A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleterious effect. An inventory through the French CF network of patients carrying p.Val754Met led to the registration of seven patients (CF: n=4; idiopathic chronic pancreatitis: n=3) and six healthy individuals, all heterozygous for the variation. Extensive CFTR gene analysis was carried out, including the search for large rearrangements and other possible mutations. The complex deletion, whose breakpoints are described here, was found only in the four CF patients, in association with the same haplotype. This data, added to the fact that the p.[Phe508del]+[Val754Met] genotype was found in a healthy individual, bring further arguments against the association of p.Val754Met with CF. We thus suggest looking for a possible complex allele whenever p.Val754Met is detected and considering it neutral regarding genetic counseling when found in isolation.

Value of examination of the gastric aspirate for the diagnosis of neonatal infection.

To evaluate the interest of examination of the gastric aspirate (GA) as a contribution to decision making of initial antimicrobial therapy, all 3,989 neonates delivered in Orléans Maternity Hospital in 1990 have been studied. Microscopic examination: polymorphonuclear leukocytes (PMN) were, respectively, absent/present/abundant in 180/130/25 treated (T) and in 2,567/1,032/90 untreated (NT) newborns. PMN were demonstrated in 2/5 documented, 4/6 obvious, 2/2 suspected and 34/58 possible infections. Bacteria were, respectively, absent/present/abundant in 201/109/46 T newborns and in 2,722/877/56 NT newborns. Bacteria were demonstrated in 3/5 documented, 4/6 obvious, 2/2 suspected and 32/58 possible infections. Culture: the number of initially T and NT newborns was, respectively, for each bacterial species: Enterobacteriaceae 33/294, streptococci B (GBS), D and alpha-hemolytic 60/107, 12/110 and 18/70, Streptococcus pneumoniae 2/2, anaerobes 12/402, Listeria 3/0, Haemophilus species 4/4, Staphylococcus aureus 5/7, coagulase-negative staphylococci 25/1335, Lactobacillus 14/345, corynebacteria 10/196. In the 5 newborns with documented early onset meningitis and/or septicemia, 3 grew with GBS, Escherichia coli and Listeria. In the 4 newborns (2 meningitis and 2 urinary tract infections) with late-onset infection, no positive GA could be demonstrated. Although microscopic examination and cultures were statistically more frequently positive in T newborns, with variations dependent on the species of bacteria, more newborns without infection were colonized whatever the bacteria. Thus, bacteriological results of GA, if considered out of the clinical context, cannot be an argument for treatment.

[Acute tuberculous meningitis in children. A report on 4 cases (author's transl)]. / Méningite tuberculeuse grave de l'enfant. A propos de quatre observations dans un service de réanimation.

Four children were treated for acute tuberculous meningitis. One child died and 2 others were left with severe neurological sequellae. The diagnostic and clinical signs of tuberculous meningitis are reviewed. Treatment includes the administration of an association of INH-rifampicine and ethambutol orally, or INH-ethambutol-ethionamide intravenously when oral administration is impossible. Intrathecal injections of rifamycine SV can be given for acute forms. Corticoids have only one indication: intracranial hypertension with cerebral edema, which requires surgical decompression if no improvement is obtained. The fact that cases of tuberculous meningitis are still notified, is a justification for early BCG vaccination and regular control of the tuberculin allergic reaction.

[Gastroschisis: study of a series of 50 cases from 1960 to 1976 and therapeutic indications]. / Laparoschisis: étude d'une série de 50 cas de 1960 à 1976 et indications thérapeutiques.

Fifty cases of gastroschisis were treated at the Hôpital des Enfants Malades from 1960 to 1976. Up to 1973, 90% of the babies died. From 1974-1976, 17 infants were treated and 10 (59%) were cured. The authors emphasise the importance of intravenous feeding, the prevention of infections and intensive respiratory care. Complete intestinal ileus for more than one month is associated with a bad prognosis. The use of drugs and further surgery in this situation in discussed.