Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients

Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe, in patients with diarrhea, vomiting or a prolonged QT interval on standard electrocardiography, in patients on drug management with compounds prolonging the electrocardiographic QT interval (including antiarrhythmic agents, some antihistamines, macrolides, antifungals, psychotropics, ß2-adrenergic agonists or cisapride), following acute alcohol abuse and during exercise. Cardiac arrhythmias and rhabdomyolysis occur with sufficient frequency in hypokalemic salt-losing tubulopathies to merit wider awareness of their presence and the preparation of specific prevention and management recommendation

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband-Provider and Proband-Family Communication in Hereditary Breast and Ovarian Cancer.

Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands' perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the "communication chain", confirming the difficulties of proband-mediated communication. Provider-proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands' decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands' involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

Background : Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management. Objective : Cascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current cancer and mutation status, cancer surveillance practices, needs for coordination of medical care, barriers and facilitators to using cancer genetic services, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (3) explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and relatives. Methods: CASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages. Results: Descriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases with their relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Focus group data will be transcribed verbatim and analyzed for common themes. Conclusions: Robust evidence from basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for genetic predisposition to HBOC and LS. CASCADE is designed to address translation of this knowledge into public health interventions. Trial Registration: ClinicalTrials.gov NCT03124212; https://clinicaltrials.gov/ct2/show/NCT03124212 (Archived by WebCite at http://www.webcitation.org/6tKZnNDBt

Factors Associated With COVID-19 Non-Vaccination in Switzerland: A Nationwide Study

Objectives: We compared socio-demographic characteristics, health-related variables, vaccination-related beliefs and attitudes, vaccination acceptance, and personality traits of individuals who vaccinated against COVID-19 and who did not vaccinate by December 2021.Methods: This cross-sectional study used data of 10,642 adult participants from the Corona Immunitas eCohort, an age-stratified random sample of the population of several cantons in Switzerland. We used multivariable logistic regression models to explore associations of vaccination status with socio-demographic, health, and behavioral factors.Results: Non-vaccinated individuals represented 12.4% of the sample. Compared to vaccinated individuals, non-vaccinated individuals were more likely to be younger, healthier, employed, have lower income, not worried about their health, have previously tested positive for SARS-CoV-2 infection, express lower vaccination acceptance, and/or report higher conscientiousness. Among non-vaccinated individuals, 19.9% and 21.3% had low confidence in the safety and effectiveness of SARS-CoV-2 vaccine, respectively. However, 29.1% and 26.7% of individuals with concerns about vaccine effectiveness and side effects at baseline, respectively vaccinated during the study period.Conclusion: In addition to known socio-demographic and health-related factors, non-vaccination was associated with concerns regarding vaccine safety and effectiveness

Des données aux indices

This paper will look reflexively and retrospectively back on the discovery procedures in qualitative data analysis. Originating from a study on the management of genetic risk of breast/ovarian cancer from women with a predisposition to the disease, examples of analysis will be identified and explained as well as the reasoning that guides discovery. Five processes will be highlighted: the surprising observation, the adoption of a general principle of meaning, the formulation of hypotheses, the development of new questions in order to seek new clues, and the formulation of plausible statements. These processes are not sequential, but intermingled in a typically abductive way

Droits, devoirs et dilemmes des femmes à risque génétique de cancer

Depuis une quinzaine d’années, des tests permettent de vérifier la prédisposition génétique au cancer chez les individus en bonne santé. En cas de résultat positif, ceux-ci se voient octroyer un statut particulier et énigmatique, à mi-chemin entre la santé et la maladie : le statut de personne à risque génétique. Cet article vise à décrire la manière dont les femmes à risque génétique de cancer du sein et de l’ovaire déchiffrent les droits et les devoirs rattachés à leur statut. Sur la base de récits de vie recueillis en Suisse auprès de trente-deux femmes asymptomatiques qui savent porter la prédisposition génétique depuis au moins trois ans, l’article montre que décoder les prescriptions normatives associées au statut à risque génétique est un processus complexe. Au fil du temps, les femmes découvrent que ce statut s’accompagne d’une injonction forte à la gestion médicale du risque. En même temps, elles réalisent que cette injonction est sans cesse remise en question. Cette tension entre l’injonction à la gestion médicale du risque et sa remise en question est source de désorientation et oblige les femmes à s’engager pour construire elles-mêmes leur propre projet de santé.For the last fifteen years, genetic tests have been available to asymptomatic individuals for identifying cancer predisposition due to gene mutations. In case of adverse results, these individuals receive a specific and enigmatic health status, which is in-between health and illness : the genetically at-risk status. This paper aims to describe how women, who are genetically at-risk for breast and ovarian cancer, decipher rights and duties linked to their health status. This study is based on biographical interviews conducted in Switzerland with thirty-two asymptomatic women who have been aware of their gene mutation for at least three years. Results show that decoding the normative prescriptions linked to the genetically at-risk status is a complex process. Over time, women discover that they are strongly required to manage their risk by following a set of medical recommendations. In the same time, this prescription is continuously put into question. Caught between contradictory messages, at-risk women feel disoriented and are forced to activate themselves in order to build their own health project

Coping with chronic lower back pain: designing and testing the online tool ONESELF

A website was designed in order to help patients with chronic lower back pain (cLBP) to cope with their condition, relying on the concept of health literacy. A sample of 748 chronic or potentially chronic LBP patients were asked to regularly visit the site for a period of 12 months. The intervention was evaluated quantitatively (both preuse and postuse surveys, logfiles) and qualitatively. Users appear to have taken less painkillers than before in the period they accessed the site. Most users reported that the site contributed to increasing their knowledge, and helped them managing their back pain. Communication with doctors, family, and colleagues improved. Qualitative evaluation showed several positive effects including self-comprehension, improvement of argumentative abilities, orientation, and self-confidence