Patients with polypharmacy suffer from complex medical conditions involving a large healthcare burden. This study aimed to describe the characteristics and utilization of primary care (PC) and hospital care (HC) and factors associated in chronic patients with polypharmacy, stratifying by adjusted morbidity groups (AMG) risk level, sex and age, and comparing with non-polypharmacy. Cross-sectional study conducted in a Spanish basic healthcare area. Studied patients were those over 18 years with chronic diseases identified by the AMG tool from Madrid electronic clinical record, which was the data source. Sociodemographic, sociofunctional, clinical and healthcare utilization variables were described and compared by risk level, sex, age and having or not polypharmacy. Factors associated with healthcare utilization in polypharmacy patients were determined by a negative binomial regression model. In the area studied, 61.3% patients had chronic diseases, of which 16.9% had polypharmacy vs. 83.1% without polypharmacy. Patients with polypharmacy (vs. non-polypharmacy) mean age was 82.7 (vs. 52.7), 68.9% (vs. 60.7%) were women, and 22.0% (vs. 1.2%) high risk. Their average number of chronic diseases was 4.8 (vs. 2.2), and 95.6% (vs. 56.9%) had multimorbidity. Their mean number of annual healthcare contacts was 30.3 (vs. 10.5), 25.9 (vs. 8.8) with PC and 4.4 (vs. 1.7) with HC. Factors associated with a greater PC utilization in patients with polypharmacy were elevated complexity, high risk level and dysrhythmia. Variables associated with a higher HC utilization were also increased complexity and high risk, in addition to male sex, being in palliative care, having a primary caregiver, suffering from neoplasia (specifically lymphoma or leukaemia) and arthritis, whereas older age and immobilization were negatively associated. Polypharmacy population compared to non-polypharmacy was characterized by a more advanced age, predominance of women, high-risk, complexity, numerous comorbidities, dependency and remarkable healthcare utilization. These findings could help healthcare policy makers to optimize the distribution of resources and professionals within PC and HC systems, aiming for the improvement of polypharmacy management and rational use of medicines while reducing costs attributed to healthcare utilization by these patients.

Pediatric patients with chronic conditions frequently have unmet care needs, make extensive use of healthcare services, and often encounter fragmented, non-centered care. This study aimed to analyze the differences in the utilization of primary care (PC) and hospital care (HC) services by these patients according to sex, age, and complexity and to identify associated factors. A cross-sectional study was conducted in a basic health area of Madrid, including patients under 18 years. Among these patients, 15.7% had ≥1 chronic disease, 54.1% were male, the average age was 9.5 years, 3.5% had complexity, and 11.3% had multimorbidity. The mean number of contacts/year with the healthcare system was 9.1, including 8.3 contacts/year with PC (4.9 with pediatricians and 1.9 with nurses) and 0.8 contacts/year with HC (0.8 in external consultations and 0.01 hospitalizations). The factors associated with PC utilization were complexity; female sex; European origin; and diseases like asthma, epilepsy, stroke, recurrent urinary infection, attention deficit hyperactivity disorder, and anxiety, while older age was negatively associated. Thyroid disorders were significantly associated with HC utilization. These findings could help guide the design of optimized pediatric patient-centered care approaches to coordinate care across healthcare services and reduce high healthcare utilization, therefore improving the healthcare outcomes and quality of life for these patients.

Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a moderate-risk breast cancer susceptibility gene. Taking advantage of next-generation sequencing techniques, and with the purpose of defining the whole spectrum of possible pathogenic variants (PVs) in this gene, here we have performed a comprehensive mutational analysis of BARD1 in a cohort of 1946 Spanish patients who fulfilled criteria to be tested for germline pathogenic mutations in BRCA1 and BRCA2. We identified 22 different rare germline variants, being 5 of them clearly pathogenic or likely pathogenic large deletions, which account for 0.26% of the patients tested. Our results show that the prevalence and spectrum of mutations in the BARD1 gene might vary between different regions of Spain and expose the relevance to test for copy number variations.

Full Papers; Authors: J. Barrio-Cortes, T. Gómez-Gascón, B. Benito-Sánchez, M.F. Domínguez-Berjón, M.D. Esteban-Vasallo, J.P. Chalco-Orrego, E.F. Vicente-Rabaneda, C. Baldini, C. Seghieri, A.V. Goules, D.I. Fotiadis, A.G. Tzioufas

The incidence of cancer in Europe has been increasing in recent years. Despite this, cancer prevention has remained a low priority in health policies. Cancer is one of the main causes of mortality among people experiencing homelessness, who continue to have difficulties accessing prevention programs. A strategy that has been tested to favor cancer prevention is the health navigator figure. The objective of CANCERLESSproject is to implement this model among populations experiencing homelessness in four European countries to foster the prevention and early detection of cancer. In this perspective, a presentation of CANCERLESS project is made, and its ethical aspects are discussed according to the ethics of public health, the ethics of care, solidarity, relational autonomy, and the social recognition of the virtue of just generosity. The ethical foundations of CANCERLESS project are rooted in social justice and in equity in access to health systems in general and cancer screening programs in particular. The ethics of public health guided by utilitarianism are insufficient in serving the interests of the most disadvantaged groups of the population. Hence, it is necessary to resort to relational bioethics that includes the ethics of care and solidarity and that recognizes the moral identity of socially excluded persons, reaffirming their position of equality in society. Relational autonomy therefore provides a broader conception by including the influence of living conditions in decisions. For this reason, the CANCERLESS project opts for a dialogue with those affected to incorporate their preferences and values into decisions about cancer ^prevention.

Patients with multimorbidity have increased and more complex healthcare needs, posing their management a challenge for healthcare systems. This study aimed to describe their primary healthcare utilization and associated factors. A population-based cross-sectional study was conducted in a Spanish basic healthcare area including all patients with chronic conditions, differentiating between having multimorbidity or not. Sociodemographic, functional, clinical and service utilization variables were analyzed, stratifying the multimorbid population by the Adjusted Morbidity Groups (AMG) risk level, sex and age. A total of 6036 patients had multimorbidity, 64.2% being low risk, 28.5% medium risk and 7.3% high risk. Their mean age was 64.1 years and 63.5% were women, having on average 3.5 chronic diseases, and 25.3% were polymedicated. Their mean primary care contacts/year was 14.9 (7.8 with family doctors and 4.4 with nurses). Factors associated with primary care utilization were age (B-coefficient [BC] = 1.15;95% Confidence Interval [CI] = 0.30–2.01), female sex (BC = 1.04; CI = 0.30–1.78), having a caregiver (BC = 8.70; CI = 6.72–10.69), complexity (B-coefficient = 0.46; CI = 0.38–0.55), high-risk (B-coefficient = 2.29; CI = 1.26–3.32), numerous chronic diseases (B-coefficient = 1.20; CI = 0.37–2.04) and polypharmacy (B-coefficient = 5.05; CI = 4.00–6.10). This study provides valuable data on the application of AMG in multimorbid patients, revealing their healthcare utilization and the need for a patient-centered approach by primary care professionals. These results could guide in improving coordination among professionals, optimizing multimorbidity management and reducing costs derived from their extensive healthcare utilization.