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Biomedical subjects

M Voyer

Publications and source records attributed to M Voyer.

At least 55 records · Page 3Linked to original sources

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.

Beckwith-Wiedemann Syndrome↗

Human milk lacto-engineering. Growth nitrogen metabolism, and energy balance in preterm infants.

Fourteen 3-day metabolic balance studies were carried out in 8 healthy male preterm infants (birthweight 1 270 +/- 170 g, gestational age 30 +/- 2 weeks) fed 183 +/- 7 ml/kg/day of a human milk formula made of incompletely skimmed human milk enriched with lyophilized whole human milk, minerals, medium chain triglycerides and linoleate. Daily intakes per kilo bodyweight were for protein 3.5 +/- 0.3 g, fat 7.0 +/- 2.1 g, and energy 573 +/- 88 kJ (137 kcal). Weight gain was 29 +/- 5 g per day and nitrogen retention was 317 +/- 52 mg/kg/day. Fat absorption was 76 +/- 12%. Renal acid and solute loads were low and there was no metabolic acidosis, hyperazotemia or hyperaminoacidemia, except for tyrosine. It is concluded that preterm infants fed a human milk formula have similar growth rates and nitrogen retentions as foetuses in utero or preterm infants fed their own mother's milk.

Birth Weight↗

[Outcome of 404 premature infants born before 32 weeks of gestation in 1978-1980].

The outcome of 404 prematures born before 32 weeks of gestation and admitted on the first day of life to the Institut de Puériculture (IP) in 1978-1980 was studied with respect to post-menstrual age and birth weight: 83 (20,5%) died during the hospitalization. Of the 321 still alive after the neonatal hospitalization, 71% were followed until at least 2 years of age; 3,1% died unexpectedly at home. There was a 8% handicap rate (9 with cerebral palsy and 9 with psychomotor deficiency) in the survivors. The problems of the children without handicap consisted mostly of strabismus and psychosocial disturbances. Thus, on admission to the IP on the first day of life during 1978-1980, according to gestational age (a) less than 28 weeks, (b) between 28 and 29 weeks 6 days (c) between 30 and 31 weeks 6 days, a premature presented the following risks: death during hospitalization: (a) 47%, (b) 20% and (c) 15%; death at home (b) 5%, (c) 1%; handicap (a) 3%, (b) 10%, (c) 5%; normal survival (a) 47%, (b) 63%, (c) 75%. This study shows the value of gestational age in estimating the outcome of prematures and the utility of analysing the results according to the 2 variables of gestational age and birth weight.

Persons with Disabilities↗

[Bronchopulmonary dysplasia].

A retrospective study of 2 125 preterm infants, who were ventilated at the Institut de Puériculture in Paris over 9 years (1974-1982) for respiratory distress at birth, showed that 45 (2%) developed clinical and radiological bronchopulmonary dysplasia (BPD): 8 minimal forms, 23 moderate forms and 14 severe forms, 30 of these patients survived (66%). The pathogenesis of this chronic respiratory disease is multifactorial: oxygen + pressure + duration + endotracheal intubation. Efforts should be made to limit the damaging effect of each of these factors, which should be kept down to the minimum values compatible with adequate oxygenation. The presence of emphysema and of a patent ductus arteriosus has also been incriminated, but they may reflect the severity of the initial lung lesion. Rickets, whose incidence was found to be 27%, majors respiratory distress. In the ensuing months, babies with BPD are susceptible to recurrent viral or bacterial respiratory tract infection, failure to thrive and cor pulmonale. The presence of the mother and the care of a psychomotor development specialist are needed for these infants who will be confined for months in conditions which are unsuited to their sensory, physical, emotional and cognitive development.

Autopsy↗

Zinc balances in preterm infants.

Zinc balances were studied in three groups of preterm babies. The first group received bank human milk of 25% concentration, the second group bank human milk enriched with 1 g/100 ml of lactalbumin hydrolysate, and the third group an industrial formula in which 40% of the fats were replaced with medium chain triglycerides (MCT). Zn intakes (microgram/kg/day) were, respectively, 796 +/- 136 (group 1), 689 +/- 231 (group 2), and 252 +/- 67 (group 3). In all 3 groups, fecal Zn excretion was very high: range; 6,862-635 micrograms/kg/day (group 1), 3,022-194 micrograms/kg/day (group 2), and 304-27 micrograms/kg/day (group 3), respectively. Zn retentions were mostly negative for groups 1 and 2 (7/8 and 18/23, respectively), and mostly positive (12/14), for group 3. Zn absorption was found to be related to fecal fat (p less than 0.001) in all groups, and in group 1 and 2 to fecal N (p less than 0.001) and Zn intake (p less than 0.02). Positive zinc balances were obtained when fat and nitrogen absorption exceeded 90%. This was achieved at 280 days of postmenstrual age in preterm babies fed bank human milk, but much sooner in preterm babies fed with MCT.

Diet↗

[Creatine kinase BB sera in neonatal injury children (author's transl)].

The purpose of this study is to find, besides the determination of lactate in blood, a suitable and specific indicator of brain damage in newborn. Accordingly, we studied the total creatine kinase (CK) activity, by the method of Rosalki, and its subunit isoenzymes BB (CK BB) by fluorescence following electrophoresis on cellulose acetate. A first group (thirty newborns) without any disease represents our taest group. We havae found that the normal ranges for CK total were elevated (about 7 200 nkat/l). Electrophoresis of sera from these patients showed in addition to the normally migration isoenzyme (CK BB) was present in very small amounts, no sufficient for quantification. A second group was constituted to thirty ill newborns, with perinatal brain damage. In twenty-eight to thirty children, we find a significant correlation between the level of CK BB and brain insult. But, we have showed that it was necessary to take in consideration the time passed between the hypoxic insult and the blood puncture. Otherwise, we showed by immuno inhibition with specific antibody and by chromatography with gradient elution that identification of CK BB by electrophoresis cannot be misinterpreted. Furthermore, we demonstrated by this method, that position of CK 1 BB in blood is exactly the same that an purified human extract. This study concluded that a high level CK 1 BB in blood of newborn infants with perinatal brain damage has an accurately diagnosis value, if the blood puncture is done immediately during the severe CNS damage.

Acute Disease↗