Well-differentiated papillary mesothelioma (WDPM) is a rare variant of epithelioid mesothelioma and is considered to be associated with good prognosis due to its clinically indolent behavior and long survival. Most reported cases involve the peritoneum of women at reproductive age with no history of exposure to asbestos, with pleural involvement being less common. The optimal management, including the role of chemotherapy in the treatment of WDPM, remains unsettled. The authors describe two cases of WDPM in women of the same family (siblings); the elder with WDPM of the pleura and peritoneum with a 12-year survival period and the younger with a WDPM of the peritoneum diagnosed in 2011 and uveal melanoma diagnosed in 2012. Neither patient had any known exposure to asbestos fibers or any other mineral carcinogens. After the concurrent diagnosis of WDPM and uveal melanoma, genetic diagnosis was carried out taking into consideration that these two malignancies were recently associated with hereditary BAP1 gene mutations and it was positive for both the patients. To our knowledge, this is the first description of WDPM in two siblings who also presented with a germline BAP1 mutation. This article provides evidence of the wide clinical spectrum of cancer susceptibility associated with a BAP1 germline mutation.

Background: The patient’s experience of treatment is a cornerstone of high-quality healthcare, along with clinical safety and effectiveness. We aimed to evaluate the patients’ perspectives regarding home mechanical ventilation (HMV) follow up in an outpatient setting and ascertain differences between patients that started HMV in the outpatient setting compared to other settings. Methods: This cross-sectional study was conducted with patients with chronic respiratory failure under HMV in the Outpatient Ventilation Clinic. Patients filled in a patient experience questionnaire and the S3-NIV questionnaire. Results: The study included 235 patients (127, 54% male), median 70 [25–75 percentiles 64–76] years) and about half were adapted to HMV in the outpatient setting (117, 49.8%). Patients had a daily ventilator usage of 8.0 [6.0–10.0] hours and have been on ventilator for a median of 35.0 [12.0–66.0] months. Patients reported an overall good experience regarding education at initiation (209 [88.9%] considered the information given was enough), short time to adaptation [104 (44.3%) felt adapted after some hours], with perceived benefits (171 [72.8%] reported less shortness of breath, 158 (67.2%) improved quality of life and 150 (63.8%) less tiredness). Benefits overcame the treatment side-effects (158 [67.2%] reported mucosal dryness, 109 (46.4%) mask sores and 96 (40.9%) leaks). There was no difference in terms of reported health gains, side effects or time to adaptation between adaptation settings, but patients starting HMV in the outpatient setting reported better communication and education at adaptation. Conclusions: Outpatient setting was perceived as a positive experience, both in HMV initiation and follow up, with good patient-physician communication leading to significant health reported gains, improvement of health status and well-being and good treatment adherence.

Background: With the increasing prevalence of patients on home mechanical ventilation (HMV), changing indications, shortage of hospital resources and rapidly evolving technology, there is an urgent need for evaluating the added value of telemedicine in initiation and follow-up of HMV. This European Respiratory Society (ERS) clinical practice guideline provides evidence-based recommendations on the use of telemedicine in HMV. Methods: The ERS Task Force consisted of 20 members, including a patient representative and her caregiver. The Task Force addressed five PICO (Population, Intervention, Comparison, Outcome) questions and three narrative questions. Systematic searches were performed in MEDLINE, Embase, Cochrane and CINAHL. Evidence was synthesised by conducting meta-analyses, when possible, or when not, narratively. Certainty of evidence was rated with GRADE (Grading of Recommendations Assessment, Development and Evaluation) guidance. The Evidence-to-Decision framework was used to decide on the direction and formulate strengths of recommendations. Results: The panel makes a conditional recommendation for the initiation of HMV with telemedicine in patients with neuromuscular diseases or restrictive thoracic diseases and in patients with COPD. No recommendation could be made for obesity hypoventilation syndrome. The panel conditionally recommends the use of telemedicine for the follow-up of patients on HMV, although could not make recommendations on parameters to be monitored. Suggestions were mainly based on theoretical benefits and patient preferences, as our confidence in the evidence was low. Conclusions: With these guidelines, clinical practice recommendations are provided for the use of telemedicine in HMV. Technological advances and the use of advanced data processing algorithms and artificial intelligence were identified as drivers for future research and telemedicine use.

Short, valid and easy to use tools are needed to monitor non-invasive ventilation in clinical practice and for organization of home mechanical ventilation services. The aim of this study was to develop a professional translation and cultural adaptation of the Portuguese S³ non-invasive ventilation questionnaire. 234 stable patients (128 male patients, 53.8%) with a mean age of 69.3 years under long-term home non-invasive ventilation were recruited from a single-center outpatient clinic. The most frequent diagnostic groups were obesity hypoventilation syndrome, chronic obstructive pulmonary disease and restrictive chest wall disorders. The Portuguese version of the questionnaire was obtained using translation back-translation process with two professional translators. Internal consistency for the total score was good (Cronbach's α coefficient of 0.76) as well as for the "respiratory symptoms" and the "sleep and side effects" domains (Cronbach's α coefficient=0.68 and Cronbach's α coefficient=0.72, respectively). An exploratory factor analysis was performed leading to an explained variance of 54.6%, and resulted in 3 components. The Portuguese version of the S3-NIV questionnaire is a simple and valid tool for the routine clinical assessment of patients receiving home NIV.

Advance care planning (ACP) is a complex and iterative communication process between patients, surrogates and clinicians that defines goals of care that may include, but is not limited to, documentation of advance directives. The aim of ACP is to promote patient-centred care tailored to the patient's clinical situation through informed preparation for the future and improved communication between patient, clinicians and surrogates, if the latter need to make decisions on patient's behalf.The aim of this article is to review research related to ACP in acute and chronic respiratory failure, regarding the process, communication, shared decision-making, implementation and outcomes.Research has produced controversial results on ACP interventions due to the heterogeneity of measures and outcomes, but positive outcomes have been described regarding the quality of patient–physician communication, preference for comfort care, decisional conflict and patient–caregiver congruence of preferences and improved documentation of ACP or advance directives.The main barriers to ACP in chronic respiratory failure are the uncertainty of prognosis (particularly in the organ failure trajectory), the choice of the best timing for initiation and the lack of training of healthcare workers. In acute respiratory failure, the ACP process can be very short, should include the patient whenever possible, and is based on a discussion of treatments appropriate to the patient's functional status prior to the event (e.g.assessment of frailty) and clear communication of the likely consequences of possible options.All healthcare worker dealing with patients with serious illnesses should have training in communication skills to promote engagement in ACP discussions.

The aim of this study was to develop and validate the professional translation and cultural adaptation of the Portuguese Severe Respiratory Insufficiency (SRI) Questionnaire. The sample was composed of 93 patients (50 male patients, 53.8%) with a mean age of 66.3 years. The most frequent diagnostic groups were chronic obstructive pulmonary disease, obesity hypoventilation syndrome and restrictive chest wall disorders. The patients were asked to fill in both the SRI and SF-36 questionnaires. Factor analysis of the SRI questionnaire was performed leading to an explained variance of 73%, and resulted in 13 components. When analyzing the reliability, we obtained values for Cronbach's alpha above 0.70 for most subscales with the reliability of the summary scale being even higher (0.84). This professional translation and cultural adaptation of the Portuguese SRI Questionnaire has good psychometric properties which are similar, not only to the original, but also to other translations. These characteristics make this questionnaire applicable to the Portuguese population receiving home mechanical ventilation for severe respiratory insufficiency.