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1.
Pediatr Res ; 87(4): 677-682, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31649339

RESUMEN

BACKGROUND: Mercury, lead, and cadmium are developmental neurotoxicants. We predict that preterm newborns requiring packed red blood cell (PRBC) transfusions may be exposed to neurotoxic doses. We explored the relationship between donor concentration, number of donors, number of transfusions and mercury, lead and cadmium exposure. METHODS: Single-donor PRBCs were analyzed for mercury, lead and cadmium concentration. Dose per transfusion was calculated and compared to intravenous reference doses (IVRfDs). Linear regression analyses were performed to correlate donor and infant exposure. RESULTS: Thirty-six infants received 268 transfusions from 94 donors. Number of donors and transfusions were significantly correlated with birthweight and gestational age. All three metals were detected in ≥95% of donor PRBCs. Number of donors was significantly associated with cumulative dose, and there was a significant correlation between mercury and lead doses/transfusion. IVRfDs were exceeded for mercury and lead in 8.6% and 38% of transfusions, respectively. None exceeded the IVRfD for cadmium. For lead, infants exposed to three donors had more transfusions exceeding IVRfD than those exposed to 1-2 donors. CONCLUSIONS: Preterm infants are exposed to heavy metals via transfusions. Doses exceeded the IVRfDs for mercury and lead. Cadmium did not pose a risk. Prescreening donor blood could reduce exposure risk.


Asunto(s)
Cadmio/sangre , Transfusión de Eritrocitos , Recien Nacido Prematuro/sangre , Plomo/sangre , Mercurio/sangre , Baltimore , Peso al Nacer , Donantes de Sangre , Cadmio/efectos adversos , Selección de Donante , Transfusión de Eritrocitos/efectos adversos , Femenino , Edad Gestacional , Humanos , Recién Nacido , Plomo/efectos adversos , Masculino , Mercurio/efectos adversos , Nacimiento Prematuro , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Resultado del Tratamiento
2.
Proc Natl Acad Sci U S A ; 107(19): 8695-700, 2010 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-20421487

RESUMEN

Complex psychiatric disorders are resistant to whole-genome analysis due to genetic and etiological heterogeneity. Variation in resting electroencephalogram (EEG) is associated with common, complex psychiatric diseases including alcoholism, schizophrenia, and anxiety disorders, although not diagnostic for any of them. EEG traits for an individual are stable, variable between individuals, and moderately to highly heritable. Such intermediate phenotypes appear to be closer to underlying molecular processes than are clinical symptoms, and represent an alternative approach for the identification of genetic variation that underlies complex psychiatric disorders. We performed a whole-genome association study on alpha (alpha), beta (beta), and theta (theta) EEG power in a Native American cohort of 322 individuals to take advantage of the genetic and environmental homogeneity of this population isolate. We identified three genes (SGIP1, ST6GALNAC3, and UGDH) with nominal association to variability of theta or alpha power. SGIP1 was estimated to account for 8.8% of variance in power, and this association was replicated in US Caucasians, where it accounted for 3.5% of the variance. Bayesian analysis of prior probability of association based upon earlier linkage to chromosome 1 and enrichment for vesicle-related transport proteins indicates that the association of SGIP1 with theta power is genuine. We also found association of SGIP1 with alcoholism, an effect that may be mediated via the same brain mechanisms accessed by theta EEG, and which also provides validation of the use of EEG as an endophenotype for alcoholism.


Asunto(s)
Electroencefalografía , Genes/genética , Estudio de Asociación del Genoma Completo , Proteínas Adaptadoras Transductoras de Señales , Alcoholismo/genética , Transporte Biológico , Proteínas Portadoras/genética , Cromosomas Humanos Par 1/genética , Frecuencia de los Genes/genética , Sitios Genéticos/genética , Marcadores Genéticos , Aparato de Golgi/metabolismo , Humanos , Proteínas de la Membrana , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados , Estados Unidos , Población Blanca/genética
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