The value of the determination of anti-Aspergillus IgG in the serodiagnosis of canine aspergillosis: comparison with galactomannan detection.

Diagnosis of canine aspergillosis is difficult using currently available methods. It often passes unnoticed or is diagnosed in the later phases of the disease. We developed an ELISA technique to detect anti-Aspergillus antibodies in canine serum using an Aspergillus antigenic mycelial extract, which could then be used for the diagnosis of canine aspergillosis. We used a cut-off of X + 3SD obtained from 20 control sera. The test was performed on 46 dogs with lesions indicating possible aspergillosis and gave nine positive results: one systemic mycosis, two discospondylitis, one uveitis, two bronchopulmonary processes and three rhinitis. We compared this methodology with the PLATELIA technique in the follow-up of the affected dogs, obtaining the same limitations as in the diagnosis of human aspergillosis. We consider our ELISA technique using sera samples a speedy, safe and reliable method which enables us to follow up the evolution of the disease and the efficacy of the therapy chosen. A definitive diagnosis must still take into account the results of other tests such as clinical examination, radiographic studies, endoscopy and biopsy.

[Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome]. / Klinik und Genetik des Williams-Beuren-Syndroms. Klinische und molekulargenetische Untersuchung von 44 Patienten mit Verdacht auf WBS.

BACKGROUND: The suspected diagnosis of Williams-Beuren syndrome (WBS), which is a retardation syndrome with great clinical variability, was cause for comparison of molecular genetic, molecular cytogenetic analysis to clinical symptoms. The results of the genetical analysis of a microdeletion of the elastin gene region on chromosome 7 were compared to the clinical symptoms. Are there any differences between symptoms in case of deletion or non-deletion? How informative are the molecular genetic, molecular cytogenetic analysis? PATIENTS AND METHODS: 44 patients with suspected diagnosis of WBS were examined using molecular genetic and molecular cytogenetic methods. The clinical symptoms as general symptoms, heart anomaly, dysmorphic signs and unusual neurobehavioural features were reported during clinical investigation in standardized questionnaires. The genomic DNA of the patients and their parents was analyzed using microsatellite markers. In some cases (e.g. uninformative microsatellite studies) we also used fluorescence in situ hybridization (FISH) with an elastin gene probe and performed a conventional chromosome banding analysis. RESULTS: 15 patients had a microdeletion. 4 patients had a deletion of the paternal allel and 7 patients showed the deletion of the maternal allel. The polymorphisms were of limited informativeness. In 2 cases microsatellite analysis was not able to determine whether the paternal or the maternal allel had been lost. In 2 cases the microsatellite analysis was uninformative so that FISH analysis was performed. All FISH analysis performed had an informative result. 80% of the children with a microdeletion of chromosome 7q11.23 showed the typical dysmorphic signs, 70% exhibited the typical WBS behaviour pattern, 50% had a specific heart anomaly. In contrast, in the group of children without a chromosomal microdeletion only 30-40% showed typical dysmorphic signs, only 10% had a typical heart anomaly and none of them showed specific behavioural changes. We found no indication to association of specific symptoms with paternal versus maternal origin of the deletion. The FISH analysis combined with a conventional chromosome banding analysis is very informative for diagnostic values. The results are compared to data of literature. CONCLUSIONS: Children with developmental retardation and WBS dysmorphic signs and an unusual behaviour should be examined by a molecular cytogenetic FISH analysis. If a microdeletion of band 7q11.23 is found a special cardiologic examination should be offered.