RESUMO
The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2 loss-of-methylations (IC2-LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART-BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART-BWSp patients previously described in literature, and with the general population of children born from ART. We found that the distribution of UPD(11)pat was not significantly different in ART and naturally conceived patients. We observed 68.9% of IC2-LoM and 16.2% of mosaic UPD(11)pat in our ART cohort, that strongly differ from the figure reported in other cohorts so far. Since UPD(11)pat likely results from post-fertilization recombination events, our findings allows to hypothesize that more complex molecular mechanisms, besides methylation disturbances, may underlie BWSp increased risk in ART pregnancies. Moreover, comparing the clinical features of ART and non-ART BWSp patients, we found that ART-BWSp patients might have a milder phenotype. Finally, our data show a progressive increase in the prevalence of BWSp over time, paralleling that of ART usage in the last decades.
Assuntos
Síndrome de Beckwith-Wiedemann , Impressão Genômica , Síndrome de Beckwith-Wiedemann/epidemiologia , Síndrome de Beckwith-Wiedemann/genética , Metilação de DNA/genética , Feminino , Fertilização , Impressão Genômica/genética , Humanos , Gravidez , Técnicas de Reprodução Assistida/efeitos adversosRESUMO
Adolescents with life-threatening allergies are at a greater risk for a fatal anaphylactic event since only about half of them carry unexpired epinephrine available for emergency use. The aim of this study was to test the effectiveness of school nurse interventions that consisted of either routine or periodic checks during the school year for the availability of unexpired auto-injectable epinephrine. Seventy-seven students from 11 Massachusetts high schools participated in this study. Descriptive and chi-square (χ²) statistics as well as the Fisher's exact test were used to analyze data. Findings suggest that while periodic checks for the availability of epinephrine throughout the school year do not increase the likelihood that students will have epinephrine available, those students who do carry their epinephrine are more likely to have unexpired medication with periodic reminders during the school year.