RESUMEN
BACKGROUND: C282Y hereditary haemochromatosis is an appropriate condition for population screening. Transferrin saturation, the best screening test to date, is relatively expensive, labour intensive, and cannot be automated. Unsaturated iron binding capacity is a surrogate marker of transferrin saturation and its measurement can be automated. AIMS: To evaluate a screening strategy for C282Y hereditary haemochromatosis in a tertiary hospital environment based on unsaturated iron binding capacity as the initial screening test. METHODS: Measurement of unsaturated iron binding capacity was adapted to the main laboratory analyser. An unsaturated iron binding capacity of less than 30 micromol/l was identified as an appropriate decision point and 5182 consecutive subjects were screened over 28 consecutive days. RESULTS: Of those screened, 697 had an unsaturated iron binding capacity less than 30 micromol/l. Of these, transferrin saturation was greater than 40% in 294. A total of 227 were able to be genotyped for the C282Y mutation. Nine subjects homozygous for C282Y were identified. Based on full cost recovery, affected persons were identified at a cost of Aus$2268.77 per case (approximately US$1496). CONCLUSION: Automated measurement of unsaturated iron binding capacity enables a cost effective, large scale population screening programme for C282Y hereditary haemochromatosis to be developed.
Asunto(s)
Pruebas Genéticas/métodos , Hemocromatosis/diagnóstico , Hierro/metabolismo , Transferrina/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Análisis Costo-Beneficio , Estudios de Evaluación como Asunto , Femenino , Marcadores Genéticos , Pruebas Genéticas/economía , Genotipo , Hemocromatosis/genética , Hemocromatosis/metabolismo , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Bicarbonatos , Magnesio/sangre , Autoanálisis , Reacciones Falso Positivas , Humanos , Indicadores y ReactivosRESUMEN
Using two methods of bromodeoxyuridine (BrdUrd) administration and three genotoxic chemicals, the effects of dose and treatment time on the intercellular distribution of sister-chromatid exchanges (SCE) in the bone marrow of male B6C3F1 mice were evaluated. The dispersion of SCE among solvent control mice infused intravenously with BrdUrd or implanted subcutaneously with a BrdUrd tablet partially coated with paraffin was largely consistent with a Poisson model. Intraperitoneal treatment with cyclophosphamide (CP; solvent = phosphate-buffered saline), 7,12-dimethylbenzanthracene (DMBA; solvent = corn oil) and, in mice infused with BrdUrd, mitomycin C (MMC; solvent = phosphate-buffered saline) induced a significant increase in SCE, the distribution of which was not distributed as a Poisson. For CP and MMC, the increase in dispersion was dose-dependent and independent of treatment time (-1, +1 or +8 h in relation to the start of the BrdUrd treatment). The lack of a treatment time effect suggests that there were no significant differences among treatment times in the distribution of the reactive forms of these two chemicals, no variation in cell-stage sensitivity, and no cellular toxicity to modulate the response. For DMBA, the increased dispersion of induced SCE depended on treatment time and was not simply related to dose. The increase in dispersion was agent-specific; at equal levels of SCE induction, the distribution of SCE in mice treated with DMBA exhibited greater dispersion than SCE in mice treated with either CP or MMC. These differences between DMBA and CP/MMC are probably due to DMBA's slower absorption/distribution kinetics, its requirement for metabolic activation to genotoxic metabolites and its extended half-life. These data suggest that analyzing the distribution of SCE, in addition to mean frequency, is a useful method for evaluating agent specific patterns in SCE induction.
Asunto(s)
9,10-Dimetil-1,2-benzantraceno/farmacología , Médula Ósea/efectos de los fármacos , Ciclofosfamida/farmacología , Mitomicinas/farmacología , Mutágenos , Intercambio de Cromátides Hermanas/efectos de los fármacos , Animales , Células de la Médula Ósea , Bromodesoxiuridina , Relación Dosis-Respuesta a Droga , Masculino , Ratones , Ratones Endogámicos , MitomicinaRESUMEN
The effect of infection by Babesia microti, a tick-borne piroplasm endemic to the northeastern United States, on the temporal pattern of micronucleated erythrocyte frequencies in peripheral blood was investigated in male Syrian golden hamsters. Significantly greater frequencies of micronucleated erythrocytes occurred in the blood of infected hamsters from 26 to 46 days after injection with B. microti, the magnitude of which within individual hamsters correlated highly with the percentage of polychromatic erythrocytes and the extent of parasitization. These data suggest that parasitic infection and other factors which alter the rate of erythropoiesis should be considered when the micronucleus assay is used in environmental or laboratory studies of genetic toxicity.
Asunto(s)
Babesiosis/genética , Eritrocitos/ultraestructura , Pruebas de Micronúcleos , Animales , Cricetinae , Masculino , MesocricetusAsunto(s)
Artritis Infecciosa/veterinaria , Borrelia burgdorferi , Enfermedades de los Perros/diagnóstico , Infecciones por Spirochaetales/veterinaria , Animales , Vectores Arácnidos , Artritis Infecciosa/diagnóstico , Artritis Infecciosa/transmisión , Diagnóstico Diferencial , Enfermedades de los Perros/transmisión , Perros , Femenino , New York , Infecciones por Spirochaetales/diagnóstico , Infecciones por Spirochaetales/transmisión , Garrapatas/microbiologíaRESUMEN
The prevalence of the Ixodes dammini spirochete (IDS) in white-tailed deer (Odocoileus virginianus) and white-footed mice (Peromyscus leucopus) was studied on the eastern end of Long Island, New York. Both species commonly occur in a variety of habitats, are preferred hosts of Ixodes dammini, and can harbor the spirochetes in the blood. Each animal was examined for spirochetemia, tick infestation, and IDS infection rates in the ticks that were removed from it. The results obtained suggest that in winter deer can be infected by questing adult I. dammini. Adult ticks apparently are infected through transtadial transmission of spirochetes from subadult ticks which had fed earlier in their life history on infected animals. Deer are important hosts of adult ticks and the IDS in winter and probably are a reservoir host in other seasons. The patterns of spirochete prevalence suggest that deer and mice are reservoirs of the organism and thus are fundamental to the ecology of Lyme disease on Long Island.
Asunto(s)
Borrelia burgdorferi , Ciervos/microbiología , Reservorios de Enfermedades , Enfermedad de Lyme/transmisión , Peromyscus/microbiología , Garrapatas/microbiología , Animales , Anticuerpos Antibacterianos/análisis , Femenino , Humanos , Enfermedad de Lyme/inmunología , Masculino , New York , Estaciones del Año , Spirochaetales/inmunología , Spirochaetales/aislamiento & purificaciónRESUMEN
Amblyomma americanum is a likely secondary vector of Lyme disease in New Jersey. Ticks of this species were removed from the site of the characteristic skin lesion known as erythema chronicum migrans on two patients with the disease, and the Lyme disease spirochete was isolated from nymphs and adults of this species. That A. americanum is a potential vector is supported by its similarities to Ixodes dammini, the known tick vector, in seasonal distribution and host utilization. The extensive range of A. americanum may have great implications for potential Lyme disease transmission outside known endemic areas.