Racial, ethnic, and socioeconomic disparities associated with autism spectrum disorder (ASD) are evident across many service domains including access to early assessment, diagnosis, and therapeutic ...interventions. To better understand the complex social and structural factors contributing to these disparities, this article offers a systematic review of peer-reviewed qualitative research conducted from 2010 to 2016 in the United States that investigates autism disparities experienced by marginalized communities. Based on these criteria, we identified 24 qualitative research studies and conducted an analysis using meta-ethnography and an intersectional interpretive lens. We identified three interdependent themes contributing to autism disparities, including familial, cultural, and structural barriers. Omissions in the literature were also evident, including a lack of research on underserved adults with ASD and the gendered inequities of caregiving. We discuss the implications of our findings and offer new questions that take an intersectional approach using qualitative research to investigate autism disparities.
The Gram-negative opportunistic bacterium
is a significant cause of hospital-borne infections worldwide. Alarmingly, the rapid development of antimicrobial resistance coupled with the remarkable ...ability of isolates to persist on surfaces for extended periods of time has led to infiltration of
into our healthcare environments. A major virulence determinant of
is the presence of a capsule that surrounds the bacterial surface. This capsule is comprised of tightly packed repeating polysaccharide units which forms a barrier around the bacterial cell wall, providing protection from environmental pressures including desiccation and disinfection regimes as well as host immune responses such as serum complement. Additionally, capsule has been shown to confer resistance to a range of clinically relevant antimicrobial compounds. Distressingly, treatment options for
infections are becoming increasingly limited, and the urgency to develop effective infection control strategies and therapies to combat infections is apparent. An increased understanding of the contribution of capsule to the pathobiology of
is required to determine its feasibility as a target for new strategies to combat drug resistant infections. Significant variation in capsular polysaccharide structures between
isolates has been identified, with over 100 distinct capsule types, incorporating a vast variety of sugars. This review examines the studies undertaken to elucidate capsule diversity and advance our understanding of the role of capsule in
pathogenesis.
This study investigates the work and care associated with raising a child with disabilities in the United States. Based on in‐depth interviews with parents who have a child with autism, it develops ...the notion of parenting work and trajectories of care to investigate how parents navigate and coordinate the challenges of getting an autism diagnosis, obtaining educational services, and re‐contextualising the possibilities for the future. I argue that parents embody a complex mix of love, hope, and responsibility in parenting work and trajectories of care that expands temporal and social elements of illness work and trajectories initially developed by Anselm Strauss and colleagues. This type of parenting work changes over time and is influenced by social structural forces and relationships in which the care takes place. The re‐articulation of these analytic tools also begins to untangle the intricate mix of both medical and social models of disability that parents embrace and continuously negotiate. This study demonstrates how parents accept the medical model of disability by seeking and pushing for a clinical autism diagnosis and subsequent treatments, while at the same time challenge the limits placed on their children by providing them with opportunities, possible futures, and a sense of personhood.
A Virtual of this paper can be accessed at: https://www.youtube.com/watch?v=x0UmGvpcjeQ
Hidradenitis suppurativa (HS) is a common, debilitating inflammatory skin disease linked to immune dysregulation and abnormalities in follicular structure and function. Several studies have ...characterized the transcriptomic profile of affected and unaffected skin in small populations. In this study of 20 patients, RNA from lesional and matching non-lesional skin biopsies in 20 subjects were used to identify an expression-based HS disease signature. This was followed by differential expression and pathway enrichment analyses, as well as jointly reanalyzing our findings with previously published transcriptomic profiles. We establish an RNA-Seq based HS expression disease signature that is mostly consistent with previous reports. Bulk-RNA profiles from 104 subjects in 7 previously reported data sets identified a disease signature of 118 differentially regulated genes compared to three control data sets from non-lesional skin. We confirmed previously reported expression profiles and further characterized dysregulation in complement activation and host response to bacteria in disease pathogenesis. Changes in the transcriptome of lesional skin in this cohort of HS patients is consistent with smaller previously reported populations. The findings further support the significance of immune dysregulation, in particular with regard to bacterial response mechanisms. Joint analysis of this and previously reported cohorts indicate a remarkably consistent expression profile.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Is there a gene for autism? Despite a billion-dollar, twenty-year effort to find out-and the more elusive the answer, the greater the search seems to become-no single autism gene has been identified. ...InMultiple Autisms,Jennifer S. Singh sets out to discover how autism emerged as a genetic disorder and how this affects those who study autism and those who live with it. This is the first sustained analysis of the practices, politics, and meaning of autism genetics from a scientific, cultural, and social perspective.
In 2004, when Singh began her research, the prevalence of autism was reported as 1 in 150 children. Ten years later, the number had jumped to 1 in 100, with the disorder five times more common in boys than in girls. Meanwhile the diagnosis changed to "autistic spectrum disorders," and investigations began to focus more on genomics than genetics, less on single genes than on hundreds of interacting genes.Multiple Autismscharts this shift and its consequences through nine years of ethnographic observations, analysis of scientific and related literatures, and morethan seventy interviews with autism scientists, parents of children with autism, and people on the autism spectrum. The book maps out the social history of parental activism in autism genetics, the scientific optimism about finding a gene for autism and the subsequent failure, and the cost in personal and social terms of viewing and translating autism through a genomic lens.
How is genetic information useful to people living with autism? By considering this question alongside the scientific and social issues that autism research raises, Singh's work shows us the true reach and implications of a genomic gaze.
This article provides empirical evidence of the social context and moral reasoning embedded within a parents' decision to participate in autism genetics research. Based on in-depth interviews of ...parents who donated their family's blood and medical information to an autism genetic database, three narratives of participation are analyzed, including the altruistic parent, the obligated parent, and the diagnostic parent. Although parents in this study were not generally concerned with bioethical principles such as autonomy and the issues of informed consent and/or privacy and confidentiality of genetic information, a critical analysis reveals contextual bioethics embedded within these different narratives. These include the negotiations of responsibility that parents confront in biomedicai research, the misguided hope and expectations parents place in genomic science, and the structural barriers of obtaining an autism diagnosis and educational services. Based on these findings, this article demonstrates the limits of a principle-based approach to bioethics and the emergent forms of biological citizenship that takes into account the social situations of people's lives and the moral reasoning they negotiate when participating in autism genetic research.
Despite the wide range of research on autism disparities in early identification, diagnosis, and access to services in racial and ethnic minorities in the United States compared to White children, ...few studies focus distinctly on the experiences of Black single female caregivers of children with autism. The dominant research and cultural narrative of White, married, and upper-middle-class families of a child with autism devalues the standpoint and experiences of caregivers whose social and economic position situates their differential experience of raising a child with a disability. Based on a narrative analysis of three Black single female caregivers who have a child diagnosed with autism and rely on Medicaid health insurance in the southern United States, this study offers an intersectional analysis of autism service inequities in diagnosis and services driving evident disparities based on race, gender, and social class. The analysis highlights intersecting ideological, political, and economic domains and associated institutions (i.e., education, employment, housing, and governing laws) that reflect and shape these narratives of autism service inequities. This study re-centers much-needed attention to the silent voices of Black single female caregivers made invisible in the structure of our society and offers a way forward by thinking critically about universal systems of care that can benefit all people.
•Racial disparities in autism diagnosis and services are evident in the U.S.•Narrative analysis of Black single female caregivers of children with autism.•Intersectionality framework addresses ideological, economic, and political barriers.•Educational, employment, housing, and governing institutions shape inequities.•The design of healthcare systems needs to consider multiples axes of power.
Objective
To evaluate a microfluidics‐based positive selection technology for isolating circulating trophoblasts (CTs) from peripheral blood of women whose pregnancies are affected by aneuploidy and ...to evaluate fetal karyotype using fluorescence in situ hybridization (FISH).
Method
Ten 18‐ml samples of peripheral blood were collected consecutively from pregnant women whose fetus was affected by aneuploidy. A preservation buffer was added, and the specimens were shipped overnight to the testing laboratory at ambient temperature. The specimen was infused into the fully automated microfluidics‐based LiquidScan® instrument without pre‐processing. This instrument contains microfluidic chips, which are coated with antibodies (anti‐huEpCAM and a proprietary antibody mixture) specific to CT surface epitopes. FISH analysis was performed on the enriched cells.
Results
Fetal aneuploidy evaluated included trisomy 21 (n = 3), trisomy 18 (n = 1), trisomy 13 (n = 1), monosomy X (n = 3), and triploidy (n = 1). CTs for analysis by FISH were identified in all samples. The average number of mononucleate cells per 1 ml of whole blood was 2.11 (range 0.38–4.63) overall and was 2.67 (range 1.13–4.63) using the proprietary combination of antibodies. FISH results were concordant with the aneuploidy based on other testing in all cases. Multinucleate cells were searched for and identified in the last seven samples (average number: 0.84/1 ml).
Conclusions
Our study demonstrates that the LiquidScan®, a high‐sensitivity microfluidic platform, can enrich circulating trophoblasts (mononucleate and multinucleate). FISH can then be used to detect fetal aneuploidy.
Key points
What is already known about this topic?
Fetal trophoblasts are found in maternal circulation during pregnancy
Existing methods used to enrich circulating trophoblasts are time‐intensive and expensive
What does this study add?
We introduce an automated and inexpensive microfluidic platform to enrich circulating trophoblasts (mononucleate and multinucleate)
A larger number of fetal cells was captured than reported in previous publications
We identified fetal aneuploidy (trisomies 21, 18, and 13, monosomy X, triploidy) in captured cells using fluorescence in situ hybridization
Clinical heterogeneity is a cardinal feature of systemic sclerosis (SSc). Hallmark SSc autoantibodies are central to diagnosis and associate with distinct patterns of skin-based and organ-based ...complications. Understanding molecular differences between patients will benefit clinical practice and research and give insight into pathogenesis of the disease. We aimed to improve understanding of the molecular differences between key diffuse cutaneous SSc subgroups as defined by their SSc-specific autoantibodies METHODS: We have used high-dimensional transcriptional and proteomic analysis of blood and the skin in a well-characterised cohort of SSc (n=52) and healthy controls (n=16) to understand the molecular basis of clinical diversity in SSc and explore differences between the hallmark antinuclear autoantibody (ANA) reactivities.
Our data define a molecular spectrum of SSc based on skin gene expression and serum protein analysis, reflecting recognised clinical subgroups. Moreover, we show that antitopoisomerase-1 antibodies and anti-RNA polymerase III antibodies specificities associate with remarkably different longitudinal change in serum protein markers of fibrosis and divergent gene expression profiles. Overlapping and distinct disease processes are defined using individual patient pathway analysis.
Our findings provide insight into clinical diversity and imply pathogenetic differences between ANA-based subgroups. This supports stratification of SSc cases by ANA antibody subtype in clinical trials and may explain different outcomes across ANA subgroups in trials targeting specific pathogenic mechanisms.
This study examined how a racially and socioeconomically diverse group of caregivers of children with autism spectrum disorder (ASD) responds to national standard measures of family-centered care ...(FCC) and care coordination (CC) and what aspects of quality care are missing from these measures. Based on survey and interview data collected from 70 caregivers who have a child with ASD that receive services at a community-based autism clinic located in Atlanta, GA, we compared proportions of answers to FCC and CC questions to national and state representative data using chi-square analyses and contextualized our findings through a thematic analysis of qualitative interviews. Compared to national- and state-level data, the Atlanta autism clinic data had a higher percentage of participants who identified as Black, relied on public health insurance, and lived below 200% of the federal poverty line. The Atlanta autism clinic responses were significantly more positive in four measures of FCC but significantly less effective in two CC measures, including a lower reported percentage who received CC and greater reported percentage who needed extra help. Qualitative data revealed a range of positive meanings and challenges associated with FCC and identified areas of help needed beyond CC, including physical and mental health care and emotional connection, especially for low-income single Black female caregivers. Our mixed-method approach identified strengths in FCC, barriers to CC, and suggestions for developing more pragmatic questions in national surveys that address experiences of quality-of-care among low-income, racial minority families of children with ASD.
PDF
