[Necrotic skin lesions caused by pet rats in two teenagers]. / Lésions cutanées nécrotiques liées au Cowpox virus inoculé par des rats de compagnie.

We report 2 observations in young girls who, after exposure to domestic rats from the same pet shop, presented with inflammatory and necrotic skin wounds in the neck and face. Since lesions did not improve with antibiotic therapy, surgical excision of necrosis healed the wounds, with a 2nd intervention necessary in 1 patient. All bacteriological investigations appeared to be negative; finally, electron microscopy of excised subepidermal tissue and PCR characterization provided the diagnosis of cowpox virus (CPXV) infection. CPXV is part of the Orthopox virus genus, like variola virus, and is generally transmitted to humans by infected cats or rodents. CPXV infection should be kept in mind when macular, vesicular, or necrotic cutaneous wounds do not improve with antibiotics.

[Exposure of a cohort of newborn infants to tuberculosis in a neonatology service]. / Exposition d'une cohorte de nouveau-nés à une tuberculose bacillifère dans un service de néonatalogie.

INTRODUCTION: A nursery nurse that was working in the neonatology service had been diagnosed with tuberculosis. As a consequence, the newborn infants were in danger of a possible contamination during a 4-month period. METHODOLOGY: One hundred and thirty kids that had been in touch with the nurse were given attention. Prophylactic treatment for three months with isoniazid and rifampicin has been proposed to all families. Each of them was screened with a tuberculin sensitivity test and was given chest radiography initially and after three months. RESULTS: None of the children was initially suspected for tuberculosis. Among the chest radiographies, 97.6% were normal and all the intradermal tuberculin were either negative or in the norm following a vaccination by the Bacillus Calmette-Guerin. In most cases, the treatment tolerance was high. CONCLUSION: A 4-year-long surveillance ensured that no infant was infected. This procedure has established that the risk of transmission by a nurse is low, should it be for newborn babies, as long as guidelines are strictly adhered to.

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Congenital afibrinogenemia is an autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease in a non-consanguineous Swiss family. These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Our subsequent study revealed that the majority of cases were attributable to truncating mutations in FGA, with the most common mutation affecting the donor splice site in FGA intron 4 (IVS4+1 G-->T). Here, we report 13 further unrelated patients with mutations in FGA, confirming the relative importance of this gene compared with FGG and FGB in the molecular aetiology of afibrinogenemia. Three other patients were homozygous for mutations in FGG. Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia.

Subclinical vitamin D deficiency in neonates: definition and response to vitamin D supplements.

To determine the biological criteria for neonatal vitamin D deficiency, serum 25-hydroxyvitamin D (calcidiol), parathyroid hormone (PTH), calcium, phosphates, and alkaline phosphatase (ALP) activity were measured during the winter-spring period in 80 healthy neonates and their mothers 3-6 d after delivery. A longitudinal 3-mo survey of the serum biology of 52 of these neonates consuming formula was also performed to test the influence of their neonatal vitamin D status on the effects of two oral ergocalciferol supplements (500 and 1000 IU or 12.5 and 25 micrograms/d). At birth, 63.7% of the infants had calcidiol concentrations < or = 30 nmol/L. Most of them had no other biological sign evocative of vitamin D deficiency, but 14 neonates had low calcidiol concentrations and serum PTH concentrations > 60 ng/L, the upper limit of the adult normal range. They also had a significantly lower mean serum calcium concentration than did neonates with calcidiol concentrations > 30 nmol/L. On the basis of the association of low calcidiol concentrations (< or = 30 nmol/L) and high PTH concentrations (> 60 ng/L) as criteria for vitamin D deficiency, 24% of the neonates born to unsupplemented mothers were found to be vitamin D-deficient. Neonatal vitamin D status influenced the response of the infants to vitamin D supplements. Neonates with no sign of vitamin D deficiency showed similar changes in their serum calcidiol, calcium, phosphate, and PTH concentrations and ALP activity and no toxic effect (hypercalcemia or highly elevated calcidiol concentration) was observed whatever their vitamin D intake. In contrast, neonates with subclinical vitamin D deficiency had normalized serum PTH within 1 mo only when they were given 1000 IU ergocalciferol (25 micrograms)/d in addition to their formula.

[Fortified milk and supplements of oral vitamin D. Comparison of the effect of two doses of vitamin D (500 and 1,000 UI/d) during the first trimester of life]. / Laits enrichis et suppléments oraux en vitamine D. Comparison de l'effet de deux doses de vitamine D (500 et 1,000 UI/j) pendent le premier trimestre de la vie.

BACKGROUND: Administration of oral vitamin D supplements has been the usual strategy used in France for the prevention of rickets. But this strategy needs reevaluation since the fortification of infant formulas with vitamin D is authorized in this country. We report the effects of oral daily supplements of vitamin D on the calcium metabolism and vitamin D status of infants receiving or not fortified milk during the first trimester of life. POPULATION AND METHODS: Circulating levels of 25-hydroxyvitamin D (25-(OH)D) were measured: 1) in 64 infants aged 1 to 4 months, seen as outpatients between February and October, given oral vitamin D2 (theoretically 1,000 IU/d) and fed infant formulas, fortified or not with vitamin D; 2) in healthy neonates born to unsupplemented (n = 48) or supplemented vitamin D mothers (n = 22), between April and July, followed from birth (n = 70) to 3 months of age (n = 52), fed fortified milk, and given either 500 or 1,000 IU/D of vitamin D2. Serum calcium, phosphate, intact parathyroid hormone levels and alkaline phosphatase activities were simultaneously measured in this second study. RESULTS: In the first study, the infants who had been seen during the summer and fed fortified milk had 25-(OH)D levels higher than those seen during the winter and fed the unfortified formulas (37.0 +/- 11.2 ng/mL vs 29.1 +/- 9.7 ng/mL, P = 0.013). But when daily supplements of vitamin D2 were strictly controlled (second study), all infants fed the fortified milk had 25-(OH)D levels within the adult range (10 to 37 ng/mL) at 1 and 3 months of age, whatever their vitamin D status at birth and although these infants were seen during the summer. No difference was found between infants given 500 or 1,000 IU/d as regards their mean serum calcium, phosphate and alkaline phosphatase activities. In addition, the percentage of infants with calcemia above 2.60 mM/L was even lower with the 1,000 IU/d vitamin D dosage than with the 500 IU/d dosage. CONCLUSIONS: Daily supplements of vitamin D2 (500 to 1,000 IU/d) during the first trimester of life do not appear to induce a significant vitamin D overload when fortified milk is given to the infants. These supplementations may thus be maintained, especially when neonates are at risk of vitamin D deficiency.

Upper limb malformations in DiGeorge syndrome.

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions.

[Prognosis factors in severe bronchopulmonary dysplasia. A retrospective study of 65 premature infants with bronchopulmonary dysplasia]. / Facteurs pronostiques dans les formes graves de dysplasies bronchopulmonaires. Etude rétrospective de soixante-cinq prématurés bronchodysplasiques.

The annual incidence of bronchopulmonary dysplasia (BPD) is presently 1.3 case p. 1,000 alive births. The most severe forms of BPD are characterized by a prolonged oxygen-dependence and a spontaneous evolution marked by numerous complications which could be life-threatening. We studied retrospectively 65 premature infants with BPD who underwent ventilation for one month or more during the first weeks of life. Comparison between survivors and children deceased during the first year of life allowed for discerning 5 prognostic criteria: the nature and severity of initial respiratory disease, the respiratory improvement during the first trimester, the results of hematosis by age 3 months, the ability of maintaining and increasing the respiratory improvement while reducing the therapeutic management, the weight and head circumference gains. The respective parts and conditions of oxygen therapy and prolonged mechanical ventilation in severe cases of BPD are discussed.