scholarly journals Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

2021 ◽  
Vol 8 ◽  
Author(s):  
Karolina M. Stepien ◽  
Beata Kieć-Wilk ◽  
Christina Lampe ◽  
Trine Tangeraas ◽  
Graziella Cefalo ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Healthcare Providers ◽  
Transition Process ◽  
Pediatric Care ◽  
Reference Network ◽  
Emergency Plan ◽  
Process Data ◽  
Successful Transition ◽  
European Reference Network ◽  
Key Aspects

Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. This has created a new challenge: as they grow up, the care of IMD patients' needs to be transferred from metabolic pediatricians to metabolic physicians specialized in treating adults, through a process called “transition.” The purpose of this study was to assess how this transition is managed in Europe: a survey was sent to all 77 centers of the European Reference Network for Hereditary Metabolic Disorders (MetabERN) to collect information and to identify unmet needs regarding the transition process. Data was collected from 63/77 (81%) healthcare providers (HCPs) from 20 EU countries. Responders were mostly metabolic pediatricians; of these, only ~40% have received appropriate training in health issues of adolescent metabolic patients. In most centers (~67%) there is no designated transition coordinator. About 50% of centers provide a written individualized transition protocol, which is standardized in just ~20% of cases. In 77% of centers, pediatricians share a medical summary, transition letter and emergency plan with the adult team and the patient. According to our responders, 11% of patients remain under pediatric care throughout their life. The main challenges identified by HCPs in managing transition are lack of time and shortage of adult metabolic physician positions, while the implementations that are most required for a successful transition include: medical staff dedicated to transition, a transition coordinator, and specific metabolic training for adult physicians. Our study shows that the transition process of IMD patients in Europe is far from standardized and in most cases is inadequate or non-existent. A transition coordinator to facilitate collaboration between the pediatric and adult healthcare teams should be central to any transition program. Standardized operating procedures, together with adequate financial resources and specific training for adult physicians focused on IMDs are the key aspects that must be improved in the rare metabolic field to establish successful transition processes in Europe.

scholarly journals The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
C. Lampe ◽  
◽  
C. Dionisi-Vici ◽  
C. M. Bellettato ◽  
L. Paneghetti ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Healthcare Providers ◽  
Relevant Information ◽  
European Population ◽  
Reference Network ◽  
Long Term Effects ◽  
European Reference Network ◽  
Hereditary Metabolic Diseases ◽  
Hospital To Home ◽  
The Impact

AbstractThe ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs). To perform a preliminary assessment of the incidence of COVID-19 in IMD patients and the impact of the coronavirus emergency on the rare metabolic community between March and April 2020, the European Reference Network for Hereditary Metabolic Diseases (MetabERN) has performed two surveys: one directed to patients’ organizations (PO) and one directed to healthcare providers (HCPs). The COVID-19 incidence in the population of rare metabolic patients was lower than that of the general European population (72.9 × 100,000 vs. 117 × 100,000). However, patients experienced extensive disruption of care, with the majority of appointments and treatments cancelled, reduced, or postponed. Almost all HCPs (90%) were able to substitute face-to-face visits with telemedicine, about half of patients facing treatment changes switched from hospital to home therapy, and a quarter reported difficulties in getting their medicines. During the first weeks of emergency, when patients and families lacked relevant information, most HCPs contacted their patients to provide them with support and information. Since IMD patients require constant follow-up and treatment adjustments to control their disease and avoid degradation of their condition, the results of our surveys are relevant for national health systems in order to ensure appropriate care for IMD patients. They highlight strong links in an interconnected community of HCPs and PO, who are able to work quickly and effectively together to support and protect fragile persons during crisis. However, additional studies are needed to better appreciate the actual impact of COVID-19 on IMD patients’ health and the mid- and long-term effects of the pandemic on their wellbeing.

scholarly journals U-IMD: The first Unified European registry for Inherited Metabolic Diseases

2021 ◽  
Author(s):  
Thomas Opladen ◽  
Florian Gleich ◽  
Viktor Kozich ◽  
Maurizio Scarpa ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Patient Registry ◽  
Reference Network ◽  
Data Set ◽  
Common Data Elements ◽  
Inherited Metabolic Diseases ◽  
European Reference Network ◽  
Collect Patient Data ◽  
Data Elements ◽  
European Registry

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results : In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

scholarly journals U-IMD: the first Unified European registry for inherited metabolic diseases

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Thomas Opladen ◽  
Florian Gleich ◽  
Viktor Kozich ◽  
Maurizio Scarpa ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Patient Registry ◽  
Reference Network ◽  
Data Set ◽  
Common Data Elements ◽  
Inherited Metabolic Diseases ◽  
European Reference Network ◽  
Collect Patient Data ◽  
Data Elements ◽  
European Registry

Abstract Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

scholarly journals U-IMD: The First Unified European Registry for Inherited Metabolic Diseases

2020 ◽  
Author(s):  
Thomas Opladen ◽  
Florian Gleich ◽  
Viktor Kozich ◽  
Maurizio Scarpa ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Patient Registry ◽  
Reference Network ◽  
Data Set ◽  
Common Data Elements ◽  
Inherited Metabolic Diseases ◽  
European Reference Network ◽  
Collect Patient Data ◽  
Data Elements ◽  
European Registry

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results: In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered.Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

Recommendations for a New Generation of Standards for Testing Numerical Assessment of Blast-Loaded Glass Windows

2017 ◽  
Vol 755 ◽  
pp. 121-130 ◽  
Author(s):  
Martin Larcher ◽  
Michel Arrigoni ◽  
Chiara Bedon ◽  
Ans van Doormaal ◽  
Christof Haberacker ◽  
...  
Keyword(s):  
Finite Element ◽  
Critical Infrastructure ◽  
Experimental Testing ◽  
Experimental Investigations ◽  
Reference Network ◽  
Test Procedures ◽  
European Reference Network ◽  
Key Aspects ◽  
Guidelines And Recommendations ◽  
New Generation

The determination of the blast protection level of civil engineering buildings components against explosive effects represents a design topic of crucial importance, in current practice. However, some key aspects of blast resistant structures design have been only marginally considered in the last decade, and currently still require appropriate regulations. This is especially true in the case of glass windows and facades, where the intrinsic material brittleness is the major influencing parameter for blast-resistant assemblies. While blast assessment of buildings and systems is usually achieved by means of experimental investigations, as well as Finite-Element numerical simulations, general regulations and guidelines are currently missing. In this regard, the European Reference Network for Critical Infrastructure Protection - Task Group (ERNCIP-TG) “Resistance of Structures to Explosion Effects” attempts to develop guidelines and recommendations aimed to harmonise test procedures in experimental testing of glass windows under blast, as well as standardized approaches for their vulnerability assessment via Finite Element numerical modelling. In this paper, major ERNCIP-TG outcomes and next challenges are briefly summarized.

scholarly journals U-IMD: The first Unified European registry for Inherited Metabolic Diseases

2021 ◽  
Author(s):  
Thomas Opladen ◽  
Florian Gleich ◽  
Viktor Kozich ◽  
Maurizio Scarpa ◽  
Diego Martinelli ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Patient Registry ◽  
Reference Network ◽  
Data Set ◽  
Common Data Elements ◽  
Inherited Metabolic Diseases ◽  
European Reference Network ◽  
Collect Patient Data ◽  
Data Elements ◽  
European Registry

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results: In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered.Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

scholarly journals Ethical challenges of the healthcare transition to adult antiretroviral therapy (ART) clinics for adolescents and young people with HIV in Uganda

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Scovia Nalugo Mbalinda ◽  
Sabrina Bakeera-Kitaka ◽  
Derrick Lusota Amooti ◽  
Eleanor Namusoke Magongo ◽  
Philippa Musoke ◽  
...  
Keyword(s):  
Young People ◽  
Patient Autonomy ◽  
Ethical Issues ◽  
Transition Process ◽  
Hiv Care ◽  
Ethical Challenges ◽  
Successful Transition ◽  
Healthcare Transition ◽  
Increased Risk ◽  
Retention In Hiv Care

Abstract Background Whereas many adolescents and young people with HIV require the transfer of care from paediatric/adolescent clinics to adult ART clinics, this transition is beset with a multitude of factors that have the potential to hinder or facilitate the process, thereby raising ethical challenges of the transition process. Decisions made regarding therapy, such as when and how to transition to adult HIV care, should consider ethical benefits and risks. Understanding and addressing ethical challenges in the healthcare transition could ensure a smooth and successful transition. The purpose of this study was to analyze the ethical challenges of transitioning HIV care for adolescents into adult HIV clinics. Methods Data presented were derived from 191 adolescents attending nine different health facilities in Uganda, who constituted 18 focus group discussions. In the discussions, facilitators and barriers regarding adolescents transitioning to adult HIV clinics were explored. Guided by the Silences Framework for data interpretation, thematic data analysis was used to analyze the data. The principles of bioethics and the four-boxes ethics framework for clinical care (patient autonomy, medical indications, the context of care, and quality of life) were used to analyze the ethical issues surrounding the transition from adolescent to adult HIV care. Results The key emerging ethical issues were: reduced patient autonomy; increased risk of harm from stigma and loss of privacy and confidentiality; unfriendly adult clinics induce disengagement and disruption of the care continuum; patient preference to transition as a cohort, and contextual factors are critical to a successful transition. Conclusion The priority outcomes of the healthcare transition for adolescents should address ethical challenges of the healthcare transition such as loss of autonomy, stigma, loss of privacy, and discontinuity of care to ensure retention in HIV care, facilitate long-term self-care, offer ongoing all-inclusive healthcare, promote adolescent health and wellbeing and foster trust in the healthcare system. Identifying and addressing the ethical issues related to what hinders or facilitates successful transitions with targeted interventions for the transition process may ensure adolescents and young people with HIV infection remain healthy across the healthcare transition.

scholarly journals Young adults’ perceptions of living with atopic dermatitis in relation to the concept of self-management: a qualitative study

BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e044777
Author(s):  
Susanne Lundin ◽  
Marina Jonsson ◽  
Carl-Fredrik Wahlgren ◽  
Emma Johansson ◽  
Anna Bergstrom ◽  
...  
Keyword(s):  
Young Adults ◽  
Atopic Dermatitis ◽  
Qualitative Study ◽  
Healthcare Providers ◽  
Transition Process ◽  
Population Based ◽  
Self Management ◽  
School Age ◽  
Perceived Availability ◽  
Semistructured Interviews

ObjectivesLearning to take control of one’s health is an important part of the transition from adolescence to adulthood. This study aimed to explore young adults’ perceptions of living with atopic dermatitis (AD) in relation to the concept of self-management.DesignA qualitative study with an inductive approach was performed through semistructured interviews (n=15). The interviews were recorded, transcribed verbatim and analysed with systematic text condensation.ParticipantsYoung adults (mean age 23,4 years) with persistent AD in a longitudinal population-based birth cohort. To capture experience of living with persistent AD (preschool/school-age onset) of different severity (mild to severe/very severe), a purposive selection was performed. In total, 15 young adults were included. Persistent AD (preschool/school-age onset) was defined as dry skin in combination with itchy rash of typical localisation in the 12 months preceding the 16-year and the 24-year follow-ups. Severity was self-assessed using the Patient Oriented Eczema Measure.ResultsDespite having experience of AD since childhood, the respondents expressed uncertainty about treatment and how it affected their bodies. Their uncertainties and feelings affected how they used topical corticosteroids. The respondents emphasised that they perceived availability of healthcare and knowledge about treatment of AD among healthcare providers to be limited. The participants did not state any experiences of support to self-management from healthcare, which affect young adults’ possibilities to take full control of their AD care.ConclusionsYoung adults with preschool/school-age onset of AD are unsure how to treat and manage the disease. One explanation may be insufficient transition process.

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