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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The article offers information on the Lexigene as an online medical genetics translation tool to facilitate communication. Topics discussed Lexigene is an online lexicon which provides the translation of terms related to medical genetics, and more specifically, to the profession of genetic counseling; and describes how a team of genetic counselors (GCs) created Lexigene to improve the communication of genetic information to patients in languages other than English.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Patients' perceptions of inconclusive results have been previously investigated in cancer genetics. The differences in how patients recall and interpret an uninformative test result compared to a known pathogenic result can affect medical decisions post disclosure. However, there is little to no data available on patients' interpretation and perception of uninformative genetic results in inherited heart disease. We report the results of a qualitative analysis of 16 telephone interviews with participants who received a negative or a variant of unknown significance (VUS) result from Long QT syndrome (LQTS) genetic testing. Our results suggest that the type of result (negative versus VUS) does not affect recall, regardless of the reason for testing. When receiving a negative result, a majority of participants appropriately perceived no change in their diagnosis, while the perception of risk for family members varied. The majority of participants felt they maintained an awareness of their condition after the result disclosure, and that clinical follow-up was similar to that planned prior to the genetic test result. Further work is needed to determine if there are any differences between obtaining a VUS result versus a negative result in this population. [ABSTRACT FROM AUTHOR]

Background: Obesity is a leading preventable cause of death and disability and is associated with a lower health-related quality of life. We evaluated the impact of telecoaching conducted by a counselor trained in motivational interviewing paired with a portion control plate for obese patients in a primary care setting. Methods: We conducted a randomized, clinical trial among patients in a primary care practice in the midwestern United States. Patients were randomized to either usual care or an intervention including telecoaching with a portion control plate. The intervention was provided during a 3-month period with follow-up of all patients through 6 months after randomization. The primary outcomes were weight, body mass index (BMI),waist circumference, and waist to hip ratio measured at baseline, 6, 12, 18, and 24 weeks. Secondary outcomes included measures assessing eating behaviors, self-efficacy, and physical activity at baseline and at 12 and 24 weeks. Results: A total of 1,101 subjects were pre-screened, and 90 were randomly assigned to telecoaching plus portion control plate (n = 45) or usual care (n = 45). Using last-value carried forward without adjustment for baseline demographics, significant reductions in BMI (estimated treatment effect -0.4 kg/m2, P = .038) and waist to hip ratio (estimated treatment effect -.02, P = .037) at 3 months were observed in the telecoaching plus portion control plate group compared to usual care. These differences were not statistically significant at 6 months. In females, the telecoaching plus portion control plate intervention was associated with significant reductions in weight and BMI at both 3 months (estimated treatment effect -1.6 kg, P = .016 and -0.6 kg/m2, P = .020) and 6 months (estimated treatment effect -2.3 kg, P = .013 and -0.8 kg/m2, P = .025). In males, the telecoaching plus portion control intervention was associated with a significant reduction in waist to hip ratio at 3 months (estimated treatment effect -0.04, P = .017), but failed to show a significant difference in weight and BMI. Conclusion: Telecoaching with a portion control plate can produce positive change in body habitus among obese primary care patients; however, changes depend upon sex. [ABSTRACT FROM AUTHOR]

Objective: To determine the attitudes and beliefs of both parents and surgical clinicians regarding interventions to reduce secondhand smoke (SHS) exposure in children undergoing surgery. Methods: Structured interviews were conducted with 25 parents of children scheduled for elective procedures and 10 surgical clinicians. Results: Major themes identified in parent interviews included: (1) parents are receptive to learning about the surgical risks posed by SHS exposure; (2) many are already attempting to reduce SHS exposure, and; (3) parents are more accepting of SHS mitigation procedure than a recommendation to quit smoking. Clinicians were receptive to addressing perioperative SHS exposure. Conclusions: Both parents and clinicians are receptive to clinician-delivered interventions to reduce the SHS exposure of children scheduled for elective surgery. [ABSTRACT FROM AUTHOR]

Objective. Although chronic pain is prevalent among American Indian (AI) populations, the use of traditional healing practices has not been widely investigated. The aim of this qualitative study was to solicit information from adult AIs with chronic pain regarding use of traditional health practices (THPs) for chronic pain and pain reduction. Design. Prospective qualitative design. Setting. The Min No Aya Win Human Services Center, Fond du Lac Band Reservation in Cloquet, MN, and the Center for American Indian Resources, Duluth, MN. Patients. The cohort included 21 (10 women and 11 men) AI patients with chronic pain. Intervention. A semi-structured interview guide was developed, and audiotaped interviews were conducted with all patients. Outcome Measure. Audiotaped interviews were transcribed, and thematic analysis strategies were used to identify core concepts and categories for coding interview data. A qualitative software analysis program was used to facilitate data coding. Results. A range of THP were described including smudging (burning sage), sweat lodge (ceremonial sauna), sema (ceremonial tobacco), feasting (strengthening process), pipes (ceremonial herb and tobacco), storytelling (nonhierarchical environment for verbal communication), and contact with a traditional healer (elder spiritual leader). The majority of individuals from the Reservation described prior exposure to THP; however, the majority of urban individuals reported limited exposure. Although the majority of individuals endorsed inclusion of THP in ambulatory-based pain treatment programs, recommendations for inclusion of specific practices were not systematically identified. Conclusions. The findings of this qualitative study suggest AIs from this tribal community utilize THP, but which specific THPs should be included in an ambulatory-based pain treatment program will require further research. [ABSTRACT FROM AUTHOR]

Introduction: Depressive symptoms negatively impact smoking abstinence. However, few interventions have been targeted to smokers with current depression. Exercise improves mood and may benefit depressed smokers. This pilot study investigated the feasibility of an exercise intervention for depressed female smokers (Center for Epidemiological Studies Depression Scale [CES-D] score ≥16). [ABSTRACT FROM PUBLISHER]

Medication safety is a special concern for the 30% to 40% of dementia patients who live alone at the time of diagnosis, and it plays an important part in relocation decisions. Televideo monitoring could improve medication self-administration accuracy and improve mood for persons with mild dementia who live alone or spend a significant amount of their day alone. The authors used 2-way interactive video technology to monitor medication compliance of 8 persons with mild dementia. They conducted more than 4000 contacts with these persons and found adequate technical outcome in 82% of calls. End medication compliance was 81% in the video-monitored group compared to 66% in the controls (P < .05). Comparison of compliance from initial to end ratings revealed that video-monitored participants' compliance remained stable while unmonitored patients' compliance fell 12 percentage points, consistent with expectations for dementia. This difference was also significant. Quantitative and qualitative outcome data from this project are presented. [ABSTRACT FROM AUTHOR]

Abstract: A variety of obstacles can prevent persons or individuals with low vision from deriving the greatest possible benefit from the rehabilitation process, including inadequate understanding of their visual impairment, lack of knowledge about available services, and misconceptions about low vision devices. This study explores the use of a patient-education consultation to enable patients and their families to take better advantage of low vision services. [ABSTRACT FROM AUTHOR]

Two experiments investigated the ability to use olfactory cues in maze-learning tasks following cadmium exposure. In Experiment 1, two groups of rats-one exposed to a cadmium-saccharin solution, one exposed just to saccharin-received double-alternation, reward(R)-nonreward(N) runway training. When only olfactory cues could be used as discriminative stimuli (Phase 1), just the saccharin-exposed animals were capable of mastering the Rrnnrrnn pattern. When a tactile discriminative stimulus was added (Phase 2), both groups of animals displayed appropriate patterned responding. Removal of the tactile cue (Phase 3) resulted in the immediate disruption of patterned responding in the cadmium-exposed animals. In Experiment 2, when a peppermint odor was used as a discriminative stimulus for T-maze performance, cadmium-exposed animals were incapable of learning the discrimination. However, when a light served as the discriminative stimulus, cadmium-exposed subjects performed as well as control subjects. These results point to potential olfactory deficits resulting from cadmium ingestion. [ABSTRACT FROM AUTHOR]

The article discusses research on the development of a computer-based education tool (CBET) which may be utilized during clinical visits of patients to a breast cancer specialist. Aside from animated videos, the CBET reportedly features graphics and written content that offer information on breast anatomy, tumor staging, and breast surgery options. It also explores feasibility and efficiency of CBET, the need to increase patient knowledge, and the preferred learning style of patients.

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. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the opinions of patients and clinicians on computer-based education concerning breast cancer during a consultation to a specialist.

Background: Obesity is a leading preventable cause of death and disability and is associated with a lower health-related quality of life. We evaluated the impact of telecoaching conducted by a counselor trained in motivational interviewing paired with a portion control plate for obese patients in a primary care setting.Methods: We conducted a randomized, clinical trial among patients in a primary care practice in the midwestern United States. Patients were randomized to either usual care or an intervention including telecoaching with a portion control plate. The intervention was provided during a 3-month period with follow-up of all patients through 6 months after randomization. The primary outcomes were weight, body mass index (BMI),waist circumference, and waist to hip ratio measured at baseline, 6, 12, 18, and 24 weeks. Secondary outcomes included measures assessing eating behaviors, self-efficacy, and physical activity at baseline and at 12 and 24 weeks.Results: A total of 1,101 subjects were pre-screened, and 90 were randomly assigned to telecoaching plus portion control plate (n = 45) or usual care (n = 45). Using last-value carried forward without adjustment for baseline demographics, significant reductions in BMI (estimated treatment effect -0.4 kg/m(2), P = .038) and waist to hip ratio (estimated treatment effect -.02, P = .037) at 3 months were observed in the telecoaching plus portion control plate group compared to usual care. These differences were not statistically significant at 6 months. In females, the telecoaching plus portion control plate intervention was associated with significant reductions in weight and BMI at both 3 months (estimated treatment effect -1.6 kg, P = .016 and -0.6 kg/m(2), P = .020) and 6 months (estimated treatment effect -2.3 kg, P = .013 and -0.8 kg/m(2), P = .025). In males, the telecoaching plus portion control intervention was associated with a significant reduction in waist to hip ratio at 3 months (estimated treatment effect -0.04, P = .017), but failed to show a significant difference in weight and BMI.Conclusion: Telecoaching with a portion control plate can produce positive change in body habitus among obese primary care patients; however, changes depend upon sex.Trial Registration: ClinicalTrials.gov NCT02373878, 13 February 2015. https://clinicaltrials.gov/ct2/show/NCT02373878. [ABSTRACT FROM AUTHOR]