Genotypic Profile (genotypic + profile)

Distribution by Scientific Domains


Selected Abstracts


Atypical lymphocytic lobular panniculitis

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2004
Cynthia M. Magro
Background:, Although subcutaneous T-cell lymphoma (SCTCL) is considered an aggressive form of lymphoma, some patients manifest a long waxing and waning phase unaccompanied by constitutional symptoms. Methods:, Twelve patients were prospectively encountered, presenting with a lymphocytic panniculitis accompanied by lymphoid atypia, although not fulfilling criteria for SCTCL. Clinical, histologic, phenotypic, and genotypic analyses were conducted. Results:, There were five men, one boy, and six women; none had symptoms compatible with lupus erythematosus or aggressive SCTCL. All but two had a waxing and waning course of years. Four patients had periodic cytopenias accompanied by fevers. While responding somewhat to prednisone, the lesions relapsed. In one patient, treatment with alemtuzumab (CAMPATH-1) led to complete lesional resolution with no recurrence. Light microscopy showed expansion of the interstices of the fat lobule by mildly atypical lymphocytes of the CD4 subset in 10 biopsies from eight patients; in the other four patients, there was an increase in CD8 lymphocytes. There was diminished expression of CD5 and/or CD7 in the majority of biopsies. Ten of 13 biopsies showed clonal T-cell receptor-, rearrangements. Conclusions:, We apply the term atypical lymphocytic lobular panniculitis to this distinctive form of lymphocytic panniculitis manifesting this light microscopic, phenotypic, and genotypic profile. [source]


Genotypic characterization of Pseudomonas aeruginosa strains recovered from patients with cystic fibrosis after initial and subsequent colonization

PEDIATRIC PULMONOLOGY, Issue 4 2001
Anne Munck MD
Abstract Chronic infection by Pseudomonas aeruginosa (PA) in patients with cystic fibrosis (CF) is preceded by a period of colonization and acute infection. Early aggressive antibiotic treatment of initial colonisation may prevent or at least delay chronic pulmonary infection. We initiated treatment with a combination of IV ,-lactam tobramycin, followed by nebulized colistin when PA was first isolated from patients with CF. Subsequent serial PA isolates obtained from these colonized CF patients were characterized by means of molecular methods to determine whether they were genetically related to the initial strain. Initial colonization was eradicated in all 19 patients. All patients reacquired PA within 3,25 months during the 3 years of follow-up. Fourteen patients acquired a new PA strain with a distinct genotypic profile, suggesting a new source of contamination. Five patients had two PA isolates with identical genotypes, suggesting either previous undetected respiratory tract colonization or a persistent environmental source of contamination. Pediatr Pulmonol. 2001; 32:288,292. © 2001 Wiley-Liss, Inc. [source]


Phenotypic and genotypic characterization of encapsulated Escherichia coli isolated from blooms in two Australian lakes

ENVIRONMENTAL MICROBIOLOGY, Issue 5 2005
Michelle L. Power
Summary Escherichia coli has long been used as an indicator organism for water quality assessment. Recently there has been an accumulation of evidence that suggests some strains of this organism are able to proliferate in the environment, a characteristic that would detract from its utility as an indicator of faecal pollution. Phenotypic and genotypic characterization of E. coli isolated from blooms in two Australian lakes, separated by a distance of approximately 200 km, identified that the blooms were dominated by three E. coli strains. A major phenotypic similarity among the three bloom strains was the presence of a group 1 capsule. Genetic characterization of a conserved region of the cps gene cluster, which encodes group 1 capsules, identified a high degree of genetic variation within the bloom isolates. This differs from previously described encapsulated E. coli strains which are highly conserved at the cps locus. The phenotypic or genotypic profiles of the bloom strains were not identified in 435 E. coli strains isolated from vertebrates. The occurrence of these encapsulated strains suggests that some E. coli have evolved a free-living lifestyle and do not require a host in order to proliferate. The presence of the same three strains in bloom events in different geographical regions of a temperate climate, and at different times, indicates that free-living E. coli strains are able to persist in these water reservoirs. This study provides further evidence of circumstances where caution is required in using E. coli as an indicator organism for water quality. [source]


4262: MLPA of choroidal melanoma

ACTA OPHTHALMOLOGICA, Issue 2010
BE DAMATO
Purpose To determine the genotypic profiles of choroidal melanomas using multiplex ligation-dependent probe amplification (MLPA) and to correlate findings with clinical and pathological features and metastatic death. Methods DNA samples from 452 choroidal melanomas were analyzed with MLPA evaluating 31 loci on chromosomes 1, 3, 6 and 8. The MLPA results were correlated with survival predictors and wiht metastatic death. Results The patients (194 female; 258 male) had a median age of 59.4 years and a median follow-up of 1.89 years. Metastatic death occurred in 47 patients, correlating most strongly with concurrent chromosomes 3 losses and chromosome 8q gains (Logrank analysis, p<0.001). Many small choroidal melanomas with a basal diameter of less than 10mm showed only chromosome 3 loss or chromosome 8q gain or none of these, suggesting that their tumour was 'pre-lethal' at the time of ocular treatment. Conclusion MLPA analysis of choroidal melanoma is predictive of metastatic death and, therefore, clinically useful. The findings of this study are most consistent with evolutionary clonal abnormality, suggesting that timely treatment prevents the metastatic genotype and metastatic spread in a proportion of patients. [source]