scholarly journals Educational aspects of rare and orphan lung diseases

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tiago M. Alfaro ◽  
Marlies S. Wijsenbeek ◽  
Pippa Powell ◽  
Daiana Stolz ◽  
John R. Hurst ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Healthcare Professionals ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Reference Network ◽  
Delay In Diagnosis ◽  
Positive Effects ◽  
European Reference Network ◽  
Patient Representatives ◽  
Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

scholarly journals Rare Lung Diseases III: Pulmonary Langerhans’ Cell Histiocytosis

2010 ◽  
Vol 17 (3) ◽  
pp. e55-e62 ◽  
Author(s):  
Stephen C Juvet ◽  
David Hwang ◽  
Gregory P Downey
Keyword(s):  
Cell Biology ◽  
Langerhans Cell Histiocytosis ◽  
Lung Diseases ◽  
Treatment Options ◽  
Langerhans Cell ◽  
Major Theme ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Current Series ◽  
Pulmonary Manifestations ◽  
Rare Lung Diseases

Pulmonary Langerhans’ cell histiocytosis (PLCH) is an unusual cystic lung disease that is also characterized by extrapulmonary manifestations. The current review discusses the presenting features and relevant diagnostic testing and treatment options for PLCH in the context of a clinical case. While the focus of the present article is adult PLCH and its pulmonary manifestations, it is important for clinicians to distinguish the adult and pediatric forms of the disease, as well as to be alert for possible extrapulmonary complications. A major theme of the current series of articles on rare lung diseases has been the translation of insights gained from fundamental research to the clinic. Accordingly, the understanding of dendritic cell biology in this disease has led to important advances in the care of patients with PLCH.

Management of Esophageal Perforation: 28-Year Experience in a Major Referral Center

2018 ◽  
Vol 84 (5) ◽  
pp. 684-689 ◽  
Author(s):  
Ana Puertavicente ◽  
Pablo Priego JimÉNez ◽  
María Ángeles Cornejo López ◽  
Francisca GarcÍA-Moreno Nisa ◽  
Gloria RodrÍGuez Velasco ◽  
...  
Keyword(s):  
Esophageal Perforation ◽  
Severe Disease ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Mortality Rates ◽  
Endoscopic Management ◽  
High Morbidity ◽  
Septic Complications ◽  
Delay In Diagnosis ◽  
Individualized Approach

Esophageal perforation constitutes a surgical emergency. Despite its gravity, no single strategy has been described as sufficient to deal with most situations to date. The aim of this study was to assess the etiology, management, and outcome of esophageal perforation over a 28-year period, to characterize optimal treatment options in this severe disease. A retrospective clinical review of all patients treated for esophageal perforation at Ramón y Cajal Hospital between January 1987 and December 2015 was performed (n = 57). Iatrogenic injury was the most frequent cause of esophageal perforation (n = 32). Abdominal esophagus was the main location (23 patients; 40.4%). Eight patients (14%) were managed with antibiotics and parenteral nutrition. In seven patients (12.3%), an endoscopic stent was implanted. Surgical therapy was performed in 38 patients (66.7%). Morbidity and 90-day mortality rates were 61.4 and 28 per cent, respectively. Five patients were reoperated (8.8%). Median hospital stay was 23.5 days. The mortality rate was higher among patients with spontaneous and tumoral perforation (54.5 and 100%; P = 0.009), delayed diagnosis (>24 hours; P = 0.0001), and abdominal/thoracic location (37.5%; P = 0.05). No statistical differences were found between surgical and conservative/endoscopic management (31% vs 20%; P = 0.205) although hospital staying was longer in surgical group (36.30 days vs 15.63 days; P = 0.029). Esophageal perforation was associated with high morbidity and mortality rates. Global outcomes depend on etiology, site of perforation, and delay in diagnosis. An individualized approach for each patient should be chosen to prevent septic complications of this potentially fatal disease.

scholarly journals Introduction to Endo-ERN–scope and mission

Endocrine ◽  
2021 ◽  
Author(s):  
Alberto M. Pereira ◽  
Olaf Hiort
Keyword(s):  
Health Care ◽  
Health Care Providers ◽  
Governance Structure ◽  
Reference Network ◽  
Care Providers ◽  
European Reference Network ◽  
Raising Awareness ◽  
European Reference Networks ◽  
Patient Representatives ◽  
Low Prevalence

AbstractThe official installation of the European Reference Networks in 2017 formed the foundation to improve quality and safety and access to highly specialized health care across the EU for patients affected by rare or low prevalence and complex conditions. The European Reference Network on Rare Endocrine Conditions (Endo-ERN) covers specific expertise from birth to senescence with a specific governance structure characterized by both a pediatric and an adult chair, and equal responsibilities for patient representatives and health care providers. The introduction on the scope and mission of Endo describes the complexity of the Endo-ERN mission and will thrive toward the ultimate aim and mission of the network of reducing health care inequalities across Europe. Specific knowledge and medical expertise of the existing rare endocrine condition is urgently needed, and therefore, raising awareness for Rare Disease Day from the Endo-ERN perspective is imperative.

scholarly journals Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Annemarie E. M. Post ◽  
Thomas Klockgether ◽  
G. Bernhard Landwehrmeyer ◽  
Massimo Pandolfo ◽  
Astri Arnesen ◽  
...  
Keyword(s):  
Healthcare Professionals ◽  
Neurological Diseases ◽  
Research Priorities ◽  
Reference Network ◽  
Disease Mechanisms ◽  
Research Theme ◽  
Research Themes ◽  
Patient Representatives ◽  
The Impact

Abstract Background Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to prioritize five research themes for rare neurological diseases on a scale ranging from 1 (most important) to 5 (least important). A follow-up e-mail interview was conducted with patient representatives and professionals to assess potential reasons for differences in opinions between these two groups. Results In total, 156 responses were analysed: 61 from professionals and 95 from patient representatives. They covered all ERN-RND disease groups and came from 20 different EU countries. Almost half of the respondents considered ‘Developing therapies and preventive strategies’ the most important research theme. In particular, patient representatives prioritized this theme more often than professionals, while professionals prioritized ‘Disease mechanisms and models’. Patient representatives indicated that therapies and prevention were of the utmost importance to them, because their lives are often heavily impacted by the disease and their main goal is to relief the burden of disease. Professionals indicated that investigating disease mechanisms will lead to more knowledge and is indispensable for finding new treatments. Conclusions Patients and professionals have different opinions on which research theme should have priority. A qualitative follow-up shows that they respect each others’ view points. Different stakeholders involved in research should be aware of their differences in research theme priority. Explaining these differences to each other leads to more understanding, and could improve patient engagement in research. Graphical Abstract

scholarly journals Not Always Asthma: Clinical and Legal Consequences of Delayed Diagnosis of Laryngotracheal Stenosis

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Adam C. Nunn ◽  
S. Ali R. Nouraei ◽  
P. Jeremy George ◽  
Guri S. Sandhu ◽  
S. A. Reza Nouraei
Keyword(s):  
Respiratory Symptoms ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Delayed Diagnosis ◽  
Rare Condition ◽  
Laryngotracheal Stenosis ◽  
Delay In Diagnosis ◽  
Inflammatory Conditions ◽  
Proper Interpretation ◽  
Legal Consequences

Laryngotracheal stenosis (LTS) is a rare condition that occurs most commonly as a result of instrumentation of the airway but may also occur as a result of inflammatory conditions or idiopathically. Here, we present the case of a patient who developed LTS as a complication of granulomatosis with polyangiitis (GPA), which was misdiagnosed as asthma for 6 years. After an admission with respiratory symptoms that worsened to the extent that she required intubation, a previously well 14-year-old girl was diagnosed with GPA. Following immunosuppressive therapy, she made a good recovery and was discharged after 22 days. Over subsequent years, she developed dyspnoea and “wheeze” and a diagnosis of asthma was made. When she became pregnant, she was admitted to hospital with worsening respiratory symptoms, whereupon her “wheeze” was correctly identified as “stridor,” and subsequent investigations revealed a significant subglottic stenosis. The delay in diagnosis precluded the use of minimally invasive therapies, with the result that intermittent laser resection and open laryngotracheal reconstructive surgery were the only available treatment options. There were numerous points at which the correct diagnosis might have been made, either by proper interpretation of flow-volume loops or by calculation of the Empey or Expiratory Disproportion Indices from spirometry data.

scholarly journals Establishing and Boosting Communication in The European Reference Network For Rare Neurological Diseases (ERN-RND): The Impact of Offering Free Educational Webinars

2021 ◽  
Author(s):  
Alicia Brunelle-Praschberger ◽  
Annemarie E.M. Post ◽  
Sanja Hermanns ◽  
Holm Graessner
Keyword(s):  
Social Media ◽  
Healthcare Professionals ◽  
Neurological Diseases ◽  
Analytical Data ◽  
Communication Strategy ◽  
Reference Network ◽  
European Reference Network ◽  
Therapeutic Algorithms ◽  
The Impact ◽  
Tangible Product

Abstract Background: Since it first started operating in 2017, the European Reference Network for Rare Neurological Diseases (ERN-RND) implemented a multi-channel communication strategy to effectively reach its target audience: healthcare professionals, patients, researchers, industry representatives and the general public. It first created a website containing useful and up to date information followed by social media accounts. We compared the analytical data collected about the ERN-RND website and social media channels (Twitter, Facebook, YouTube) during two periods: October 2018 to September 2019 and the year after the ERN-RND free educational webinars were launched, from October 2019 to September 2020. This allowed us to quantify the impact of offering a tangible product (webinars) on the communication strategy. Results: The analytical data obtained from October 2018 to September 2019 and from October 2019 to September 2020 clearly shows a significant increase in traffic and followers since the launch of the ERN-RND webinars in November 2019. We also created a communication survey which was disseminated between February and June 2021. We collected responses from 61 people: 38 healthcare professionals, 11 scientists, 10 patients (advocates), 2 industry representatives, 1 patient association, 1 charity representative, 1 resident and 1 master student. Most respondents answered ”webinars” as the number one reason when asked about which content they look for on the ERN-RND website. Conclusions: Offering a tangible product - such as the webinars presented in this report - to a specific target group (healthcare professionals) supported our communication strategy by driving traffic to ERN-RND communication channels. It has also successfully tackled ERN-RND’s general aim: by enabling the flow of knowledge on rare neurological and movement disorders reach the medical community in hospitals treating patients with these rare and complex conditions, patients ultimately benefit from improved and faster diagnosis, care, and treatment. We aim to set up similar strategies to effectively reach other or the same target groups. For healthcare professionals, organising eConsultations via the Clinical Patient Management System (CPMS) or disseminating standards of care such as diagnostic and therapeutic algorithms as well as clinical practice guidelines might offer potential. For the patient community, organising customised and multilingual webinars could also work.

The Evolution of Physical Activity on Prescription (FaR) in Sweden

2014 ◽  
Vol 62 (2) ◽  
Keyword(s):  
Physical Activity ◽  
Primary Care ◽  
Healthcare Professionals ◽  
Systems Approach ◽  
Ecological Model ◽  
Controlled Trial ◽  
Professional Associations ◽  
Successful Implementation ◽  
Surgeon General ◽  
Positive Effects

In 1996, the first Report of the US Surgeon General on Physical Activity and Health provided an extensive knowledge overview about the positive effects of physical activity (PA) on several health outcomes and PA recommendations. This contributed to an enhanced interest for PA in Sweden. The Swedish Professional Associations for Physical Activity (YFA) were appointed to form a Scientific Expert Group in the project “Sweden on the Move” and YFA created the idea of Physical Activity on Prescription (FaR) and the production of a handbook (FYSS) for healthcare professionals. In Swedish primary care, licensed healthcare professionals, i.e. physicians, physiotherapists and nurses, can prescribe PA if they have sufficient knowledge about the patient’s current state of health, how PA can be used for promotion, prevention and treatment and are trained in patient-centred counselling and the FaR method. The prescription is followed individually or by visiting local FaR providers. These include sport associations, patient organisations, municipal facilities, commercial providers such as gyms, sports clubs and walking clubs or other organisations with FaR educated staff such as health promoters or personal trainers. In clinical practice, the FaR method increases the level of PA in primary care patients, at 6 and at 12 months. Self-reported adherence to the prescription was 65% at 6 months, similar to the known compliance for medications. In a randomised controlled trial, FaR significantly improved body composition and reduced metabolic risk factors. It is suggested that a successful implementation of PA in healthcare depends on a combination of a systems approach (socio-ecological model) and the strengthening of individual motivation and capability. General support from policymakers, healthcare leadership and professional associations is important. To lower barriers, tools for implementation and structures for delivery must be readily available. Examples include handbooks such as FYSS, the FaR system and the use of pedometers.

scholarly journals Younger age of onset and uveitis associated with HLA-B27 and delayed diagnosis in Thai patients with axial spondyloarthritis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Naphruet Limsakul ◽  
Praveena Chiowchanwisawakit ◽  
Parichart Permpikul ◽  
Yubolrat Thanaketpaisarn
Keyword(s):  
Regression Analysis ◽  
Multiple Regression Analysis ◽  
Axial Spondyloarthritis ◽  
Age At Onset ◽  
Delayed Diagnosis ◽  
Musculoskeletal Symptom ◽  
Hla B27 ◽  
Delay In Diagnosis ◽  
Factors Associated ◽  
Younger Age

AbstractTo identify characteristics associated with HLA-B27, and to identify factors associated with delayed diagnosis in Thai patients with axial spondyloarthritis (axSpA). This cross-sectional study included Thai patients were diagnosed with axSpA by a rheumatologist at Siriraj Hospital. Clinical data were collected. Regression analyses were employed to identify factors associated with study outcomes. Of total 177 patients, 127 (72%) were positive HLA-B27. Uveitis [Odds ratio (OR) 4.0], age at onset of the first musculoskeletal symptom of ≤ 28 years [OR 3.5], female [OR 0.4], and psoriasis [OR 0.4] were significantly associated with HLA-B27 in multiple regression analysis. Those with positive HLA-B27 had less spinal flexibility. Elevated C-reactive protein (p = 0.012) was associated with shorter delay in diagnosis, while uveitis (p < 0.001) and younger age at onset of the first symptom (p = 0.002) were associated with longer delay in diagnosis in multiple regression analysis. Younger age at onset of the first musculoskeletal symptom and uveitis were associated with HLA-B27 and delayed diagnosis in axSpA patients. Young people with musculoskeletal symptom and uveitis should be referred to a rheumatologist to rule out or make a timely diagnosis of axSpA.

scholarly journals How Did Italian Adolescents with Disability and Parents Deal with the COVID-19 Emergency?

2021 ◽  
Vol 18 (4) ◽  
pp. 1687
Author(s):  
Silvia Faccioli ◽  
Francesco Lombardi ◽  
Pierantonio Bellini ◽  
Stefania Costi ◽  
Silvia Sassi ◽  
...  
Keyword(s):  
Assistive Technology ◽  
Healthcare Professionals ◽  
Family Members ◽  
Anxiety Symptoms ◽  
Rehabilitation Services ◽  
Disabled Children ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Positive Effects ◽  
Italian Adolescents

The COVID-19 emergency has imposed distanced education and has interrupted most rehabilitation services. Adolescents with disabilities have been isolated, and the burden on their families has been exacerbated. A cross-sectional survey was administered to adolescents with disability and to parents of disabled children to describe their experience during lockdown and their concerns or expectations about rehabilitation. A sample of 53 adolescents and 239 parents completed the survey. Adolescents were ages 13–18 years old (45.3% female). Most parents were between 35 and 55 years old (84.9% female). While 53.6% of the parents reported no positive effects of the lockdown, 92.5% of the adolescents expressed favorable consequences. The increased time spent with family members was judged positively by 27.2% of parents and by 64.2% of adolescents. Concern for their child’s disability was expressed by 47.3% of parents, while 73.6% of adolescents expressed concerns regarding the ban on meeting friends. In both groups, anxiety symptoms were correlated with the fear of contracting COVID-19 and with financial problems. Parents would have liked even more remote support from school and healthcare professionals, which was available for most participants. Thus, socioeconomic support, assistive technology and telerehabilitation strategies might help families with disabilities during a lockdown.

scholarly journals The Supportive Care Needs of Cancer Patients: a Systematic Review

2021 ◽  
Author(s):  
Madeleine Evans Webb ◽  
Elizabeth Murray ◽  
Zane William Younger ◽  
Henry Goodfellow ◽  
Jamie Ross
Keyword(s):  
Cancer Patients ◽  
Healthcare Professionals ◽  
Treatment Options ◽  
Complex Nature ◽  
Narrative Synthesis ◽  
Care Needs ◽  
Wide Range ◽  
Need Support ◽  
Lack Of Control ◽  
Everyday Work

AbstractCancer, and the complex nature of treatment, has a profound impact on lives of patients and their families. Subsequently, cancer patients have a wide range of needs. This study aims to identify and synthesise cancer patients’ views about areas where they need support throughout their care. A systematic  search of the literature from PsycInfo, Embase and Medline databases was conducted, and a narrative. Synthesis of results was carried out using the Corbin & Strauss “3 lines of work” framework. For each line of work, a group of key common needs were identified. For illness-work, the key needs idenitified were; understanding their illness and treatment options, knowing what to expect, communication with healthcare professionals, and staying well. In regards to everyday work, patients wanted to maintain a sense of normalcy and look after their loved ones. For biographical work, patients commonly struggled with the emotion impact of illness and a lack of control over their lives. Spiritual, sexual and financial problems were less universal. For some types of support, demographic factors influenced the level of need reported. While all patients are unique, there are a clear set of issues that are common to a majority of cancer journeys. To improve care, these needs should be prioritised by healthcare practitioners.

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