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. Only 8 mutations have been identified so far, and all lead to a truncated LYST protein. We conducted protein truncation tests on this gene in 8 patients with CHS. Different LYST mutations were identified in all subjects through this approach, strengthening the observation of a high frequency of truncated LYST proteins as the genetic cause of CHS.

[Meningitis caused by Bacteroides fragilis in children]. / Meningitis por Bacteroides fragilis en niños.

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. After the defect was surgically corrected, the wound became infected, the stitches opened, the child began to have fever, became irritable and suffered convulsions. The spinal tap showed changes compatible to bacterial meningitis, the bacteria was grown on Shaedler medium. The child was treated with cefotaxime and amikacin showing no satisfactory improvement. Afterwards, a second spinal tap showed Bacteroides fragilis.

[Biochemical composition of oral rehydration solutions and their combinations suggested for use in Venezuela]. / Composición bioquímica de las soluciones de hidratación oral y sus combinaciones sugeridas en 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 (4.30-5.10) in direct relationship to the concentration of carbohydrates (5% or more). Also, Pedialyte and Hidramilac had greater osmolalities (360-365 mOsm/kg) than plasma. Some of the levels of sodium and potassium in the solutions were found to be under the concentrations given by the producers. The combination of whole milk with oral solutions diminishes the concentrations of sodium and potassium in the mixture, changing the sodium-glucose relationship, pH and osmolality. The therapeutic implications for the use of oral rehydration solutions with low concentrations of sodium, acid pH, large content of glucose and elevated osmolality are discussed. It is concluded that the combination of whole milk with Sueroral (WHO) is not adequate for the optimum absorption of sodium and therefore to prevent dehydration. Therefore, except for the WHO solution and Oralite, other solutions are not adequate for the correction of the electrolytic and acid-base alterations present in infants with dehydration secondary to acute diarrhea.