Digynic triploidy: Utility and challenges of noninvasive prenatal testing

Low fraction fetal DNA in noninvasive prenatal testing in the context of fetal growth restriction and multiple congenital anomalies should alert medical professionals to the possibility of digynic triploidy. Single-nucleotide polymorphism microarray can detect the parental origin of triploidy and explain its mechanism

Developing a medication adherence technologies repository: proposed structure and protocol for an online real-time Delphi study

Introduction An online interactive repository of available medication adherence technologies may facilitate their selection and adoption by different stakeholders. Developing a repository is among the main objectives of the European Network to Advance Best practices and technoLogy on medication adherencE (ENABLE) COST Action (CA19132). However, meeting the needs of diverse stakeholders requires careful consideration of the repository structure. Methods and analysis A real-time online Delphi study by stakeholders from 39 countries with research, practice, policy, patient representation and technology development backgrounds will be conducted. Eleven ENABLE members from 9 European countries formed an interdisciplinary steering committee to develop the repository structure, prepare study protocol and perform it. Definitions of medication adherence technologies and their attributes were developed iteratively through literature review, discussions within the steering committee and ENABLE Action members, following ontology development recommendations. Three domains (product and provider information (D1), medication adherence descriptors (D2) and evaluation and implementation (D3)) branching in 13 attribute groups are proposed: product and provider information, target use scenarios, target health conditions, medication regimen, medication adherence management components, monitoring/measurement methods and targets, intervention modes of delivery, target behaviour determinants, behaviour change techniques, intervention providers, intervention settings, quality indicators and implementation indicators. Stakeholders will evaluate the proposed definition and attributes’ relevance, clarity and completeness and have multiple opportunities to reconsider their evaluations based on aggregated feedback in real-time. Data collection will stop when the predetermined response rate will be achieved. We will quantify agreement and perform analyses of process indicators on the whole sample and per stakeholder group. Ethics and dissemination Ethical approval for the COST ENABLE activities was granted by the Malaga Regional Research Ethics Committee. The Delphi protocol was considered compliant regarding data protection and security by the Data Protection Officer from University of Basel. Findings from the Delphi study will form the basis for the ENABLE repository structure and related activities

An adaptive network model of the role of the gut-brain axis in Parkinson's disease

This paper presents an adaptive network model of the brain-gut axis and its related mechanisms that play major roles in the development of Parkinson's Disease. Simulations gave useful insight into how the biological and mental pathways interact with each other. In addition, the model provides information on the different time spans that are taken into consideration within these processes

An adaptive network model of the role of the gut-brain axis in Parkinson's disease

This paper presents an adaptive network model of the brain-gut axis and its related mechanisms that play major roles in the development of Parkinson's Disease. Simulations gave useful insight into how the biological and mental pathways interact with each other. In addition, the model provides information on the different time spans that are taken into consideration within these processes

Half a Century of Fragmented Research on Deviations from Advised Therapies: Is This a Good Time to Call for Multidisciplinary Medication Adherence Research Centres of Excellence?

Medication adherence is a key precondition of the effectiveness of evidence-based therapies. However, in real-life settings, non-adherence to medication is still very common. This leads to profound health and economic consequences at both individual and public health levels. The problem of non-adherence has been extensively studied in the last 50 years. Unfortunately, with more than 130,000 scientific papers published on that subject so far, we are still far from finding an ultimate solution. This is, at least partly, due to fragmented and poor-quality research that has been conducted in this field sometimes. To overcome this deadlock, there is a need to stimulate the adoption of best practices in medication adherence-related research in a systematic way. Therefore, herein we propose the establishment of dedicated medication adherence research Centres of Excellence (CoEs). These Centres could not only conduct research but could also create a profound societal impact, directly serving the needs of patients, healthcare providers, systems and economies. Additionally, they could play a role as local advocates for good practices and education. In this paper, we propose some practical steps that might be taken in order to establish such CoEs. We describe two success stories, i.e., Dutch and Polish Medication Adherence Research CoEs. The COST Action "European Network to Advance Best practices & technoLogy on medication adherencE" (ENABLE) aims to develop a detailed definition of the Medication Adherence Research CoE in the form of a list of minimal requirements regarding their objectives, structure and activities. We hope that it will help to create a critical mass and catalyse the setup of regional and national Medication Adherence Research CoEs in the near future. This, in turn, may not only increase the quality of the research but also raise the awareness of non-adherence and promote the adoption of the best medication adherence-enhancing interventions

Towards precision cardiometabolic prevention: results from a machine learning, semi-supervised clustering approach in the nationwide population-based ORISCAV-LUX 2 study

International audienceGiven the rapid increase in the incidence of cardiometabolic conditions, there is an urgent need for better approaches to prevent as many cases as possible and move from a one-size-fits-all approach to a precision cardiometabolic prevention strategy in the general population. We used data from ORISCAV-LUX 2, a nationwide, cross-sectional, population-based study. On the 1356 participants, we used a machine learning semi-supervised cluster method guided by body mass index (BMI) and glycated hemoglobin (HbA1c), and a set of 29 cardiometabolic variables, to identify subgroups of interest for cardiometabolic health. Cluster stability was assessed with the Jaccard similarity index. We have observed 4 clusters with a very high stability (ranging between 92 and 100%). Based on distinctive features that deviate from the overall population distribution, we have labeled Cluster 1 (N = 729, 53.76%) as "Healthy", Cluster 2 (N = 508, 37.46%) as "Family history-Overweight-High Cholesterol ", Cluster 3 (N = 91, 6.71%) as "Severe Obesity-Prediabetes-Inflammation" and Cluster 4 (N = 28, 2.06%) as "Diabetes-Hypertension-Poor CV Health". Our work provides an in-depth characterization and thus, a better understanding of cardiometabolic health in the general population. Our data suggest that such a clustering approach could now be used to define more targeted and tailored strategies for the prevention of cardiometabolic diseases at a population level. This study provides a first step towards precision cardiometabolic prevention and should be externally validated in other contexts

Developing a medication adherence technologies repository: proposed structure and protocol for an online real-time Delphi study.

An online interactive repository of available medication adherence technologies may facilitate their selection and adoption by different stakeholders. Developing a repository is among the main objectives of the European Network to Advance Best practices and technoLogy on medication adherencE (ENABLE) COST Action (CA19132). However, meeting the needs of diverse stakeholders requires careful consideration of the repository structure. A real-time online Delphi study by stakeholders from 39 countries with research, practice, policy, patient representation and technology development backgrounds will be conducted. Eleven ENABLE members from 9 European countries formed an interdisciplinary steering committee to develop the repository structure, prepare study protocol and perform it. Definitions of medication adherence technologies and their attributes were developed iteratively through literature review, discussions within the steering committee and ENABLE Action members, following ontology development recommendations. Three domains (product and provider information (D1), medication adherence descriptors (D2) and evaluation and implementation (D3)) branching in 13 attribute groups are proposed: product and provider information, target use scenarios, target health conditions, medication regimen, medication adherence management components, monitoring/measurement methods and targets, intervention modes of delivery, target behaviour determinants, behaviour change techniques, intervention providers, intervention settings, quality indicators and implementation indicators. Stakeholders will evaluate the proposed definition and attributes' relevance, clarity and completeness and have multiple opportunities to reconsider their evaluations based on aggregated feedback in real-time. Data collection will stop when the predetermined response rate will be achieved. We will quantify agreement and perform analyses of process indicators on the whole sample and per stakeholder group. Ethical approval for the COST ENABLE activities was granted by the Malaga Regional Research Ethics Committee. The Delphi protocol was considered compliant regarding data protection and security by the Data Protection Officer from University of Basel. Findings from the Delphi study will form the basis for the ENABLE repository structure and related activities