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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.

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]

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]

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]

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. [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]

The article presents the paper "The Case for Plain Language," by staff in the Section of Patient Education at Mayo Foundation for Medical Education and Research, Rochester, Minnesota.

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]