scholarly journals CAPTURING IMPACT ON STUDENTS PARTICIPATING IN AGING IN PLACE: A PROGRAM TO ENHANCE GERIATRIC EDUCATION

2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S761-S761
Author(s):  
Stephen T Smilowitz ◽  
Elizabeth O’Toole ◽  
Diana L Morris ◽  
Todd Fennimore ◽  
Cynthia Booth-Lord ◽  
...  
Keyword(s):  
Program Completion ◽  
Community Dwelling ◽  
Student Growth ◽  
Theory Approach ◽  
Coding System ◽  
Loss Of Function ◽  
Systematic Analysis ◽  
Evaluation Approach ◽  
Student Teams ◽  
Student Reflections

Abstract Curricula to enhance healthcare students’ geriatric training has been lacking. Therefore, we developed AIP, an interprofessional (IP) community-based curriculum, in which IP student teams visit community-dwelling older adults. Using established instruments did not capture personal and professional changes experienced by students. Thus, an additional method using qualitative analyses of students’ six post-visit reflections over 15 weeks was employed to evaluate students ‘experiential learning. A grounded theory approach was used to describe students’ growth in geriatric proficiencies related to participation in the January-April 2017 AIP program . By program completion, 21 students had submitted 111 reflective essays. An interdisciplinary panel reviewed a sample of reflections and developed an initial coding system, which was then systematically applied to the whole via QSR-NVivo. Seventy-three distinct codes across 111 student essays generated 2515 occurrences. Prevalent themes, revealed by frequency analysis, and themes with remarkable trendlines yielded fifteen central themes. Students became attuned to their client’s life-world (n=185) as demonstrated by four central themes: 1) isolation, loneliness, and depression (n=44); 2) risks of fall (n=19); 3) loss of function/control (n=98); and, 4) importance of socializing in care (n=24). This attunement informed interactional intentionality (n=284), which shaped interactions with their client (n=207). From these authentic encounters, students described learning about 1) myself; 2) current and future practice; 3) team dynamics; and 4) my client as an older person. Systematic analysis of student reflections revealed student growth attributable to AIP. This evaluation approach should be further assessed in geriatric curricula.

The Measurement of Performance in Probabilistic Diagnosis IV. Utility Considerations in Therapeutics and Prognostics

1981 ◽  
Vol 20 (02) ◽  
pp. 80-96 ◽  
Author(s):  
J. D. F. Habbema ◽  
J. Hilden
Keyword(s):  
Decision Theory ◽  
Figure Of Merit ◽  
Acute Abdominal Pain ◽  
Theory Approach ◽  
Expected Loss ◽  
Patient Benefit ◽  
Evaluation Approach ◽  
Average Loss ◽  
Actual Decision ◽  
Probabilistic Diagnosis

It is argued that it is preferable to evaluate probabilistic diagnosis systems in terms of utility (patient benefit) or loss (negative benefit). We have adopted the provisional strategy of scoring performance as if the system were the actual decision-maker (not just an aid to him) and argue that a rational figure of merit is given by the average loss which patients would incur by having the system decide on treatment, the treatment being selected according to the minimum expected loss principle of decision theory.A similar approach is taken to the problem of evaluating probabilistic prognoses, but the fundamental differences between treatment selection skill and prognostic skill and their implications for the assessment of such skills are stressed. The necessary elements of decision theory are explained by means of simple examples mainly taken from the acute abdomen, and the proposed evaluation tools are applied to Acute Abdominal Pain data analysed in our previous papers by other (not decision-theoretic) means. The main difficulty of the decision theory approach, viz. that of obtaining good medical utility values upon which the analysis can be based, receives due attention, and the evaluation approach is extended to cover more realistic situations in which utility or loss values vary from patient to patient.

scholarly journals Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 470
Author(s):  
Jeremy W. Prokop ◽  
Caleb P. Bupp ◽  
Austin Frisch ◽  
Stephanie M. Bilinovich ◽  
Daniel B. Campbell ◽  
...  
Keyword(s):  
Brain Development ◽  
Neural Progenitor Cells ◽  
Neurodevelopmental Disorder ◽  
Fetal Brain ◽  
Missense Variant ◽  
Neural Progenitor ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Systematic Analysis ◽  
Function Expression

Ornithine decarboxylase 1 (ODC1 gene) has been linked through gain-of-function variants to a rare disease featuring developmental delay, alopecia, macrocephaly, and structural brain anomalies. ODC1 has been linked to additional diseases like cancer, with growing evidence for neurological contributions to schizophrenia, mood disorders, anxiety, epilepsy, learning, and suicidal behavior. The evidence of ODC1 connection to neural disorders highlights the need for a systematic analysis of ODC1 genotype-to-phenotype associations. An analysis of variants from ClinVar, Geno2MP, TOPMed, gnomAD, and COSMIC revealed an intellectual disability and seizure connected loss-of-function variant, ODC G84R (rs138359527, NC_000002.12:g.10444500C > T). The missense variant is found in ~1% of South Asian individuals and results in 2.5-fold decrease in enzyme function. Expression quantitative trait loci (eQTLs) reveal multiple functionally annotated, non-coding variants regulating ODC1 that associate with psychiatric/neurological phenotypes. Further dissection of RNA-Seq during fetal brain development and within cerebral organoids showed an association of ODC1 expression with cell proliferation of neural progenitor cells, suggesting gain-of-function variants with neural over-proliferation and loss-of-function variants with neural depletion. The linkage from the expression data of ODC1 in early neural progenitor proliferation to phenotypes of neurodevelopmental delay and to the connection of polyamine metabolites in brain function establish ODC1 as a bona fide neurodevelopmental disorder gene.

scholarly journals Multiplex enCas12a screens detect functional buffering among paralogs otherwise masked in monogenic Cas9 knockout screens

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Merve Dede ◽  
Megan McLaughlin ◽  
Eiru Kim ◽  
Traver Hart
Keyword(s):  
Cell Lines ◽  
Protein Complexes ◽  
Gene Knockout ◽  
Essential Genes ◽  
Loss Of Function ◽  
Systematic Analysis ◽  
Synthetic Lethal ◽  
Synthetic Lethal Interactions ◽  
Crispr Screen ◽  
A Cell

Abstract Background Pooled library CRISPR/Cas9 knockout screening across hundreds of cell lines has identified genes whose disruption leads to fitness defects, a critical step in identifying candidate cancer targets. However, the number of essential genes detected from these monogenic knockout screens is low compared to the number of constitutively expressed genes in a cell. Results Through a systematic analysis of screen data in cancer cell lines generated by the Cancer Dependency Map, we observe that half of all constitutively expressed genes are never detected in any CRISPR screen and that these never-essentials are highly enriched for paralogs. We investigated functional buffering among approximately 400 candidate paralog pairs using CRISPR/enCas12a dual-gene knockout screening in three cell lines. We observe 24 synthetic lethal paralog pairs that have escaped detection by monogenic knockout screens at stringent thresholds. Nineteen of 24 (79%) synthetic lethal interactions are present in at least two out of three cell lines and 14 of 24 (58%) are present in all three cell lines tested, including alternate subunits of stable protein complexes as well as functionally redundant enzymes. Conclusions Together, these observations strongly suggest that functionally redundant paralogs represent a targetable set of genetic dependencies that are systematically under-represented among cell-essential genes in monogenic CRISPR-based loss of function screens.

scholarly journals Improving the psychometric properties of the dissociative experiences scale (DES-II): a Rasch validation study

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Aristide Saggino ◽  
Giorgia Molinengo ◽  
Guyonne Rogier ◽  
Carlo Garofalo ◽  
Barbara Loera ◽  
...  
Keyword(s):  
Psychometric Properties ◽  
Measurement Invariance ◽  
High Reliability ◽  
Community Dwelling ◽  
Test Theory ◽  
Self Report ◽  
Theory Approach ◽  
Response Scale ◽  
Dissociative Experiences Scale ◽  
Dissociative Experiences

Abstract Background The Dissociative Experiences Scale-II (DES-II) is a self-report questionnaire that measures dissociative experiences such as derealization, depersonalization, absorption and amnesia. The DES-II has been prevalently used as a screening tool in patients suffering from psychotic disorders or schizophrenia. However, dissociative experiences can also be part of normal psychological life. Despite its popularity, the most problematic aspect of the DES-II is the inconsistency in its factor structure, which is probably due to the tendency to treat ordinal responses as responses on an interval scale, as it is assumed in the Classical Test Theory approach. In order to address issues related to the inconsistency of previous results, the aim of the present study was to collect new psychometric evidence to improve the properties of the DES-II using Rasch analysis, i.e. analyzing the functioning of the response scale. Methods Data were obtained on a sample composed by 320 Italian participants (122 inmates and 198 community-dwelling individuals) and were analyzed with the Rasch model. This model allows the estimation of participants’ level of dissociation, the degree of misfit of each item, the reliability of each item, and their measurement invariance. Moreover, Rasch estimation allows to determine the best response scale, in terms of response modalities number and their discriminant power. Results Three items of the scale had strong misfit. After their deletion, the resulting scale was composed by 25 items, which had low levels of misfit and high reliability, and showed measurement invariance. Participants tended to select more often lower categories of the response scale. Conclusions Results provided new knowledge on the DES-II structure and its psychometric properties, contributing to the understanding and measurement of the dissociation construct.

Older Patient–Physician Discussion About Exercise

2011 ◽  
Vol 19 (3) ◽  
pp. 225-238 ◽  
Author(s):  
Ronald D. Adelman ◽  
Michele G. Greene ◽  
Erika Friedmann ◽  
Marcia G. Ory ◽  
Caitlin E. Snow
Keyword(s):  
Primary Care Physicians ◽  
Interaction Analysis ◽  
Community Dwelling ◽  
Coding System ◽  
Older Patient ◽  
Cross Sectional ◽  
Convenience Sample ◽  
Research Attention ◽  
Dimensional Interaction

This cross-sectional observational study examined the frequency of older patient–physician discussions about exercise, who initiates discussions, and the quality of questioning, informing, and support about exercise. The study used a convenience sample of 396 follow-up visits at 3 community-based practice sites, with 376 community-dwelling older patients and 43 primary-care physicians. Audiotapes were analyzed using the Multi-Dimensional Interaction Analysis coding system. Results demonstrate that exercise was discussed in 13% of visits and the subject was raised equally by patients and physicians. Exercise was significantly more likely to be discussed in dyadic visits (14.7%) than in triadic visits (4.1%). Patient level of education, patient overall physical health, and the physician’s being female were significant predictors of the occurrence of exercise discussion. Given the importance of exercise for maintaining health and independence in older adults, more clinical and research attention is needed to address barriers to effective discussions in this area.

scholarly journals Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Kai Yu Ma ◽  
Michiel R. Fokkens ◽  
Teus van Laar ◽  
Dineke S. Verbeek
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Missense Variant ◽  
Population Based ◽  
Loss Of Function ◽  
Systematic Analysis ◽  
Missense Variants ◽  
Variants Of Unknown Significance ◽  
Disease Case ◽  
Unknown Significance

AbstractPathogenic variants in PINK1 cause early-onset Parkinson’s disease. Although many PINK1 variants have been reported, the clinical significance is uncertain for the majority of them. To gain insights into the consequences of PINK1 missense variants in a systematic manner, we selected 50 PINK1 missense variants from patient- and population-wide databases and systematically classified them using Sherloc, a comprehensive framework for variant interpretation based on ACMG-AMP guidelines. We then performed functional experiments, including mitophagy and Parkin recruitment assays, to assess the downstream consequences of PINK1 variants. Analysis of PINK1 missense variants based on Sherloc showed that the patient databases over-annotate variants as likely pathogenic. Furthermore, our study shows that pathogenic PINK1 variants are most often linked to a loss-of-function for mitophagy and Parkin recruitment, while this is not observed for variants of unknown significance. In addition to the Sherloc framework, the added layer of evidence of our functional tests suggests a reclassification of 9/50 missense variants. In conclusion, we suggest the assessment of multiple layers of evidence, including functional data on top of available clinical and population-based data, to support the clinical classification of a variant and show that the presence of a missense variant in PINK1 in a Parkinson’s disease case does not automatically imply pathogenicity.

scholarly journals Envisioning a socially accountable doctor: a three-axis curriculum emerging from final-year medical student reflections

2018 ◽  
Vol 2 (1) ◽  
pp. 76
Author(s):  
Lionel Green-Thompson ◽  
Patricia McInerney ◽  
Robert Woollard
Keyword(s):  
Medical Student ◽  
Teaching And Learning ◽  
Social Accountability ◽  
Medical Graduate ◽  
Theory Approach ◽  
Community Needs ◽  
Creative Commons ◽  
Progressive Development ◽  
Meaningful Relationships ◽  
Student Reflections

Social accountability in health professions education is important for the reduction of health disparities. There is a need for the development of curricula which begin to produce graduates who are responsive to community needs. These curricula need to include dialogues with communities, deep reflection and a transformative perspective. This study used a grounded theory approach to explore the perceptions of social accountability amongst final-year medical students. These students grappled with the definition of social accountability but described it as the tension between obligation and a willingness to serve. Five themes regarding social accountability were drawn from the students’ feedback: ‘it’s poorly defined’; ‘web of interconnected relationships’; ‘losing my heart and losing my compassion’; ‘more wide-angled view of things’ and ‘if I don’t go there, then who will go?’. These themes are connected through relational statements of three curricular axes of reflective practice, complexity and meaningful relationships. In each of these axes, participants identified catalysts and detractors for the progressive development of an accountable medical graduate. How to cite this article: GREEN-THOMPSON, Lionel; MCINERNEY, Patricia; WOOLLARD; Robert. Envisioning a socially accountable doctor: a three-axis curriculum emerging from final-year medical student reflections Scholarship of Teaching and Learning in the South, v. 2, n. 1, p. 76-94, Apr. 2018. Available at: Available at: http://sotl-south-journal.net/?journal=sotls&page=article&op=view&path%5B%5D=27   This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

scholarly journals Seeing into your Teams: An Instructor Interface to Support Team Learning

2015 ◽  
Author(s):  
Patricia Kristine Sheridan ◽  
Aidan Malone ◽  
Doug Reeve ◽  
Greg Evans
Keyword(s):  
Team Effectiveness ◽  
Team Learning ◽  
The State ◽  
Learning System ◽  
Student Growth ◽  
University Of Toronto ◽  
Student Teams ◽  
On Line ◽  
Support Team ◽  
The University

This paper outlines the design of a new instructor interface that has been added to the on-line Team-effectiveness Learning System (TELS) at the University of Toronto. TELS is a tool that supports team-based project courses by facilitating the development of individual team-effectiveness competencies in students within their teams. Instructors saw the system as beneficial for student growth, but they also saw opportunities for them to get a better understanding of the state of their student teams. As a result, TELS has now developed an instructor interface to let instructors “see” into their teams. The instructor interface has been adopted by four courses since its development

scholarly journals A de novo paradigm for male infertility

2021 ◽  
Author(s):  
MS Oud ◽  
RM Smits ◽  
HE Smith ◽  
FK Mastrorosa ◽  
GS Holt ◽  
...  
Keyword(s):  
Male Infertility ◽  
De Novo ◽  
P Value ◽  
Missense Mutations ◽  
Loss Of Function ◽  
De Novo Mutations ◽  
Systematic Analysis ◽  
Significant Enrichment

IntroductionDe novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness1. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this understudied disorder. To test this hypothesis, we performed trio-based exome-sequencing in a unique cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare protein altering DNMs were classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of Loss-of-Function (LoF) DNMs in LoF-intolerant genes (p-value=1.00×10-5) as well as predicted pathogenic missense DNMs in missense-intolerant genes (p-value=5.01×10-4). One DNM gene identified, RBM5, is an essential regulator of male germ cell pre-mRNA splicing2. In a follow-up study, 5 rare pathogenic missense mutations affecting this gene were observed in a cohort of 2,279 infertile patients, with no such mutations found in a cohort of 5,784 fertile men (p-value=0.009). Our results provide the first evidence for the role of DNMs in severe male infertility and point to many new candidate genes affecting fertility.

The Gratitude visit: Student reflections on a positive psychology experiential learning exercise

2020 ◽  
Vol 4 (2) ◽  
pp. 165-175
Author(s):  
Jackelyn Payne ◽  
Huma Babar ◽  
Elizabeth Tse ◽  
Anne Moyer
Keyword(s):  
Positive Psychology ◽  
Experiential Learning ◽  
Interpersonal Relationships ◽  
Qualitative Content Analysis ◽  
Theory Approach ◽  
Subjective Experiences ◽  
Analytic Process ◽  
Beneficial Impact ◽  
Psychology Courses ◽  
Student Reflections

This study aimed to examine students' subjective experiences and insights in response to engaging in a positive psychology exercise focused on gratefulness that was part of a college course. We conducted a qualitative content analysis of 97 reflection assignments submitted as part of undergraduate and graduate level positive psychology courses at a large public university. A grounded theory approach to qualitative research guided the analytic process. Six major themes emerged, including students’ thoughts about the interventions and difficulties with the experience, how the gratitude visit impacted their interpersonal relationships, reflections on the construct of gratitude, the effect of the intervention on their mood and stress levels, and beliefs about how the experience had and would continue to affect their lives beyond the course. Our findings support prior research suggesting the beneficial impact of experiential learning and imply that such experiential exercises are feasible in multiple levels of psychology courses.

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