Machine learning in cardiovascular risk assessment: Towards a precision medicine approach

European Journal of Clinical Investigation, Journal Year: 2025, Volume and Issue: 55(S1)

Published: April 1, 2025

Abstract Cardiovascular diseases remain the leading cause of global morbidity and mortality. Validated risk scores are basis guideline‐recommended care, but most lack capacity to integrate complex multidimensional data. Limitations inherent traditional prediction models growing burden residual cardiovascular highlight need for refined strategies that go beyond conventional paradigms. Artificial intelligence machine learning (ML) provide unique opportunities refine assessment surveillance through integration diverse data types sources, including clinical, electrocardiographic, imaging multi‐omics derived In fact, ML models, such as deep neural networks, can handle high‐dimensional which phenotyping across patient populations become much more precise, fostering a paradigm shift towards personalized care. Here, we review role in advancing discuss its potential identify novel therapeutic targets improve prevention strategies. We also key challenges ML, quality, standardized reporting, model transparency validation, barriers clinical translation. transformative precision cardiology advocate previous notions.

Language: Английский

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Orally Administered Drugs and Their Complicated Relationship with Our Gastrointestinal Tract

Microorganisms, Journal Year: 2024, Volume and Issue: 12(2), P. 242 - 242

Published: Jan. 24, 2024

Orally administered compounds represent the great majority of all pharmaceutical produced for human use and are most popular among patients since they practical easy to self-administer. Following ingestion, orally drugs begin a “perilous” journey down gastrointestinal tract their bioavailability is modulated by numerous factors. The (GI) anatomy can modulate drug accounts interpatient response heterogeneity. Furthermore, host genetics contributor modulation. Importantly, component GI that has been gaining notoriety with regard treatment interactions gut microbiota, which shares two-way interaction in be influenced able influence drugs. Overall, patient-friendly option. However, during tract, there factors patient-specific manner.

Language: Английский

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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Genes, Journal Year: 2024, Volume and Issue: 15(5), P. 619 - 619

Published: May 14, 2024

The case report by Mabry et al. (1970) of a family with four children elevated tissue non-specific alkaline phosphatase, seizures and profound developmental disability, became the basis for phenotyping features that known as syndrome. Aside from improvements in services available to patients families, however, diagnosis treatment this, many other disabilities, did not change significantly until advent massively parallel sequencing. As more syndrome were identified, exome genome sequencing used identify glycophosphatidylinositol (GPI) biosynthesis disorders (GPIBDs) group congenital glycosylation (CDG). Biallelic variants phosphatidylinositol glycan (PIG) biosynthesis, type V (PIGV) gene identified evidence first phenotypic series is numbered HPMRS1-6 order discovery. HPMRS1 [MIM: 239300] phenotype resulting inheritance biallelic PIGV variants. Similarly, HPMRS2 (MIM 614749), HPMRS5 616025) HPMRS6 616809) result disruption PIGO, PIGW PIGY genes expressed endoplasmic reticulum. By contrast, HPMRS3 614207) HPMRS4 615716) post attachment proteins PGAP2 (HPMRS3) PGAP3 (HPMRS4). GPI are currently GPIBD1-21. Working Dr. Mabry, 2020, we able use improved laboratory diagnostics complete molecular he had originally described 1970. We reported HPMRS patients. discuss longevity index context utility pyridoxine putative glycolipid storage HPMRS3. From perspective innovations made enabled identification Mabry’s patients, need will benefit families affected disabilities clear.

Language: Английский

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Enhancing breast cancer treatment through pharmacogenomics: A narrative review

Clinica Chimica Acta, Journal Year: 2024, Volume and Issue: 562, P. 119893 - 119893

Published: July 26, 2024

Language: Английский

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Machine learning in oncological pharmacogenomics: advancing personalized chemotherapy

Functional & Integrative Genomics, Journal Year: 2024, Volume and Issue: 24(5)

Published: Oct. 1, 2024

Language: Английский

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