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The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA) derived from aqueous humour (AH) can be used to identify somatic RB1 pathogenic variation. Here we report RB1 pathogenic variant detection, as well as cfDNA concentration in an extended cohort of 75 AH samples from 68 patients. We show cfDNA concentration is highly variable and significantly correlated with the collection point of the AH. Cell-free DNA concentrations above 5 pg/µL enabled the detection of 93% of known or expected RB1 pathogenic variants. In AH samples collected during intravitreal chemotherapy treatment (Tx), the yield of cfDNA above 5 pg/µL and subsequent variant detection was low (≤46%). However, AH collected by an anterior chamber tap after one to three cycles of primary chemotherapy (Dx1+) enabled the detection of 75% of expected pathogenic variants. Further limiting our analysis to Dx1+ samples taken after ≤2 cycles (Dx ≤ 2) provided measurable levels of cfDNA in all cases, and a subsequent variant detection rate of 95%. Early AH sampling is therefore likely to be important in maximising cfDNA concentration and the subsequent detection of somatic RB1 pathogenic variants in retinoblastoma patients undergoing conservative treatment.
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Ongoing social, economic, and political marginalization combined with racialized gender violence has sentenced Black women in the United States to disproportionate harm in the form of premature illness and death. Despite widespread recognition within the medical social sciences, public health, and social work of the health inequities that unevenly impact Black women, as a population, their suffering continues to be overlooked and marginalized in biomedical research, healthcare institutions, and health policy. This omission contributes to the naturalization and normalization of heightened morbidity and mortality of Black women. In this article, we draw from theory on necropolitics, misogynoir, and Black ecologies of care in analyzing findings from semi-structured interviews conducted between February and June 2021 with African American women (n = 16) who were experiencing a chronic health condition or caring for someone with a chronic health condition in Tucson, Arizona. Interviews explored women's healthcare-seeking behaviors, experiences with healthcare providers, and self-care and caregiving during the COVID-19 pandemic. Our findings suggest that necropolitical logics in the form of naturalization and normalization of Black women's suffering - and of the structures that render such suffering - permeated but did not entirely define women's experiences of the pandemic, including how they navigated biomedical spaces and negotiated interactions with healthcare providers, engaged in practices of care (including self-care), and perceived and made meaning of their own health statuses. We advance a Black ecologies of care framework: (1) to make visible and hold accountable necropolitical structures in tabulations of morbidity and mortality; and (2), despite the myriad harms represented in logics of necropolitics-as-usual, to foreground the life-affirming practices by women that persist nevertheless.
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Negro ou Afro-Americano , COVID-19 , Pandemias , Racismo , Autoeficácia , Saúde da Mulher , Feminino , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Estados Unidos , Arizona , Determinantes Sociais da SaúdeRESUMO
Black geographies, Black feminist anthropology, and related fields have provided substantial evidence attesting to the effects of racially violent spatial practices such as dispossession, racial segregation, mass incarceration, and redlining for the health outcomes and life chances of Black communities and other racialized groups, and conversely, the political and healing potential of placemaking projects. We foreground theory from Black geographies and Black feminist work on care to examine care/giving cartographies at the height of the COVID-19 pandemic. We present findings from semi-structured interviews conducted virtually in 2021 that combined care/giving narratives and counter-mapping with 20 African American residents of Tucson, Arizona, as part of a longer-term community-based placemaking project. Interview data underscore the spatial and discursive pervasiveness of anti-Blackness, including within biomedical spaces of care, and negative effects on health. We argue that narratives centering care/giving alongside practices of counter-mapping are indictments of the institutional structures abetting anti-Black racism as a structuring, spatial logic. [anti-Black racism, COVID-19, caregiving, counter-mapping].
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COVID-19 , Racismo , Humanos , Pandemias , Antropologia Médica , Negro ou Afro-AmericanoRESUMO
Social and political policy, human activities, and environmental change affect the ways in which microbial communities assemble and interact with people. These factors determine how different social groups are exposed to beneficial and/or harmful microorganisms, meaning microbial exposure has an important socioecological justice context. Therefore, greater consideration of microbial exposure and social equity in research, planning, and policy is imperative. Here, we identify 20 research questions considered fundamentally important to promoting equitable exposure to beneficial microorganisms, along with safeguarding resilient societies and ecosystems. The 20 research questions we identified span seven broad themes, including the following: (i) sociocultural interactions; (ii) Indigenous community health and well-being; (iii) humans, urban ecosystems, and environmental processes; (iv) human psychology and mental health; (v) microbiomes and infectious diseases; (vi) human health and food security; and (vii) microbiome-related planning, policy, and outreach. Our goal was to summarize this growing field and to stimulate impactful research avenues while providing focus for funders and policymakers.
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Doenças Transmissíveis , Microbiota , Humanos , Políticas , Justiça Social , Saúde PúblicaRESUMO
This article introduces the feminist praxis of duoethnography as a way to examine the COVID era. As a group of diverse, junior, midcareer, and senior feminist scholars, we developed a methodology to critically reflect on our positions in our institutions and social worlds. As a method, duoethnography emphasizes the dialogical intimacy that can form through anthropological work. While autoethnography draws on individual daily lives to make sense of sociopolitical dynamics, duoethnography emphasizes the relational character of research across people and practices. Taking the relational aspects of knowledge production seriously, we conceptualized this praxis as a transformative method for facilitating radical empathy, mobilizing our collective voice, and merging together our partial truths. As collective authors, interviewers, and interlocutors of this article, the anonymity of duoethnography allows us to vocalize details of the experience of living through COVID-19 that we could not have safely spoken about publicly or on our own.
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Highly expressed in the enterohepatic system, pregnane X receptor (PXR, NR1I2) is a well-characterized nuclear receptor (NR) that regulates the expression of genes in the liver and intestines that encode key drug metabolizing enzymes and drug transporter proteins in mammals. The net effect of PXR activation is to increase metabolism and clear drugs and xenobiotics from the body, producing a protective effect and mediating clinically significant drug interaction in patients on combination therapy. The complete understanding of PXR biology is thus important for the development of safe and effective therapeutic strategies. Furthermore, PXR activation is now known to specifically transrepress the inflammatory- and nutrient-signaling pathways of gene expression, thereby providing a mechanism for linking these signaling pathways together with enzymatic drug biotransformation pathways in the liver and intestines. Recent research efforts highlight numerous post-translational modifications (PTMs) which significantly influence the biological function of PXR. However, this thrust of research is still in its infancy. In the context of gene-environment interactions, we present a review of the recent literature that implicates PXR PTMs in regulating its clinically relevant biology. We also provide a discussion of how these PTMs likely interface with each other to respond to extracellular cues to appropriately modify PXR activity.
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Receptor de Pregnano X/metabolismo , Transdução de Sinais , Animais , Humanos , Modelos Biológicos , Processamento de Proteína Pós-TraducionalRESUMO
The coronavirus disease 2019 (COVID-19) pandemic introduced unique challenges to teaching at the university level, while also heightening awareness of existing social and health disparities as these shaped interactions and influenced learning outcomes in class settings. Based on ethnographic and autoethnographic data, this article reflects on teaching about human-microbial relations in the context of the course "Anthropology of Food" and specifically at the start of the pandemic. Data demonstrate how students shifted from demystifying microbes to distrusting microbes to reacquainting with microbes through a hands-on experiment with fermentation. The article introduces a microbiopolitical perspective in interpreting students' learning trajectories and ultimate course outcomes. IMPORTANCE As evidenced by classroom experiences in the midst of the COVID-19 pandemic, microbes are "good to teach with" not only within microbiology and related fields but across a variety of academic disciplines. Thinking with microbes is not a neutral process but one shaped by social, political, and economic processes. Imploring students to contemplate how power dynamics and patterns of inequality are detectable at the microbial level may offer a unique opportunity for transforming one's view of the world and our relatedness with both humans and nonhumans.
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Humans are inextricably linked to each other and our natural world, and microorganisms lie at the nexus of those interactions. Microorganisms form genetically flexible, taxonomically diverse, and biochemically rich communities, i.e., microbiomes that are integral to the health and development of macroorganisms, societies, and ecosystems. Yet engagement with beneficial microbiomes is dictated by access to public resources, such as nutritious food, clean water and air, safe shelter, social interactions, and effective medicine. In this way, microbiomes have sociopolitical contexts that must be considered. The Microbes and Social Equity (MSE) Working Group connects microbiology with social equity research, education, policy, and practice to understand the interplay of microorganisms, individuals, societies, and ecosystems. Here, we outline opportunities for integrating microbiology and social equity work through broadening education and training; diversifying research topics, methods, and perspectives; and advocating for evidence-based public policy that supports sustainable, equitable, and microbial wealth for all.
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Anthropological approaches to "immigrant mental health" as an object of ethnographic inquiry can illuminate how psychosocial well-being - or decline - and the therapeutic realm of mental health is always enacted by a variety of institutions and social actors. The ways that mental health is understood and approached across different geographical and social settings are constitutive of a range of cultural meanings, norms, and social relations. The authors in this special section provide crucial insights into the landscape of immigrant mental health and how the experience of multiple exclusions influences collective psychosocial well-being. They also illustrate the extent to which narratives shape the production of knowledge around immigration and health, engendering direct effects on public policy, social imaginaries, and community health. Future research in the anthropology of immigration and mental health will need to further elucidate the structural underpinnings and racial capitalist origins of psychosocial decline.
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Emigrantes e Imigrantes , Emigração e Imigração , Antropologia Médica , Humanos , Saúde Mental , Política PúblicaRESUMO
Italy has been on the frontlines of the European Union's "migration crisis," intercepting hundreds of thousands of migrants and asylum-seekers at sea and on its shores. Yet it has lacked adequate resources to ensure humane reception, as other forms of welfare state provisioning have also been rolled back through recent and ongoing austerity measures enforced by the EU and the IMF. While Italians face fewer employment opportunities, lower pensions, and higher taxes, migrants of precarious legal status and asylum-seekers struggle to navigate the weakened bureaucratic apparatus of the Italian state, including the health system. Drawing on ethnographic fieldwork conducted in the Italian provinces of Lazio and Sicily in early 2014 and 2016, this article documents the imbricated economic and health struggles of Italian citizens and noncitizens, and alludes to lived experiences of and community responses to economic austerity characterizing much of the Mediterranean borderlands. I argue that marginalization by the state of both citizens and noncitizens in this setting undergirds some of the local and community responses to economic austerity. Moreover, I suggest that contemporary struggles in this geopolitical context intersect in important ways with the repercussions of austerity legacies that have contributed to widespread displacement in neighboring regions and subsequent migration into the EU.
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Recessão Econômica/tendências , Alocação de Recursos para a Atenção à Saúde/métodos , Nível de Saúde , Migrantes/estatística & dados numéricos , Humanos , Itália , Pesquisa Qualitativa , Refugiados/legislação & jurisprudência , Seguridade Social/tendênciasAssuntos
Nanismo/genética , Fraturas Ósseas/genética , Osteocondrodisplasias/genética , Canais de Cátion TRPV/genética , Adolescente , Adulto , Criança , Pré-Escolar , Nanismo/complicações , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Feminino , Fraturas Ósseas/complicações , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/fisiopatologia , Humanos , Masculino , Mutação , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Fatores de RiscoRESUMO
Attention to culinary care can enrich the framing of health within medical anthropology. We focus on care practices in six Latin American kitchens to illuminate forms of health not located within a singular human subject. In these kitchens, women cared not for individuals but for meals, targeting the health of families and landscapes. Many medical anthropologists have critiqued health for its associations with biomedicine/biocapitalism, some even taking a stance 'against health.' Although sympathetic to this critique, our focus on women's practices of caring for health through food highlights dissonances between clinical and nonclinical forms of health. We call for the development of an expanded vocabulary of health that recognizes health care treatment strategies that do not target solely the human body but also social, political, and environmental afflictions.
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Culinária , Família/etnologia , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Saúde/etnologia , Refeições/etnologia , Antropologia Médica , Feminino , Humanos , América Latina/etnologiaRESUMO
In this article, I examine the various meanings of Mexican and Central American migrant women's utilization of private food assistance programs. I present findings from 20 months of ethnographic fieldwork conducted between 2008 and 2011 with migrant women, public health workers, and staff and volunteers of food assistance programs in Santa Barbara County, California. I discuss the barriers undocumented women face in accessing formal health care and the social and moral obligations that underpin these women's role in feeding others. I also document the ways in which private food assistance programs are orienting toward a focus on health in service delivery, and how women depend on provisions from these programs to support feeding practices at home. I argue that these findings are significant for current engagement by critical medical anthropologists in studying framings of "the clinic" and cultural beliefs about "deservingness."