Occludin Is Essential to Maintain Normal Alveolar Barrier Integrity and Its Protective Role During ARDS Progression.

Acute respiratory distress syndrome (ARDS) is a severe lung condition without targeted therapy that is characterized by the disruption of epithelial and endothelial barriers. The role of the tight junction protein occludin in the pathogenesis of this disease is unknown, although it has previously been deemed redundant in some tissues. The aim of the present study is to determine whether occludin is required for lung function by controlling alveolar barrier integrity in mouse models.

All the small things: Nanoscale matrix alterations in aging tissues.

Cellular aging stems from multifaceted intra- and extracellular molecular changes that lead to the gradual deterioration of biological function. Altered extracellular matrix (ECM) properties that include biochemical, structural, and mechanical perturbations direct cellular- and tissue-level dysfunction. With recent advancements in high-resolution imaging modalities and nanomaterial strategies, the importance of nanoscale ECM features has come into focus.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

Objective: To explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations.

Study Design: In-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes.

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.

Importance: The expansion of genetic and genomic testing in health care has led to recognition that these tests provide personal as well as clinical utility to patients and families. However, available systematic reviews on this topic have not reported the demographic backgrounds of participants in studies of personal utility, leaving generalizability unclear.

Objective: To determine the demographic characteristics of participants in studies examining the personal utility of genetic and genomic testing in health care.

Immune complex-induced haptokinesis in human non-classical monocytes.

Formation and deposition of immune complexes (ICs) are hallmarks of various autoimmune diseases. Detection of ICs by IC receptors on leukocytes induces downstream signaling and shapes the local immune response. In many cases the pathological relevance of ICs is not well understood.

Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.

As genetics is increasingly used across clinical settings, there is a need to understand the impact and experiences of diverse patients. This review systematically examined research literature on Latinx experiences with genetic counseling and genetic testing (GC/GT) in the United States, synthesizing key themes and knowledge gaps pertaining to both patient experience and hypothetical scenarios. Findings were based on a systematic search, inclusion, and thematic analysis of 81 empirical peer-reviewed articles published from January 1990 to July 2019 pertaining to Latinx populations and GC/GT.

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.

Despite recent attention to increasing diversity in clinical genomics research, researchers still struggle to recruit participants from varied sociodemographic backgrounds. We examined the experiences of parents from diverse backgrounds with enrolling their children in clinical genomics research on rare diseases. We explored the barriers and facilitators parents encountered and possible impacts of sociodemographic factors on their access to research.

Precision Medicine Needs to Think Outside the Box.

Precision medicine offers a precious opportunity to change clinical practice and disrupt medicine's reliance on crude racial, ethnic, or ancestral categories by focusing on an individual's unique genetic, environmental, and lifestyle characteristics. However, precision medicine and the genomic studies that are its cornerstone have thus far failed to account for human diversity. This failure is made clearer when looking at individuals who encapsulate a mosaic of different genetic ancestries and do not fit neatly into existing population labels.

Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body.

Introduction: Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer predisposition syndromes, risk becomes embodied and shared in family groups. Embodied risk is experienced whether or not symptoms have manifested.

Updated Guidance on Use and Prioritization of Monoclonal Antibody Therapy for Treatment of COVID-19 in Adolescents.

Background: Starting in November 2020, the US Food and Drug Administration (FDA) has issued Emergency Use Authorizations (EUAs) for multiple novel virus-neutralizing monoclonal antibody therapies, including bamlanivimab monotherapy (now revoked), bamlanivimab and etesivimab, casirivimab and imdevimab (REGEN-COV), and sotrovimab, for treatment or postexposure prophylaxis of Coronavirus disease 2019 (COVID-19) in adolescents (≥12 years of age) and adults with certain high-risk conditions. Previous guidance is now updated based on new evidence and clinical experience.

Methods: A panel of experts in pediatric infectious diseases, pediatric infectious diseases pharmacotherapy, and pediatric critical care medicine from 18 geographically diverse US institutions was convened.

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.

Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data.

The cardiac nanoenvironment: form and function at the nanoscale.

Mechanical forces in the cardiovascular system occur over a wide range of length scales. At the whole organ level, large scale forces drive the beating heart as a synergistic unit. On the microscale, individual cells and their surrounding extracellular matrix (ECM) exhibit dynamic reciprocity, with mechanical feedback moving bidirectionally.

"Race was something we didn't talk about": Racial Socialization in Asian American Families.

Objective: Our goal was to explore racial socialization practices in Asian American families during a time of heightened racial tension.

Background: Asian Americans hold a complex racial position in the United States, made even more complicated by an increase in public protests regarding socioracial injustices in the United States experienced by racial minority groups. Discussions about race and ethnicity occur within Asian American families but often focus on cultural heritage rather than awareness of discrimination and the historical roots of racism.

Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants".

Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome in which individuals have a significantly increased risk of developing multiple cancers throughout the life span. An LFS diagnosis may shift the individual's sense of self and tolerance of cancer risk as they engage in cancer screening and cancer prevention activities. This study examined the impact of family identity on health decision making, communication, and role function.

Integrin α5β1 nano-presentation regulates collective keratinocyte migration independent of substrate rigidity.

Nanometer-scale properties of the extracellular matrix influence many biological processes, including cell motility. While much information is available for single-cell migration, to date, no knowledge exists on how the nanoscale presentation of extracellular matrix receptors influences collective cell migration. In wound healing, basal keratinocytes collectively migrate on a fibronectin-rich provisional basement membrane to re-epithelialize the injured skin.

Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.

Purpose: Social media may be particularly valuable in research in rare genetic diseases because of the low numbers of patients and the rare disease community's robust online presence. The goal of this systematic review was to understand how social media is currently used in rare disease research and the characteristics of the participants in these studies.

Methods: We conducted a systematic review of six databases to identify studies published in English between January 2004 and November 2020, of which 120 met inclusion criteria.

"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.

Parents of children with undiagnosed conditions struggle to obtain information about how to treat and support their children. It can be particularly challenging to find communities and other parents who share their experiences and can provide emotional and informational support. This study sought to characterize how parents use social media, both throughout the diagnostic odyssey and post-diagnosis, to meet their informational, social, and emotional support needs.

Genetic counseling and testing for Asian Americans: a systematic review.

Purpose: Asian Americans have been understudied in the literature on genetic and genomic services. The current study systematically identified, evaluated, and summarized findings from relevant qualitative and quantitative studies on genetic health care for Asian Americans.

Methods: A search of five databases (1990 to 2018) returned 8,522 unique records.