10 y of life.

Adolescent↗
PubMed1996

Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age. The Paris Study.

The age for discontinuing dietary treatment of phenylketonuria (PKU) has been a worldwide source of controversy for many years. It is the reason we report here the results of a prospective, controlled study in which the diet was relaxed at 5 years of age in 31 so far well-treated children with classical PKU. The increase of phenylalanine (Phe) plasma levels to about 1500 mumol/l (25 mg/dl) after relaxing the diet was not associated with any significant decline of intellectual performance as measured by the Wechsler scores. Paired comparisons at 7-8 years and 11-13 years of age (n = 12) have shown WISC scores of 102.6 +/- 16.2 and 104.8 +/- 16, respectively, which were not significantly different. Similarly, paired comparisons at 9-10 years and 14-16 years (n = 6) did not demonstrate a significant loss of IQ points (107.7 +/- 13 vs 104.8 +/- 18). Of course, it is possible to argue that we should have observed an increase in IQ with increasing age in our patients and that the absence of deterioration cannot be considered by itself as a good result. Nevertheless, it cannot be excluded that the subtle but global intellectual impairments that have been documented in early-treated subjects are, to a very substantial degree, determined in the pre-school years, long before there is any question of stopping or relaxing the diet.

Child, Preschool↗
PubMed1996

[Standardization Committee for Haematology. External Quality Assurance Program for General Hematology. Evaluation of the 1994 results].

UNLABELLED: Since 1994, the Standardisation Committee for Haematology publishes yearly the results of its external quality assurance programme (EQAPH), after it has been improved and even integrated in the Health Services of some autonomous communities. METHODS: Four hundred and seventy-three laboratories take part in EQAPH. The evaluation of the haematological records is carried out every year from the results of two whole blood samples. Two samples of lyophillised plasma are sent every month to participant laboratories in order to assess prothrombin time (PT), partial thromboplastin time (PTT) and fibrinogen. Samples are sent every three months for antithrombin III (AT-III) determination. According to the types of autoanalysers used, 9 groups have been established: Group I (Technicon H* and H-6000), group II (Technicon H*2 and H*3), group III (Coulter MaxM, STKS, Cobas Argos and Cell-Dyn 3000/3500), group IV (Coulter STKR), group V (Coulter JS/JT), group VI (Coulter S/T, Cobas Helios/Minos), group VII (Sysmex E/NE), group VIII (Sysmex K-1000), and group IX (other semi-automated counters). Three groups are established for general coagulation tests and two others for AT-III. The value of the mean of all results (consensus mean) and of each particular group (group mean) are used as statistical methods. The results are expressed as: (1) coefficient of variation, % (CV); (2) deviation index (DI); DI values attained with respect to the same group (or method) or all groups (or methods) allowed us to classify the results in four categories: excellent (0 < DI < 0.5), good (0.5 < DI < 1.0), satisfactory (1.0 < DI < 2.0), and out of acceptable limits (ID > 2.0); (3) Youden graphs or graphic representations of DI calculated from the analysis of the control specimens. RESULTS: Group I yielded lesser values for leucocyte count (0.221) and higher for MCH (0.833). Group II showed high DI values for PCV (0.933) and MCV (1.146). Group III had lower values for red cell count (0.097), haemoglobin concentration (0.133) and MCH (0.91). Group IV showed lower platelet count. Group V had higher haemoglobin concentration values. Group VI yielded higher DI in the platelet count and group VII in the white cell count. Group VII showed the lowest DI for MCV and MHC. Group IX had high values for red cell count and MCH. In the coagulation field, group I had higher values for PT and AT-III. Group II showed higher DI values for PTT and fibrinogen. The highest CV values were seen in groups VIII and IX. The lowest values were present in group II for haemoglobin, IV for MCH, in V for PCV and MCV, in VII for red cell count and MCH, in VII for white cell count and in VII for platelet count. The coagulation tests showed lower CV values than cytometry, the lowest being for PT in group I and PTT and fibrinogenein group II. With regard to the influence of acceptable results on adverse ones within this group, the percentage of laboratories with mean DI over 2 were calculated. Thus, the laboratories achieved 43.5% of values within acceptable limits for platelet count and 56.7% for white cell count. Regarding the PCV, out of 47.9% of the laboratories, only 1.0% showed high deviation of some results. In the coagulation parameters, of the 37.2 in this group for AT-III, 32.4% showed a mean DI over 2. CONCLUSIONS: Participation in External Quality Assurance programmes contributes to the comparability of the results provided by different laboratories, thus increasing their accuracy and improving the quality of patient care.

Blood Cell Count↗
PubMed1995

[Iron and pregnancy].

Infants, young children, and childbearing aged women are particularly exposed to iron deficiency. Pregnancy further increases iron requirements. Nevertheless the consequences of anemia and/or iron deficiency on pregnancy outcome, development of the foetus and postnatal iron status of the infant, remain to be determined. There is a 3-fold increase of premature deliveries in iron deficient anemic pregnant women whose anemia is discovered in early pregnancy: however this increased risk of premature delivery is not observed when iron deficiency anemia is discovered in late pregnancy. Iron supplementation during pregnancy improves the maternal hematological parameters but it is still unclear whether it also improves the maternal health and the pre and postnatal development of the child. Based on our actual knowledge, iron supplementation during pregnancy is to be recommended in risk groups only (ie mainly adolescents, low income women, women with multiple pregnancies), using ferrous iron at a dosage of 30 mg per day.

Anemia, Iron-Deficiency↗
PubMed1994

An indirect fluorescent antibody technique for detection of anti-Dermatophilus congolensis antibodies in sheep.

An indirect fluorescent antibody (IFA) technique has been developed for detection of anti-Dermatophilus antibodies in sheep. Sera from 25 bacteriologically confirmed clinically affected sheep and from 10 negative non affected lambs were used. Whole cell antigen from brain heart infusion cultures of D. congolensis was used and all sera were tested in the same way for cross-reactivity against antigens obtained from cultures of Actinomyces viscosus, Micrococcus luteus, Nocardia asteroides, and Corynebacterium pseudotuberculosis. Sera from Dermatophilus-infected sheep gave positive results with D. congolensis antigen and negative results with the antigens from other bacteria. The whole cell antigens employed were simple to prepare and easy to recognise by microscopy. Cross-reactivity was further tested using the D. congolensis culture whole cell antigen and 3 sera from sheep with bacteriologically confirmed natural infections due to Corynebacterium pseudotuberculosis, Actinomyces pyogenes and Nocardia asteroides. None of these sera showed positive reactions. The authors recommend this technique for serological surveys and research on dermatophilosis.

Actinomycetales↗
PubMed1994

HTLV type I and HTLV type II infection among Indians and natives from Argentina.

Endemic foci for HTLV-II infection have been identified in several Amerindian populations. To determine HTLV-I and/or HTLV-II infection among Amerindians living in Argentina we studied 454 sera or plasmas from Indians and natives from different areas of our country. All samples were tested by the particle agglutination technique, and positive reactions were confirmed by the immunofluorescence assay (IFA). IFA titration was used to differentiate HTLV-I and HTLV-II antibodies. Twenty-three of 222 samples (10.4%) were found positive among the Tobas Indians; 22 samples were typed as HTLV-II and 1 as HTLV-I. Antibodies for HTLV-I were found in the serum and CSF of three natives from Salta with a TSP diagnosis. No positive samples were found among 96 Mapuche Indians and 133 natives from San Luis. Our results indicate that HTLV-II is endemic among the Tobas Indians. In this study, infection by these retroviruses in Argentinian Amerindians seems to have a marked geographic distribution.

Adolescent↗
PubMed1994

Committee report: childhood diet and prevention of coronary heart disease. ESPGAN Committee on Nutrition. European Society of Pediatric Gastroenterology and Nutrition.

Coronary heart disease is a major cause of morbidity and mortality in Europe, particularly northern, central, and eastern Europe. Several strategies have been recommended for children and adolescents to promote a healthy lifestyle and thereby reduce the risk of coronary heart disease in later life. The European Society of Pediatric Gastroenterology and Nutrition (ESPGAN) Committee on Nutrition reviewed some of these strategies, and our conclusions and recommendations are reported herein.

Adolescent↗
PubMed1994

[Sulfite oxidase deficiency presenting as Leigh syndrome].

BACKGROUND: An enzyme deficiency can be demonstrated in 15 to 20% of cases of Leigh syndrome. A case of isolated sulphite oxidase deficiency is reported in a girl presenting with Leigh syndrome. CASE REPORT: An 8 month-old girl was admitted suffering from hypotonia and slow increase of head circumference (-1 SD). Examination showed spastic quadriplegia, dyskinesia, axial hypotonia and difficulties in swallowing. The patient had a coarse face, broad nasal bridge, long philtrum and ectopia lentis. Brain CT scan showed bilateral hypodensity of lenticular nuclei and moderate cortical atrophy. Amino acid chromatography showed accumulation of S sulfocysteine and low levels of cysteine. The sulphite test was positive. Sulphite oxidase activity in fibroblasts and liver was undetectable contrasting with a normal activity of xanthine oxidase. Progressive brain damage led to death at 1 year of age. Prenatal diagnosis of sulphite oxidase deficiency was made in two further pregnancies. CONCLUSIONS: The search for sulphite oxidase deficiency must be included in discussing the etiology of Leigh syndrome; the sulphite test is a simple method of screening such cases.

Diagnosis, Differential↗
PubMed1993

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

Taking advantage of the 'illegitimate' transcription of the phenylalanine hydroxylase (PAH) gene, we have been able to analyse the PAH cDNA sequence of hyperphenylalaninemic children in circulating lymphocytes. Using this approach, we have also identified 3 novel mutations in cDNA from liver and lymphocytes of two patients. One mutation, detected by the abnormal pattern of migration of an amplified fragment, is a C to T transition in the splice acceptor site of intron 10, which resulted in the skipping of exon 11 with the premature termination of RNA translation downstream from exon 12 (-3 IVS10). The other two mutations are missense mutations in exons 10 and 11 (respectively, L333F and E390G). The present study supports the view that circulating lymphocytes give easy access to PAH gene transcripts whose nucleotide sequence is identical to that reported in liver and therefore represent a useful tool for molecular genetic studies in phenylketonuria.

Amino Acid Sequence↗
PubMed1993

Genetic background of clinical homogeneity of phenylketonuria in Poland.

In order to elucidate the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland, a total of 71 children with typical phenylketonuria (PKU) originating from western and northern Poland were screened for 13 mutations in the phenylalanine hydroxylase (PAH) gene. Eighty percent of all PKU alleles tested were found to carry an identified mutation. One mutation, namely the R408W mutation, accounted for more than 63% of mutant PAH alleles in Poland, the other 27% being accounted for by six mutations: IVS12nt1 (5%), IVSnt546 (5%), Y414C (4%), R252W (1.5%), R261Q (< 1%), and G272ter (< 1%). The predominance of the R408W mutation resulted in a high rate of homozygotes (35.2%) and compound heterozygotes for this mutation in children from western and northern Poland. The frequency and deleterious nature of this mutation probably accounts for the clinical homogeneity and severity of the hyperphenylalaninaemias in Poland. In addition, the high rate of the R408W mutation and its association with mutant haplotype 2 at the PAH locus in Poland give additional support to the Balto-Slavic origin of this mutant gene.

Base Sequence↗