Digital screening tool for the assessment of cognitive impairment in unsupervised setting–digiDEM-SCREEN: study protocol for a validation study

Introduction
Dementia is one of the most relevant widespread diseases, with a prevalence of currently 55 million people with dementia worldwide. However, about 60–75% of people with dementia have not yet received a formal diagnosis. Asymptomatic screening of cognitive impairments using neuropsychiatric tests has been proven to efficiently enhance diagnosis rates. Digital screening tools, in particular, provide the advantage of being accessible without spatial or time restrictions. The study aims to validate a digital cognitive screening test (digiDEM-SCREEN) as an app in the German language.

Methods and analysis
This is a multicentre study in Bavaria. Participants are people with mild cognitive impairment, people with dementia in an early stage and cognitively healthy people. Recruitment will take place in specialised diagnostic facilities (memory outpatient clinics). 135 participants are aimed based on a power analysis. Sociodemographic data, diagnosis and results of neuropsychiatric tests (Consortium to Establish a Registry for Alzheimer’s Disease, Montreal Cognitive Assessment, digiDEM-SCREEN) will be collected at one point per person via electronic data capturing. The sensitivity, specificity and corresponding cut-off values will be determined based on receiver-operating-characteristic curves. The correlation of the digiDEM-SCREEN test with existing cognitive screening/testing procedures will be analysed.

Ethics and dissemination
The study obtained ethical approval from the Ethics Committee of the Julius-Maximilians-Universität of Würzburg (JMU) (application number: 177/23-sc). The test will give feedback about the current cognitive status and possible cognitive impairments that should lead to the users seeking further diagnostic measures by medical professionals. It will be accessible free of charge in established app stores. The results of the validation study will be published in peer-reviewed journals.

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Gennaio 2025

Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study

Introduction
MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians. Still, access to it by primary care healthcare professionals (HCPs), coupled with appropriate training, would improve the diagnosis and management of patients with MODY2. Thus, to evaluate the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene study), an implementation pilot study has been designed supported by the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) framework.

Method and analysis
Two primary care clinics will be involved in the region of Saguenay-Lac-Saint-Jean (Québec, Canada). An asynchronous online training on MODY2 and genetic testing, including pre/post questionnaires, will be provided to the HCPs. Satisfaction, adoption and maintenance indicators will be collected throughout the project for each clinic. Questionnaires for patients and professionals and focus groups with HCPs will be conducted to assess implementation. This study will document the implementation process of genetic testing in primary care by identifying facilitating and limiting factors to establish specifications for scaling up.

Ethics and dissemination
The present protocol has been approved by the research ethic committee of the ‘Centre intégré universitaire de santé et de services sociaux of Saguenay-Lac-Saint-Jean’ (CIUSSS-SLSJ) on 9 January 2024 and by the ‘Comité central d’éthique de la recherche’ (CCER) of the ‘Ministère de la Santé et des Services Sociaux’ of Quebec (Canada) on 30 January 2024. The informed consent of participants will be obtained orally. Dissemination of the study results will involve peer-review publications, presentations at major national and international scientific conferences.

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Gennaio 2025

Colonoscopies Outperform New Blood Tests for Colon Cancer Screening

The prospect of avoiding an invasive colonoscopy has helped fuel interest around new less-invasive alternatives to colorectal cancer screenings, such as stool-based tests and cell-free blood-based DNA tests, which received approval from the US Food and Drug Administration (FDA) this past July. But traditional colonoscopies remain the best method for catching colorectal cancer early, according to a study published in the Annals of Internal Medicine.

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Gennaio 2025

EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents

Introduction
The identification of type 1 diabetes at an early presymptomatic stage has clinical benefits. These include a reduced risk of diabetic ketoacidosis (DKA) at the clinical manifestation of the disease and a significant reduction in clinical symptoms. The European action for the Diagnosis of Early Non-clinical Type 1 diabetes For disease Interception (EDENT1FI) represents a pioneering effort to advance early detection of type 1 diabetes through public health screening. With the EDENT1FI Master Protocol, the project aims to harmonise and standardise screening for early-stage type 1 diabetes and care.

Methods and analysis
Public health islet autoantibody screening is conducted in the Czech Republic, Denmark, Germany, Italy, Poland, Portugal, Sweden and the UK. Between November 2023 (start date) and October 2028 (planned end date), an estimated number of 200 000 children and adolescents aged 1–17 years are expected to be screened. Screening is performed in capillary blood, examining different islet autoantibodies (autoantibodies against insulin, glutamic acid decarboxylase-65, insulinoma-associated antigen-2 and/or zinc transporter-8). Positive screening results undergo confirmation through a second antibody method. A second (venous) blood sample is requested if at least two autoantibodies are detected, to confirm the autoantibody status. Children and adolescents with confirmed two or more autoantibodies are invited to metabolic staging (oral glucose tolerance test, haemoglobin A1c (HbA1c), random glucose, optionally continuous glucose monitoring); an educational programme and recommendations for monitoring are provided. The feasibility and acceptability of screening are evaluated by feedback questionnaires. Pseudonymised data is collated in the EDENT1FI Registry. Study outcomes include country-specific screening rates, prevalences of stage 1 and stage 2 type 1 diabetes, number in EDENT1FI Registry, proportion with DKA and symptoms at clinical diagnosis and median HbA1c.

Ethics and dissemination
Following the EDENT1FI Master Protocol, site-specific protocols are developed and approved by local ethics committees (Technical University of Munich, Medical Faculty, Nr. 70/14; Medizinische Hochschule Hannover, Nr. 9588_BO_S_2021; Technische Universität Dresden, Nr. BO-EK-356082020; Center for Sundhed Region Hovedstaden, Nr. H-22053116; Swedish Ethical Review Authority, Nr. 2023-00312-01; National Health Service Health Research Authority and Health Care Research Wales, IRAS (Integrated Research Application System) project ID 309252; Italian National Institute of Health, National ethics committee for clinical trials of public research bodies (EPR) and other national public institutions, Prot. PRE BIO CE Nr. 0059835; Charles University in Prague, Ethics Committee for Multi-Centric Clinical Trials of the University Hopital Motol and 2nd Faculty of Medicine, Nr. 1271/23; Bioethics Committee at the Medical University of Warsaw, Nr. 21/2024 and KB/6/R/2024; Associacão Protectora dos Diabéticos de Portugal, Nr. 211/2024). Results are disseminated through peer-reviewed journals and conference presentations and will be shared openly.

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Gennaio 2025

Is the Multitarget Stool DNA Test Just a Better “FIT” for Colorectal Cancer Screening?

Both the fecal immunochemical test (FIT) and multitarget stool DNA test (mt-sDNA) are stool-based screening tests for colorectal cancer (CRC) that are reported qualitatively as positive or negative, even though both tests are quantitative, producing a precise value on a continuous scale. The FIT quantifies the globin portion of human hemoglobin in either per milliliter of buffer or per gram of stool, while the mt-sDNA test generates a score from a multivariable algorithm that measures human hemoglobin as well as specific abnormalities in human DNA. For both tests, the threshold (ie, the cut point) determines how the test performs, ie, its sensitivity and specificity. Lowering the threshold increases sensitivity for CRC, advanced precancerous lesions (APLs), or both and would likely decrease specificity, resulting in a higher false-positive rate and more (unnecessary) colonoscopies.

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Gennaio 2025

Factors associated with foot self-care behaviour and foot screening attendance in people with type 2 diabetes: a cross-sectional study in primary care

Objectives
To assess the factors associated with foot self-care behaviour and non-adherence to foot screening among patients with type 2 diabetes mellitus (T2DM).

Design and setting
A multicentre cross-sectional study was undertaken in seven primary care polyclinics in Singapore between October 2020 and December 2021.

Participants and outcomes
275 adults (male 55.3%) with T2DM were included and assessed with the foot self-care behaviour questionnaire, including two aspects of foot care behaviour-preventative behaviour and potential damaging behaviour, and foot care confidence scale. Non-adherence to diabetic foot screening (DFS) attendance was also collected and assessed.

Results
The average preventive behaviour score was 0.65 (SD 0.13, range 0–1) and potential damaging behaviour score was 0.43 (SD 0.09, range 0–1). Patients with greater foot care confidence (β=0.272) and being married (β=0.141) were more likely to adopt preventive behaviours, while patients aged between 21 and 45 years (β=0.136), having shorter DM duration (

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Dicembre 2024