Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has made it difficult to screen for mutations in a large number of patients.

[Meningitis caused by Bacteroides fragilis in children].

Bacteroides fragilis is an obligated anaerobic bacillus which forms part of the normal intestinal flora of the colon and is often seen as a common pathogen in intraabdominal infections. It is an infrequent pathogen in cases of meningitis; a review of the literature reports only eight cases of this disease in children, especially in neonates with conditioning factors such as abdominal sepsis, chronic middle ear otitis and atrial-ventricular derivations. A case of a newborn baby girl with lumbosacral myelomeningocele is reported.

[Biochemical composition of oral rehydration solutions and their combinations suggested for use in Venezuela].

We studied the electrolyte composition, pH and osmolality of six solutions for oral rehydration available in drug stores in Venezuela, and also their combinations with whole milk in a dilution of 6.6%. The solutions such as Pedialyte, Hidramilac and Hidramines showed an acid pH (4.