Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.

Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.

Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.

Pancreaticobiliary Maljunction and Its Relationship with Biliary Cancer: An Updated and Comprehensive Systematic Review and Meta-Analysis on Behalf of TROGSS-The Robotic Global Surgical Society.

Objective: This systematic review and meta-analysis aimed to determine the degree to which pancreaticobiliary maljunction (PBM) increases the risk of different types of biliary cancer (BC).

Methods: A systematic review and meta-analysis were carried out using the following databases: PubMed, Embase, Cochrane Library, Scopus, Web of Science, and Science Direct. We systematically searched from inception to April 2024.

Lessons learned from the COVID-19 pandemic: identifying hesitant groups and exploring reasons for vaccination hesitancy, from adolescence to late adulthood.

Introduction: The COVID-19 (COronaVIrus Disease-2019) pandemic highlighted the importance of assessing the rationales behind vaccine hesitancy for the containment of pandemics. In this nationwide study, representative of the Luxembourgish population, we identified hesitant groups from adolescence to late adulthood and explored motivations both for and against vaccination.

Methods: We combined data collected via online surveys for the CON-VINCE (COvid-19 National survey for assessing VIral spread by Non-affected CarriErs) study, 1865 respondents aged 18-84, and for the YAC (Young people And Covid-19) study, 3740 respondents aged 12-29.

Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?

Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.

Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.

Park7 deletion leads to sex-specific transcriptome changes involving NRF2-CYP1B1 axis in mouse midbrain astrocytes.

Loss-of-function mutations in PARK7, encoding for DJ-1, can lead to early onset Parkinson's disease (PD). In mice, Park7 deletion leads to dopaminergic deficits during aging, and increased sensitivity to oxidative stress. However, the severity of the reported phenotypes varies.

Readiness of adults with type 1 diabetes and diabetes caregivers for diabetes distress monitoring using a voice-based digital health solution: insights from the PsyVoice mixed methods study.

Objectives: Diabetes distress can negatively affect the well-being of individuals with type 1 diabetes (T1D). Voice-based (VB) technology can be used to develop inexpensive and ecological tools for managing diabetes distress. This study explored the competencies to engage with digital health services, needs and preferences of individuals with T1D or caring for a child with this condition regarding VB technology to inform the tailoring of a co-designed tool for supporting diabetes distress management.

Profile and Usefulness of Serum Cytokines to Predict Prognosis in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.

Sport-specific differences in ACL injury, treatment and return to sports: Basketball.

Basketball is an intense, fast-paced game that is physically, highly demanding. Certain aspects of the game, such as the quick pivoting and cutting movements, predispose the players to serious knee injuries, including anterior cruciate ligament (ACL) tears. While an ACL tear can be a devastating condition for players, multidisciplinary management of the injury can provide the players with a reasonable chance to return to play at the pre-injury level.

High specificity of an AI-powered framework in cross-checking male professional football anterior cruciate ligament tear reports in public databases.

Purpose: While public databases like Transfermarkt provide valuable data for assessing the impact of anterior cruciate ligament (ACL) injuries in professional footballers, they require robust verification methods due to accuracy concerns. We hypothesised that an artificial intelligence (AI)-powered framework could cross-check ACL tear-related information from large publicly available data sets with high specificity.

Methods: The AI-powered framework uses Google Programmable Search Engine to search a curated, multilingual list of websites and OpenAI's GPT to translate search queries, appraise search results and analyse injury-related information in search result items (SRIs).

Acute and chronic effects of inspiratory muscle training in patients with type 2 diabetes mellitus: a systematic review of randomized controlled trials.

Objectives: To conduct a systematic review to determine the acute and chronic effects of inspiratory muscle training (IMT) in type 2 diabetes mellitus (T2DM) patients on cardiac autonomic function, glucose variability, inspiratory muscle strength and endurance, hemodynamic variables, and exercise capacity.

Methods: A search was carried out according to a specific search strategy, following the PRISMA statement, and three independent reviewers have undertaken the article selection process. Searches were carried out in June 2023, on the following electronic databases: EMBASE, MEDLINE (PubMed), SCOPUS (Elsevier), and Web of Science.

Clinical outcomes from robotic transabdominal preperitoneal inguinal hernia repair in patients under and over 70 years old: a single institution retrospective cohort study with a comprehensive systematic review on behalf of TROGSS - The Robotic Global Surgical Society.

Aim: This study aimed to assess and compare outcomes of robotic inguinal hernia repair (RIHR) in patients under and over 70 years old, performed by a fellowship-trained robotic surgeon at a single institution.

Methods: A retrospective analysis of patients undergoing robotic primary transabdominal preperitoneal inguinal hernia repair between 2020 and 2022 was conducted. Patients were categorized into two age groups: those under 70 years and 70 years and older.

Immune checkpoint inhibitors-associated vasculitis: a heterogeneous condition with possible severe disease course.

Objective: To describe presentation, treatment and outcome of immune checkpoint inhibitor (ICI) associated-vasculitis in cancer patients in a multicentre study.

Methods: Thanks to the ImmunoCancer International Registry (ICIR), a multidisciplinary network focused on the research of the immune related adverse events related to cancer immunotherapies, patients presenting with a clinical and/or radiological suspicion of vasculitis, and histological evidence of vasculitis after being exposed to ICIs were retrospectively identified.

Results: Twenty eight cases were identified in the ICIR registry.

Patient perspectives on the use of digital medical devices and health data for AI-driven personalised medicine in Parkinson's Disease.

Introduction: Parkinson's Disease (PD) affects around 8.5 million people currently with numbers expected to rise to 12 million by 2040. PD is characterized by fluctuating motor and non-motor symptoms demanding accurate monitoring.

Towards standardization of person-reported outcomes (PROs) in pediatric diabetes research: A consensus report.

Background: Diabetes ranks among the most common chronic conditions in childhood and adolescence. It is unique among chronic conditions, in that clinical outcomes are intimately tied to how the child or adolescent living with diabetes and their parents or carers react to and implement good clinical practice guidance. It is widely recognized that the individual's perspective about the impact of trying to manage the disease together with the burden of self-management should be addressed to achieve optimal health outcomes.

Impact of molecular diagnostics and targeted cancer therapy on patient outcomes (MODIFY): a retrospective study of the implementation of precision oncology.

High-throughput genomic analyses are being implemented in clinical practice. MODIFY is a retrospective study of the first introduction of genomic profiling and molecular tumor boards in the country of Luxembourg. The primary objective was to assess whether patients derived a clinical benefit by measuring the percentage of patients who presented a progression-free survival (PFS) on matched therapy (PFS2) 1.

Facilitating comprehensive child health monitoring within REDCap - an open-source code for real-time Z-score assessments.

Background: Monitoring of somatic development through the assessment of anthropometric variables such as weight, height, and BMI is vital for evaluating the physical development and nutritional status of children. This approach aids in the early identification of somatic developmental disorders, enabling timely medical interventions. It traditionally relies on Z-scores, which compare anthropometric variables with reference standards.

Treatment regimens and glycaemic outcomes in more than 100 000 children with type 1 diabetes (2013-22): a longitudinal analysis of data from paediatric diabetes registries.

Background: Advances in paediatric type 1 diabetes management and increased use of diabetes technology have led to improvements in glycaemia, reduced risk of severe hypoglycaemia, and improved quality of life. Since 1993, progressively lower HbA targets have been set. The aim of this study was to perform a longitudinal analysis of HbA, treatment regimens, and acute complications between 2013 and 2022 using data from eight national and one international paediatric diabetes registries.

Multiomics approaches disclose very-early molecular and cellular switches during insect-venom allergen-specific immunotherapy: an observational study.

Allergen-specific immunotherapy (AIT) induces immune tolerance, showing the highest success rate (>95%) for insect venom while a much lower chance for pollen allergy. However, the molecular switches leading to successful durable tolerance restoration remain elusive. The primary outcome of this observational study is the comprehensive immunological cellular characterization during the AIT initiation phase, whereas the secondary outcomes are the serological and Th2-cell-type-specific transcriptomic analyses.

Effects of Respiratory Muscle Training Pre- and Post-Cardiac Surgery in Adults: A Scoping Review.

Background: Coronary artery bypass grafts (CABGs) and cardiac valve replacement surgeries (CVRSs) are common lifesaving cardiac surgeries. They are linked to an increased risk of postoperative pulmonary complications (PPCs). This review scopes the effects of inspiratory muscle training (IMT) on adult patients, considering mainly exercise capacity, lung function, and the occurrence of PPCs.

Global collaborative research in metabolic and bariatric surgery (GCRMBS): current status and directions for the future.

Obesity has been recognized as a chronic disorder by the World Health Organisation (WHO) and was first reported in the Paleolithic age. In the recent years there has not been an international collaborative that facilitates professional cooperation on a worldwide level to increase the output of high-level evidence in the fields of obesity treatment and metabolic and bariatric surgery (MBS). In other surgical and medical fields, international collaborative research networks have shown to increase the quality and amount of treatment-changing evidence.

Does free tendon length influence the injury risk of the Achilles tendon? A finite element study.

Purpose: The Achilles tendon is a common injury site, but anatomical risk factors for injury are relatively unexplored in the literature. This study aimed to evaluate whether changes in free tendon length would influence the results of a simulated rupture of the Achilles tendon.

Methods: Using a previously validated 3D finite element model of the free and aponeurotic Achilles tendon as a basis, two additional finite element models with 25% decreased and increased free tendon lengths were created.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

Leveraging digital twins for improved orthopaedic evaluation and treatment.

Purpose: The purpose of this article is to explore the potential of digital twin technologies in orthopaedics and to evaluate how their integration with artificial intelligence (AI) and deep learning (DL) can improve orthopaedic evaluation and treatment. This review addresses key applications of digital twins, including surgical planning, patient-specific outcome prediction, augmented reality-assisted surgery and simulation-based surgical training.

Methods: Existing studies on digital twins in various domains, including engineering, biomedical and orthopaedics are reviewed.