Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time

2021 ◽  
Author(s):  
Stéfanie Parisien‐La Salle ◽  
Nadine Dumas ◽  
Karine Bédard ◽  
Judith Jolin ◽  
Jessica Moramarco ◽  
...  
Keyword(s):  
Over Time ◽  
Multigene Panel

Genetic Spectrum in a Canadian Cohort of Apparently Sporadic Pheochromocytomas and Paragangliomas (PPGLs): New Data on Multigene Panel Retesting Over Time

2021 ◽  
Vol 45 (7) ◽  
pp. S19
Author(s):  
Stefanie Parisien-La Salle ◽  
Nadine Dumas ◽  
Karine Bédard ◽  
Judith Jolin ◽  
Jessica Moramarco ◽  
...  
Keyword(s):  
Over Time ◽  
Multigene Panel

scholarly journals Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Antía Fernández-Pombo ◽  
José M. Cameselle-Teijeiro ◽  
Jose A. Puñal-Rodríguez ◽  
Lourdes Loidi ◽  
Roberto Peinó-García ◽  
...  
Keyword(s):  
Adrenal Medulla ◽  
Clinical Presentation ◽  
Susceptibility Gene ◽  
Biochemical Profile ◽  
Phenotype Correlation ◽  
Panel Testing ◽  
Larger Sample ◽  
Disease Free ◽  
Over Time ◽  
Multigene Panel

Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20–30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of TMEM127-related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leufs∗52) in the TMEM127 gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in TMEM127-positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.

Are we still adjusting to multigene panel testing? An NCI-designated cancer center's 2-year experience.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1585-1585
Author(s):  
Chethan Ramamurthy ◽  
Mark A. Hitrik ◽  
Lyudmila DeMora ◽  
Andrea Forman ◽  
Kim Rainey ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hereditary Cancer ◽  
Cancer Center ◽  
Genetic Tests ◽  
Detection Rates ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Disease Specific ◽  
Over Time ◽  
Multigene Panel

1585 Background: Genetic testing for hereditary cancer predisposition has rapidly changed over the past few years with the introduction of multigene panel testing. Multigene testing has evolved from disease-agnostic comprehensive (C) panels alone to include disease-specific but expanded (DSE) panels as well as guideline-based (GB) panels. We analyzed trends in utilization of genetic testing over a two-year period in one NCI-designated Cancer Center, hypothesizing that over time genetic testing usage would trend toward more disease-specific panels. Methods: We conducted a retrospective analysis of our program’s database for all germline genetic tests ordered from 9/1/2013 to 8/31/2015 (n = 619; 246 in year 1, and 373 in year 2). Tests were categorized into three groups based on specificity: GB (range: 2-12 genes tested), DSE (12-35 genes tested), and C (28-80 genes tested). The Chi-square test was used to analyze test types ordered in year 1 (9/1/2013-8/31/2014) and year 2 (9/1/2014 – 8/31/2015) and the proportions of resulting mutation types. Results: A total of 604 germline genetic tests met the inclusion criteria: 39 GB (20 year 1, 19 year 2), 171 DSE (43 year 1, 128 year 2), and 394 C (180 year 1, 214 year 2). Compared to year 1, a larger proportion of DSE tests (35% v. 18%, p < 0.001), and a smaller proportion of C tests (59% v. 74%, p < 0.001) and GB tests (5% vs. 8%, p = 0.146) were ordered. DSE panels revealed a pathogenic variant (PV) at a rate of 16% and a variant of unknown significance (VUS) at a rate of 24%. C tests revealed a PV and VUS at rates of 14% and 29%, respectively. GB tests revealed a PV and VUS at rates of 21% and 18%, respectively. No statistically significant differences in detection rates of mutation types (PV or VUS) were found between GB, DSE, or C tests. Conclusions: The rates of PV detection were not significantly different between test types, but the profile of tests ordered changed over time to favor DSE panels. Exploration of factors contributing to changing trends in genetic testing are warranted as counselors and clinicians adapt to the quickly expanding number of genes associated with hereditary cancer risks, many of them moderate-risk, and the evolving landscape of multigene panel testing.

Social transmission bias and the cultural evolution of folk-economic beliefs

2018 ◽  
Vol 41 ◽  
Author(s):  
David Hirshleifer ◽  
Siew Hong Teoh
Keyword(s):  
Cultural Evolution ◽  
Social Transmission ◽  
Cognitive Approach ◽  
Economic Problems ◽  
Economic Attitudes ◽  
The Social ◽  
Economic Beliefs ◽  
Over Time

AbstractEvolved dispositions influence, but do not determine, how people think about economic problems. The evolutionary cognitive approach offers important insights but underweights the social transmission of ideas as a level of explanation. The need for asocialexplanation for the evolution of economic attitudes is evidenced, for example, by immense variations in folk-economic beliefs over time and across individuals.

Articulatory Generalization in Two Word-Medial, Ambisyllabic Contexts

1988 ◽  
Vol 19 (3) ◽  
pp. 251-258 ◽  
Author(s):  
Virginia I. Wolfe ◽  
Suzanne D. Blocker ◽  
Norma J. Prater
Keyword(s):  
Common View ◽  
Perceptual Salience ◽  
The Common ◽  
Unitary Concept ◽  
Over Time

Articulatory generalization of velar cognates /k/, /g/ in two phonologically disordered children was studied over time as a function of sequential word-morpheme position training. Although patterns of contextual acquisition differed, correct responses to the word-medial, inflected context (e.g., "picking," "hugging") occurred earlier and exceeded those to the word-medial, noninflected context (e.g., "bacon," "wagon"). This finding indicates that the common view of the word-medial position as a unitary concept is an oversimplification. Possible explanations for superior generalization to the word-medial, inflected position are discussed in terms of coarticulation, perceptual salience, and the representational integrity of the word.

Treatment Fidelity Procedures for an Aphasia Intervention Within a Randomized Controlled Trial: Design, Feasibility, and Results

2020 ◽  
Vol 29 (1S) ◽  
pp. 412-424
Author(s):  
Elissa L. Conlon ◽  
Emily J. Braun ◽  
Edna M. Babbitt ◽  
Leora R. Cherney
Keyword(s):  
Randomized Controlled Trial ◽  
Controlled Trial ◽  
Treatment Protocol ◽  
Treatment Fidelity ◽  
Protocol Adherence ◽  
Study Condition ◽  
Randomized Controlled ◽  
Aphasia Therapy ◽  
Percent Accuracy ◽  
Over Time

Purpose This study reports on the treatment fidelity procedures implemented during a 5-year randomized controlled trial comparing intensive and distributed comprehensive aphasia therapy. Specifically, the results of 1 treatment, verb network strengthening treatment (VNeST), are examined. Method Eight participants were recruited for each of 7 consecutive cohorts for a total of 56 participants. Participants completed 60 hr of aphasia therapy, including 15 hr of VNeST. Two experienced speech-language pathologists delivered the treatment. To promote treatment fidelity, the study team developed a detailed manual of procedures and fidelity checklists, completed role plays to standardize treatment administration, and video-recorded all treatment sessions for review. To assess protocol adherence during treatment delivery, trained research assistants not involved in the treatment reviewed video recordings of a subset of randomly selected VNeST treatment sessions and completed the fidelity checklists. This process was completed for 32 participants representing 2 early cohorts and 2 later cohorts, which allowed for measurement of protocol adherence over time. Percent accuracy of protocol adherence was calculated across clinicians, cohorts, and study condition (intensive vs. distributed therapy). Results The fidelity procedures were sufficient to promote and verify a high level of adherence to the treatment protocol across clinicians, cohorts, and study condition. Conclusion Treatment fidelity strategies and monitoring are feasible when incorporated into the study design. Treatment fidelity monitoring should be completed at regular intervals during the course of a study to ensure that high levels of protocol adherence are maintained over time and across conditions.

Percutaneous Tracheostomy: A Multidisciplinary Approach

2008 ◽  
Vol 18 (2) ◽  
pp. 87-98 ◽  
Author(s):  
Vinciya Pandian ◽  
Thai Tran Nguyen ◽  
Marek Mirski ◽  
Nasir Islam Bhatti
Keyword(s):  
Health Care ◽  
Quality Assurance ◽  
Data Collection ◽  
Health Care Professionals ◽  
Multidisciplinary Approach ◽  
Percutaneous Tracheostomy ◽  
Johns Hopkins Hospital ◽  
Prospective Data ◽  
Comprehensive Service ◽  
Over Time

Abstract The techniques of performing a tracheostomy has transformed over time. Percutaneous tracheostomy is gaining popularity over open tracheostomy given its advantages and as a result the number of bedside tracheostomies has increased necessitating the need for a Percutaneous Tracheostomy Program. The Percutaneous Tracheostomy Program at the Johns Hopkins Hospital is a comprehensive service that provides care to patients before, during, and after a tracheostomy with a multidisciplinary approach aimed at decreasing complications. Education is provided to patients, families, and health-care professionals who are involved in the management of a tracheostomy. Ongoing prospective data collection serves as a tool for Quality Assurance.

High-Risk Youth Behaviors Decreasing Over Time

2008 ◽  
Vol 42 (7) ◽  
pp. 26-27
Author(s):  
MARY ELLEN SCHNEIDER
Keyword(s):  
High Risk ◽  
High Risk Youth ◽  
Over Time ◽  
Youth Behaviors
Sign in / Sign up

Export Citation Format

Share Document