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1.
Am J Psychiatry ; 179(11): 853-861, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-36000218

RESUMO

OBJECTIVE: Copy number variants (CNVs) are strongly associated with neurodevelopmental and psychotic disorders. Early-onset psychosis (EOP), where symptoms appear before 18 years of age, is thought to be more strongly influenced by genetic factors than adult-onset psychotic disorders. However, the prevalence and effect of CNVs in EOP is unclear. METHODS: The authors documented the prevalence of recurrent CNVs and the functional impact of deletions and duplications genome-wide in 137 children and adolescents with EOP compared with 5,540 individuals with autism spectrum disorder (ASD) and 16,504 population control subjects. Specifically, the frequency of 47 recurrent CNVs previously associated with neurodevelopmental and neuropsychiatric illnesses in each cohort were compared. Next, CNV risk scores (CRSs), indices reflecting the dosage sensitivity for any gene across the genome that is encapsulated in a deletion or duplication separately, were compared between groups. RESULTS: The prevalence of recurrent CNVs was significantly higher in the EOP group than in the ASD (odds ratio=2.30) and control (odds ratio=5.06) groups. However, the difference between the EOP and ASD groups was attenuated when EOP participants with co-occurring ASD were excluded. CRS was significantly higher in the EOP group compared with the control group for both deletions (odds ratio=1.30) and duplications (odds ratio=1.09). In contrast, the EOP and ASD groups did not differ significantly in terms of CRS. CONCLUSIONS: Given the high frequency of recurrent CNVs in the EOP group and comparable CRSs in the EOP and ASD groups, the findings suggest that all children and adolescents with a psychotic diagnosis should undergo genetic screening, as is recommended in ASD.


Assuntos
Transtorno do Espectro Autista , Transtornos Psicóticos , Criança , Adolescente , Adulto , Humanos , Variações do Número de Cópias de DNA/genética , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/genética , Estudos de Coortes , Razão de Chances
2.
Artigo em Inglês | MEDLINE | ID: mdl-29351185

RESUMO

Few published studies have investigated the presence of lead in the e-liquid of electronic nicotine delivery systems (ENDS). Lead inhalation is associated with increased risk of stroke, heart disease, and other diseases. This study used a novel application of graphite furnace technology to compare the concentration of lead between e-liquids of different packaging and product designs using e-liquids that are or were commercially available in the United States and Canada. Eleven nicotine-free disposable ENDS devices and 12 bottled refill solutions that contained nicotine were purchased from retailers in Canada and the United States between 2015 and 2017. E-liquids extracted from the disposable products and individual containers were analyzed for lead content by graphite furnace using atomic absorption detection. The lead concentration of open-wick ENDS devices ranged from 25.2 ppb to 838.4 ppb, with a standard deviation of 187.4 ppb. None of the bottled e-liquids contained quantifiable levels of lead. This study found that quantifiable levels of lead are present in certain disposable e-cigarette devices, and there is evidence from this study that the design of ENDS devices may contribute to lead exposure. These findings suggest that lead testing should be incorporated into future chemical analyses of ENDS devices.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Chumbo/análise , Administração por Inalação , Canadá , Cromatografia Gasosa , Comportamento do Consumidor , Humanos , Nicotina/administração & dosagem , Estados Unidos
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