bluuebunny/crossref_metadata_2025_split huggingface dataset:
Progressing towards personalised medicine: the Genomic Data Infrastructure (GDI) project
Authors: Pascucci E , Causio F A , Pesole G , Chiara M , Morelli M , Tonon G , Nicassio F , Pastorino R , Calabrò G E , Boccia S 
Published: October 2024

Abstract

Funded by the European Commission under the Digital Europe Programme and through co-funding from participating Member States, the European Genomic Data Infrastructure (GDI) aims to support the 1+Million Genome initiative for establishing an effective data infrastructure for genomic data. GDI has the potential to fill the gap between genomic research and clinical practice, promoting the implementation of data-driven precision medicine in Europe with the harmonisation of genomic and related phenotypic and clinical data across adhering countries. Launched in November 2022, the GDI project is a collaborative effort involving partners from 20 European countries, divided into 8 Work Packages across three Pillars. GDI is structured with the development of a framework (Pillar I Long-term sustainability) and the necessary tools (Pillar II 1+MG infrastructure deployment), with the implementations of use cases (Pillar III Application and innovation solution) to support research and innovation, integrate findings into the clinic and healthcare, and improve public health measures. In the first 2 years, we completed the starter kit which we are currently testing with real data. Over the subsequent years, the GDI project aims to provide a federated and sustainable infrastructure for facilitating research that use genomic data. Through authorized secure access, clinicians and researchers can leverage genomic insights for faster and more precise clinical decision-making, diagnosis, and treatments. The GDI project represents a significant opportunity to improve healthcare outcomes and public health measures by leveraging the potential of genomics. By providing secure access to extensive genomic datasets combined with phenotyped data, the infrastructure sets the foundation for international partnerships in personalized medicine. Ultimately, this initiative holds the promise of advancing medical understanding, enhancing patient care, and fostering economic growth across Europe.

Key messages
• GDI drives personalised medicine via international collaboration, building a sustainable infrastructure. Harmonizing data accelerates innovation, improving outcomes and fostering growth in Europe.
• GDI aims to revolutionize healthcare by collecting and harmonizing genomic and clinical data in Europe. It facilitates faster and more precise decisions and treatments, improving healthcare outcomes.
Risk perceptions and risk behavior among children attending a road safety education program in Greece
Authors: Vagionaki K , Lioliou S , Galathri E , Koutsodimitropoulou I , Tsitakis T , Poimenidou S , Markakis G , Gnardellis C H , Chliaoutakis J , Papadakaki M 
Published: October 2024

Abstract

Background
Road Traffic Injuries (RTI’s) are a significant public health concern for children, placing a considerable burden on their well-being. Greece has consistently recorded high numbers of RTI’s among adolescents.

Methods
A university lab (LaHeRS, HMU) offers a road safety education program for primary and secondary students in Heraklion, Greece. The program consists of two parallel sessions (practical training using a driving simulator and activity-based risk-perception training) aimed at enhancing competencies in resilience to peer influence, empowering children to engage in informed decision-making and fostering hazard perceptions skills. The current presentation reports on 800 students who attended the program between October 2023 and April 2024. A structured questionnaire was used to collect data on student’s beliefs, attitudes and practices on road safety.

Results
A total of 800 students attended the program from the broader Crete Region. 50.5% were girls with a mean age of 12.6 (SD = 2.3) years, 60.9% secondary education students, 58% resided in rural areas. 33.9% reported using a motorcycle and 33.8% a car without a driving license. 23.3% reported experiencing a road traffic incident while commuting. 57.1% identified road safety as a problem in their place of residence, only 26.5% felt safe on local streets and only 9.1% considered other road users as watchful. Additionally, 66.8% highly valued helmet use as a precaution in short distances. 71.6% reported always wearing seatbelt in front seats and 68.9% thought seatbelts are important at back seats. 52.1% did not identify themselves as risk takers on the street, and only 22.5% felt competent in avoiding road risks. 32.9% admitted experiencing peer pressure while commuting.

Conclusions
Risk taking behaviors and low use of protective measures are prevalent among school aged children and need to be addressed through targeted road safety education programs and interventions.

Key messages
• Promoting safe behaviors and enhancing risk perception is critical among children and young adolescents.
• Road safety education should be integrated into school curricula, starting from pre-school education.
A review on efficacy of polygenic risk score information on behavioral change and clinical outcomes
Authors: Russo L , Farina S , Perilli A , Adduci A , Cristiano A , Pastorino R , Boccia S , Ioannidis JPA 
Published: October 2024

Abstract

Background
Polygenic Risk Score (PRS) represents a promising advancement in personalized medicine, enabling the inherited risk assessment for disease outcomes based on the effect of various common genetic variants. The utilization of PRS information to promote the adoption of healthier behaviors has witnessed an increase interest in recent years, but its full potential still needs to be fully addressed.

Methods
This systematic review aims to assess the efficacy of disclosing PRS information on individuals’ engagement in risk-reducing interventions. CENTRAL database has been searched up to December 2023 to identify randomized controlled trials (RCTs) comparing the disclosure of PRS results, with scenarios where other or no information is provided. We performed a preliminary meta-analysis on the mean difference of clinical and psychological outcomes between the two arms.

Results
Out of 4419 results, we included 12 studies. Trials focused on primary (83%), secondary (8%) and tertiary (8%) preventive interventions. As for the possible diseases predicted by the PRS, cardiovascular diseases (33%) were the most common (n = 4), along with cancers (33%), diabetes (25%) and metabolic disease (8%). PRS result disclosure was compared to standard care (n = 7), no information provided (n = 4), and family risk (n = 1). By pooling data from four comparable studies, we report a reduction in the mean difference for LDL cholesterol in the intervention group of -6.39mg/dL (95%CI -10.09, -2.70, I²=0%, p &lt; 0.001). No significant changes were observed for systolic and diastolic blood pressure, and weight, in 3 studies and 4 analyzed studies, respectively. An increase in anxiety levels was observed towards the PRS group in 4 studies (SMD 0.24, 95%CI 0.02, 0.46, I² = 66%, p = 0.03).

Conclusions
Preliminary analysis show small or no effects of PRS disclosure on intermediate health or psychological outcomes. Larger trials assessing the potentiality of PRS disclosure are still needed.

Key messages
• From the analysis of twelve preventive trials on the efficacy of PRS on behavior change, we report a positive effect on LDL cholesterol reduction.
• Larger well conducted trials are needed to integrate PRS-based information into future preventive strategies.
A university-based counseling program for perpetrators of family violence in Greece: initial evidence
Authors: Papadakaki M , Kounali V , Vagionaki K , Megge E , Manioti T H , Morfovasili M G , Dimitraki M , Toraki M , Mavridou S G , Vasilaki E 
Published: October 2024

Abstract

Penal mediation is defined in Greek Law 3500/2006 and aims at repairing the harm caused to the victim of family violence and rebuild family relationships. Mediation process starts upon victims’ unreserved consent and perpetrators’ willingness to stop further acts of violence, attend a counseling program and restore any harm/damage caused to the victim. Then the prosecutor ceases the case for 3 years and refers the perpetrator to counseling. If any of the previous conditions are violated during this period the criminal procedure continues at the stage before mediation. A university lab in Crete, Greece (LaHeRS, HMU) offers one of the few in Greece perpetrators’ behavior change programs in collaboration with the Prosecutor’s Office. LaHeRS counseling program consists of a minimum of 24 sessions per offender based on an individual or group approach. Emphasis is placed on perceptions of power and control, anger management, trauma management, emotional expression, and social/communication skills. Each perpetrator is offered 2 sessions (intake/violence documentation and assessment of individual/couples’ needs), 2-3 sessions for psychiatric and risk assessment, 12-15 individual or group counseling sessions (combined with couples’ sessions, as necessary), 2-4 individual social support sessions. Sessions are conducted by trained psychologists and social workers. The current presentation reports on the Intimate partner violence (IPV) cases referred between February 2022 and December 2023. A total of 70 IPV cases attended the program (male n = 65; mean age 43.4; Greek n = 56; urban residence n = 49; children average=1.92). Physical violence was reported in 54 cases and verbal aggression in 43 cases. Four perpetrators had mental health problems and 6 were identified with some form of drug and alcohol misuse. Lack of communication and emotional skills, lack of parent emotional support, gender roles stereotypes and patriarchal attitudes were common among perpetrators.

Key messages
• It is important for perpetrators’ programs to address the underlying causes of criminal behavior to promote positive changes in perpetrators’ lives.
• Effective penal mediation programs require collaboration and partnership between justice agencies, academia and community organizations.
Addressing deficits in malnutrition care in northern Sierra Leone; an educational intervention
Authors: Gabbott L 
Published: October 2024

Abstract

The 2017 Sierra Leone National Nutrition Survey reported poor practice regarding the medical management of severe acute malnutrition and the provision of emergency food to patients, particularly in the northern city of Makeni. We developed a training package for paediatric nurses, aiming to design an easily reproducible format which could be utilised nationally. Our aims were to empower and educate staff to provide more consistent care by challenging the negative cultural perception of malnourished patients and increasing knowledge of key guidelines. A two-day course based around UNICEF guidance on malnutrition was developed with the financial support of the Sierra Leonean office of the World Health Organisation. We sought the advice of local staff on issues impacting the quality of malnutrition care, including cultural barriers, educational limitations and supply issues. Lectures and practical sessions were devised covering recognition, assessment and management. Communication skills were taught using role play, focussing on the key role of nurses in parental education, and nursing skills were reinforced using practical tasks. Local staff identified for their strong teaching and leadership were recruited as instructors and to provide feedback on session design and content. 21 candidates attended from across the region, with the majority based in inpatient feeding units. Candidates completed a pre- and post-course written examination and a qualitative feedback form. Pre-course exam results ranged from 35%-85% with an average of 65%; post-course results showed improvement with a range of 55%-100% and an average of 88%. Candidates rated the course on average 9.7 out of 10 and the written feedback was positive. We subsequently observed positive changes in clinical practice in the inpatient feeding units across the region. Based on these assessments the course achieved its aims. Further study is needed to know if noted clinical improvements were sustained.

Key messages
• Challenging local cultural perceptions of malnourished patients is crucial to establishing improvement in medical care for this group.
• Sustainable educational intervention requires local instructors who can independently deliver teaching, and establishing this cohort at the course inception is critical to its ongoing success.
Professionals’ perspectives on barriers for timely antenatal care for ethnic minority women
Authors: Puthussery S , Verstraeten A , Ilozumba O 
Published: October 2024

Abstract

Background
Antenatal care (ANC) is important to promote health and well-being of women and babies. Women from ethnic minority backgrounds are likely to start ANC later and to attend fewer appointments than recommended compared to white women. These women and their babies are more likely to experience negative health outcomes. This study explored the perspectives of maternity care professionals on barriers for timely ANC initiation for ethnic minority women in the UK (UK) and The Netherlands.

Methods
We conducted qualitative semi structured in-depth interviews with 19 healthcare professionals (eight and eleven from the UK and The Netherlands respectively) including nurses, midwives, general practitioners and obstetricians. All interviews were conducted virtually on Teams or Zoom and were recorded, transcribed and analysed using a thematic approach using ATLAS.ti version 9 software.

Results
Maternity care professionals in the UK and The Netherlands perceived more or less similar barriers for ethnic minority women for timely ANC initiation. As reflected in the accounts, these barriers operated at individual and health system levels, and included negative interactions with antenatal care providers, women’s and community’s lack of trust in the health system, differences in spoken language between women and professionals, cultural differences, role of family and wider networks, and difficulties in reaching care. Perceived measures to facilitate access included skill development of healthcare professionals; educating women and building awareness in the community about how to navigate the healthcare system; integration of preventative psychosocial care into maternity services and continuity of care.

Conclusions
Similarity in perceived barriers and mitigation measures indicated the potential for developing and implementing targeted cross-country interventions to facilitate timely ANC initiation for ethnic minority women in high-income European countries.

Key messages
• Maternity care professionals in the UK and The Netherlands perceived similar barriers for ethnic minority women for timely ANC initiation.
• There is potential for developing targeted cross-country programmes and services to support mothers from ethnic minority backgrounds to start antenatal care on time.
Inequalities in preterm birth by deprivation and ethnicity: A national cohort study in England
Authors: Hindes I , Zenner D , Ibrahim B , Jardine J , Iliodromiti S 
Published: October 2024

Abstract

Background
Preterm birth has decreased in the UK; however, the extent of inequalities remains unclear. This study aimed to quantify socioeconomic and ethnic inequalities in preterm birth rates using routinely collected maternity data in England.

Methods
Retrospective analysis of cohort data from the NHS England Hospital Episode Statistics (HES). All women aged 13-55 with a singleton livebirth (April 2018 to March 2021) at 24-42 weeks were included. Multivariate Poisson regression was used to estimate the rate of preterm birth (livebirth between 24 + 0 and 36 + 6 weeks’) for each ethnic and deprivation postcode group, these were compared to white women from the least deprived 20% of areas. We iteratively developed the model, adjusting for covariates associated with preterm birth. A post-hoc calculation identified the rate of preterm birth for each ethnic group at each level of deprivation.

Results
We identified 1,111,045 livebirths between April 2018 and March 2021. The rate of preterm birth increased with socioeconomic deprivation and was highest at 7.1% per 100 livebirths (95%CI:7.00-7.20) in women living in the 20% most deprived areas, compared to 5.6% (95%CI:5.50-5.74) in women in the 20% least deprived areas. White women had the lowest preterm birth rate at 6.5% (95%CI:6.47-6.58) and South Asian women had the highest rate at 6.9% (95%CI:6.76-7.04) (Table 2). The rate of preterm birth increased according to increased area-level deprivation across all ethnic groups. In areas of high deprivation, the preterm birth rate was similar across ethnic groups. Whereas in less deprived areas, there were marked inequalities between ethnic groups.

Conclusions
Inequalities in preterm birth remain, despite overall decreases in preterm birth. We found area deprivation and individual ethnicity interact to increase the risk of preterm birth in marginalized communities. Interventions need to holistically consider the structural and socioenvironmental determinants of preterm birth.

Key messages
• Area deprivation and ethnicity remain key drivers of inequalities in preterm birth, despite overall decreases in preterm birth.
• To reduce inequalities tailored prevention strategies are needed to address socioenvironmental and structural determinants of preterm birth in high deprivation areas and minoritized ethnicity groups.
Physical fitness in youth: a systematic review of changes during and after the COVID-19 pandemic
Authors: Ludwig-Walz H , Heinisch S , Siemens W , Niessner C , Eberhardt T , Dannheim I , Bös K , Bujard M 
Published: October 2024

Abstract

Background
Restrictions during the COVID-19 pandemic induced changes in the fitness behavior of children and adolescents, which may be associated with long-term public health challenges. This systematic review analyses how physical fitness has changed during the pandemic and to what extent the changes remain in the aftermath of the pandemic.

Methods
We conducted a systematic search in seven databases with a peer-reviewed search string for studies until Dec 2023. Our inclusion criteria encompassed studies with children and adolescents ≤19 years living in the WHO European Region and in which validated measurements were used (single measurements or test batteries). Eligibility screening, data extraction and risk of bias assessment (using ROBINS-E instrument) were all carried out independently by two reviewers. We published an a priori protocol in a peer-review journal and conducted reporting in accordance with the PRISMA 2020 statement. Trial registration: PROSPERO: CRD42023395871.

Results
Our search retrieved 28 studies from 15 WHO European Region countries with an age range from 5 to 19 years. Physical fitness was reported in 21 validated single measurements (e.g. 20 m shuttle run, handgrip strength, standing long jump) and 9 validated test batteries (e.g. Alpha-Fitness Battery, German Motor Test, International Physical Performance Test Profile). The preliminary analyses pointed to a sharp decline in youth physical fitness during the COVID-19 pandemic. After restrictions were eased, physical fitness improved, but remained under pre-pandemic levels, particularly in boys.

Conclusions
The findings indicate a potential suboptimal behavioral adaptation of children and adolescents after the COVID-19 pandemic. Medium and long-term programs to change passive behavior and improve physical fitness are urgently needed. In addition to individual prevention programs, stronger consideration should also be given to schools and sport clubs regarding activities promoting physical fitness.

Key messages
• Physical fitness in children and adolescents remains below pre-pandemic levels after restrictions removal.
• Initiating immediate public health action to increase physical fitness is urgently needed.
Online Forum Conversations on Abortion in Poland: Navigating Medical, Emotional, and Legal Challenges
Authors: Klimiuk K B , Kot A , Balwicki Ł 
Published: October 2024

Abstract

Background
Abortion is a common medical procedure worldwide, but access is restricted in Poland, forcing many women to seek abortions without medical supervision. This can lead to health risks and reflects broader challenges regarding reproductive rights and healthcare.

Methods
We conducted a qualitative and quantitative analysis of online forums discussing abortion to understand the challenges faced by women in Poland. Data was gathered from popular abortion forums identified through Google searches, with a pilot study refining the research focus.

Results
A total of 13,397 responses from 370 threads across 4 forums were analyzed. The most prevalent theme was the ‘Abortion Process Progression,’ indicating a strong need for information and support. Discussions on ‘Emotional and Psychological Aspects’ and ‘Medical and Pharmacological Aspects’ highlighted the need for holistic care. This suggests that legal restrictions and fear of repercussions hinder women’s access to professional assistance, exacerbating health disparities and inequalities.

Conclusions
This study offers a general look at the abortion experiences of Polish women, revealing challenges that often go unnoticed by policymakers and healthcare professionals. By analyzing online forums, it uncovers nuanced issues such as the lack of access to medical supervision, information gaps, and emotional support, highlighting discrepancies between policy and needs. The findings call for decriminalizing abortion, launching educational campaigns to combat misinformation, and strengthening support systems, aligning Poland’s reproductive health services with European Union standards, ensuring women’s access to safe and supportive healthcare.

Key messages
• This study shows how Poland’s restrictive abortion laws push women to online forums, revealing medical, emotional, and logistical challenges, emphasizing the need for care and accurate information.
• The research highlights the need for decriminalizing abortion, addressing misinformation, and support Poland’s reproductive health services with EU standards, ensuring safer care for women.