44 research outputs found

    Beringian Standstill and Spread of Native American Founders

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    Native Americans derive from a small number of Asian founders who likely arrived to the Americas via Beringia. However, additional details about the intial colonization of the Americas remain unclear. To investigate the pioneering phase in the Americas we analyzed a total of 623 complete mtDNAs from the Americas and Asia, including 20 new complete mtDNAs from the Americas and seven from Asia. This sequence data was used to direct high-resolution genotyping from 20 American and 26 Asian populations. Here we describe more genetic diversity within the founder population than was previously reported. The newly resolved phylogenetic structure suggests that ancestors of Native Americans paused when they reached Beringia, during which time New World founder lineages differentiated from their Asian sister-clades. This pause in movement was followed by a swift migration southward that distributed the founder types all the way to South America. The data also suggest more recent bi-directional gene flow between Siberia and the North American Arctic

    Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

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    Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course

    Voices from Campus: Strategies for Strengthening University Tobacco Free Policy Implementation

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    Studies show that habitual smoking often begins during young adulthood. With many young adults in the US pursing higher education, university campuses are examining issues associated with tobacco use including increased risks for preventable disease and exposure to secondhand smoke. College campuses are increasingly adopting tobacco-free policies that have the potential to reach large populations at risk for preventable diseases that result from smoking. The purpose of this research was to examine attitudes of campus staff toward the Tobacco Free policy of a mid-sized U.S. University located in the rural Northwest. Researchers conducted semi-structured interviews with 16 key informants affiliated with the University. Grounded theory was used to divide and categorize the interviews into 10 themes. These themes were analyzed and used to formulate suggestions for policy improvement. Key informants identified strategies that should and should not be used to increase Tobacco Free policy compliance on campus and disagreed about whether several practices (changing physical environment, education, negative consequences) and resources (financial support) should be used to increase Policy compliance. Participants identified individuals and departments who should and should not be responsible for Policy enforcement. Differences in opinion regarding which strategies should be used to increase Tobacco Free policy compliance indicate a need for increased clarity and consistency in Policy language. There is also a need for a more formal, effective forum where all the departments involved with the Policy can come together and work toward consistent policy implementation and enforcement. Policy implementation is a dynamic process and that a policy may need to be revised and implemented several times before it can be considered effective. Although every campus that pursues implementation of a tobacco-free policy is unique, important lessons can be learned from the successes and failures of the writing and implementation of tobacco free policies on other campuses

    Development of a custom-designed, pan genomic DNA microarray to characterize strain-level diversity among <i>Cronobacter </i>spp.

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    Cronobacter species cause infections in all age groups; however neonates are at highest risk and remain the most susceptible age group for life-threatening invasive disease. The genus contains seven species: C. sakazakii, C. malonaticus, C. turicensis C. muytjensii, C. dublinensis, C. universalis, and C. condimenti. Despite an abundance of published genomes of these species, genomics-based epidemiology of the genus is not well established. The gene content of a diverse group of 126 unique Cronobacter and taxonomically-related isolates was determined using a pan genomic-based DNA microarray as a genotyping tool and as a means to identify outbreak isolates for food safety, environmental, and clinical surveillance purposes. The microarray constitutes 19,287 independent genes representing 15 Cronobacter genomes and 18 plasmids and 2,371 virulence factor genes of phylogenetically-related Gram-negative bacteria. The Cronobacter microarray was able to distinguish the seven Cronobacter species from one another and from non-Cronobacter species; and within each species, strains grouped into distinct clusters based on their genomic diversity. These results also support the phylogenic divergence of the genus and clearly highlight the genomic diversity among each member of the genus. The current study establishes a powerful platform for further genomics research of this diverse genus, an important prerequisite towards the development of future countermeasures against this foodborne pathogen in the food safety and clinical arenas
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