Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy.

In arrhythmogenic cardiomyopathy (ACM) pathogenic variants are found in genes encoding desmosomal proteins and in non-desmosomal genes, such as phospholamban (PLN, p.Arg14del variant). Previous research showed that plakoglobin protein levels and localization in the cardiac tissue of ACM patients, and PLN p.Arg14del patients diagnosed with an ACM phenotype, are disturbed. Moreover, the effects of pathogenic variants in desmosomal genes are reflected in non-cardiac tissues like buccal mucosa cells (BMC) which could serve as a promising new and non-invasive tool to support diagnosis. We collected the BMC of 33 ACM patients, 17 PLN p.Arg14del patients and 34 controls, labelled the BMC with anti-plakoglobin antibodies at different concentrations, and scored their membrane labelling. We found that plakoglobin protein levels were significantly reduced in BMC obtained from diagnosed ACM patients and preclinical variant carriers when compared to controls. This effect was independent from age and sex. Moderate to strong correlations were found with the revised 2010 Task Force Criteria score which is commonly used for ACM diagnosis (rs = -0.67, n = 64, p < 0.0001 and rs = -0.71, n = 64, p < 0.0001). In contrast, plakoglobin scores in PLN p.Arg14del patients were comparable to controls (p > 0.209), which suggests differences in underlying etiology. However, for the individual diagnosis of the 'classical' ACM patient, this method might not be discriminative enough to distinguish true patients from variant carriers and controls, because of the high interindividual variability.

Cross-sectional research conducted in the Netherlands to identify relationships among the actual level of patient-centred care, the care gap (ideal vs actual care delivery) and satisfaction with care.

OBJECTIVE: This study aimed to identify relationships among the actual level of patient-centred care (PCC), the care gap (ideal level of PCC vs actual care delivery) and satisfaction with care. DESIGN: This study was a cross-sectional survey. SETTING: This study was conducted at two locations of a Dutch hospital (Nieuwegein and Leidsche Rijn Utrecht). PARTICIPANTS: Patients visiting the outpatient clinics for heart failure, chronic obstructive pulmonary disease (COPD) and cancer in March-May 2017 were asked to fill in a questionnaire. Inclusion criteria were diagnosis with COPD, heart failure or cancer and clinic visitation for a regular appointment. A total of 186 patients filled in the questionnaire. PRIMARY AND SECONDARY OUTCOME MEASURES: Outcomes evaluated were the actual level of PCC, the care gap and satisfaction with care. RESULTS: About half (45%) of the respondents were female, 38% had low educational levels and 31% were single. Respondents' mean age was 67.83 ± 10.02 (range, 16-94) years. Patients' experiences with actual care delivery and their conceptualisation of the ideal type of care differed significantly, representing care gaps, in all PCC dimensions. After controlling for background characteristics, patients' experiences with actual delivery and the care gap were related significantly to patients' satisfaction with care (ß = 0.17 and ß = - 0.41, respectively). CONCLUSIONS: Patients' experiences with the actual level of PCC and the care gap are important for patients' satisfaction with care.