Detection of legionellas in clinical samples using FITC-marked antibodies

Using serogroup/species specific FITC-conjugates against Legionella (L.) pneumophila serogroups (SG) 1 to 6, L. micdadei, L. bozemanii and L. jordanis 186 sputum samples, 43 pleural fluids and bronchial washings and 39 lung tissue samples from 251 pneumonia patients were checked for Legionellae with the direct fluorescent antibody technique (DFAT). In samples from 201 patients which were negative if tested for antibodies and for urinary antigen and/or using culture methods, the DFAT was negative, too. One Pseudomonas strain isolated from a bronchial washing showed crossreactions. In 19 out of 49 patients with legionellosis L. pneumophila SG 1 (3x), SG 2 (1x), SG 3 (4x), SG 4 (1x), SG 5 (5x), L. micdadei (3x) and L. bozemanii (2x) were found. Positivity of the DFAT was significant higher in specimens, taken in early stages of illness (p less than 0.01). DFAT can be used for specific detection of Legionellae in clinical specimens, but the relative low sensitivity (39%) does not allow to exclude legionellosis. Further diagnostic tests like detection of antibodies and urinary antigen and culture are necessary to diagnose legionellosis.     

Segmental intestinal muscular thinning: a possible cause of intestinal obstruction in the newborn

Intestinal obstruction proximal to a transition zone without an interposed physical barrier usually indicates Hirschsprung disease. The authors report one case of focal small bowel muscular thinning just distal to a transition zone that produced clinical and radiographic findings that simulated long-segment Hirschsprung disease in a 2-day-old infant.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.