Biomedical subjects
Publications and source records attributed to M Deiber.
A 16-day-old girl with Waardenburg syndrome type 1 presented with a right multicystic dysplastic kidney (MDK) and hydronephrosis in the left kidney. To our knowledge, such an association has not yet been reported and should be added to the list of MDK-associated genetic syndromes.
Brain regions activated with complex sequential finger movements were localized by measuring regional cerebral blood flow (rCBF) with positron emission tomography. Whereas the total number and frequency of finger movements were kept constant, the complexity of auditory cued sequential finger movements of the right hand varied, with sequence length as the independent variable. In four conditions of differing complexity, the bilateral primary sensorimotor area, left ventral premotor cortex, posterior supplementary motor area, right superior part of the cerebellum, and left putamen were consistently and equally activated. This finding suggests an executive role in running sequences, regardless of their length. The right dorsal premotor cortex (Brodmann area 6) and the right precuneus (Brodmann area 7) showed a linear increase of rCBF as sequence complexity increased. This finding is consistent with the hypothesis that these areas function in the storage of motor sequences in spatial working memory and the production of ongoing sequential movement with reference to that of buffered memory. A similar increase in the cerebellar vermis and the left thalamus likewise suggests a role of these subcortical structures in complexity of sequential finger movements. Conversely, the left inferior parietal lobule showed a decrease of rCBF as complexity increased. Because short-term phonological storage is localized to this area, we suggest that the visuospatial working memory system may suppress other systems not in use. Our findings suggest that complex sequential finger movements recruit a discrete set of brain areas, in addition to areas underlying the execution of simple movement sequences.
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Basal plasma GH levels and the GH responses to an injection of 1 microgram/kg 1-44(NH2) GHRH were determined on day 3 postnatally in 5 small gestational age (SGA) twin newborns and their appropriate gestational age (AGA) co-twins, and in 10 SGA singleton newborns and 6 AGA singleton newborns. The mean basal plasma GH level was higher in the SGA than in the AGA infants but the difference was significant only for singleton newborns (p less than 0.01). The mean peak plasma GH level was markedly increased in SGA compared to AGA infants (p less than 0.05 for twins, p less than 0.01 for singletons). Twelve SGA infants re-tested at 1 month had lower basal and peak plasma GH levels (p less than 0.001 and p less than 0.01). In 21 SGA and 17 AGA infants, serum IGF-I, measured by RIA between 12 and 96 hours after birth, was significantly higher in SGA than in AGA (p less than 0.001). These results suggest that, whatever the mechanism, functional hypersomatotropism is present at day 3 in SGA infants. This hypersomatotropism may participate in the early catch-up growth process.
Seventeen premature babies were ventilated with high frequency oscillation (HFO) for severe hyaline membrane disease. The results were compared to a group of 16 babies ventilated with classical positive pressure ventilation and presenting with hyaline membrane disease of the same severity. The results demonstrated an improvement of the mortality rate with HFO without any significant difference of pulmonary or neurologic complications. Furthermore, a controlled study in order to demonstrate an improvement of this type of ventilation is required.
In a retrospective study of 83 preterm newborns of 32 weeks of gestation or less, isolated periventricular leukomalacia was found in 7 cases (8.4%). Ultrasonographic diagnosis was made in all cases during the first 3 days of life and cystic lesions always occurred during the first 40 days. Five of the 7 newborns suffered from in utero asphyxia, 4 had an Apgar score below 5 at 5 min, and only 4 presented a respiratory distress syndrome. Thus the diagnosis of periventricular leukomalacia can be established early by ultrasonography. In utero asphyxia seems to be a critical determinant of ischaemic brain lesions.
Twenty-nine newborn infants with diaphragmatic hernia have been received in a neonatal intensive care unit over a seven year period. In three cases, clinical signs appeared after the first day: they all survived. Six infants died before surgery: five of them had major pulmonary hypoplasia. Surgery was performed in twenty cases: nine of these infants died. Death occurred during the first twelve post-surgical hours in six cases with major pulmonary hypoplasia. Fourteen infants were followed from 6 to 24 months; two developed post-anoxic hydrocephaly with poor neurological development in one case. A pH above 7.1 and an adequate hemodynamic status obtained before surgery are simple criteria of a good prognosis. When these criteria are not obtained, prognosis is poor as they are in favor of major pulmonary hypoplasia.
In a three years retrospective evaluation, the authors point out an important increase of hemophilus influenzae meningitis. This germ, who seem to be actually the first cause in infants bacterial meningitis, set the problem of his Ampicillin resistance (10-15% of cases). It is therefore necessary to change first treatment of these meningitis. Cefotaxime which has been prescribed to 50% of cases gives satisfactory results.
A child with buphthalmos and glaucoma, facial hemihypertrophy and plexiform neuroma of eyelid secondary to neurofibromatosis is described. Diagnostic, pathogeny, treatment are discussed.
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