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Genetic, lifestyle and environmental influences on health: a Finnish biobank recall study protocol (BioRecall)

Por: Sillanpää · E. · Föhr · T. · Kurtti · E. · Aittola · K. · Mäkelä · J. · Southerington · T. · Lakka · T. A. · Jokela · T. · Ahtiainen · M. · Laakkonen · E. · Rantakokko · M. · Ravi · S.
Introduction

Non-communicable diseases are the leading causes of premature mortality worldwide. Both genetic predispositions and environmental exposures affect disease risk. While biobanks have increased understanding of genetic predictors of these diseases, environmental influences are expected to have a greater impact on disease development. Individuals also create their own environments and lifestyles based on genetically regulated preferences, leading to gene–environment interactions that require large datasets to study. Finnish biobanks typically lack sufficient lifestyle and environmental data, which limits their use. We present a protocol for a biobank-recall study (BioRecall) to collect data on lifestyle and environmental exposures and combine these findings with genotypes, biological samples and clinical outcomes.

Methods and analysis

All previously genotyped donors from the Central Finland Biobank who have been diagnosed with type 2 diabetes and have consented to recall will be invited to participate in the pilot study. The preliminary feasibility assessment reveals that there are 1580 suitable candidates. Participants will complete an electronic questionnaire on a secure online platform. The questionnaire includes validated questions on lifestyles, anthropometrics, weight loss history, health, symptoms, work characteristics, emotional states and residential environments. Postcode information will facilitate the addition of spatial environmental data. Genotype and related clinical data will be provided in the study in accordance with the Finnish Biobank Act and combined with questionnaire data.

Ethics and dissemination

The Human Sciences Ethics Committee of the University of Jyväskylä delivered a favourable statement regarding the study protocol (1671/13.00.04.00/2023). Central Finland Biobank approved the research plan (no: BB24-0333-A01). The data collected will be returned to the Central Finland Biobank for research purposes with the participants’ consent. Permission for data usage can then be applied through standard protocols of the Fingenious service (https://site.fingenious.fi/en/). If successful, the study will be expanded to other donors and Finnish biobanks.

Which medical subspecialties use qualitative research? A bibliometric analysis

Por: Gittus · M. · Sutton · A. · Lagojda · L. · OCathain · A. · Fotheringham · J.
Objectives

Qualitative research addresses ‘how’ and ‘why’ questions in healthcare. It captures the complexity of clinical practice by providing insights into experiences, behaviours and context often missed by quantitative methods. The objective of this review was to explore the volume, trends and adherence to reporting standards in qualitative research across hospital-based medical subspecialties.

Design

Longitudinal bibliometric review.

Setting and participants

Ovid Medline, Embase and Emcare were searched for qualitative research published between 2000 and 2024 in 12 medical subspecialties. For each subspecialty, the number and percentage of qualitative publications was identified. Adherence to reporting standards was assessed in a random sample of publications covering all subspecialties.

Results

Between 2000 and 2024, 715 471 qualitative research studies were published across 12 medical subspecialties, representing 1.36% of all studies (52 620 042). Neurology and oncology had the highest number of qualitative studies (116 835 and 106 360). Although infectious diseases contributed a lower absolute number of qualitative studies (59 947), they had the highest proportion relative to all studies (4.07%). Conversely, nephrology and haematology exhibited the lowest number of qualitative studies (14 510 and 29 198) and smallest proportions (0.90% and 0.81%). Overall, the annual proportion of qualitative research increased from 0.64% (6052/945 008) in 2000 to 1.95% (56 909/2 919 825) in 2024. However, the relative positions remained largely stable over time.

Adherence to reporting standards was generally good, particularly in relation to methodological coherence. However, there was under-reporting of positionality (where researchers consider how their identity and standpoint may influence the research process) and reflexivity (where researchers critically reflect on how their assumptions and decisions shape the study).

Conclusions

Qualitative research is under-represented in medical subspecialties but has increased steadily over time, with notable variation in adoption between subspecialties. While overall adherence to reporting standards is good, greater attention to positionality and reflexivity is needed to enhance transparency and rigour.

International evaluation of the SEIZUre Risk in Encephalitis (SEIZURE) score for predicting acute seizure risk

Por: Hughes · T. · Venkatesan · A. · Hetherington · C. · Egbe · F. N. · Netravathi · M. · Thakur · K. T. · Baykan · B. · Hui Jan · T. · Arias · S. · Garcia-de Soto · J. · Kahwagi · J. · Vogrig · A. · Versace · S. · Habis · R. · Sowmitran · S. · Husari · K. S. · Probasco · J. · Hasbun · R. · Bea
Objective

Encephalitis is brain parenchyma inflammation, frequently resulting in seizures which worsens outcomes. Early anti-seizure medication could improve outcomes but requires identifying patients at greatest risk of acute seizures. The SEIZURE (SEIZUre Risk in Encephalitis) score was developed in UK cohorts to stratify patients by acute seizure risk. A ‘basic score’ used Glasgow Coma Scale (GCS), fever and age; the ‘advanced score’ added aetiology. This study aimed to evaluate the score internationally to determine its global applicability.

Design

Patients were retrospectively analysed regionally, and by country, in this international evaluation study. Univariate analysis was conducted between patients who did and did not have inpatient seizures, followed by multivariable logistic regression, hierarchical clustering and analysis of the area under the receiver operating curves (AUROC) with 95% CIs.

Participants and setting

2032 patients across 13 countries were identified, among whom 1324 were included in SEIZURE score calculations and 970 were included in regression modelling. The involved countries comprised 19 organisations spanning all WHO regions.

Outcome measures

The primary outcome was measuring inpatient seizure rates.

Results

Autoantibody-associated encephalitis, low GCS and presenting with a seizure were frequently associated with inpatient seizures; fever showed no association. Globally, the score had limited discriminatory ability (basic AUROC 0.58 (95% CI 0.55 to 0.62), advanced AUROC 0.63 (95% CI 0.60 to 0.66)). The scoring system performed acceptably in western Europe, excluding Spain, with the best performance in Portugal (basic AUROC 0.82 (95% CI 0.69 to 0.94), advanced AUROC 0.83 (95% CI 0.72 to 0.95)).

Conclusions

The SEIZURE score performed best in several countries in Western Europe but performed poorly elsewhere, partly due to differing and unknown aetiologies. In most regions, the score did not reach a threshold to be clinically useful. The Western European results could aid in designing clinical trials assessing primary anti-seizure prophylaxis in encephalitis following further prospective trials. Beyond Western Europe, there is a need for tailored, localised scoring systems and future large-scale prospective studies with optimised aetiological testing to accurately identify high-risk patients.

Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership

Por: Robertson · E. G. · Hetherington · K. · Prain · M. · Ma · A. · Ayton · L. N. · Jamieson · R. V. · Shepard · E. · Boyd · L. · Hall · J. · Boyd · R. · Karandrews · S. · Feller · H. · Simunovic · M. P. · Grigg · J. R. · Yamamoto · K. · Wakefield · C. E. · Gonzalez-Cordero · A.
Objectives

Inherited retinal diseases (IRDs) are a broad range of diseases associated with abnormalities/degeneration of retinal cells. We aimed to identify the top 10 Australian research priorities for IRDs to ultimately facilitate more meaningful and potentially cost-effective research.

Design

We conducted a James Lind Alliance priority setting partnership that involved two Australian-wide surveys and online workshops.

Setting

Australia-wide.

Participants

Individuals aged 16 years or older were eligible to participate if they had an IRD, were caregivers of an individual with an IRD or were health professionals providing care to this community.

Outcome measure

In Survey 1, we gathered participants’ unanswered questions about IRDs. We grouped these into summary questions and undertook a literature review to verify if they were truly unanswered (ie, evidence uncertainties). In Survey 2, participants voted for the uncertainties that they considered a priority. Top-ranked uncertainties progressed for discussion and final prioritisation in two workshops.

Results

In Survey 1, we collected 223 questions from 69 participants. We grouped these into 42 summary questions and confirmed 41 as evidence uncertainties. In Survey 2, 151 participants voted, with the 16 uncertainties progressing to final prioritisation. The top 10 priorities, set by the 24 workshop participants, represented (1) treatment/cure; (2) symptoms and disease progression; (3) psychosocial well-being and (4) health service delivery. The #1 priority was for treatment to prevent, slow down or stop vision loss, followed by the #2 priority to address the psychological impact of having an IRD.

Conclusion

The top 10 research priorities highlight the need for IRD research that takes a whole-person, systems approach. Collaborations to progress priorities will accelerate the translation of research into real-world benefits.

Incidence of type 2 diabetes by socioeconomic deprivation in Germany between 2014 and 2019: an ecological study

Por: Piedboeuf-Potyka · K. · Hering · R. · Schulz · M. · Mackowiak · M. · Brinks · R. · Kuss · O. · Hoyer · A. · Tönnies · T.
Objective

To estimate type 2 diabetes incidence trends by sex and socioeconomic position (SEP) and evaluate trends in SEP-related inequalities in incidence.

Design

Ecological study using ambulatory claims data and regression-based modelling.

Setting

All 401 counties in Germany, covering the entire country.

Participants

All individuals with statutory health insurance (~85% of the population). Incident cases of type 2 diabetes were identified annually from 2014 to 2019 using the International Statistical Classification of Diseases and Related Health Problems, 10th revision codes.

Primary and secondary outcome measures

Incident type 2 diabetes at the county level, adjusted for age and modelled using a mixed negative binomial regression. SEP was measured using the German Index of Socioeconomic Deprivation, and a random intercept accounted for county-level heterogeneity.

Results

The incidence of type 2 diabetes decreased between 2014 and 2017 and plateaued thereafter. Trends were similar between sexes and deprivation levels. The greatest difference was observed between high and low deprivation, with an incidence rate ratio of 1.20 (95% CI: 1.14 to 1.27) among men and 1.21 (95% CI: 1.14 to 1.27) among women in 2014.

Conclusions

There was a positive trend in the decline in age-adjusted type 2 diabetes incidence between 2014 and 2019. However, social inequality persisted with deprived groups at higher risk of type 2 diabetes. The level of inequality was comparable between men and women. Continued monitoring is essential to assess whether these short-term trends persist over time.

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