ObjectivesFrom the first description by Leo Kanner [1], autism has been an enigmatic neurobehavioral phenomenon. The new genetic/genomic technologies of the past decade have not been as productive as originally anticipated in unveiling the mysteries of autism. The specific etiology of the majority of cases of autism spectrum disorder (ASD) is unknown, although numerous genetic/genomic variants and alterations of diverse cellular functions have been reported. Prompted by this failure, we have investigated whether the metabolomics approach might yield results which could simultaneously lead to a blood-based screening/diagnostic test and to treatment options. Methods Plasma samples from a clinically well-defined cohort of 100 male individuals, ages 2-16+ years, with ASD and 32 age-matched typically developing (TD) controls were subjected to global metabolomic analysis. ResultsWe have identified more than 25 plasma metabolites among the approximately 650 metabolites analyzed, representing over 70 biochemical pathways, that can discriminate children with ASD as young as 2 years from children that are developing typically. The discriminating power was greatest in the 2-10 year age group and weaker in older age groups. The initial findings were validated in a second cohort of 83 children, males and females, ages 2-10 years, with ASD and 76 age and gender-matched TD children. The discriminant metabolites were associated with several key biochemical pathways suggestive of potential contributions of increased oxidative stress, mitochondrial dysfunction, inflammation and immune dysregulation in ASD. Further, targeted quantitative analysis of a subset of discriminating metabolites using tandem mass spectrometry provided a reliable laboratory method to detect children with ASD. Conclusion Metabolic profiling appears to be a robust technique to identify children with ASD ages 2-10 years and provides insights into the altered metabolic pathways in ASD, which could lead to treatment strategies. ObjectivesTo uncover novel traits associated with nicotine and alcohol use genetics, we performed a phenome-wide association study in a large multi-ethnic cohort. Methods We investigated 7,688 African-Americans (AFR), 1,133 Asian-Americans (ASN), 14,081 European-Americans (EUR), and 3,492 Hispanic-Americans (HISP) from the Women's Health Initiative, analyzing risk alleles located in the CHRNA5-CHRNA3 locus (rs8034191, rs1051730, rs12914385, rs2036527, and rs16969968) for nicotine-related traits and ADH1B (rs1229984 and rs2066702) and ALDH2 (rs671) for alcohol-related traits with respect to anthropometric characteristics, dietary habits, social status, psychological circumstances, reproductive history, health conditions, and nicotine-and alcohol-related traits. ResultsThe investigated loci resulted associated with novel traits: rs1229984 were associated with family income (p=4.1*10 −12 ), having a pet (p=6.5*10 −11 ), partner education (p=1.8*10 −10 ), "usually expect the best" (p=2.4*10 −7), "felt calm and peaceful" (p=2.6*10 ), and num...
Objectives: to describe the knowledge of the nursing staff on the neonatal and analyze how the nursing staff of a maternity school contributes to neonatal screening. Methods: A descriptive study with a qualitative approach, subjects were sixteen professional nursing staff, from February to March 2012. Data collection was conducted through semi-structured interview. The data were arranged by similarity of responses, establishing analytical categories. Results: we found that the nursing staff has practical knowledge based on institutional routine neonatal screening, unaware of the specific diseases (diseases) of each test, and superficially not know specifically about what types of diseases each test detects. We consider that the nursing staff helps with referrals and guidance to new mothers, perform oversight and active pursuit of neonates are some procedures for effective newborn screening, while not reporting these aspects contribute. Conclusion: The study can provide the nursing staff making decisions in view of a more effective and efficient planning and adoption of measures. There is need for further technical and scientific knowledge in the area. Descriptors: Nursing staff.Newborn. Neonatal screening. RESUMO Objetivo:descrever os conhecimentos da equipe de enfermagem sobre a triagem neonatal e analisar como a equipe de enfermagem de uma maternidade-escola contribui para a realização da triagem neonatal. Metodologia:estudo descritivo com abordagem qualitativa. Foram sujeitos dezesseis profissionais da equipe de enfermagem, no período de fevereiro a março de 2012.A coleta de dados foi realizadapor meio da entrevista semiestruturada. Os dados foram dispostos por similaridade das respostas, estabelecendo categorias analíticas. Resultados:constatamos que a equipe de enfermagem detém os conhecimentos práticos baseados na rotina institucional sobre a triagem neonatal, desconhecem os agravos específicos (doenças) de cada teste, conhecem superficialmente e não especificamente sobre que tipos de doenças cada teste detecta. Consideramos que a equipe de enfermagem contribui com orientações e encaminhamentos às puérperas, realizam supervisão da busca ativa de neonatos e fazem alguns procedimentos para a efetivação da triagem neonatal, ao mesmo tempo que relatam não contribuírem nestes aspectos. Conclusão:o estudo pode proporcionar à equipe de enfermagem tomada de decisões em vista de um planejamento mais efetivo e eficaz e adoção de medidas. Há necessidade de aprofundamento de saberes técnico-científicosna área. Descritores: Equipe de enfermagem.Recém-nascido.Triagem neonatal. RESUMEN Objetivo:Describir los conocimientos del personal de enfermería en elcribado neonatal y analizar cómo el personal de enfermería de un hospital de maternidad contribuye a la detección neonatal. Metodología: Se realizóunestudiodescriptivoconabordajecualitativo. Diecis é issu jetoseran trabajadoras de enfermeríaenel período febrero-marzo de 2012. La recolección de datos se realizó a través de entrevistas semi-estructuradas. Los datos...
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