Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

Background: Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication) study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer. Methods and design: The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1) lifetime risk in numerical format (natural frequencies, i.e. X out of 100), 2) lifetime risk in both numerical format and graphical format (population figures), 3) lifetime risk and age-related risk in numerical format, 4) lifetime risk and age-related risk in both numerical format and graphical format, and 5) lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care). Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands. Discussion: The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services. Trial registration: Current Controlled Trials ISRCTNI4566836

Herbaceous plant species invading natural areas tend to have stronger adaptive root foraging than other naturalized species

Although plastic root-foraging responses are thought to be adaptive, as they may optimize nutrient capture of plants, this has rarely been tested. We investigated whether nutrient-foraging responses are adaptive, and whether they pre-adapt alien species to become natural-area invaders. We grew 12 pairs of congeneric species (i.e., 24 species) native to Europe in heterogeneous and homogeneous nutrient environments, and compared their foraging responses and performance. One species in each pair is a USA natural-area invader, and the other one is not. Within species, individuals with strong foraging responses, measured as plasticity in root diameter and specific root length, had a higher biomass. Among species, the ones with strong foraging responses, measured as plasticity in root length and root biomass, had a higher biomass. Our results therefore suggest that root foraging is an adaptive trait. Invasive species showed significantly stronger root-foraging responses than non-invasive species when measured as root diameter. Biomass accumulation was decreased in the heterogeneous vs. the homogeneous environment. In aboveground, but not belowground and total biomass, this decrease was smaller in invasive than in non-invasive species. Our results show that strong plastic root-foraging responses are adaptive, and suggest that it might aid in pre-adapting species to becoming natural-area invaders

Scope of treatment and clinical-decision making in the older patient with COVID-19 infection, a European perspective

Purpose: Older patients were particularly vulnerable to severe COVID-19 disease resulting in high in-hospital mortality rates during the two first waves. The aims of this study were to better characterize the management of older people presenting with COVID-19 in European hospitals and to identify national guidelines on hospital admission and ICU admission for this population. Methods: Online survey based on a vignette of a frail older patient with Covid-19 distributed by e-mail to all members of the European Geriatric Medicine Society. The survey contained questions regarding the treatment of the vignette patient as well as general questions regarding available services. Additionally, questions on national policies and differences between the first and second wave of the pandemic were asked. Results: Survey of 282 respondents from 28 different countries was analyzed. Responses on treatment of the patient in the vignette were similar from respondents across the 28 countries. 247 respondents (87%) would admit the patient to the hospital, in most cases to a geriatric COVID-19 ward (78%). Cardiopulmonary resuscitation was found medically inappropriate by 85% of respondents, intubation and mechanical ventilation by 91% of respondents, admission to the ICU by 82%, and ExtraCorpular Membrane Oxygenation (ECMO) by 93%. Sixty percent of respondents indicated they would consult with a palliative care specialist, 56% would seek the help of a spiritual counsellor. National guidelines on admission criteria of geriatric patients to the hospital existed in 22 different European countries. Conclusion: This pandemic has fostered the collaboration between geriatricians and palliative care specialists to improve the care for older patients with a severe disease and often an uncertain prognosis

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

Abstract Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify, mostly asymptomatic, mothers with primary carnitine deficiency. To identify mothers’ needs and areas for improving screening practice, this study explored the experiences with, and opinions on primary carnitine deficiency screening in NBS among women diagnosed through NBS of their newborn. Methods Twelve Dutch women were interviewed, 3–11 years after diagnosis. Data were analysed using a thematic approach. Results Four main themes were derived: 1) psychological impact of primary carnitine deficiency diagnosis, 2) becoming a patient and “patient-in-waiting”, 3) information issues and care provision, and 4) primary carnitine deficiency as part of the NBS panel. Mothers shared that they did not experience major psychological distress of the diagnosis. They did experience (recall) various emotions following the initial abnormal NBS result, including fear and anxiety as well as relief, and emotions regarding their own diagnosis, including uncertainty about health risks and treatment effectiveness. Some felt a patient-in-waiting. Many participants experienced a lack of information, especially shortly after receiving the abnormal NBS result. All shared the belief that screening for primary carnitine deficiency in NBS is beneficial for the newborn, and, given the information they received, also considered the knowledge beneficial for their own health. Conclusions Psychological burden following diagnosis was experienced by women as limited, although the experienced lack of information amplified feelings of uncertainty and anxiety. Most mothers believed that benefits of knowing about primary carnitine deficiency outweighed the disadvantages. Mothers’ perspectives should be incorporated in policy-making about primary carnitine deficiency in NBS

Cardiopulmonary Morbidity in Adults Born With Congenital Diaphragmatic Hernia

OBJECTIVES: Studies concerning cardiopulmonary outcomes of adults born with congenital diaphragmatic hernia (CDH) are sparse. Moreover, they don't include participants who have been treated with extracorporeal membrane oxygenation (ECMO) during the neonatal period. This study evaluated the cardiopulmonary morbidities in young adults born with CDH.METHODS: We assessed 68 participants between the ages of 18 and 30 years. The assessment included auxology assessment, lung function tests, pulmonary imaging, cardiopulmonary exercise testing, and echocardiography.RESULTS: Lung function parameters in the overall group were significantly worse than normal values. Mean (SD) scores postbronchodilator forced expiratory volume in 1 second were -2.91 (1.38) in the ECMO-treated and -1.20 (1.53) in the non-ECMO-treated participants. Chest computed tomography scans showed mild to moderate abnormal lung structure in all ECMO-treated participants, and to a lesser extent in non-ECMO treated participants. A recurrent diaphragmatic defect was observed in 77% of the ECMO-treated group and in 43% of the non-ECMO-treated group. Except for 2 cases with acute symptoms, no clinical problems were noted in cases of recurrence. Cardiopulmonary exercise testing revealed mean (SD) percentage predicted peak oxygen consumption per kilogram of 73 (14)% and 88 (16)% in ECMO-treated and non-ECMO-treated participants, respectively. The mean (SD) workload was normal in the non-ECMO-treated group (111 [25]% predicted); in the ECMO-treated group, it was 89 (23)%. Cardiac evaluation at rest revealed no signs of pulmonary hypertension.CONCLUSIONS: In young adults who survived treatment of CDH, significant pulmonary morbidity, reduced exercise capacity, and frequent hernia recurrence should be anticipated. Lifelong follow-up care, with the emphasis on prevention of further decline, is to be recommended.</p