Objective To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A ( CPT1A ) is associated with a higher incidence of adverse health outcomes in Alaska Native ...infants and children. Study design We evaluated health measures from birth certificates (n = 605) and Alaska Medicaid billing claims (n = 427) collected from birth to 2.5 years of age for a cohort of Alaska Native infants with known CPT1A genotype. To account for geographic variations in gene distribution and other variables, data also were evaluated in cohorts. Results When analysis was restricted to residents of nonhub communities in Western and Northern Alaska, children homozygous for the arctic variant experienced more episodes of lower respiratory tract infection than did heterozygous or noncarrier children (5.5 vs 3.7, P = .067) and were more likely to have had otitis media (86% vs 69%, 95% CI 1.4-8.9). Associations were weaker for more homogeneous cohorts. Conclusions The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence of these health outcomes among indigenous Arctic populations; further studies will need to assess if this association was confounded by other risk factors.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
As newborn screening (NBS) programs in the US implement expanded screening panels, utilize emerging technologies and identify areas for improvement, the need to establish and maintain a community ...engagement based national technical assistance center becomes apparent. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs)—a program of the Association of Public Health Laboratories (APHL) in partnership with the Colorado School of Public Health (ColoradoSPH), offers expertise in newborn screening program development, member connection, data analysis, and program evaluation. NewSTEPs provides a secure online data repository designed to collect comprehensive data on newborn screening programs in three strata: state profiles (description of each state program including program hours, fees, and disorders screened), quality indicators (metrics of program performance encompassing screening accuracy and timeliness) and NBS public health surveillance case definitions. NewSTEPs was created in 2012 under a cooperative agreement with the United States Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), Maternal and Child Health Bureau (MCHB). Successful activities of NewSTEPs have resulted in the establishment of a technical assistance resource center and the organization of a network of newborn screening experts. In addition, NewSTEPs coordinates efforts with other federally funded programs in order to maximize resources and to ensure a unified approach to data collection and information sharing.
The afterlife of the Sacro Bosco at Bomarzo has received little critical attention, though its complex historiography was inseparably tied to political and social shifts in 20th century Italy. This ...article takes a fresh look both at the early 20th century reception and historiography of the Sacro Bosco and various writings and media devoted to it in post-war Italy. This article reveals the origins and production of dominant scholarly narratives that continue to influence our understanding of Bomarzo, their relationship with political pressures and ideological agendas of the time, and their long-lasting effects on the garden’s image in both popular culture and specialist literature.
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BFBNIB, NUK, PILJ, SAZU, UL, UM, UPUK
Objectives To use genotype analysis to determine the prevalence of the c.1436C→T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of ...newborn screening by tandem mass spectrometry (MS/MS) to identify homozygous infants. Study design We compared MS/MS and DNA analyses of 2409 newborn blood spots collected over 3 consecutive months. Results Of 2409 infants, 166 (6.9%) were homozygous for the variant, all but one of whom were of Alaska Native race. None of the homozygous infants was identified by MS/MS on the first newborn screen using a C0/C16 + C18 cutoff of 130. Among 633 Alaska Native infants, 165 (26.1%) were homozygous and 218 (34.4%) were heterozygous for the variant. The prevalence was highest in Alaska’s northern/western regions (51.2% of 255 infants homozygous; allele frequency, 0.7). Conclusions The CPT1A c.1436C→T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants. The clinical consequences of the partial CPT1A deficiency associated with this variant are unknown. If effects are substantial, revision of newborn screening, including Alaska-specific MS/MS cutoffs and confirmatory genotyping, may be needed.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
The sculptures of the Sacro Bosco of Bomarzo (c. 1550–80) are all made from one type of stone: peperino. It is an unusual substance for sixteenth-century sculpture, yet the physical makeup of the ...Sacro Bosco is rarely discussed in detail. This essay brings the material of these statues into focus through an art-historical consideration that deliberately embraces the author's physical encounter with the objects. The immersive experience of Bomarzo is thus investigated through the indivisibility of scholarly and sensory engagement. Exploring contemporary contexts that would have informed how the matter of these sculptures was understood by a sixteenth-century visitor – from natural history to geology and topography – it will be argued that the Sacro Bosco's rock would have invited the historical beholder to engage imaginatively with the generation of stone and the region's local history.
Infant mortality in Alaska is highest among Alaska Native people from western/northern Alaska, a population with a high prevalence of a genetic variant (c.1436C>T; the arctic variant) of carnitine ...palmitoyltransferase 1A (CPT1A).
We performed an unmatched case-control study to determine the relationship between the arctic variant and infant mortality. The cases were 110 Alaska Native infant deaths from 2006 to 2010 and the controls were 395 Alaska Native births from the same time period. In addition to the overall analysis, we conducted two subanalyses, one limited to subjects from western/northern Alaska and one limited to infants heterozygous or homozygous for the arctic variant.
Among western/northern Alaska residents, 66% of cases and 61% of controls were homozygous (adjusted odds ratio (aOR): 2.5; 95% confidence interval (CI): 1.3, 5.0). Among homozygous or heterozygous infants, 58% of cases and 44% of controls were homozygous (aOR: 2.3; 95% CI: 1.3, 4.0). Deaths associated with infection were more likely to be homozygous (OR: 2.9; 95% CI: 1.0-8.0). Homozygosity was strongly associated with a premorbid history of pneumonia, sepsis, or meningitis.
Homozygosity for the arctic variant is associated with increased risk of infant mortality, which may be mediated in part by an increase in infectious disease risk. Further studies are needed to determine whether the association we report represents a causal association between the CPT1A arctic variant and infectious disease-specific mortality.Genet Med 18 9, 933-939.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
This thesis considers the relationship between history, materiality and myth in the Sacro Bosco of Bomarzo (c.1550-1580), a site that encompasses roughly three hectares of woodland filled with carved ...peperino sculptures of monsters and marvels. Frequently framed as an outlier, Bomarzo's position within studies of Italian Renaissance garden design has always been uncomfortable. This thesis provides a detailed consideration of the Sacro Bosco's long history through the lens of art history and the site's beholders, both within the sixteenth century and in key moments of its subsequent reception. In doing so this thesis opens up the study of Bomarzo to questions and concerns beyond that of attribution, iconography and patronage. Instead, interpretative frames grounded in the interests and concerns of the site's intended visitors, from antiquarianism and popular forms of literature to natural history and geologic disasters, situate the Sacro Bosco in the complex social and cultural matrix from which it was produced and in which it was received. In particular, a case is made for the central role of the immediate physical surroundings--the area's history, geology and topography--when seeking to understand the space. It is a site that should be seen as engaging with regional concerns. In focussing on the site's afterlife, moreover, this thesis is interested in how canons have been formed within Garden and Landscape Studies and Renaissance Art History, and how the past is reinterpreted at different moments according to shifting political agendas, and social and cultural horizons.
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