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Biomedical subjects

M Thieuleux

Publications and source records attributed to M Thieuleux.

7 recordsLinked to original sources

Trisomy 16q23----qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique.

We describe a female new-born with partial trisomy of the long arm of chromosome 16. The chromosome anomaly was the result of an unbalanced segregation of a maternal translocation t(13;16)(p12;q23). Dynamic (RBG, GBG) banding and the Ag-NOR technique ascertained the reciprocal balanced maternal translocation between the 16q23----qter and 13q12----pter segments because nucleolar organizers were present on the tip of long arms of the derivative 16 maternal chromosome. As monosomy 13p has little or no deleterious effect we consider our case as exhibiting the phenotype of trisomy 16q23----qter free from any monosomic feature. Clinical effects are of less consequence as compared with previously published cases of partial trisomy 16q.

Chromosome Banding

[Neonatal systemic candidiasis].

An immature cellular immunity, the prolonged use of intravascular catheters and the administration of broad-spectrum antibiotics are the principal factors responsible for systemic Candida infections in premature babies. Six infants born at less than 33 weeks and weighing 1500 grams presented with signs of non-specific septicaemia; blood cultures were positive for Candida. All were cured with a treatment consisting of 5-fluorocytosine in 5 cases; amphotericin B was required in one case. This experience authorizes us to recommend 5-fluorocytosine as first-choice treatment of systemic candidiasis in premature babies. We also believe that priority should be given to a policy of eradication of Candida in all neonatology units.

Aminoglycosides

[The cytomegalovirus in perinatal medicine].

The epidemiology of the cytomegalovirus and the characteristics of mother-to-foetus transmission indicate that most neonatal infections (0.5 to 2% of live births) are due to reactivation of a latent virus during pregnancy. These infections are, and probably remain, subclinical. Even in case of primary infection, there seems to be little risk for the foetus. However, the patent forms of the disease are so serious that an effective and safe immunization method is highly desirable.

Cytodiagnosis

[Ultrasonic diagnosis of periventricular leukomalacia in premature infants].

The ultrasonographic study through the fontanelle of 192 children below 33 weeks of age and surviving after the neonatal period led to the diagnosis of leukomalacia by identifying anechogenic cavities in the periventricular area in 7 cases. Clinical pictures were not characteristic. Important electro-encephalographic changes were constantly found, even before the occurrence of sonographic signs. Although non specific they are still suggestive when associated hemorrhage is not present. With these criteria, diagnosis seems to be correlated with severe neurologic prognosis. Its interest and chronology warrant the extension of the ultrasonographic supervision of severely immature infants up to the end of the second month.

Brain Ischemia

[Systematised interstitial emphysema in neonatal respiratory distress. Four cases (author's transl)].

Localisation in one lung only or in one lobe only of lesions of interstitial emphysema is surprising in a diffuse disease such as hyaline membrane disease in premature infants. In the four patients in which this unusual course was seen, cure was obtained in different ways: spontaneously in one case, by excision of a diseased lobe in two cases and by selective temporary intubation of the contralateral main bronchus in the final case. Current methods of treatment of neonatal respiratory distress favour this type of course, without any precise cause being evident. Excision surgery is often avoidable by transient ventilation of the contralateral lung only by selective intubation of the main bronchus.

Emphysema

[Discharge to the family milieu of low birth weight children. Analysis of an experience with "early discharge" in a neonatology unit].

A retrospective study of 182 children with birth weights less than or equal to 2,000 gms was undertaken. Its analysis showed that heterogeneity in discharge weights (1,580 to 3,400 gms) corresponded to an homogeneous average gestational age, around 39 weeks. Low discharge weights were neither correlated with the pathology of the first days, nor with the socio-economic status of the family. The majority were children born with intra-uterine growth retardation, who mature more rapidly and who might be given to their families earlier, with lower weights. There was no correlation between discharge weight and a second hospitalization during the first year. A policy of "early" discharge did not seem to have disadvantages, while its advantages are unquestionable.

Body Weight