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1.
Proc Natl Acad Sci U S A ; 112(30): 9196-201, 2015 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-25941398

RESUMO

Although extensive deposits of disarticulated, commingled human bones are common in the prehispanic Northern Frontier of Mesoamerica, detailed bioarchaeological analyses of them are not. To our knowledge, this article provides the first such analysis of bone from a full residential-ceremonial complex and evaluates multiple hypotheses about its significance, concluding that the bones actively represented interethnic violence as well as other relationships among persons living and dead. Description of these practices is important to the discussion of multiethnic societies because the frontier was a context where urbanism and complexity were emerging and groups with the potential to form multiethnic societies were interacting, possibly in the same ways that groups did before the formation of larger multiethnic city-states in the core of Mesoamerica.


Assuntos
Osso e Ossos/fisiologia , Morte , Etnicidade , Violência , Antropologia , Arqueologia , Canibalismo , Características Culturais , Feminino , Rituais Fúnebres/história , Geografia , História Antiga , Humanos , Masculino , México , Práticas Mortuárias/história , Características de Residência , Crânio/fisiologia , Classe Social
2.
Am J Hum Genet ; 93(4): 595-606, 2013 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-24035194

RESUMO

We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded ∼2× more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands' CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Variações do Número de Cópias de DNA , Desequilíbrio de Ligação , Criança , Exoma , Feminino , Expressão Gênica , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Risco , Fatores de Risco , Irmãos
3.
Pediatr Pulmonol ; 59(6): 1731-1739, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38546009

RESUMO

BACKGROUND AND OBJECTIVES: The SARS-CoV-2 pandemic shifted medical training programs to utilize virtual interviews (VIs) starting with the 2020 interview cycle. Fellowship interviews continue in the virtual format. It is unknown how this shift has affected equity for applicants as compared to in-person interviews. Equity in this study includes consideration of the opportunity for an applicant to accept, access, and conduct a VI. This study assessed pediatric pulmonary fellows' perception of equity associated with VIs and preferences for future cycles. METHODS: An anonymous survey link was emailed to Pediatric Pulmonology Program Directors to disseminate to incoming and first-year pediatric pulmonary fellows who participated in the 2022-2023 and 2021-2022 VI seasons. Responses were summarized by frequency and percentages. Inductive coding was used to thematically analyze free-text responses. RESULTS: Nearly 30% of eligible incoming and first-year pulmonary fellows (n = 35/119, 29.4%) completed the survey. Seventy-four percent felt that VIs reduce inequities as compared to in-person interviews. Sixty percent felt that VIs were the most equitable format, and 51% chose a VI as their preferred future format. Important practice considerations to promote equity for future VIs included providing applicants with instruction for the expected dress code, followed by providing applicants with virtual technology (91% and 89% of respondents ranked as at least "somewhat important," respectively). CONCLUSION: VIs were perceived as a more equitable interview format by pediatric pulmonology fellows compared to in-person interviews in our study. To increase equity for VIs, program directors can consider additional adaptations such as providing standardized instruction for dress code and providing the required technology.


Assuntos
COVID-19 , Bolsas de Estudo , Entrevistas como Assunto , Pediatria , Pneumologia , SARS-CoV-2 , Humanos , Pneumologia/educação , Pediatria/educação , Inquéritos e Questionários , Pandemias , Masculino , Feminino , Educação de Pós-Graduação em Medicina/métodos
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