Chronic granulomatous disease: the European experience.

CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation.

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.

Unlabelled: Ras-associated binding (Rab) proteins and Rab-associated proteins are key regulators of vesicle transport, which is essential for the delivery of proteins to specific intracellular locations. More than 60 human Rab proteins have been identified, and their function has been shown to depend on their interaction with different Rab-associated proteins regulating Rab activation, post-translational modification and intracellular localization. The number of known inherited disorders of vesicle trafficking due to Rab cycle defects has increased substantially during the past decade.

What is new in otitis media?

The "wait and see" approach in acute otitis media (AOM), consisting of postponing the antibiotic administration for a few days, has been advocated mainly to counteract the increased bacterial resistance in respiratory infections. This approach is not justified in children less than 2 years of age and this for several reasons. First, AOM is an acute inflammation of the middle ear caused in about 70% of cases by bacteria.

Long-term follow-up of portacaval shunt in glycogen storage disease type 1B.

Unlabelled: In two girls with glycogen storage disease (GSD) type 1b, terminolateral portacaval shunt (PCS) with partial circular resection of the lobus quadratus of the liver was performed at the age of 12 and 10 years, respectively. At that time, the patients had a height of -3.1 and -1.

Respiratory syncytial virus bronchiolitis: a double-blind dexamethasone efficacy study.

The efficacy of dexamethasone therapy for primary respiratory syncytial virus bronchiolitis was studied in a double-blind placebo design in 29 previously healthy infants (median age, 194 days). No significant differences were found between the groups in evolution of respiratory rate, oxygen saturation, clinical score, or pulmonary function tests on day 3.

Data protection and security within TANIT.

The word "TANIT" means "Telematics for ANaesthesia and Intensive Therapy". The objective of the TANIT project is to develop information and telematic systems in critical care environments that are integrated in the hospital information space. The goal is to produce an integrated European reference computer for Critical Care Environments (CCE).

Outcome after right middle lobe syndrome.

The long-term pulmonary consequences of right middle lobe syndrome (RMLS) in childhood are not known. Therefore, outcome was evaluated in 17 children with RMLS diagnosed in early childhood (mean age, 3.3 years; SD, 1.

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.

Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen breakdown. Several types of PHK deficiency have been described of which X-linked liver glycogenosis type I (XLG I) is the most common. Since the XLG I locus and the gene encoding the liver alpha-subunit gene of PHK (PHKA2) have both been localized to Xp22, PHKA2 was a candidate gene for XLG I.

Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

Chronic granulomatous disease (CGD) is characterized by the failure of activated phagocytes to generate superoxide. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox).

Aplasia of respiratory tract cilia.

We report on ciliary aplasia of the respiratory tract, a rare disorder of the mucociliary apparatus, that is insufficiently recognized as a distinct entity. A culture method for ciliogenesis was developed by our laboratory and offers the advantage of studying cilia free of secondary changes associated with infection. Three cases of primary ciliary aplasia were documented histologically in direct biopsy specimens and also in biopsy specimens cultured specifically for ciliogenesis.

Clinical and laboratory findings in children with adenovirus infections.

The hospital records of 49 children with adenovirus infection were reviewed. Diagnosis was made by virus isolation from the airways in 73%, the stools in 44%, the conjunctiva in 2% and by serology in 14% of the patients. Most children were less than 3 years of age.

Spontaneous healing of Langerhans cell histiocytosis (histiocytosis X).

A 3-month-old male infant presented with pallor, hepatomegaly (4.5 cm), splenomegaly (1.5 cm), anaemia (Hb 6 g/dl) and thrombocytopenia (16 X 10(9)/l).