02 / Higher resolution aneuploidy screening with targeted NGS may increase the pool of transferrable embryos despite inclusion of segmental and mosaic range diagnostic categories

Author(s):  
Jason Franasiak ◽  
Scott Morin
2017 ◽  
Vol 225 (3) ◽  
pp. 175-188 ◽  
Author(s):  
Peter J. Lang ◽  
Lisa M. McTeague ◽  
Margaret M. Bradley

Abstract. Several decades of research are reviewed, assessing patterns of psychophysiological reactivity in anxiety patients responding to a fear/threat imagery challenge. Findings show substantive differences in these measures within principal diagnostic categories, questioning the reliability and categorical specificity of current diagnostic systems. Following a new research framework (US National Institute of Mental Health [NIMH], Research Domain Criteria [RDoC]; Cuthbert & Insel, 2013 ), dimensional patterns of physiological reactivity are explored in a large sample of anxiety and mood disorder patients. Patients’ responses (e.g., startle reflex, heart rate) during fear/threat imagery varied significantly with higher questionnaire measured “negative affect,” stress history, and overall life dysfunction – bio-marking disorder groups, independent of Diagnostic and Statistical Manuals (DSM). The review concludes with a description of new research, currently underway, exploring brain function indices (structure activation, circuit connectivity) as potential biological classifiers (collectively with the reflex physiology) of anxiety and mood pathology.


1981 ◽  
Vol 20 (03) ◽  
pp. 163-168 ◽  
Author(s):  
G. Llndberg

A system for probabilistic diagnosis of jaundice has been used for studying the effects of taking into account the unreliability of diagnostic data caused by observer variation. Fourteen features from history and physical examination were studied. Bayes’ theorem was used for calculating the probabilities of a patient’s belonging to each of four diagnostic categories.The construction sample consisted of 61 patients. An equal number of patients were tested in the evaluation sample. Observer variation on the fourteen features had been assessed in two previous studies. The use of kappa-statistics for measuring observer variation allowed the construction of a probability transition matrix for each feature. Diagnostic probabilities could then be calculated with and without the inclusion of weights for observer variation. Tests of system performance revealed that discriminatory power remained unchanged. However, the predictions rendered by the variation-weighted system were diffident. It is concluded that taking observer variation into account may weaken the sharpness of probabilistic diagnosis but it may also help to explain the value of probabilistic diagnosis in future applications.


2019 ◽  
Author(s):  
Babak Hemmatian ◽  
Sze Yu Yu Chan ◽  
Steven A. Sloman

A label’s entrenchment, its degree of use by members of a community, affects its perceived explanatory value even if the label provides no substantive information (Hemmatian & Sloman, 2018). In three experiments, we show that laypersons and mental health professionals see entrenched psychiatric and non-psychiatric diagnostic labels as better explanations than non-entrenched labels even if they are circular. Using scenarios involving experts who discuss unfamiliar diagnostic categories, we show that this preference is not due to violations of conversational norms, lack of reflectiveness or attentiveness, and the characters’ familiarity or unfamiliarity with the label. In Experiment 1, whether a label provided novel symptom information or not had no impact on lay responses, while its entrenchment enhanced ratings of explanation quality. The effect persisted in Experiment 2 for causally incoherent categories and regardless of direct provision of mechanistic information. The effect of entrenchment was partly related to induced causal beliefs about the category, even when participants were informed there is no causal relation. Most participants in both experiments did not report any effect of entrenchment and the effect was present for those who did not. In Experiment 3, mental health professionals showed the effect using diagnoses that were mere shorthands for symptoms, despite a tendency to rate all explanations as unsatisfactory. The data suggest that bringing experts’ attention to the manipulation eliminates the effect. We discuss practical implications for mental health disciplines and potential ways to mitigate the impact of entrenchment.


Author(s):  
Danielle Spencer

This book identifies and names the phenomenon of metagnosis: the experience of newly learning in adulthood of a long-standing condition. It can occur when the condition has remained undetected (e.g., colorblindness) and/or when the diagnostic categories themselves have shifted (e.g., ADHD). More broadly, it can occur with unexpected revelations bearing upon selfhood, such as surprising genetic test results. This phenomenon has received relatively scant attention, yet learning of an unknown condition is frequently a significant and bewildering revelation, subverting narrative expectations and customary categories. In addressing the topic this book deploys an evolution of narrative medicine as a robust research methodology comprising interdisciplinarity, narrative attentiveness, and creating a writerly text. Beginning with the author’s own experience of metagnosis, it explores the issues it raises—from communicability to narrative intelligibility to different ways of seeing. Next, it traces the distinctive metagnostic narrative arc through the stages of recognition, subversion, and renegotiation, discussing this trajectory in light of a range of metagnostic experiences, from Blade Runner to real-world midlife diagnoses. Finally, it situates metagnosis in relation to genetic revelations and the broader discourses concerning identity. Proposing that the figure of blindsight—drawn from the author’s metagnostic experience—offers a productive model for negotiating such revelations, the book suggests that better understanding metagnosis will not simply aid those directly affected but will also serve as a bellwether for how we will all navigate advancing biomedical and genomic knowledge, and how we may fruitfully interrogate the very notion of identity.


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