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Biomedical subjects

P Ardouin

Publications and source records attributed to P Ardouin.

At least 37 records · Page 2Linked to original sources
PubMed1981

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.

Assessment of urinary pterins is proposed as a rapid method for recognition of the variants of hyperphenylalaninemia. This is achieved by means of oxidation of pterins by iodine in acidic and alkaline solutions and then by high performance liquid chromatography on a cation-exchange column with fluorimetric detection. In biopterin-synthetase deficiency, only neopterin accumulated; in dihydropteridine-reductase (DHPR) deficiency and in phenylketonuria, high levels of pterins are found, but BH4 levels, absent in the former and high in the latter, allow a differential diagnosis. Phenylalanine loads in the controls also lead to increased elimination of pterins, but with a pattern different from that found in phenylketonuria. This method can be used before dietary treatment and thus can be proposed for all newly detected hyperphenylalaninemic babies.

Adolescent↗
PubMed1981

Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.

The application of high performance liquid chromatography to the estimation of urinary pterins is illustrated by results from normal subjects and from patients with phenylketonuria, dihydropteridine reductase deficiency and biopterin synthetase deficiency. In normal subjects following a phenylalanine load the is a temporary increase in pterin elimination, the pattern being different to that seen in chronic hyperphenylalaninaemia.

Adult↗
PubMed1978

[Diagnosis and management of the aminoacidopathies (author's transl)].

Since its description by Garrod, the concept of the "inborn errors of metabolism" has become a clinical reality that the physician cannot ignore. The aminoacidopathies represent a group historically notable in that they represent the first diseases recognized as metabolic in origin (alcaptonuria, albinism) and for which some measure of therapeutic success can be claimed. Dietary prophylaxis of the encephalopathy of phenylketonuria is a prominent example. Much progress has been made in the understanding of the aminoacidopathies that touch upon aspects as diverse as semiological study and prevention by pre- and neo-natal diagnosis. This brief overview presents the basic clinical, biochemical, genetic, physiopathological and therapeutic principles of these diseases. It provides representative examples of the diagnostic approach and draws particular attention to the need and the role of cross-disciplinary teamwork in the diagnosis and continuing care of the patient. While we wait for new methods of genetic correction, the main goal must be to prevent the clinical consequences of the metabolic defect.

Amino Acid Metabolism, Inborn Errors↗
PubMed1969

Patient identification for computer data linkage.

To permit linkage of computerized patient data obtained from different sources, a universal and efficient method of patient identification is necessary. A coding system of 16 characters with a high degree of discrimination is proposed. The first five characters code the individual's family name, the next four his given name; the next six digits are his date of birth expressed in day, month and year; and the last character codes his sex. This system, using readily available patient information, is simple to manipulate and generates codes that are also medically informative. When this method of identification was tested on a list of 18,000 persons, no identical codes were found.

Canada↗
PubMedDate not supplied

[Study of scalp hair patterns in the newborn infant].

A study of scalp hair patterns in 503 healthy patterns in 503 healthy neonates (260 boys and 243 girls) of more than 36 weeks gestation produced the following observations: 1.--A single whorl situated to the right of the midline in a clockwise rotation is the most frequent pattern. 2.--In 5.96% of cases there is a pattern not previously identified which we have called triradius and which is characterised by the arrangement of three locks of hair without a clear clockwise rotation. 3.--75.4% of the patterns, whatever their type, are located 2 to 4 cms from the posterior fontanelle. 4.--The percentage of whorls, double whorls, triradii and their position (right, left of midline) are significantly different according to sex. 5.--By contrast there is no significant racial difference in these parameters.

Ethnicity↗
PubMedDate not supplied

Antitumour activity of a new water-soluble nitrosoureido sugar: CY233 (NSC 609224).

L1210 leukemia was used to evaluate the antitumour activity in vivo of CY233 (NSC 609224) a new water-soluble nitrosoureido derivative of deoxysugar currently being studied in preclinical trials. The antitumour activity of CY233 is dose-dependent with the same large therapeutic index whatever the route of administration (I.P., I.V., per os). Thus starting from a single dose of 10 mg/kg (less than 25% of the LD50), 80% to 100% of mice survive at 120 days, whether the drug is being administered I.V., I.P. or P.O. These results clearly emphasize the very original and promising potentiality of CY233 among the series of alkylating agents, and more precisely nitrosoureas.

Animals↗