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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
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Experts say Found’s story highlights the extraordinary complexity of the problem for pregnant people living with SCD – and the critical importance of receiving proper, specialized care as early as possible. This is especially true now that medical advances in care and disease-modifying therapies have helped many people living with SCD survive well through their reproductive years. For parents-to-be, that means awareness is key. Individuals with SCD are at higher risk than the general population for preeclampsia, as Found discovered; but those with preeclampsia can go on to develop a condition called eclampsia, which can lead to seizures and even coma. People with SCD are also at higher risk for sepsis and blood clots. And there are risks for the fetus, such as lower-than-normal growth in the womb, preterm delivery, and stillbirth.
K Miller, Self, September 2023
Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result.
María Sanz Fernández et al. Horm Metab Res 2023
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Direct-from-Blood Detection of Pathogens: a Review of Technology and Challenges.
Linoj Samuel et al. J Clin Microbiol 2023 e0023121
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Comparison of pathogen detection consistency between metagenomic next-generation sequencing and blood culture in patients with suspected bloodstream infection.
Yuhua Zhou et al. Sci Rep 2023 13(1) 9460
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Assessing the performance of genetic risk score for stratifying risk of post-sepsis cardiovascular complications.
Brian McElligott et al. Frontiers in cardiovascular medicine 2023 101076745
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Increasing serum iron levels and their role in the risk of infectious diseases: a Mendelian randomization approach.
Guillaume Butler-Laporte et al. International journal of epidemiology 2023
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Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A mendelian randomisation study.
Fergus W Hamilton et al. PLoS medicine 2023 20(1) e1004174
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Association between APOL1 risk variants and progression from infection to sepsis
L Jiang et al, MEDRXIV, January 28, 2023
A Culture of [Blood] Cultures Why hasn't rapid sequencing for serious infections and sepsis become standard of care?
E Topol, Ground Truths, December 17, 2022
Sepsis as a Challenge for Personalized Medicine
R Zahorek et al, J Per Med, December 1, 2022
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.
Lanfranconi Silvia et al. The Lancet. Neurology 2022
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An immune dysfunction score for stratification of patients with acute infection based on whole-blood gene expression.
Cano-Gamez Eddie et al. Science translational medicine 2022 14(669) eabq4433
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A Scoping Review of the Transcriptomic Perspective of Sepsis, a Move Towards Improved Precision Medicine?
A Rashid et al, MEDRXIV, November 2, 2022
Combining pathogen and host metagenomics for a better sepsis diagnostic.
Gant Vanya et al. Nature microbiology 2022 7(11) 1713-1714
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Integrated host-microbe plasma metagenomics for sepsis diagnosis in a prospective cohort of critically ill adults.
Kalantar Katrina L et al. Nature microbiology 2022
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A culture-free biphasic approach for sensitive and rapid detection of pathogens in dried whole-blood matrix.
Ganguli Anurup et al. Proceedings of the National Academy of Sciences of the United States of America 2022 119(40) e2209607119
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Multi-omic comparative analysis of COVID-19 and bacterial sepsis-induced ARDS
R Batra et al, MEDRXIV, August 13, 2022
Evaluation of a Multivalent Transcriptomic Metric for Diagnosing Surgical Sepsis and Estimating Mortality Among Critically Ill Patients
SC Brakenridge et al, JAMA Network Open, July 12, 2022
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.
McDermott John H et al. JAMA pediatrics 2022
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Palbociclib in Patients With Non-Small-Cell Lung Cancer With CDKN2A Alterations: Results From the Targeted Agent and Profiling Utilization Registry Study.
Ahn Eugene R et al. JCO precision oncology 2022 4757-766
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Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan Su-Wan Bianca et al. Frontiers in immunology 2022 12794221
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CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
Bauss Jacob et al. Frontiers in immunology 2021 12790041
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SARS-CoV-2 RNAemia and proteomic trajectories inform prognostication in COVID-19 patients admitted to intensive care
S Gutmann et al, Nature Comms, June 7, 2021
Feasibility of Embedding a Scalable, Virtually Enabled Biorepository in the Electronic Health Record for Precision Medicine.
DeMerle Kimberley M et al. JAMA network open 2021 4(2) e2037739
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Feasibility of Embedding a Scalable, Virtually Enabled Biorepository in the Electronic Health Record for Precision Medicine
KM De Merle et al, JAMA Network Open, February 21,2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze Ulrike et al. Journal of inherited metabolic disease 2021 Jan
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Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.
Sadik Ilham et al. International journal of neonatal screening 2019 Sep 5(3) 32
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The Direct and Indirect Impact of SARS-CoV-2 Infections on Neonates: A Series of 26 Cases in Bangladesh.
Saha Senjuti et al. The Pediatric infectious disease journal 2020 Oct
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Successful implementation of genomically based treatment of chemotherapy refractory peripheral T-cell lymphoma (PTCL).
Galanina Natalie et al. Cancer biology & therapy 2019 20(3) 247-251
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Genetic testing in the acute setting: a round table discussion.
McDermott John Henry et al. Journal of medical ethics 2020 Jul
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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