[Hyperimmunoglobulinemia D and periodic fever syndrome]. / Le syndrome d'hyper-immunoglobulines D (HIGDS) avec fièvre périodique. À propos de deux observations.

We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA.

[Professional activity of fellows in French pediatric intensive care units. North American fellowship programs: a comparative study]. / Organisation et charge de travail des chefs de clinique-assistants des unités de réanimation pédiatrique françaises. Comparaison avec l'expérience des "fellowships" nord-américains.

OBJECTIVES: The study of fellows professional activity in French pediatric intensive care units monitors: their workload, their distribution between bedside care and academic activities, their scientific papers production and at knowing perceptual impact their workload had on their professional and personal lives. METHODS: The 2000 survey according to all 31 fellows of these units obtained a response rate of 94%. RESULTS: Fellows of these units reported spending an average of 76 hours in the hospital per week. The bedside care took up 80% of their total professional activity. Impact of the workload was perceived as negative on themselves, on patient, their parents, on the care team. Fellows suggested a larger time needed to be dedicated to research, the support of a research mentor and the increase of medical staff, to favor their academic activity and improve unit functioning. CONCLUSION: The workload reported seemed to affect the patient bedside care and diminished the implication of the fellows of French pediatric intensive care unit for the research activity. An increase of medical staff, a protected time for research would contribute to balancing professional activity of these medical doctors and would maintain the objective of training good clinicians.

Transmission of human parvovirus B19 by plasma derived factor VIII concentrates.

Although clotting factor concentrates prepared from large pools of plasma are considered to be safe for enveloped viruses (HIV, HBV and HCV), these products are likely to remain at risk for non lipid enveloped viruses. The prevalence of positive IgG serology for human parvovirus B19 (HPV-B19) was determined in 53 children suffering from haemophilia A, who had been treated from birth with only one brand of a highly purified factor VIII concentrate prepared by ion exchange chromatography with a solvent-detergent step (HPSD-VIII). HPV-B19 seropositivity ranged from 20 to 43% in 198 age matched controls. In contrast, the incidence of positive HPV-B19 IgG serology varied from 75 to 100% in haemophiliacs and all 10 severe haemophilia A patients under 3 years of age were seropositive. The presence of HPV-B19 in this clotting factor concentrate demonstrates that at least a proportion of such products continue to transmit non lipid enveloped viruses.

[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. / Syndrome de Laurence-Moon (Bardet-Biedl) avec déficit en hormone de croissance.

BACKGROUND: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Laurence-Moon syndrome subjects. CASE REPORT: The 5 patients (3 girls, 2 boys) in this family of 12 sibs, all suffered from retinopathy, mental retardation and first metacarpal hypoplasia with proximal placement of thumb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one was obese. RESULTS: Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH response to gonadotropin-releasing hormone; their plasma testosterone and oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex steroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual characters and testicle growth. He was also given growth hormone, and had a growth spurt of 5.5 cm after 9 months treatment. CONCLUSION: The hypogonadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.