Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
December 2012
Zh Nevrol Psikhiatr Im S S Korsakova
July 2012
Comparative assessment of the diagnostic properties of 30 lots of commercial casein-carbon agar used in practical bacteriology for the diagnosis of pertussis has shown essential differences in the efficacies of various lots of this medium. Only 11 of the 30 tested lots provided the formation of B. pertussis colonies in the periods established by the instruction.
View Article and Find Full Text PDFZh Mikrobiol Epidemiol Immunobiol
March 1989
Tellurite blood media prepared on a new dried base with amino peptide have been found to have advantages, when used for the bacteriological diagnosis of C. diphtheriae infection, over Buchin's selective quinosol medium with respect to the rate and time of the isolation of C. diphtheriae; besides, these new media have been found to possess pronounced differentiating properties with respect to the concomitant microflora.
View Article and Find Full Text PDFThe diagnostic characteristics of 8 nutrient media most frequently employed at practical bacteriologic laboratories for the isolation of C. diphtheriae have been under study. Clauberg-2 medium and blood-tellurite agar have been found the most suitable for the diagnostic studies.
View Article and Find Full Text PDFDietetic history data covering 500 persons with duodenal ulcer, 200 of whom aged from 16 to 25 and 300--from 26 to 55 years, and recorded in a questionnaire of a medico-information chart were subjected to a detailed analysis with reference to a complex set of factors characterizing the pattern and qualitative peculiarities of the nutrition. Most of the examined (predominantly the young) demonstrated disordered pattern and quality of nourishment and imbalance of food rations. Of greatest frequency were perturbations in the alimentation rhythm (in 76% of the youths and 81% of mature adults), abuse of carbohydrates, largely of easily assimilable ones (in 71 and 59% of the patients, respectively), excessive consumption of animal fats (in 64 and 41.
View Article and Find Full Text PDFZh Mikrobiol Epidemiol Immunobiol
November 1961