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1.
Front Cardiovasc Med ; 10: 1254272, 2023.
Article in English | MEDLINE | ID: mdl-37795486

ABSTRACT

Background: Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins in sarcomeres, nuclear lamina, desmosomes, cytoskeleton, and mitochondria. Over half of the patients undergoing comprehensive genetic testing are left without a molecular diagnosis even when patient selection follows strict DCM criteria. Methods and results: This study was a retrospective review of patients referred for genetic testing at Blueprint Genetics due to suspected inherited DCM. Next generation sequencing panels included 23-316 genes associated with cardiomyopathies and other monogenic cardiac diseases. Variants were considered diagnostic if classified as pathogenic (P) or likely pathogenic (LP). Of the 2,088 patients 514 (24.6%) obtained a molecular diagnosis; 534 LP/P variants were observed across 45 genes, 2.7% (14/514) had two diagnostic variants in dominant genes. Nine copy number variants were identified: two multigene and seven intragenic. Diagnostic variants were observed most often in TTN (45.3%), DSP (6.7%), LMNA (6.7%), and MYH7 (5.2%). Clinical characteristics independently associated with molecular diagnosis were: a lower age at diagnosis, family history of DCM, paroxysmal atrial fibrillation, absence of left bundle branch block, and the presence of an implantable cardioverter-defibrillator. Conclusions: Panel testing provides good diagnostic yield in patients with clinically suspected DCM. Causative variants were identified in 45 genes. In minority, two diagnostic variants were observed in dominant genes. Our results support the use of genetic panels in clinical settings in DCM patients with suspected genetic etiology.

2.
BMC Med Educ ; 22(1): 510, 2022 Jun 28.
Article in English | MEDLINE | ID: mdl-35764972

ABSTRACT

BACKGROUND: Despite widespread efforts to create wellness programming in medical schools, there is a paucity of literature examining students' perception of wellness and perceptions of these programs. With the inaugural class at the Arizona campus of Mayo Clinic Alix School of Medicine (MCASOM-AZ), an opportunity arose to establish an empirically evaluated wellness curriculum that most inclusively and effectively enables medical students to flourish for years to come. The initial wellness offerings included mental health, academic success, and disability services, curriculum-embedded seminars, wellness committee driven programming, and student-proposed wellness activities. We aimed to improve the relevance and impact of medical school wellness curricula by soliciting in-depth and longitudinal perspectives of medical students themselves. As MCASOM-AZ opened in 2017, the student body at the time of study consisted of first- and second-year medical students. METHODS: Employing a mixed methods analysis of qualitative and longitudinal quantitative data, first- and second-year students at a MCASOM-AZ were invited to respond to an anonymous, online year-long survey (baseline, six months and 12 months) during the 2018-2019 academic year and participate in a structured, in-depth and in-person, peer-to-peer interview about their conceptions of wellness and the MCASOM-AZ wellness curriculum and resources. Qualitative data was coded for themes using thematic analysis strategies by independent raters. RESULTS: Nearly half of eligible students completed the baseline survey,1/3 completed all 3 time-points, and 1/5 participated in an in-depth interview. Participant age, gender, and year of school were representative of the larger student body. Although individual conceptions varied, Wellness was consistently highly valued. Family, Academic Performance, and Friends emerged as most important to well-being across time-points. Academic work arose as the largest barrier to wellness. Analysis of qualitative data revealed five themes. Despite individual differences in approaches to wellness, wellbeing was interrelated to the learning environment; mandatory wellness efforts that didn't address the medical culture met with skepticism. CONCLUSIONS: Interview responses provided understanding and context by which to interpret questionnaire responses. Academics was critical to students' identity and wellness, while also the largest barrier. Suggested curricular improvements include restructuring academic work, seamlessly integrating wellness within coursework, and offering optional individualized approaches.


Subject(s)
Academic Performance , Students, Medical , Curriculum , Humans , Mental Health , Schools, Medical , Students, Medical/psychology
3.
Front Genet ; 12: 786705, 2021.
Article in English | MEDLINE | ID: mdl-34899865

ABSTRACT

Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a variant in any previously known cardiomyopathy gene. We describe the cardiac phenotype related to homozygous truncating GCOM1 variants. Methods and Results: This study included two probands and their relatives. All the participants are of Finnish ethnicity. Whole-exome sequencing was used to test the probands; bi-directional Sanger sequencing was used to identify the GCOM1 variants in probands' family members. Clinical evaluation was performed, medical records and death certificates were obtained. Immunohistochemical analysis of myocardial samples was conducted. A homozygous GCOM1 variant was identified altogether in six individuals, all considered to be affected. None of the nine heterozygous family members fulfilled any cardiomyopathy criteria. Heart failure was the leading clinical feature, and the patients may have had a tendency for atrial arrhythmias. Conclusions: This study demonstrates the significance of GCOM1 variants as a cause of human cardiomyopathy and highlights the importance of searching for new candidate genes when targeted gene panels do not yield a positive outcome.

4.
Circ Genom Precis Med ; 14(3): e003235, 2021 06.
Article in English | MEDLINE | ID: mdl-33960826

ABSTRACT

BACKGROUND: Following an unexplained cardiac arrest, clinical genetic testing is increasingly becoming standard of care. Periodic review of variant classification is required, as reinterpretation can change the diagnosis, prognosis, and management of patients and their relatives. METHODS: This study aimed to develop and validate a standardized algorithm to facilitate clinical application of the 2015 American College of Medical Genetics and Association for Molecular Pathology guidelines for the interpretation of genetic variants. The algorithm was applied to genetic results in the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry, to assess the rate of variant reclassification over time. Variant classifications were then compared with the classifications of 2 commercial laboratories to determine the rate and identify sources of variant interpretation discordance. RESULTS: Thirty-one percent of participants (40 of 131) had at least 1 genetic variant with a clinically significant reclassification over time. Variants of uncertain significance were more likely to be downgraded (73%) to benign than upgraded to pathogenic (27%; P=0.03). For the second part of the study, 50% (70 of 139) of variants had discrepant interpretations (excluding benign variants), provided by at least 1 team. CONCLUSIONS: Periodic review of genetic variant classification is a key component of follow-up care given rapidly changing information in the field. There is potential for clinical care gaps with discrepant variant interpretations, based on the interpretation and application of current guidelines. The development of gene- and disease-specific guidelines and algorithms may provide an opportunity to further standardize variant interpretation reporting in the future. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT00292032.


Subject(s)
Heart Arrest/diagnosis , Heart Arrest/genetics , Heart Arrest/mortality , Registries , Stroke Volume/genetics , Adult , Female , Humans , Laboratories , Male , Middle Aged
5.
BMC Cardiovasc Disord ; 21(1): 126, 2021 03 05.
Article in English | MEDLINE | ID: mdl-33673806

ABSTRACT

BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. METHODS: A retrospective review of patients with a suspected clinical diagnosis of HCM referred for genetic testing at Blueprint Genetics was undertaken. The analysis included syndromic, myopathic and metabolic etiologies. Genetic test results and variant classifications were extracted from the database. Variants classified as pathogenic (P) or likely pathogenic (LP) were considered diagnostic. RESULTS: A total of 1376 samples were analyzed. Three hundred and sixty-nine tests were diagnostic (26.8%); 373 P or LP variants were identified. Only one copy number variant was identified. The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy genes. Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arrhythmia. Clinical variables that increased the likelihood of identifying a diagnostic variant included: an earlier age at diagnosis (p < 0.0001), a higher maximum wall thickness (MWT) (p < 0.0001), a positive family history (p < 0.0001), the absence of hypertension (p = 0.0002), and the presence of an implantable cardioverter-defibrillator (ICD) (p = 0.0004). CONCLUSION: The diagnostic yield of genetic testing in this heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. We report the highest yield of diagnostic variants in the RASopathy genes identified in a laboratory cohort of HCM patients to date. The spectrum of genes implicated in this unselected cohort highlights the importance of pre-and post-test counseling when offering genetic testing to the broad HCM population.


Subject(s)
Cardiomyopathy, Hypertrophic/diagnosis , Genetic Testing , Genetic Variation , Adolescent , Adult , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/physiopathology , Child , Child, Preschool , Female , Genetic Markers , Genetic Predisposition to Disease , Humans , Infant , Male , Phenotype , Predictive Value of Tests , Retrospective Studies , Risk Assessment , Risk Factors , Young Adult
6.
PLoS One ; 16(2): e0245681, 2021.
Article in English | MEDLINE | ID: mdl-33534821

ABSTRACT

BACKGROUND: Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis. Recently, biallelic protein-truncating variants (PTVs) in the nebulin-related anchoring protein gene (NRAP) were identified in a few patients with sporadic DCM. METHODS AND RESULTS: We determined the frequency of rare NRAP variants in a cohort of DCM patients and control patients to further evaluate role of this gene in cardiomyopathies. A retrospective analysis of our internal variant database consisting of 31,639 individuals who underwent genetic testing (either panel or direct exome sequencing) was performed. The DCM group included 577 patients with either a confirmed or suspected DCM diagnosis. A control cohort of 31,062 individuals, including 25,912 individuals with non-cardiac (control group) and 5,150 with non-DCM cardiac indications (Non-DCM cardiac group). Biallelic (n = 6) or two (n = 5) NRAP variants (two PTVs or PTV+missense) were identified in 11 unrelated probands with DCM (1.9%) but none of the controls. None of the 11 probands had an alternative molecular diagnosis. Family member testing supports co-segregation. Biallelic or potentially biallelic NRAP variants were enriched in DCM vs. controls (OR 1052, p<0.0001). Based on the frequency of NRAP PTVs in the gnomAD reference population, and predicting full penetrance, biallelic NRAP variants could explain 0.25%-2.46% of all DCM cases. CONCLUSION: Loss-of-function in NRAP is a cause for autosomal recessive dilated cardiomyopathy, supporting its inclusion in comprehensive genetic testing.


Subject(s)
Cardiomyopathy, Dilated , Muscle Proteins/genetics , Adult , Cardiomyopathy, Dilated/diagnosis , Cardiomyopathy, Dilated/genetics , Child, Preschool , Female , Genetic Testing , Humans , Loss of Function Mutation , Male , Middle Aged , Retrospective Studies , Young Adult
7.
J Eat Disord ; 9(1): 11, 2021 Jan 14.
Article in English | MEDLINE | ID: mdl-33446274

ABSTRACT

BACKGROUND: The primary care setting offers an attractive opportunity for, not only the identification of pediatric eating disorders, but also the delivery of evidence-based treatment. However, constraints of this setting pose barriers for implementing treatment. For interventions to be successful, they need to take into consideration the perspectives of stakeholders. As such, the purpose of this study was to examine in-depth primary care providers' perspective of challenges to identifying and managing eating disorders in the primary care setting. METHODS: This mixed methods study surveyed 60 Pediatric and Family Medicine providers across 6 primary care practices. Sixteen of these providers were further interviewed using a qualitative, semi-structured interview. RESULTS: Providers (n = 60, response rate of 45%) acknowledged the potential of primary care as a point of contact for early identification and treatment of pediatric eating disorders. They also expressed that this was an area of need in their practices. They identified numerous barriers to successful implementation of evidence-based treatment in this setting including scarcity of time, knowledge, and resources. CONCLUSIONS: Investigations seeking to build capacities in primary care settings to address eating disorders must address these barriers.

8.
J Anxiety Disord ; 76: 102298, 2020 12.
Article in English | MEDLINE | ID: mdl-32937260

ABSTRACT

With exposure emerging as a key ingredient in anxiety treatment for childhood anxiety disorders (CADs), expansion of exposure techniques is a promising avenue for improving treatment efficacy. The present study examined use of imaginal exposure (IE), a technique understudied in the treatment of CADs. Specifically, the study tested whether two forms of exposure to worries (verbal IE and virtual reality exposure therapy, VRET) would be effective and acceptable forms of exposure with youth. Twenty youth with fears of academic failure completed both types of worry exposure, presented in randomized order. Regardless of order of presentation, both verbal IE and VRET elicited moderate anxiety that decreased to mild over the span of the exposures. Both were found to be acceptable by youth and neither was associated with negative side effects. Youth found VRET to be slightly more interesting and novel, but noted that verbal IE was more realistic and individualized. The present study supports the use of standalone worry exposure as an effective and acceptable treatment for general worries in youth and suggests VRET could be more effective with improved realism.


Subject(s)
Academic Performance , Virtual Reality Exposure Therapy , Virtual Reality , Adolescent , Anxiety/therapy , Anxiety Disorders/therapy , Child , Feasibility Studies , Humans
9.
J Cardiovasc Nurs ; 35(5): 445-455, 2020.
Article in English | MEDLINE | ID: mdl-32649374

ABSTRACT

BACKGROUND: People with a new diagnosis of atrial fibrillation (AF) require knowledge to build skills and confidence to engage in decision making for AF treatment and prevention of AF-related complications. Data to guide development of content and approaches that enable acquisition of knowledge to support effective self-management are lacking. OBJECTIVE: The aim of this study was to explore patients' values concerning the content of initial AF education, describe how providers delivered education, and identify patients' preferences for approaches to education. METHODS: We used a qualitative inductive approach. Twenty-five participants given a diagnosis of AF within 18 months of enrollment were recruited from midwest US healthcare system clinics. Data were collected using a semistructured interview guide and were analyzed using qualitative content analysis. RESULTS: Themes emerging were as follows: (1) important to know, (2) recollections of the how and what of education, and (3) preferences for educational resources. Participants highly valued providers' explanations that AF was not immediately life-threatening and did not require limitations to usual activities. This reassurance from providers decreased fear and then enabled participants to learn about AF management. Verbal explanations were the primary approach to delivering education, but participants consistently expressed preferences for receiving written information and videos to supplement verbal explanations. CONCLUSIONS: Addressing emotional and quality of life concerns at the time of AF diagnosis reduced fear and was critical for enabling participants to attend to discussions about treatment and self-management. The value participants placed on written and video resources as an adjunct to verbal explanation suggests that providers should consider educational approaches beyond verbal explanations.


Subject(s)
Atrial Fibrillation/diagnosis , Patient Education as Topic , Patient Preference , Adult , Aged , Aged, 80 and over , Female , Humans , Interviews as Topic , Male , Middle Aged , Quality of Life , Self-Management
10.
Europace ; 21(11): 1725-1732, 2019 Nov 01.
Article in English | MEDLINE | ID: mdl-31408100

ABSTRACT

AIMS: Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. METHODS AND RESULTS: Rare variants in CACNA1C were identified from genetic testing laboratories. Treating physicians provided clinical information. Variant pathogenicity was independently assessed according to recent guidelines. Pathogenic (P) and likely pathogenic (LP) variants were mapped onto a 3D modelled structure of the Cav1.2 protein. Nine P/LP variants, identified in 23 patients from 19 families with non-syndromic LQTS were identified. Six variants, found in 79% of families, clustered to a 4-residue section in the cytosolic II-III loop region which forms a region capable of binding STAC SH3 domains. Therefore, variants may affect binding of SH3-domain containing proteins. Arrhythmic events occurred in similar proportions of patients with II-III loop variants and with other P/LP variants (53% vs. 48%, P = 0.41) despite shorter QTc intervals (477 ± 31 ms vs. 515 ± 37 ms, P = 0.03). A history of sudden death was reported only in families with II-III loop variants (60% vs. 0%, P = 0.03). The predominant T-wave morphology was a late peaking T wave with a steep descending limb. Exercise testing demonstrated QTc prolongation on standing and at 4 min recovery after exercise. CONCLUSION: The majority of P/LP variants in patients with CACNA1C-mediated LQT8 cluster in an SH3-binding domain of the cytosolic II-III loop. This represents a 'mutation hotspot' in LQT8. A late-peaking T wave with a steep descending limb and QT prolongation on exercise are commonly seen.


Subject(s)
Calcium Channels, L-Type/genetics , DNA/genetics , Long QT Syndrome/genetics , Mutation, Missense , Calcium Channels, L-Type/metabolism , DNA Mutational Analysis , Electrocardiography/methods , Female , Follow-Up Studies , Genetic Testing/methods , Humans , Long QT Syndrome/metabolism , Long QT Syndrome/physiopathology , Male , Pedigree , Phenotype , Protein Binding , Retrospective Studies
11.
Eur J Hum Genet ; 27(7): 1134-1142, 2019 07.
Article in English | MEDLINE | ID: mdl-30903112

ABSTRACT

Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of patients with an inherited cardiac disease and a clinically significant variant reclassification was explored through semi-structured phone interviews. Participants were recruited from two specialized multidisciplinary centers in Canada and Australia. Qualitative analysis was performed through a thematic analysis approach. Fifteen participants were interviewed, including 9 (60%) with an inherited cardiomyopathy and 6 (40%) with an inherited arrhythmia syndrome. Six (40%) patients had a classification upgrade, while 9 (60%) had a downgrade. Four major themes emerged: (1) reactions towards the reclassified variant; (2) impact on decision-making; (3) perception of the reclassification process; and (4) improvement of the reclassification process. Many patients adjusted to the reclassification, however some misunderstood the implications, impacting their responses and decision-making. In conclusion, careful discussion with patients about uncertainty and the potential for reclassification are crucial to ensure a deeper understanding of the outcome of genetic testing and impact on families.


Subject(s)
Arrhythmias, Cardiac , Genetic Predisposition to Disease , Genetic Variation , Heart Defects, Congenital , Adult , Aged , Arrhythmias, Cardiac/classification , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/physiopathology , Australia , Canada , Female , Heart Defects, Congenital/classification , Heart Defects, Congenital/genetics , Heart Defects, Congenital/physiopathology , Humans , Male , Middle Aged , Syndrome
13.
Cogn Behav Pract ; 26(3): 478-491, 2019 Aug.
Article in English | MEDLINE | ID: mdl-33828399

ABSTRACT

In the current paper, we describe an integrated online- and mobile-based application for the treatment of childhood anxiety disorders, Anxiety Coach. The technology is designed to increase the use of exposure therapy by therapists and patients. We begin by outlining the clinical content and design of the application, and then review the clinical administration and theoretical basis for the program. Next, using results from an implementation feasibility study, we illustrate how data collected during application use can inform therapists, supervisors, and researchers about process variables (i.e., use of exposure) and outcomes (i.e., symptom improvement). Implications of the potential for Anxiety Coach to increase access to evidence-based treatment and directions for further research are discussed.

14.
Psychol Health Med ; 24(3): 320-332, 2019 03.
Article in English | MEDLINE | ID: mdl-30047802

ABSTRACT

This pilot study examined feasibility of an unsupervised, facility-based exercise programme for promoting exercise adherence among depressed adult outpatients. The potential effect of adding physical activity counselling on depressive symptoms and physical activity was also explored. Participants were randomly assigned to a 12-week programme comprising an orientation and access to fitness centre resources (control, n = 18) or that programme plus 6 physical activity counselling sessions (intervention, n = 18). Outcome measures were feasibility (fitness centre attendance over 12 weeks); Beck Depression Inventory (BDI-II) and International Physical Activity Questionnaire (IPAQ) completed at baseline and week 12; and qualitative programme feedback. Fitness centre attendance averaged only 12 days (14% of all possible days) with no differences between study groups. No group differences were found on IPAQ or BDI-II scores at week 12. Increases from baseline in IPAQ moderate/vigorous activity minutes were associated with decreases in BDI-II scores at week 12 (p < 0.001). The most helpful programme aspect reported was connecting participants to fitness centre resources. In this pilot study of depressed outpatients, an unsupervised fitness centre based program was not feasible for promoting exercise adherence and adding physical activity counselling was not useful for increasing physical activity levels or reducing depression.


Subject(s)
Depressive Disorder/therapy , Exercise Therapy/methods , Fitness Centers , Outcome and Process Assessment, Health Care , Outpatients , Program Evaluation , Adult , Feasibility Studies , Female , Humans , Male , Middle Aged , Pilot Projects
15.
J Patient Exp ; 5(4): 314-319, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30574554

ABSTRACT

BACKGROUND: Health and Wellness Coaching has been shown to enhance treatment outcomes in the primary care setting. However, little is known about the experience and perceptions of patients who worked with a wellness coach as an integrated member of their primary health-care team. OBJECTIVE: This project assessed patients' experience and obtained their perceptions on barriers and facilitators to participation in a primary care-based wellness coaching program. METHOD: A survey was mailed to 99 primary care patients with prediabetes who participated in a 12-week wellness coaching program. RESULTS: Sixty-two (63%) completed the survey; responders felt that participation in the wellness coaching program helped move them toward healthier lifestyle behavior and created a personal vision of wellness. Major themes associated with participation were supportive coaching relationship, increased self-accountability, increased goal-setting, and healthy behavior strategies. No significant barrier to participation was reported. CONCLUSION: Participants reported highly positive experience with the program; how to best integrate health and wellness coaching into the primary care setting needs to be explored.

16.
Europace ; 20(3): 541-547, 2018 03 01.
Article in English | MEDLINE | ID: mdl-28158428

ABSTRACT

Aims: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes. Methods and results: This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities. Conclusion: This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events.


Subject(s)
Calsequestrin/genetics , Mutation , Ryanodine Receptor Calcium Release Channel/genetics , Tachycardia, Ventricular/genetics , Adolescent , Child , DNA Mutational Analysis , Death, Sudden, Cardiac/epidemiology , Female , Genetic Markers , Genetic Predisposition to Disease , Heredity , Humans , Male , Models, Molecular , Pedigree , Phenotype , Prognosis , Protein Conformation , Registries , Retrospective Studies , Risk Factors , Ryanodine Receptor Calcium Release Channel/chemistry , Ryanodine Receptor Calcium Release Channel/metabolism , Structure-Activity Relationship , Tachycardia, Ventricular/diagnosis , Tachycardia, Ventricular/mortality , Tachycardia, Ventricular/physiopathology
17.
J Community Genet ; 9(3): 257-262, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29170972

ABSTRACT

The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey. Of 56 participants, most were physicians (68%) or genetic counselors (19%). Despite working collaboratively, most genetic counselors (59%) were either not satisfied or only somewhat satisfied with their relationships with physicians. Ninety percent of participants were involved in offering genetic evaluation, including 80% who felt that testing was usually/always accessible. Most offered genetic testing to confirm clinical diagnosis and/or direct family screening. Post-mortem genetic analysis was sought by 69% of respondents; however, a lack of retained tissue and/or poor tissue preparation hindered this process. Family screening was usually recommended in the setting of a pathogenic/likely pathogenic variant. The most commonly perceived barrier to genetic testing was cost to the healthcare system. More than a quarter of patients waited ≥ 6 months for funding. An ability to engage at-risk relatives was rated as limited/poor by 34% of participants. Despite the establishment of several interdisciplinary clinics, timely access to affordable testing, supported by strong team communication, continues to be a barrier to genetic testing in Canada.

18.
Health Expect ; 21(1): 110-117, 2018 02.
Article in English | MEDLINE | ID: mdl-28636280

ABSTRACT

BACKGROUND: Patients and clinicians do not often agree on whether a decision has been made about cancer care. This could be explained by factors related to communication quality and/or the type of decision being made. METHODS: We used a self-developed coding scheme to code a random sample of 128 encounters in which patients and clinicians either agreed (n=64) or disagreed (n=64) that a cancer care decision was made and tested for associations between concordance and key communication behaviours. We also identified and characterized cancer care decisions by topic and level of patient involvement and looked for trends. RESULTS: We identified 378 cancer care decisions across 128 encounters. Explicit decisions were most commonly made about topics wherein decision control could be easily delegated to a clear and present expert (eg either the patient or the clinician). Related to this, level of patient involvement varied significantly by decision topic. Explicit decisions were rarely made in an observable way about social, non-clinical or self-management related topics, although patients and clinicians both reported having made a cancer care decision in encounters where no decisions were observed. We found no association between communication behaviours and concordance in our sample. CONCLUSIONS: What counts as a "decision" in cancer care may be constructed within disparate social roles that leave many agendas unaddressed and decisions unmade. Changing the content of conversations to encourage explicit decisions about self-management and life context-related topics may have greater value in enabling shared understanding than promoting communication behaviours among already high-performing communicators.


Subject(s)
Decision Making , Medical Oncology , Patient Participation , Physician-Patient Relations , Female , Humans , Male , Middle Aged , Neoplasms/therapy
19.
Respir Care ; 62(11): 1403-1411, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29061910

ABSTRACT

BACKGROUND: We recently demonstrated in a randomized study the feasibility and effectiveness of telephone-based health coaching using motivational interviewing on decreasing hospital readmissions and improving quality of life at 6 and 12 months after hospital discharge. In this qualitative study, we sought to explore the health-coaching intervention as seen from the perspective of the participants who received the intervention and the coaches who delivered it. METHODS: Semistructured participant interviews (n = 24) and a focus group of all health coaches (n = 3) who participated in this study were conducted. Interviews and focus group were recorded and transcribed verbatim. Transcripts were analyzed using coding and categorizing techniques and thematic analysis. Mixed-method triangulation was used to merge quantitative and qualitative data. RESULTS: Content analysis revealed 4 predominant themes of the coaching intervention: health-coaching relationship, higher participant confidence and reassurance (most related to improvement in physical quality of life), improved health-care system access (most related to decreased hospital readmissions), and increased awareness of COPD symptoms (most related to improvement in emotional quality of life). The strongest theme was the relationship with the health coach, including coach style and motivational interviewing approach. Health coaches' focus group also noted the importance of the coaching relationship as the most significant theme. CONCLUSIONS: This study provided themes to further inform the delivery and implementation of health-coaching interventions in patients with COPD after hospital discharge. Health coaching forged partnerships and created a platform for patient engagement, which was confirmed by both participants and health coaches.


Subject(s)
Aftercare/psychology , Health Personnel/psychology , Mentoring/methods , Pulmonary Disease, Chronic Obstructive/psychology , Self Care/psychology , Aftercare/methods , Aged , Female , Focus Groups , Humans , Male , Middle Aged , Motivational Interviewing/methods , Patient Discharge , Patient Readmission/statistics & numerical data , Professional-Patient Relations , Pulmonary Disease, Chronic Obstructive/therapy , Qualitative Research , Quality of Life , Randomized Controlled Trials as Topic , Self Care/methods
20.
Soc Sci Med ; 174: 209-212, 2017 02.
Article in English | MEDLINE | ID: mdl-28040301

ABSTRACT

RATIONALE: The relationship between depressive symptoms and adverse outcomes for patients with cardiac problems has been well established for several decades. However, less is known about other factors that may influence psychosocial outcomes for cardiac patients. OBJECTIVE: To evaluate the association between baseline happiness and depressed mood on later psychosocial functioning among cardiac patients. METHOD: Participants (N = 250) were patients who had received medical treatment at an academic medical center for a cardiac event. Participants completed questionnaires at two time points: Approximately 2 weeks after they had been discharged from the hospital (baseline) and again 12 weeks later. Participants completed validated measures of depressed mood, happiness, health distress, expectations about health, and quality of life. RESULTS: Baseline depressed mood and happiness both significantly predicted health-related distress and depressive symptoms at follow up. Happiness ratings were associated with lower distress and depressed mood, whereas scores for depressive symptoms showed the opposite pattern. Happiness, but not depressed mood, was a significant predictor of more positive quality of life ratings. Conversely, only depressed mood was a significant predictor of less positive expectations about health. CONCLUSION: The results of this study suggest that investigating positive baseline affect in addition to depressed mood provides additional useful information that may help explain why some patients have more negative outcomes following cardiac events.


Subject(s)
Cardiovascular Diseases/psychology , Depression/etiology , Happiness , Quality of Life/psychology , Aged , Depression/complications , Female , Humans , Male , Middle Aged , Surveys and Questionnaires
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