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Biomedical subjects

B Noël

Publications and source records attributed to B Noël.

18 recordsLinked to original sources
PubMed1978

[Assay of factors VIII and IX using an automatic system. Comparison of one- and two-stage techniques (author's transl)].

The assay of antihemophilic factors is the best test for the diagnosis of hemophilia. It is also necessary to control the products for the substitutive therapy and for monitoring the treatment. The assays may be carried out by a semi-automatic technique. The comparison between this technique and the manual techique in two stages shows that the values obtained in one stage are higher than those obtained in two stages. The automatic method in one stage is sufficiently reliable for estimating the hemophilic factors.

Autoanalysis↗
PubMed1978

[Length of Y chromosome, intelligence and behaviour in a mental penal population (author's transl)].

The Y/F ratio was established in 128 mentally disordered offenders in a maximum security hospital. The 50 Y/F greater than 0.90 subjects were compared with the 78 Y/F less than 0.90 subjects as regards intelligence and behaviour. With the exception of the highest frequency of intelligence quotients lower than 70 in the criminal patients Y/F greater than or equal to 0.90, no statistical correlation exists to support the theory of a relation between a long Y chromosome and the type of psychiatric (psychopathy, psychosis) or criminality diagnosis.

Adolescent↗
PubMed1978

Neurophysiological study of 47, XYY and 47, XXY psychopaths: contingent negative variation, evoked potentials and motor nerve conduction.

Neurophysiological investigations-including sensory-evoked responses, contingent negative variation (CNV), and nerve conduction velocities-were done in 11 male polygonosomic patients and in comparison with a control group. Some significant data are reported pointing out differences which may be related to a hypovigil type (47, XYY) and a hypervigil type (47, XXY). The importance of the CNV and conduction velocity as an index of a constitutional minimal brain dysfunction is discussed.

Adult↗
PubMed1978

Biogenic amines in 47, XYY syndrome.

47, XYYs represent a high percentage of patients admitted in security settings for aggressiveness. By using a polygraphic technique and amine metabolite estimation in the cerebrospinal fluid (CSF), an attempt was made to evaluate the functional activity of the central aminergic system of these patients. No drastic change was observed in sleep patterns of XYYs. The estimation of CSF amine metabolites revealed a normal value for homovanillic acid, but a significant decrease of 5-hydroxyindoleacetic acid turnover.

Adult↗
PubMed1978

[7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)].

Seven patients from two different families are trisomic 2q34 leads to 2qter due to segregation of a familial t(2;8)(q34;p23). The clinical features are characteristic: microcephaly, a narrow forehead with bossing and temporal retraction, hypertelorism, palpebral fissures slanted downwards, large irides, and a very concave margin of the lower eyelid. Mental retardation is severe with a mean IQ of 50.

Abnormalities, Multiple↗
PubMed1978

[Constitutional stereotyped gap in human chromosomes (author's transl)].

The stereotyped break with gap of a chromosomal variant is rarely observed. This anomaly is transmitted according to autosomal dominant rule. The distal part of the broken chromosome may either be still bound to the sister chromatid through mitotic non-disjunction, forming a triradial figure, or take a moniliform and pulverized appearance, evoking premature chromosome condensation.

Cells, Cultured↗
PubMed1978

[TRH test on 6 patients 47, XYZ (author's transl)].

A T.R.H. test has been made on 6 patients 47,XYY, living in a psychiatric hospital. The results show a thyroid disease with latent hypothyroidism whose origin seems to be hypothalamic, or pituitary or both.

Adult↗
PubMed1976

[Antisocial behaviour and variations in length of Y chromosome (author's transl)].

The length of they chromosome has been measured for 50 male criminals in a psychiatric security hospital and for 50 non criminal control men. The distribution was normal for the 2 populations and there was no significant difference between the mean Y/F, Yf/Y values and the number of brightly fluorescent segments. For criminal psychopaths, there was no close correlation between the size of the Y chromosome and the psychiatric or criminal background.

Chromosomes, Human, 19-20↗
PubMed1976

Human gene mapping using an X/autosome translocation.

Human fibroblasts containing a translocation between the X chromosome and chromosome 15 were fused with the 6-thioguanine-resistant mouse cell line, IR. Resulting hybrids, selected in HAT medium, retained the X/15 chromosome. Hybrids which were counterselected in 6-thioguanine lost this chromosome. The X-linked markers glucose-6-phosphate dehydrogenase (G6PD), phosphoglycerate kinase (PGK), and hypoxanthine phosphoribosyl transferase (HPRT), and the non-X-linked markers pyruvate kinase (PKM2) mannose phosphate isomerase (MPI), N-acetyl hexosaminidase A (HEXA) and beta2-microglubulin (beta2-m) all segregated in concordance with the X/15 translocation chromosome. The latter markers have been assigned to chromosome 15. Selection against the X/15 chromosome was done using antihuman beta2-m serum. Electrophoretic and immunochemical analyses of the N-acetyl hexosaminidases A and B in these hybrids were performed.

Acetylglucosaminidase↗
PubMed1976

[The r(22) syndrome, Apropos of 4 new cases].

Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.

Adolescent↗