Polymorphisms of the GCLC Gene Are Novel Genetic Markers for Susceptibility to Psoriasis Associated with Alcohol Abuse and Cigarette Smoking DOI Creative Commons
Ekaterina Efanova, Olga Bushueva,

Roman Saranyuk

et al.

Life, Journal Year: 2023, Volume and Issue: 13(6), P. 1316 - 1316

Published: June 2, 2023

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding catalytic subunit glutamate cysteine ligase (GCLC) are associated with risk and clinical features psoriasis. A total 944 unrelated individuals, including 474 patients a diagnosis psoriasis 470 healthy controls, were recruited for study. Six common SNPs GCLC genotyped using MassArray-4 system. Polymorphisms rs648595 (OR = 0.56, 95% CI 0.35-0.90; Pperm 0.017) rs2397147 0.54, 0.30-0.98; 0.05) susceptibility males. In male group, diplotype rs2397147-C/C × rs17883901-G/G decreased (FDR-adjusted p 0.014), whereas rs6933870-G/G 0.045) showed an association increased disease females. joint effects tobacco smoking (rs648595 rs17883901) alcohol abuse rs542914) on observed (Pperm ≤ 0.05). We also found multiple sex-independent associations between various such as earlier onset, psoriatic triad, specific localizations skin lesions. present is first show that significantly related its features.

Language: Английский

Lung-function trajectories: relevance and implementation in clinical practice DOI
Erik Melén, Rosa Faner, James P. Allinson

et al.

The Lancet, Journal Year: 2024, Volume and Issue: 403(10435), P. 1494 - 1503

Published: March 12, 2024

Language: Английский

Citations

44

Shaping the Future of Cardiac Wellness: Exploring Revolutionary Approaches in Disease Management and Prevention DOI Creative Commons

Tamer A. Addissouky,

Ibrahim El Tantawy El Sayed,

Majeed M. A. Ali

et al.

Journal of Clinical Cardiology, Journal Year: 2024, Volume and Issue: 5(1), P. 6 - 29

Published: Jan. 5, 2024

Cardiovascular diseases (CVDs) remain a leading cause of morbidity and mortality worldwide. Effective prevention management strategies are essential to reduce the burden CVDs. This review summarizes recent advances in In terms prevention, lifestyle modifications, such as diet, exercise, smoking cessation, important strategies. Pharmacological interventions, including statins, antiplatelet agents, antihypertensive medications, have also shown benefits. Innovative approaches, genetic testing risk stratification, targeted strategies, use mobile health technology, being explored. management, acute reperfusion therapy for myocardial infarction, heart failure stroke improved outcomes. Chronic medical failure, arrhythmia device precision medicine personalized treatment, artificial intelligence diagnosis traditional Chinese regenerative medicine, investigated. While CVDs promising, challenges implementing these cost-effectiveness, access care, resistance change clinical practice. Continued research innovation improve patient

Language: Английский

Citations

24

Phenotyping to predict 12-month health outcomes of older general medicine patients DOI Creative Commons
Richard Woodman,

Kimberly Bryant,

Michael J. Sorich

et al.

Aging Clinical and Experimental Research, Journal Year: 2025, Volume and Issue: 37(1)

Published: Feb. 22, 2025

Abstract Background A variety of unsupervised learning algorithms have been used to phenotype older patients, enabling directed care and personalised treatment plans. However, the ability clusters accurately discriminate for risk may vary depending on methods employed. Aims To compare seven clustering in their develop patient phenotypes that predict health outcomes. Methods Data was collected N = 737 medical inpatients during hospital stay five different types data (ICD-10 codes, ATC drug laboratory, clinic frailty data). We trialled (K-means, K-modes, hierarchical clustering, latent class analysis (LCA), DBSCAN) two graph-based approaches create separate each method datatype. These were as input a random forest classifier eleven outcomes: mortality at one, three, six 12 months, in-hospital falls delirium, length-of-stay, outpatient visits, readmissions three months. Results The overall median area-under-the-curve (AUC) across outcomes (from highest lowest) 0.758 (hierarchical), 0.739 (K-means), 0.722 (KG-Louvain), 0.704 (KNN-Louvain), 0.698 0.694 (DBSCAN) 0.656 (K-modes). Overall, most important type predicting mortality, ICD-10 disease codes readmissions, laboratory falls. Conclusions Clusters created using hierarchical, K-means Louvain community detection identified well-separated consistently associated with age-related adverse Frailty valuable

Language: Английский

Citations

2

Implementation of precision medicine in healthcare—A European perspective DOI Creative Commons
Albrecht Stenzinger,

Ejner K. Moltzen,

Eva C. Winkler

et al.

Journal of Internal Medicine, Journal Year: 2023, Volume and Issue: 294(4), P. 437 - 454

Published: July 17, 2023

The technical development of high-throughput sequencing technologies and the parallel targeted therapies in last decade have enabled a transition from traditional medicine to personalized treatment care. In this way, by using comprehensive genomic testing, more effective treatments with fewer side effects are provided each patient-that is, precision or (PM). several European countries-such as England, France, Denmark, Spain-the governments adopted national strategies taken "top-down" decisions invest infrastructure for PM. other Sweden, Germany, Italy regionally organized healthcare systems-the profession has instead "bottom-up" initiatives build competence networks enable equal access review, we summarize key learnings at level on implementation process establish sustainable governance organization PM regional, national, EU/international levels. We also discuss critical ethical legal aspects implementing PM, importance real-world data performing clinical trials evidence generation, well need improved reimbursement models, increased cross-disciplinary education patient involvement. summary, represents paradigm shift, modernization all relevant stakeholders-that healthcare, academia, policymakers, industry, patients-must be involved system transformation create sustainable, non-siloed ecosystem that benefits our patients society large.

Language: Английский

Citations

36

How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry DOI Creative Commons
Elise Koch, Antonio F. Pardiñas, Kevin S. O’Connell

et al.

Biological Psychiatry, Journal Year: 2024, Volume and Issue: 96(7), P. 543 - 551

Published: Jan. 5, 2024

Precision medicine has the ambition to improve treatment response and clinical outcomes through patient stratification, holds great potential in mental disorders. However, several important factors are needed transform current practice into a "precision psychiatry" framework. Most (1) generation of accessible large real-world training test data including genomic integrated from multiple sources, (2) development validation advanced analytical tools for stratification prediction, (3) clinically useful management platforms monitoring that can be healthcare systems real-life settings. This narrative review summarizes strategies obtaining key elements – well-powered samples biobanks, with electronic health records registry using novel artificial intelligence algorithms predict severe disorders translate these models approaches. Key massive algorithms. For translation strategies, we discuss precision platform improved We include use cases illustrate how interventions could brought psychiatry

Language: Английский

Citations

15

Comorbidity patterns and mortality in atrial fibrillation: a latent class analysis of the EURopean study of Older Subjects with Atrial Fibrillation (EUROSAF) DOI Creative Commons
Huah Shin Ng, Richard Woodman, Nicola Veronese

et al.

Annals of Medicine, Journal Year: 2025, Volume and Issue: 57(1)

Published: Jan. 18, 2025

Background Most older patients with atrial fibrillation (AF) have comorbidities. However, it is unclear whether specific comorbidity patterns are associated adverse outcomes. We identified and their association mortality in multimorbid AF different multidimensional frailty.

Language: Английский

Citations

1

Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores DOI
Lara Andreoli, Hilde Peeters, Kristel Van Steen

et al.

American Journal of Medical Genetics Part A, Journal Year: 2024, Volume and Issue: 194(7)

Published: March 7, 2024

Debates about the prospective clinical use of polygenic risk scores (PRS) have grown considerably in last years. The potential benefits PRS to improve patient care at individual and population levels been extensively underlined. Nonetheless, contexts presents a number unresolved ethical challenges consequent normative gaps that hinder their optimal implementation. Here, we conducted systematic review reasons literature discussing issues moral arguments related for prevention treatment common complex diseases. In total, included analyzed 34 records, spanning from 2013 2023. findings organized three major themes: first theme, consider harms individuals kin. theme "Threats health equity," concerns social relevance, with focus on justice issues. Finally, "Towards best practices" collects series research priorities provisional recommendations be considered an translation PRS. We conclude reinvigorates old debates matters justice; however, open questions, regarding practices counseling, suggest considerations applicable monogenic settings will not sufficient face emerging challenges.

Language: Английский

Citations

7

Organoids‐On‐a‐Chip for Personalized Precision Medicine DOI Open Access

Yunqi Man,

Yanfei Liu, Qi‐Wen Chen

et al.

Advanced Healthcare Materials, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 13, 2024

Abstract The development of personalized precision medicine has become a pivotal focus in modern healthcare. Organoids‐on‐a‐Chip (OoCs), groundbreaking fusion organoid culture and microfluidic chip technology, emerged as promising approach to advancing patient‐specific treatment strategies. In this review, the diverse applications OoCs are explored, particularly their role medicine, potential cutting‐edge technology is highlighted. By utilizing patient‐derived organoids, offer pathway optimize treatments, create precise disease models, investigate mechanisms, conduct drug screenings, individualize therapeutic emphasis on significance technological revolutionizing healthcare improving patient outcomes. Furthermore, transformative future prospects, ongoing advancements field, with genomic multi‐omics integration, ethical frameworks discussed. convergence these innovations can empower patients, redefine approaches, shape

Language: Английский

Citations

7

Omics and Multi-Omics in IBD: No Integration, No Breakthroughs DOI Open Access
Claudio Fiocchi

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(19), P. 14912 - 14912

Published: Oct. 5, 2023

The recent advent of sophisticated technologies like sequencing and mass spectroscopy platforms combined with artificial intelligence-powered analytic tools has initiated a new era "big data" research in various complex diseases still-undetermined cause mechanisms. investigation these was, until recently, limited to traditional vitro vivo biological experimentation, but clear switch silico methodologies is now under way. This review tries provide comprehensive assessment state-of-the-art knowledge on omes, omics multi-omics inflammatory bowel disease (IBD). notion importance both health IBD introduced, followed by discussion the believed be relevant pathogenesis, how can generate insights translatable into useful clinical such as biomarker identification, prediction remission relapse, response therapy, precision medicine. pitfalls limitations current studies are critically analyzed, revealing that, regardless types omes being majority reports still based simple associations descriptive retrospective data from cross-sectional patient cohorts rather than more powerful longitudinally collected prospective datasets. Given this limitation, some suggestions provided may optimized for greater therapeutic benefit. concludes forecasting upcoming incorporation analyses routine management IBD.

Language: Английский

Citations

15

Transfer learning-based disease prognosis in Biomedicine 4.0: Challenges and opportunities DOI

Senthil Kumar Jagatheesaperumal,

Sivasankar Ganesan

Elsevier eBooks, Journal Year: 2025, Volume and Issue: unknown, P. 165 - 178

Published: Jan. 1, 2025

Language: Английский

Citations

0