BACKGROUND: Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician\'s perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches.
METHODS: Thirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or \'triggers\' that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use.
RESULTS: Participants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use.
CONCLUSIONS: To our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease.

Multigene panels can analyze high and moderate/intermediate penetrance genes that predispose to breast cancer (BC), providing an opportunity to identify at-risk individuals within affected families. However, considering the complexity of different pathogenic variants and correlated clinical manifestations, a multidisciplinary team is needed to effectively manage BC. A classification of pathogenic variants included in multigene panels was presented in this narrative review to evaluate their clinical utility in BC. Clinical management was discussed for each category and focused on BC, including available evidence regarding the multidisciplinary and integrated management of patients with BC. The integration of both genetic testing and counseling is required for customized decisions in therapeutic strategies and preventative initiatives, as well as for a defined multidisciplinary approach, considering the continuous evolution of guidelines and research in the field.

Lung cancer has the highest incidence and cancer-related mortality worldwide. In Portugal, it ranks as the fourth most common cancer, with nearly 6000 new cases being diagnosed every year. Lung cancer is the main cause of cancer-related death among males and the third cause of cancer-related death in females. Despite the globally accepted guidelines and recommendations for what would be the ideal path for a lung cancer patient, several challenges occur in real clinical management across the world. The recommendations emphasize the importance of adequate screening of high-risk individuals, a precise tumour biopsy, and an accurate final diagnosis to confirm the neoplastic nature of the nodule. A detailed histological classification of the lung tumour type and a comprehensive molecular characterization are of utmost importance for the selection of an efficacious and patient-directed therapeutic approach. However, in the context of the Portuguese clinical organization and the national healthcare system, there are still several gaps in the ideal pathway for a lung cancer patient, involving aspects ranging from the absence of a national lung cancer screening programme through difficulties in histological diagnosis and molecular characterization to challenges in therapeutic approaches. In this manuscript, we address the most relevant weaknesses, presenting several proposals for potential solutions to improve the management of lung cancer patients, helping to decisively improve their overall survival and quality of life.

Delayed initiation of effective antifibrotic therapy in patients with interstitial lung diseases (ILD) may influence the progression and outcome of the disease. This study analyzes the differences in the journey of patients with ILD in the Brazilian and Mexican health systems. An evaluative study was conducted in reference centers for interstitial lung diseases in Brazil and Mexico with a panel of four specialists. The patient\'s journey in both countries begins when the patient seeks medical care after observing a chronic respiratory symptom. In both countries, due to diagnostic complexity, these patients arrive at ILD referral centers at an advanced stage of the disease. Once diagnosis is established, the treatment onset differs between Mexico and Brazil. In Brazil, access to antifibrotic drugs through the public health system has been a significant challenge, and their cost makes them unaffordable for most people. This situation forces medical specialists to provide only supportive care to patients until these drugs can be accessed. In Mexico, antifibrotics have been available in health sectors since 2018. Brazil and Mexico have several similarities regarding the initial journey of the patient due to diagnosis difficulties. Still, the outcome tends to be different due to a difference in access to treatment with antifibrotics. For this reason, advancing health policies that ensure proper treatment for patients with ILD is crucial for the sustainability and reliability of the health system.

BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated urticaria. The characteristics of the disease have a considerable impact on the quality of life of patients. The aim of this study was to increase understanding of the patient journey of HAE in Spain.
METHODS: A multidisciplinary committee of 16 HAE experts (allergy, immunology, emergency department, hospital pharmacy and nursing) and 3 representatives of the Spanish Hereditary Angioedema Patient Association (AEDAF) who were patients or caregivers participated in the study. A review of the publications on HAE treatment was performed. Semi-structured interviews were performed to HAE experts, patients, or caregivers. Three meetings with the experts, patients and caregivers were held to share, discuss, and validate data obtained from literature and interviews and to build the model.
RESULTS: Throughout the project, the patient journey has been drawn up, dividing it into the stages of pre-diagnosis, diagnosis and treatment/follow-up. Some areas for improvement have been identified. Firstly, there is a need to enhance awareness and training on HAE among healthcare professionals, with a particular emphasis on primary care and emergency department personnel. Secondly, efforts should be made to minimize patient referral times to allergy/immunology specialists, ensuring timely access to appropriate care. Thirdly, it is crucial to encourage the study of the relatives of diagnosed patients to early identify potential cases. Fourthly, equitable access to self-administered treatments should be ensured, facilitated by systems that enable medication delivery at home and proper education and training for patients. Equitable access to long-term prophylactic treatment should also be prioritized for all patients in need. To standardize HAE management, the development of consensus guidelines that reduce variability in clinical practice is essential. Lastly, promoting research studies to enhance knowledge of the disease and align its treatment with new developments in the healthcare field should be encouraged.
CONCLUSIONS: The knowledge of the patient journey in HAE allowed us to identify improvement areas with the final aim to optimize the disease management.

The digital health progress hubs pilot the extensibility of the concepts and solutions of the Medical Informatics Initiative to improve regional healthcare and research. The six funded projects address different diseases, areas in regional healthcare, and methods of cross-institutional data linking and use. Despite the diversity of the scenarios and regional conditions, the technical, regulatory, and organizational challenges and barriers that the progress hubs encounter in the actual implementation of the solutions are often similar. This results in some common approaches to solutions, but also in political demands that go beyond the Health Data Utilization Act, which is considered a welcome improvement by the progress hubs.In this article, we present the digital progress hubs and discuss achievements, challenges, and approaches to solutions that enable the shared use of data from university hospitals and non-academic institutions in the healthcare system and can make a sustainable contribution to improving medical care and research.
UNASSIGNED: Die digitalen Fortschrittshubs Gesundheit pilotieren die Erweiterbarkeit der Konzepte und Lösungen der Medizininformatik-Initiative für eine Verbesserung der regionalen Gesundheitsversorgung und -forschung. Die 6 geförderten Projekte adressieren dabei unterschiedliche Erkrankungen, Stationen in der regionalen Gesundheitsversorgung und Methoden der institutionsübergreifenden Datenverknüpfung und -nutzung. Trotz der Verschiedenheit der Szenarien und regionalen Voraussetzungen sind die technischen, regulativen und organisatorischen Herausforderungen und Hürden, auf die die Fortschrittshubs bei der konkreten Implementierung der Lösungen treffen, oft ähnlich. Daraus ergeben sich teilweise gemeinsame Lösungsansätze, teilweise aber auch Forderungen an die Politik, die über das aus Sicht der Fortschrittshubs begrüßenswerte Gesundheitsdatennutzungsgesetz hinausgehen.In diesem Beitrag stellen wir die digitalen Fortschrittshubs vor und diskutieren Erreichtes, Herausforderungen und Lösungsansätze, die eine gemeinsame Nutzung von Daten aus den Universitätskliniken und den nichtakademischen Institutionen des Gesundheitssystems ermöglichen und auch nachhaltig zu einer Verbesserung von medizinischer Versorgung und Forschung beitragen können.

Data curation for a hospital-based cancer registry heavily relies on the labor-intensive manual abstraction process by cancer registrars to identify cancer-related information from free-text electronic health records. To streamline this process, a natural language processing system incorporating a hybrid of deep learning-based and rule-based approaches for identifying lung cancer registry-related concepts, along with a symbolic expert system that generates registry coding based on weighted rules, was developed. The system is integrated with the hospital information system at a medical center to provide cancer registrars with a patient journey visualization platform. The embedded system offers a comprehensive view of patient reports annotated with significant registry concepts to facilitate the manual coding process and elevate overall quality. Extensive evaluations, including comparisons with state-of-the-art methods, were conducted using a lung cancer dataset comprising 1428 patients from the medical center. The experimental results illustrate the effectiveness of the developed system, consistently achieving F1-scores of 0.85 and 1.00 across 30 coding items. Registrar feedback highlights the system\'s reliability as a tool for assisting and auditing the abstraction. By presenting key registry items along the timeline of a patient\'s reports with accurate code predictions, the system improves the quality of registrar outcomes and reduces the labor resources and time required for data abstraction. Our study highlights advancements in cancer registry coding practices, demonstrating that the proposed hybrid weighted neural-symbolic cancer registry system is reliable and efficient for assisting cancer registrars in the coding workflow and contributing to clinical outcomes.

BACKGROUND: For most acute conditions, the phase prior to emergency department (ED) arrival is largely unexplored. However, this prehospital phase has proven an important part of the acute care chain (ACC) for specific time-sensitive conditions, such as stroke and myocardial infarction. For patients with undifferentiated complaints, exploration of the prehospital phase of the ACC may also offer a window of opportunity for improvement of care. This study aims to explore the ACC of ED patients with undifferentiated complaints, with specific emphasis on time in ACC and patient experience.
METHODS: This Dutch prospective observational study, included all adult (≥ 18 years) ED patients with undifferentiated complaints over a 4-week period. We investigated the patients\' journey through the ACC, focusing on time in ACC and patient experience. Additionally, a multivariable linear regression analysis was employed to identify factors independently associated with time in ACC.
RESULTS: Among the 286 ED patients with undifferentiated complaints, the median symptom duration prior to ED visit was 6 days (IQR 2-10), during which 58.6% of patients had contact with a healthcare provider before referral. General Practitioners (GPs) referred 80.4% of the patients, with the predominant patient journey (51.7%) involving GP referral followed by self-transportation to the ED. The median time in ACC was 5.5 (IQR 4.0-8.4) hours of which 40% was spent before the ED visit. GP referral and referral to pulmonology were associated with a longer time in ACC, while referral during evenings was associated with a shorter time in ACC. Patients scored both quality and duration of the provided care an 8/10.
CONCLUSIONS: Dutch ED patients with undifferentiated complaints consulted a healthcare provider in over half of the cases before their ED visit. The median time in ACC is 5.5 h of which 40% is spent in the prehospital phase. Those referred by a GP and to pulmonology had a longer, and those in the evening a shorter time in ACC. The acute care journey starts hours before patients arrive at the ED and 6 days of complaints precede this journey. This timeframe could serve as a window of opportunity to optimise care.

UNASSIGNED: The Patient Journey Project aimed to analyze the scenario among Italian Mental Health Services (MHS) to understand the clinical interventions that are properly implemented and the ones deserving further implementation to design an effective treatment plan for patients living with schizophrenia (PLWS).
UNASSIGNED: The 60-items survey was co-designed with all the stakeholders (clinicians, expert patients and caregivers) involved in the Patient Journey and focused on three phases of schizophrenia course: early detection and management, acute phase management, long-term management/continuity of care. Respondents were Heads of the Mental Health Departments and Addiction Services (MHDAS) or facilities directors throughout Italian MHS. For each statement, respondents expressed the consensus on the importance and the degree of implementation in clinical practice.
UNASSIGNED: Considering the importance of the statement, strong consensus was reached for most of the statements. Good levels of implementation were found on 2/17 statements of early detection and management, on 3/16 statements for acute phase management and on 1/27 statements of long-term management/continuity of care. Poor levels of implementation were found on 1/17 statements of early detection and management, none of acute phase management, and 4/27 statements for long-term management/continuity of care. Moderate levels of implementation were found on 14/17 statements for early detection and management, on 13/16 statements of acute phase management, and on 22/27 statements of long-term management/continuity of care. Thus, among Italian MHDAS, most interventions for PLWS were moderately implemented in clinical practice.
UNASSIGNED: Italian MHS have to provide new strategies and structural actions to overcome these current limitations and barriers to effectively improve the journey of PLWS. The areas that deserve most implementation include interventions during the early stage (especially the continuity of care between Child and Adolescent Mental Health Services and Adult Mental Health Services), the evidence-based psychosocial interventions during the chronic stages of the disorder, and the continuity of care after acute hospitalization.

Background: Personal perspectives of patients are seldomly reported in the literature, most notably their journey to diagnosis. Literature is heavily focused on the patient journey from a healthcare professional\'s point of view during the treatment process. The objective of this study is to conduct a qualitative study on a video-sharing site, YouTube, to determine if the patient journey from a subjective perspective is truly linear for those who suffer from ulcerative colitis. Methods: Phrases searched on YouTube included \"ulcerative colitis story\" and \"ulcerative colitis diagnosis story\". Video monologues chronicling the patient journey before diagnoses were transcribed using the YouTube transcription function to identify patterns amongst users\' experiences. Thematic analysis was used to identify whether certain themes were present in the monologues. Analysis was performed using NVivo 12 QRS International and used line-by-line coding to create an initial codebook that represented the concepts covered in the monologues. Results: We viewed a total of 48 videos and included 29 videos from 2010 to 2020 for qualitative analysis. Overall, three major themes were identified in the patient journey prior to ulcerative colitis diagnosis:1) initial symptoms, 2) initial encounter with the healthcare system, and 3) gastroenterologist referral. Conclusions: The literature depicts the patient journey as a linear path. This qualitative study discovers that the reality of the patient journey is, in fact, non-linear. Many creators did not identify pharmacists in their patient journey; however, we know from the literature that pharmacists are the most accessible healthcare professional. With the appropriate tools, pharmacists can help guide patients in prioritizing signs and symptoms to streamline the non-linear path that patients experience.