Interstitial dup(1p) and severe intrauterine growth retardation.

An 1,860 g baby girl was born spontaneously after a 38 weeks pregnancy with important foetal hypotrophy and died at 6 weeks of life. She had an inverted duplication of a small part of the short arm of chromosome 1p:46, XX, inv dup(1) (pter p31::p11p13::p31 ter). This observation is compared to three others reported in the literature with intrachromosomal duplication of 1p.

[Necrotic funisitis]. / Funiculites nécrotiques.

The authors report eighty eight cases of a perticular type of funisitis characterized by perivascular necrosis of Wharton's jelly. The accompanying leucocyte reaction is weak, and sometimes nil, and the inflammatory lesions of the placenta are also moderate, and sometimes absent. The necrosis of the cord is, however, sufficiently pronounced to be visible to the naked eye. The neonate is often--but not always--very premature, but rarely shows clinical signs of infection (only one case in five). It nonetheless presents with hyperleucocytosis from birth, often severely, but this clears up within a few days, even in the absence of antibiotherapy. A very high rate of blood IgM is also often observed in these infants, on the day of birth. Immediate survival and postnatal development often present no problems. The etiology is not known. There are indirect arguments in favor of a rare germ which cannot be visualized by routine techniques, or possibly a virus. But this remains to be proved. Some observers have suggested that it is the fruit of a particular diathesis, with a tissular reaction to a non-infectious aggression by some modification of the amniotic fluid but this too remains to be established.

Macromolecular transport in jejunal mucosa of children with severe malnutrition: a quantitative study.

Small intestinal permeability to horseradish peroxidase (HRP) was assessed in jejunal biopsies of malnourished children. Clinical examination, intestinal function (D-Xylose test), and the histological appearance of the mucosa were assessed in 14 children during the malnutrition phase and in eight children after 3 months of nutritional rehabilitation. Macromolecular permeability was evaluated by measuring transepithelial HRP fluxes from mucosa to serosa (JHRPms) using Ussing chambers. Intact HRP transport, i.e., nondegraded protein transport, was measured by enzyme assay, and tritiated HRP was concomitantly used to measure intact and degraded HRP fluxes (J[3H]HRPms). Electrical parameters (short-circuit current, potential difference, and ionic conductance) were also recorded. Transepithelial HRP fluxes were significantly higher during malnutrition (JHRPms = 8.85 +/- 1.44; J[3H]HRPms = 77.11 +/- 10.66 pmol X h-1 X cm-2) than in the same children after 3 months of nutritional rehabilitation (JHRPms = 2.94 +/- 1.10; J[3H]HRPms = 22.93 +/- 8.15 pmol X h-1 X cm-2). The total ionic conductance, which is an index of paracellular permeability, did not change significantly. Calculated intratissue degradation of the protein did not appear to alter during malnutrition. These results point to a clinical situation in which malnutrition with diarrhea in children is associated with increased intestinal permeability to macromolecules by a mechanism not related to any paracellular leak of the protein, but rather to increased transcellular absorption.

[Bronchopulmonary dysplasia]. / Dysplasie broncho-pulmonaire.

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.

[Blood xylose as a screening test for malabsorption in jejunal mucosa abnormalities; importance of diet in interpretation]. / La xylosemie dans le depistage des malabsorptions avec anomalie de la muqueuse jejunale importance du regime dans son interpretation.

Blood xylose level 60 min. after an oral dose of 10 g/m2 xylose was compared with the histology of the jejunal mucosa in 56 children. Ninety-two percent of children with blood xylose below 20 mg/100 ml had an abnormal jejunal mucosa; 98% of children with a normal mucosa had a blood xylose above 20 mg/100 ml. In children with coeliac disease the following observations were made: 1) blood xylose was above 20 mg/100 ml in 50% of children with flat mucosa; all were given a diet excluding gluten; 2) blood xylose levels which were initially below 20 mg/100 ml were found above this level 3 to 12 days after the onset of the diet; 3) all the histological relapses following re-introduction of gluten in the diet were not associated with a decrease of blood xylose level below 20 mg/100 ml.