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Biomedical subjects

D Bonneau

Publications and source records attributed to D Bonneau.

At least 91 records · Page 5Linked to original sources
PubMed1992

[The Harlequin Baby syndrome. A new case].

The Harlequin baby syndrome is a rare but lethal ichtyosis. We report a new case of a primiparous woman of 28 years of age who had a pregnancy that progressed normally with the delivery of a child of 2,450 grams whose Apgar was 9 at one minute and 10 at three minutes, but who died after living just 24 hours. The reason for this work is to try to analyse the features that are known about possible treatment and antenatal diagnosis of the Harlequin baby syndrome. It has been suggested that vitamin A supplements should be given for several years because the skin state may be improved. On the other hand morbidity is likely to remain serious particularly from the point of view of growth and psychomotor development. Antenatal diagnosis using skin biopsy can be obtained after 23 weeks of amenorrhoea using a fetoscope; it shows the 25% of cases recur. At present the only treatment if a recurrence does occur is to terminate the pregnancy.

Abortion, Therapeutic↗
PubMed1991

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.

Cells, Cultured↗
PubMed1991

Optimum associations of tester strains for maximum detection of mutagenic compounds in the Ames test.

The Ames test is now widely used as a short-term test for the detection of mutagens. Different strains are available with various genetic characteristics, and in the past decade various authors have recommended different associations of strains to give maximum detection potential. However, few studies have been done to compare the sensitivity of individual strains towards a wide range of compounds in a single study. In order to define the best association of strains for screening or regulatory purpose, we have tested 103 direct mutagens (reference genotoxins or in-house compounds) on 7 strains of Salmonella typhimurium: TA1535, TA1537, TA1538, TA97, TA98, TA100 and TA102. 126 different associations of strains have been studied in terms of sensitivity and percentage overlap. Optimum associations of 2, 3, 4 or 5 strains included strains both with and without plasmid pKM101. However, the specificity of detection is greatly diminished by the presence of plasmid pKM101 in the strain, as shown by the high degree of overlap in associations constituted entirely of strains containing the plasmid. The association of strains TA1538 and TA100 detected 86% of the chemicals tested and is therefore recommended for large-scale screening. A rate of detection of 100% was obtained when 6 strains were used. The best associations of 4 and 5 strains, which detected 97 and 99% chemicals respectively, all contained strains TA1537, TA1538 and TA102. Finally, the associations of 4 strains (TA1537, TA1538, TA100, TA102) or 5 strains (TA1535, TA1537, TA1538, TA97, TA102) seemed well adapted to the optimum detection of mutagenic compounds.

Mutagenicity Tests↗
PubMed1991

[Human parvovirus B19 infection during pregnancy. 2 cases].

We report two cases of non immunologic hydrops fetalis associated with intra-uterine human parvovirus B19 (PV B19) infection. The outcome was stillbirth in both cases. Infection by PV B19 was suspected by the presence of intranuclear inclusions in fetal erythroblasts. It was confirmed by the presence of specific immunoglobulins M (IgM) against PV B19 in maternal sera. Intra-uterine infection with human PV B19 is known since 1984; this virus may cause non immunologic hydrops fetalis and stillbirth; teratogenic effects have also been suggested. Epidemiological studies, published in 1988 and 1990 have evaluated the risk of PV B19 fetal related death at 9% and no association was found between infection and congenital anomalies. Subsequent management of infected pregnancies is studied. We emphasize the interest of pathological examination of hydropic stillbirth for this diagnosis.

Adult↗
PubMed1991

[Materno-fetal infection by Chlamydia psittaci transmitted by the goat: a new zoonosis?].

A case report is given of spontaneous abortion at 32 weeks brought about by Chlamydia psittaci following contact with a herd of goats. Severe symptoms were observed post-natally in this woman. Nine cases of materno-foetal infection with this pathogen are known, however, the source of infection is usually ewes suffering abortive chlamydiosis. Goats may also be infected, but caprine origin for the disease in pregnant women has not been reported previously.

Abortion, Spontaneous↗
PubMed1990

Clinical and genetic heterogeneity in retinitis pigmentosa.

The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macular involvement. In the severe form, macular involvement occurred within 10 years, while in the mild form, macular involvement occurred after 20 years. Interestingly, a significant increase of mean paternal age (38.8 years, mean controls in France = 29.1 years, P less than 0.001) was found in this form of RP, a feature which is suggestive of new mutations. For autosomal recessive RP, four significantly different clinical subtypes could be recognized, according to both age of onset and the pattern of development (P less than 0.001), namely cone-rod dystrophy and early-onset severe forms on the one hand (mean age of onset = 7.6 years), late-onset mild forms and senile forms on the other. Similarly, two significantly different clinical subtypes could be recognized in X-linked RP, according to both mode and age of onset, which were either myopia (mean age = 3.5 +/- 0.5 years) or night blindness (mean age = 10.6 +/- 4.1 years. P less than 0.001). By contrast, no difference was noted regarding the clinical course of the disease, which was remarkably severe whatever the clinical subtype (blindness before 25 years). In addition, all obligate carriers in our series were found to have either severe myopia or pigment deposits in their peripheral retina. Finally, sporadic RP represented the majority of cases in our series (42%). There was a considerable heterogeneity in this group, and at least three clinical forms could be recognized, namely cone-rod dystrophy, early onset-severe forms and late onset moderate forms. At the beginning of the disease, the hereditary nature of the sporadic forms was very difficult to ascertain (especially between 7-10 years) and only the clinical course could possibly provide information regarding the mode of inheritance. However, the high level of consanguinity, and the high sex ratio in early onset and severe sporadic forms (including cone-rod dystrophy), was suggestive of an autosomal or X-linked recessive inheritance, while increased paternal age in late onset forms was suggestive of autosomal dominant mutations.

Adolescent↗
PubMed1990

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

Usher syndrome is an autosomal recessive disease associating congenital sensorineural deafness and retinitis pigmentosa. Two clinical forms have been recognized, namely a) congenital and severe (type I) and b) later and moderate (type II). A linkage of the D1S81 probe (THH 33) with the gene for type II has been recently demonstrated by Kimberling et al. 1990. Here, a panel of 29 individuals from 6 kindreds with Usher syndrome type I has been tested for possible allelism at the D1S81 locus. A negative lod-score was found with this probe and close linkage to this region could be excluded. These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.

Blotting, Southern↗
PubMed1989

Hemolysis during cardiopulmonary bypass.

Hemolysis of red blood cells is a problem during cardiopulmonary bypass. The present study was undertaken to evaluate the influence of the priming solution and of the initial acceleration of the pump on red blood cell trauma and hemolysis. Eighty adult patients undergoing coronary artery grafting with cardiopulmonary bypass (CPB) were randomly assigned to one of four groups according to the nature of the priming solution and the initial speed of CPB flow (time from the start to the full calculated flow): group 1, lactated Ringer's (LR) with 5% dextrose (5%D), 1 minute; group 2, LR5%D, 2 minutes; group 3, LR, 1 minute; group 4, LR, 2 minutes. Plasma hemoglobin was found to be 4 times higher in group 1 than in the three other groups (P less than 0.001). It is concluded that there is an interaction between the presence of glucose in the priming solution and the initial acceleration of pump flow. The combination of LR5%D prime with a short time interval to full pump flow leads to a significant degree of hemolysis.

Adult↗
PubMed1989

[Congenital pseudohypoaldosteronism: apropos of 6 cases].

Pseudohypoaldosteronism is a congenital disorder, with an as yet unclear pathophysiology, mode of inheritance and frequency. We have recently diagnosed 6 cases in a relatively short period of time, which suggests that the frequency of the disease may be underestimated. This may be due to a high variability in the clinical expression and to the existence of asymptomatic forms. Autosomal dominant and autosomal recessive modes of inheritance have been reported which probably correspond to different underlying mechanisms.

Chromosome Aberrations↗
PubMed1988

[Serum levels of IgG subclasses in the normal child. Evaluation by an immunoenzymatic method using monoclonal antibodies].

Serum IgG subclass levels were measured by an immunoenzymatic assay with monoclonal antibodies in 225 normal children aged 1 to 17 years. Adult concentrations of IgG1 and IgG3 were reached early (2 to 3 years of age), with mean IgG1 level slightly higher in children than in adults, whereas IgG2 and IgG4 showed a slow increase. Mean IgG2 levels in children aged 13 to 17 were still significantly lower than in adults. The distribution of IgG4 levels in every age group was very heterogeneous, with a fair incidence of subthreshold concentrations especially before 5 years of age. These data must be taken into account when defining IgG subclass deficiencies in children.

Adolescent↗