Genetic counseling and genetic testing for cancer risk assessment.
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Biomedical subjects
Publications and source records attributed to L Raffel.
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Mexican American patients (n = 35) with insulin-dependent diabetes mellitus (IDDM) and control subjects (n = 39) were HLA-DQA and DQB typed by the polymerase chain reaction technique combined with allele-specific oligonucleotide probes. Either DQB1*0302 or DQB1*0201 was present among 91% (32/35) of the patients compared to 67% (26/39) of controls. Either DQA1*0501 or DQA1*0301 was present in all patients (100% or 35/35) compared to 29/39 (74%) (OR 12.06 Pc < 0.05) of controls. All four of these genes, in cis or trans, were present in 15/35 (43%) of the patients compared to 3/39 (8%) of controls (OR 9.0; Pc < 0.01). The presence of one or more non-susceptibility alleles showed a dose-related decrease in relative risk. Presence of aspartic acid (Asp) at position 57 of the DQ beta chain did not confer protection and non-Asp homozygosity did not confer susceptibility to IDDM in this ethnic group. In conclusion, susceptibility to IDDM in Mexican Americans is associated with particular DQA and DQB combinations, illustrates dose-dependent parameters and contradicts the critical residue hypothesis.
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Two hundred twenty-six consecutive women attending an inner-city clinic for sexually transmitted diseases were evaluated. Problem-directed histories and physical examinations were conducted and vaginal specimens for wet preparation and Trichomonas vaginalis culture were obtained from each patient. One hundred patients were found to be infected. Patients with multiple sex partners were found to be at increased risk of trichomoniasis (P less than .05). Those with abnormal discharge noted on examination had a higher frequency of positive cultures for T vaginalis (P less than .001). Only 50% of patients with trichomoniasis had an abnormal discharge. Patients with greater than 10 white blood cells per high power field on wet preparation, regardless of whether trichomonads were visualized, had a higher incidence of trichomoniasis (P less than .01). Factors that were not associated with Trichomonas infection included patient age, frequency of coitus, date of most recent coitus, day of menstrual cycle on which patient was examined, recent antibiotic use, use of contraceptives or specific contraceptive methods, symptoms of discharge or pruritus, or the finding of Leptothrix on wet preparation. These data support the contention that the classic description of trichomoniasis cannot be uniformly relied upon for diagnosis, but that patients with multiple sex partners, abnormal vaginal discharge and/or greater than 10 white blood cells per high power field on wet preparation are at increased risk of infection by T vaginalis.
Pyelonephritis was studied after an intravenous injection of Candida albicans, Staphylococcus aureus, or enterococcus in alloxan-diabetic rats and in water-diuresing or non-diuresing nondiabetic rats. The renal microbial populations of C. albicans or S. aureus were found to be greater than 10(5) colony-forming units per g for up to 42 days in diabetic rats, whereas the kidneys tended to become sterile in nondiabetic rats. No significant difference was found in the course of enterococcal pyelonephritis in diabetic versus control rats. The difference in the 50% infective dose for each microorganism between diabetic and control rats was less than or equal to log10. Neither duration of diabetes nor weight loss contributed to the greater and more sustained renal populations of C. albicans and S. aureus in diabetic rats. The inflammatory reaction in kidneys infected with S. aureus or C. albicans was greater in diabetic rats. Fungus balls associated with ureteral obstruction and gross multiple renal abscesses occurred in diabetic, but not in nondiabetic, rats infected with Candida. Growth of C. albicans and S. aureus in vitro in urine from diabetic rats was significantly greater than it was in urine from control rats. Addition of water or glucose to the urine of non-diuresing, nondiabetic rats significantly increased in vitro growth of S. aureus and C. albicans. These studies demonstrate greater severity of infection in the diabetic kidney due to S. aureus and C. albicans, which can be partially explained by decreased inhibitory activity of urine for these organisms in diabetic rats.