RESUMEN
OBJECTIVE: To evaluate the association between carriage of BRCA1/2 mutations and ovarian performance, as demonstrated by in vitro fertilization (IVF) outcomes. DESIGN: Retrospective cohort study. SETTING: Two tertiary IVF centers. PATIENT(S): BRCA mutation carriers undergoing IVF for preimplantation genetic diagnosis (PGD) or fertility preservation were compared with non-BRCA PGD or fertility preservation patients, matched by age, IVF protocol, IVF center, and cancer disease status. INTERVENTION(S): In vitro fertilization cycles for PGD and fertility preservation. MAIN OUTCOME MEASURE(S): Outcome of IVF: oocyte yield, poor response rate, number of zygotes, pregnancy rates. RESULT(S): A total of 62 BRCA mutation carriers and 62 matched noncarriers were included; 42 were fertility preservation breast cancer patients, and 82 were PGD non-cancer patients. Mean (± SD) age of patients was 32 ± 3.58 years. Number of stimulation days and total stimulation dose were comparable between carriers and noncarriers. Their cycles resulted in comparable oocyte yield (13.75 vs. 14.75) and low response rates (8.06% vs. 6.45%). Number of zygotes, fertilization rates, and conception rates were also comparable. CONCLUSION(S): Both healthy and cancer-affected BRCA mutation carriers demonstrated normal ovarian response in IVF cycles.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Fertilización In Vitro , Heterocigoto , Infertilidad Femenina/terapia , Mutación , Ovario/fisiopatología , Adulto , Análisis Mutacional de ADN , Transferencia de Embrión , Femenino , Preservación de la Fertilidad , Tamización de Portadores Genéticos , Predisposición Genética a la Enfermedad , Humanos , Infertilidad Femenina/diagnóstico , Infertilidad Femenina/genética , Infertilidad Femenina/fisiopatología , Israel , Recuperación del Oocito , Fenotipo , Valor Predictivo de las Pruebas , Embarazo , Índice de Embarazo , Diagnóstico Preimplantación , Estudios Retrospectivos , Factores de Riesgo , Centros de Atención Terciaria , Resultado del TratamientoRESUMEN
OBJECTIVE: To assess whether overweight children and adolescents are at an increased risk for vitamin B(12) deficiency. DESIGN: Prospective descriptive study. SETTING: Two pediatric endocrine centers in Israel. PARTICIPANTS: Three hundred ninety-two children and adolescents were divided into 2 groups as follows: the normal-weight group had body mass indexes, calculated as weight in kilograms divided by height in meters squared, under the 95th percentile (<1.645 standard deviation scores; n = 228); the obese group had body mass indexes equal to or above the 95th percentile (>/=1.645 standard deviation scores; n = 164). INTERVENTION: We measured vitamin B(12) concentrations. Low serum B(12) was defined as a B(12) concentration less than 246 pg/mL, and vitamin B(12) deficiency was defined as a concentration below 211 pg/mL. MAIN OUTCOME MEASURE: Vitamin B(12) concentrations corrected for body mass index standard deviation scores, age, and sex. RESULTS: Median concentration of serum B(12) in normal- weight children was 530 pg/mL and in obese children, 400 pg/mL (P<.001). Low B(12) concentrations were noted in 10.4% of the obese children compared with only 2.2% of the normal weight group (P<.001). Vitamin B(12) deficiency was noted in 12 children, 8 (4.9%) of the obese subjects and 4 (1.8%) of the normal weight group (P = .08). After we adjusted for age and sex, obesity was associated with a 4.3-fold risk for low serum B(12), and each unit increase in body mass index standard deviation score resulted in an increased risk of 1.24 (95% confidence interval, 0.99-1.56). CONCLUSIONS: Obesity in children and adolescents was associated with an increased risk of low vitamin B(12) concentration. We recommend that dietary assessment of obese children should include an estimation of vitamin B(12) intake. The possibility of vitamin B(12) deficiency in addition to other micronutrient deficiencies should be considered in obese children.
