Arrojan luz sobre etiología de hepatitis desconocida en niños

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El brote de hepatitis infantil inexplicada que afectó a más de mil niños en todo el mundo tiene una causa probable: el ADN del virus 2 adenoasociado (AAV2) ha sido encontrado en el hígado, la sangre, el plasma y las heces de 27 niños en Reino Unido. Lea el reporte en Morfopoulou S, Buddle S, Torres OE, Atkinson L, Guerra-Assunção JA, Moradi M, et al. Genomic investigations of unexplained acute hepatitis in children.  Nature, 2023; https://doi.org/10.1038/s41586-023-06003-w.

Filed under Diagnóstico, Genómica, Patógenos by on . Comment. #

Diagnóstico genómico de enfermedades raras

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– Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
– Diagnostics for rare diseases
– Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
– Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Filed under Algoritmos, Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . Comment. #

Recomendaciones sobre riesgos genómico y poligénico

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– Returning integrated genomic risk and clinical recommendations: The eMERGE study
– The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
– Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Filed under Diagnóstico, Polimorfismos, Publicaciones by on . Comment. #

Medicina de precisión: actualidad, oncología, diabetes mellitus tipo 1, tecnologías

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– Genomics in Clinical Practice
– Personalized medicine is having its day
– Genomic–transcriptomic evolution in lung cancer and metastasis
– Genomic profiling to expand precision cancer medicine in the real world: The ROME trial
– On the gene expression landscape of cancer
– Precision Medicine in Type 1 Diabetes
– 2023 Watch List: Top 10 Precision Medicine Technologies and Issues

Filed under Cáncer, Genómica, Medicina personalizada, Transcriptómica by on . Comment. #

Farmacogenética: aspirina, esquizofrenia, farmacomicrobiómica, ansiedad, antidepresivos

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– Impact of pharmacogenetics on aspirin resistance: a systematic review
– The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
– Integration of pharmacogenomic and pharmacomicrobiomic data for personalized medicine
– Towards precision medicine for anxiety disorders: objective assessment, risk prediction, pharmacogenomics, and repurposed drugs
– Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

Filed under Farmacogenómica, Medicina personalizada, Microbioma, Polimorfismos, Tratamientos by on . Comment. #

Ómicas en diagnóstico: cáncer, diabetes, pediatría, insuficiencia ovárica, cardiología

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– Blood-Based mRNA Tests as Emerging Diagnostic Tools for Personalised Medicine in Breast Cancer
– Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
– The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
– Systematic assessment of prognostic molecular features across cancers
– Landscape of pathogenic mutations in premature ovarian insufficiency
– Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children’s Oncology Group
– Exome/Genome Sequencing in Undiagnosed Syndromes
– Precision Medicine and the future of Cardiovascular Diseases: A Clinically Oriented Comprehensive Review

Filed under Cáncer, Cardiopatías, Diagnóstico by on . Comment. #

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