Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome... more Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome (PWS). Criteria for hypopigmentation included the presence of type I or II skin, the lightest skin type in the family by history, and iris translucency on globe transillumination. On the basis of these criteria, 48% of the PWS individuals were hypopigmented. The presence of hypopigmentation correlated with a small interstitial deletion on the proximal long arm of chromosome 15; however, this deletion was also found in individuals who did not meet the full criteria for hypopigmentation. Hairbulb tyrosinase activity and glutathione content, as well as urine cysteinyldopa excretion, were low in PWS individuals with and without hypopigmentation and did not separate these two groups. We conclude that hypopigmentation is found in a significant proportion of individuals with PWS and that the hypopigmentation may be associated with a deletion of the long arm of chromosome 15. The mechanism for the hypopigmentation is unknown.
Epithelial adhesion and expression of the integrin analog, a putative candidal adhesion, were cor... more Epithelial adhesion and expression of the integrin analog, a putative candidal adhesion, were correlated for 33 clinical and laboratory isolates of Candida albicans, other Candida species, and Saccharomyces cerevisiae. On flow cytometry with saturating concentrations of the monoclonal antibody OKM1, surface fluorescence was highest for C. albicans at 67.8% +/- 1.7% and significantly reduced for Candida tropicalis (32.0% +/- 2.6%), Candida parapsilosis (18.3% +/- 2.4%), Candida glabrata (3.3% +/- 0.8%), Candida lusitaniae (2.9% +/- 1.0%), Candida krusei (0.7% +/- 0.1%), and Saccharomyces cerevisiae (1.7% +/- 0.2%) (P < .006 for all other species vs. C. albicans). Adhesion to a human epithelial cell line was highest for C. albicans at 49.8% +/- 3.5%, lower for C. tropicalis (44.7% +/- 4.6%), and incrementally reduced for all other species (< 25%) (P < .012). The correlation between integrin expression and epithelial adhesion was highly significant (P = .0066; r2 = .8). Surface expression of the integrin analog predicts epithelial adhesion for yeast species isolated in opportunistic infections.
Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome... more Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome (PWS). Criteria for hypopigmentation included the presence of type I or II skin, the lightest skin type in the family by history, and iris translucency on globe transillumination. On the basis of these criteria, 48% of the PWS individuals were hypopigmented. The presence of hypopigmentation correlated with a small interstitial deletion on the proximal long arm of chromosome 15; however, this deletion was also found in individuals who did not meet the full criteria for hypopigmentation. Hairbulb tyrosinase activity and glutathione content, as well as urine cysteinyldopa excretion, were low in PWS individuals with and without hypopigmentation and did not separate these two groups. We conclude that hypopigmentation is found in a significant proportion of individuals with PWS and that the hypopigmentation may be associated with a deletion of the long arm of chromosome 15. The mechanism for the hypopigmentation is unknown.
Epithelial adhesion and expression of the integrin analog, a putative candidal adhesion, were cor... more Epithelial adhesion and expression of the integrin analog, a putative candidal adhesion, were correlated for 33 clinical and laboratory isolates of Candida albicans, other Candida species, and Saccharomyces cerevisiae. On flow cytometry with saturating concentrations of the monoclonal antibody OKM1, surface fluorescence was highest for C. albicans at 67.8% +/- 1.7% and significantly reduced for Candida tropicalis (32.0% +/- 2.6%), Candida parapsilosis (18.3% +/- 2.4%), Candida glabrata (3.3% +/- 0.8%), Candida lusitaniae (2.9% +/- 1.0%), Candida krusei (0.7% +/- 0.1%), and Saccharomyces cerevisiae (1.7% +/- 0.2%) (P < .006 for all other species vs. C. albicans). Adhesion to a human epithelial cell line was highest for C. albicans at 49.8% +/- 3.5%, lower for C. tropicalis (44.7% +/- 4.6%), and incrementally reduced for all other species (< 25%) (P < .012). The correlation between integrin expression and epithelial adhesion was highly significant (P = .0066; r2 = .8). Surface expression of the integrin analog predicts epithelial adhesion for yeast species isolated in opportunistic infections.
Uploads