Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

Objectives: Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice. Design and setting: The project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project's website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project's steering committee. Participants: Twenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian. Results: The analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants' future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present. Conclusion: The project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement

Narrative Medicine to integrate patients’, caregivers’ and clinicians’ migraine experiences: the DRONE multicentre project

Background: Although migraine is widespread and disabling, stigmatisation and poor awareness of the condition still represent barriers to effective care; furthermore, research on migraine individual and social impact must be enhanced to unveil neglected issues, such as caregiving burden. The project investigated the migraine illness experience through Narrative Medicine (NM) to understand daily life, needs and personal resources of migraneurs, their caregivers and clinicians, and to provide insights for clinical practice. Methods: The project involved 13 Italian headache centres and targeted migraneurs, their caregivers and migraine specialists at these centres. Written narratives, composed by a sociodemographic survey and illness plot or parallel chart, were collected through the project’s webpage. Illness plots and parallel charts employed open words to encourage participants’ expression. Narratives were analysed through Nvivo software, interpretive coding and NM classifications. Results: One hundred and seven narratives were collected from patients and 26 from caregivers, as well as 45 parallel charts from clinicians. The analysis revealed migraine perception in social, domestic and work life within the care pathway evolution and a bond between chaos narratives and day loss due to migraine; furthermore, narratives suggested the extent of the caregiving burden and a risk of underestimation of migraine burden in patients’ and caregivers’ life. Conclusion: The project represents the first investigation on migraine illness experience through NM simultaneously considering migraneurs’, caregivers’ and clinicians’ perspectives. Comparing narratives and parallel charts allowed to obtain suggestions for clinical practice, while NM emerged as able to foster the pursuing of migraine knowledge and awareness

Ruolo attuale dell’imaging cardiaco nella diagnosi di endocardite infettiva [Role of cardiac imaging in the diagnosis of infective endocarditis]

L’endocardite infettiva è una malattia di riscontro sempre più frequente in ambito ospedaliero. Anche se le linee guida della Società Europea di Cardiologia del 2015 trattano in maniera estensiva molti aspetti dell’endocardite infettiva, vi sono problematiche relative alla diagnosi e in particolare all’uso appropriato delle metodiche di imaging cardiaco che richiedono un ulteriore approfondimento. L’obiettivo di questa rassegna è analizzare vantaggi e limiti delle metodiche di imaging ecocardiografiche, radiologiche e nucleari al fine di identificare percorsi diagnostici applicabili nella pratica clinica.Infective endocarditis is an increasingly common disease in the hospital setting. Although the 2015 guidelines of the European Society of Cardiology deal extensively with many aspects of infective endocarditis, there are still unsolved problems related to diagnosis, in particular to the appropriate use of cardiac imaging methods, that require further study. The aim of this review is to analyze the advantages and limitations of the echocardiographic, radiological and nuclear imaging methods in order to identify diagnostic pathways applicable in clinical practice

Ruolo attuale dell'ecocardiografia nei pazienti con fibrillazione atriale [Current role of echocardiography in patients with atrial fibrillation]

Atrial fibrillation is the most common arrhythmia encountered in clinical practice. Cardiologists are often called upon to manage atrial fibrillation both in the acute urgent setting for the presence of hemodynamic compromise and electively for rhythm and/or heart rate control as well as for anti-remodeling strategies. In all these cases echocardiography is generally used. In particular, different echocardiographic techniques (transthoracic, transesophageal) and modalities (two-dimensional, three-dimensional, speckle tracking) can be indicated depending on the stage of the arrhythmia management and the need for cardioversion or interventional procedures. The purpose of this review is to clarify the current role of echocardiography, including specific techniques and modalities, in the managing process of atrial fibrillation

Ruolo attuale dell’ecocardiografia nei pazienti con embolia polmonare [Current role of echocardiography in patients with pulmonary disease]

Pulmonary embolism is a major health problem. Clinical presentation may vary from cardiovascular emergency with high mortality risk to mild or atypical illness, and the diagnosis is not always easy. However, the timeliness of diagnosis and prognostic stratification are crucial because immediate treatment and thromboembolic prophylaxis are highly effective. Echocardiography can play a key role in pulmonary embolism regarding different aspects: diagnosis, risk stratification, and follow-up but sometimes it is not properly used. Therefore, it is important for a physician to know exactly how to utilize echocardiography in pulmonary embolism. The purpose of this paper is to review the role of echocardiography as part of the diagnosis, management and follow-up of acute pulmonary embolism in the light of current literature

Care pathway of rpe65-related inherited retinal disorders from early symptoms to genetic counseling: A multicenter narrative medicine project in italy

Purpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals. Patients and Methods: This project was conducted between July and December 2020, invol¬ving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. In-depth interviews were conducted with Patient Association (PA) members and multi¬disciplinary healthcare professionals. All data were entered into the Nvivo Software for coding and analysis. Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled; 11 retinologists globally wrote 27 parallel charts; in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Well-organized networks to support the patient’s referral to specialized centers - as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach - emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway. Conclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. The analysis explored the patient’s pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs

Cardiac resynchronization therapy guided by multimodality cardiac imaging

Aims: Up to 30\u201345% of implanted patients are non-responders to CRT. We evaluated the role of a \u2018CRT team\u2019 using cardiac magnetic resonance (CMR) and longitudinal myocardial strain to identify the target area defined as the most delayed and viable region for LV pacing. Methods and results: A total of 100 heart failure patients candidates for CRT divided into two groups were enrolled. Group 1 consisted of 50 consecutive patients scheduled for CRT and prospectively included. Group 2 (control) consisted of 50 patients with a CRT device implanted according to standard clinical practice and matched for age, sex, and LVEF with group 1. Patients were evaluated at baseline and at 6-month follow-up. In group 1, patients underwent two-dimensional speckle-tracking assessment of longitudinal myocardial strain and CMR imaging to identify the target area for LV lead pacing. A positive response to CRT was defined as a reduction of 6515% of the LV end-systolic volume at 6-month follow-up. A total of 39 (78%) patients of group 1 were classified as responders to CRT whilst in group 2, only 28 (56%) were responders (P = 0.019). The \u2018CRT team\u2019 identified as target for LV pacing the lateral area in 30 (60%) patients, and the anterolateral or posterolateral areas in 12 (24%) patients. In 8 (16%) patients, the target was far from the lateral area, in the anterior or posterior areas. The patients with concordant position exhibited the highest positive response (93.1%) to CRT. Conclusions: Multimodality cardiac imaging as a guide for CRT implantation is useful to increase response rate

Narrative medicine to investigate the quality of life and emotional impact of inherited retinal disorders through the perspectives of patients, caregivers and clinicians: an Italian multicentre project

Objectives Although inherited retinal disorders (IRDs) related to the gene encoding the retinal pigment epithelium 65kD protein (RPE65) significantly impact the vision-related quality of life (VRQoL), their emotional and social aspects remain poorly investigated in Italy. Narrative Medicine (NM) reveals the more intimate aspects of the illness experience, providing insights into clinical practice. Design and setting This NM project was conducted in Italy between July and December 2020 and involved five eye clinics specialised in IRDs. Illness plots and parallel charts, together with a sociodemographic survey, were collected through the project's website; remote in-depth interviews were also conducted. Narratives and interviews were analysed through NVivo software and interpretive coding. Participants 3 paediatric and 5 adult patients and eight caregivers participated in the project; 11 retinologists globally wrote 27 parallel charts; 5 professionals from hospital-based multidisciplinary teams and one patient association member were interviewed. Results Findings confirmed that RPE65-related IRDs impact VRQoL in terms of activities and mobility limitations. The emotional aspects emerged as crucial in the clinical encounter and as informative on IRD management challenges and real-life experiences, while psychological support was addressed as critical from clinical diagnosis throughout the care pathway for both patients and caregivers; the need for an IRDs 'culture' emerged to acknowledge these conditions, and therefore, promoting diversity within society. Conclusions The project was the first effort to investigate the impact of RPE65-related IRDs on the illness experience through NM, concomitantly addressing the perspectives of paediatric and adult patients, caregivers and healthcare professionals and provided preliminary insights for the knowledge of RPE65-related IRDs and the clinical practice