Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
Cost minimization analysis of digital-first healthcare pathways in primary care
In our study setting common minor acute primary care episodes initiated via a digital-first pathway were associated with…
Incident arrhythmias in relation to ventilatory parameters and pulmonary disease: evidence from two prospective cohort studies | BMC Medicine
Study population The study included subjects from two cohorts, the ARIC (Atherosclerosis Risk in Communities) and the CHS…
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services | Orphanet Journal of Rare Diseases
Participant demographics Eighteen participants completed the PAS and IIQ surveys and participated in interviews. Table 1 lists participant…
Peer perceptions of clinicians using generative AI in medical decision-making
A total of 276 clinicians participated in the study, including 178 physicians, 28 fellows/residents, 60 advanced practice providers…
Functional and internalizing disorders co-aggregate with cardiometabolic and immune-related diseases within families: a population-based cohort study | BMC Medicine
Study population We analysed data from Lifelines, which is a multi-disciplinary prospective population-based cohort study examining in a…
Association of SARS-CoV-2 vaccination status with risk of influenza-like illness and loss of workdays in healthcare workers
Setting and participants In our prospective multicentre HCW cohort, participants were recruited from nine healthcare networks in Northern…
Artificial intelligence-enhanced echocardiography in cardiovascular disease management
Lang, R. M. et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the…
Digital twins and Big AI: the future of truly individualised healthcare
Foundational Research Gaps and Future Directions for Digital Twins | National Academies. https://www.nationalacademies.org/our-work/foundational-research-gaps-and-future-directions-for-digital-twins. Coveney, P. V. & Highfield…
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
A consensus statement on the use of digital twins in medicine
The DT is a generic instrument able to integrate different technologies applicable across the disease (and indeed health)…
Clinical and economic impact of a large language model in perioperative medicine: a randomized crossover trial
Study design We conducted a prospective, randomized crossover trial to evaluate the real-world clinical impact of PEACH in…