Deliberations about clinical pharmacogenetic testing in pediatric oncology

2021 ◽  
Author(s):  
Amalia M Issa ◽  
Sarah AE Aboushawareb ◽  
David D Eisenstat ◽  
Greg MT Guilcher ◽  
Geoffrey Liu ◽  
...  

This article summarizes the background, content and outcomes of a special meeting that was convened among oncologists and scientists to discuss the role of pharmacogenetic (PGx) testing in pediatric clinical oncology practice. This meeting provided an opportunity for what the lead author (AM Issa) refers to as the ‘voice of the clinician’ dynamic to be amplified in order to better understand how personalized or precision medicine applications such as PGx testing are adopted and incorporated into clinical settings and what we can learn from the experiences of current and ongoing implementation PGx approaches to further the implementation of precision medicine applications in real-world environments. Group dynamics and clinical experience with PGx testing and return of results shaped the discussion.

2009 ◽  
Vol 150 (46) ◽  
pp. 2101-2109 ◽  
Author(s):  
Péter Csécsei ◽  
Anita Trauninger ◽  
Sámuel Komoly ◽  
Zsolt Illés

The identification of autoantibodies generated against the brain isoform water channel aquaporin4 in the sera of patients, changed the current diagnostic guidelines and concept of neuromyelitis optica (NMO). In a number of cases, clinical manifestation is spatially limited to myelitis or relapsing optic neuritis creating a diverse. NMO spectrum. Since prevention of relapses provides the only possibility to reduce permanent disability, early diagnosis and treatment is mandatory. In the present study, we discuss the potential role of neuroimaging and laboratory tests in differentiating the NMO spectrum from other diseases, as well as the diagnostic procedures and therapeutic options. We also present clinical cases, to provide examples of different clinical settings, diagnostic procedures and therapeutic decisions.


2012 ◽  
Vol 8 (3) ◽  
pp. 197-210
Author(s):  
Susan M. Bridges ◽  
Cynthia K.Y. Yiu ◽  
Colman P. McGrath

In clinical dental consultations in multilingual contexts, medical interpreting is often performed by the supporting staff as part of routine triadic formulations. As academic dentistry becomes increasingly internationalised, issues of language and culture add to the interactional complexity of clinical communication and education. A multivariate approach was adopted to investigate one case of multilingualism in dentistry in Asia. Collection of both survey (n=86) and interactional data provided empirical evidence regarding language use and language demands across integrated Polyclinics. Descriptive statistics of Dental Surgery Assistant (DSA) perception data and conversation analysis (CA) of mediated interpretation indicate that, as members of the oral healthcare team, DSAs in Hong Kong are an essential resource in their role of intercultural mediators between patients and clinicians, both staff and students. Discussion of sociolinguistic notions of place-as-location and place-as-meaning supports a wider conceptualisation of the role of support staff as interpreters in clinical settings. Implications are drawn for policy, curriculum and staff development.


2018 ◽  
Author(s):  
Karina W. Davidson ◽  
Ying Kuen Cheung ◽  
Thomas McGinn ◽  
Y. Claire Wang
Keyword(s):  

2021 ◽  
pp. 088506662199232
Author(s):  
Xiaojuan Zhang ◽  
Xin Li

Septic shock with multiple organ failure is a devastating situation in clinical settings. Through the past decades, much progress has been made in the management of sepsis and its underlying pathogenesis, but a highly effective therapeutic has not been developed. Recently, macromolecules such as histones have been targeted in the treatment of sepsis. Histones primarily function as chromosomal organizers to pack DNA and regulate its transcription through epigenetic mechanisms. However, a growing body of research has shown that histone family members can also exert cellular toxicity once they relocate from the nucleus into the extracellular space. Heparin, a commonly used anti-coagulant, has been shown to possess life-saving capabilities for septic patients, but the potential interplay between heparin and extracellular histones has not been investigated. In this review, we summarize the pathogenic roles of extracellular histones and the therapeutic roles of heparin in the development and management of sepsis and septic shock.


Author(s):  
Tiantian Yue ◽  
Fei Sun ◽  
Faxi Wang ◽  
Chunliang Yang ◽  
Jiahui Luo ◽  
...  

AbstractThe methyl-CpG-binding domain 2 (MBD2) interprets DNA methylome-encoded information through binding to the methylated CpG DNA, by which it regulates target gene expression at the transcriptional level. Although derailed DNA methylation has long been recognized to trigger or promote autoimmune responses in type 1 diabetes (T1D), the exact role of MBD2 in T1D pathogenesis, however, remains poorly defined. Herein, we generated an Mbd2 knockout model in the NOD background and found that Mbd2 deficiency exacerbated the development of spontaneous T1D in NOD mice. Adoptive transfer of Mbd2−/− CD4 T cells into NOD.scid mice further confirmed the observation. Mechanistically, Th1 stimulation rendered the Stat1 promoter to undergo a DNA methylation turnover featured by the changes of DNA methylation levels or patterns along with the induction of MBD2 expression, which then bound to the methylated CpG DNA within the Stat1 promoter, by which MBD2 maintains the homeostasis of Th1 program to prevent autoimmunity. As a result, ectopic MBD2 expression alleviated CD4 T cell diabetogenicity following their adoptive transfer into NOD.scid mice. Collectively, our data suggest that MBD2 could be a viable target to develop epigenetic-based therapeutics against T1D in clinical settings.


2021 ◽  
Vol 23 (2) ◽  
Author(s):  
Silvia Rosina ◽  
Cecilia Beatrice Chighizola ◽  
Angelo Ravelli ◽  
Rolando Cimaz

Abstract Purpose of Review Elucidating the pathogenic mechanisms mediated by antiphospholipid antibodies (aPL) might exert important clinical implications in pediatric antiphospholipid syndrome (APS). Recent Findings aPL are traditionally regarded as the main pathogenic players in APS, inducing thrombosis via the interaction with fluid-phase and cellular components of coagulation. Recent APS research has focused on the role of β2 glycoprotein I, which bridges innate immunity and coagulation. In pediatric populations, aPL should be screened in appropriate clinical settings, such as thrombosis, multiple-organ dysfunction, or concomitant systemic autoimmune diseases. Children positive for aPL tests often present non-thrombotic non-criteria manifestations or asymptomatic aPL positivity. In utero aPL exposure has been suggested to result in developmental disabilities, warranting long-term follow-up. Summary The knowledge of the multifaceted nature of pediatric APS should be implemented to reduce the risk of underdiagnosing/undertreating this condition. Hopefully, recent pathogenic insights will open new windows of opportunity in the management of pediatric APS.


2020 ◽  
Vol 18 (3) ◽  
pp. 312-327
Author(s):  
Barbara Heebels ◽  
Irina Van Aalst

CCTV surveillance is a cultural practice and collective effort. CCTV not only involves a technical assemblage that is used to discipline the surveilled, it is also a social assemblage in which the informal practices of operators play a major role in the multiple interpretations of images. This paper provides insights into the daily work practices and discourses of CCTV operators and their supervisors through observations of and interviews in the control room of public CCTV surveillance in Rotterdam. By providing a better understanding of the role of people in socio-technical assemblages, this paper contributes to the discussion on human mediation in computerized networks. The paper contributes to the expanding literature on surveillance as a cultural practice by combining insights on social sorting with insights on collective evaluation of unfolding situations—i.e., how group dynamics within the control room influence how people are “judged.” Building on Goffman’s frame analysis, the paper reveals the crucial role of talk and humor in re-performing what happens on the streets as well as evaluating situations and the people watched. Moreover, it discusses how these collective re-performances of what is being watched both reproduce and reshape “othering” practices within the control room. The paper shows how humorous utterances play an important part in overcoming hierarchy and collectively managing emotions, and explores how this humor influences profiling on the basis of bodily appearance.


Author(s):  
Clare Tyrer

AbstractThe gap between how learners interpret and act upon feedback has been widely documented in the research literature. What is less certain is the extent to which the modality and materiality of the feedback influence students’ and teachers’ perceptions. This article explores the semiotic potential of multimodal screen feedback to enhance written feedback. Guided by an “Inquiry Graphics” approach, situated within a semiotic theory of learning edusemiotic conceptual framework, constructions of meaning in relation to screencasting feedback were analysed to determine how and whether it could be incorporated into existing feedback practices. Semi-structured video elicitation interviews with student teachers were used to incorporate both micro and macro levels of analysis. The findings suggested that the relationship between the auditory, visual and textual elements in multimodal screen feedback enriched the feedback process, highlighting the importance of form in addition to content to aid understanding of written feedback. The constitutive role of design and material artefacts in feedback practices in initial teacher training pertinent to these findings is also discussed.


IFLA Journal ◽  
2021 ◽  
pp. 034003522098757
Author(s):  
Kirsten Thorpe

Libraries and archives are troubling spaces for Indigenous Australian people as they are sites of renewal and truth-telling as well as sites of deep tension. The topic of people’s cultural safety in libraries and archives is one that is being commonly discussed. However, limited research has been undertaken on the topic to reveal the issues and concerns of people who work on the front line in these institutions. This article discusses the dangers of libraries and archives for Indigenous Australian workers by introducing doctoral research on the topic of Indigenous archiving and cultural safety: Examining the role of decolonisation and self-determination in libraries and archives. The aim of the article is to bring greater visibility to the voice and experiences of Indigenous Australian people who are working to facilitate access to collections in libraries and archives.


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