Review of Precision Medicine and Diagnosis of Neonatal Illness

被引：0
作者：
Elmeneza, Safaa [1 ]
Agaba, Naglaa [1 ]
Fawaz, Rasha Abd El Samad [1 ]
Abd Elgawad, Salwa Samir [1 ]
机构：
[1] Al Azhar Univ, Fac Med Girls, Pediat Dept, Cairo 11651, Egypt
来源：
DIAGNOSTICS | 2025年 / 15卷 / 04期
关键词：
precision medicine; neonatal brain injury; neonatal hemodynamics; neonatal RDS; neonatal sepsis; hyperbilirubinemia; AKI; BPD; pharmacokinetics; NICU; ELECTROGRAPHIC SEIZURE BURDEN; DEVELOPMENTAL PHARMACOKINETICS; INTEGRATED EVALUATION; SURFACTANT FUNCTION; PRETERM INFANTS; MANAGEMENT; ENCEPHALOPATHY; CARE; RECOMMENDATIONS; GUIDELINES;
D O I：
10.3390/diagnostics15040478
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Background/Objectives: Precision medicine is a state-of-the-art medicine tactic that tailors information about people's genes, environment, and lifestyle to aid the prevention, diagnosis, and treatment of various diseases to provide an overview of the currently available knowledge and applicability of precision medicine in the diagnosis of different cases admitted to the NICU, such as encephalopathies, respiratory distress syndrome of prematurity, hemodynamic instability, acute kidney injury, sepsis, and hyperbilirubinemia. Methods: The authors searched databases, such as PubMed and PubMed Central, for the terms neonatal "precision medicine", "personalized medicine", "genomics", and "metabolomics", all related to precision medicine in the diagnosis of neonatal illness. The related studies were collected. Results: The review highlights the diagnostic approach that serves to implement precision medicine in the NICU and provide precision diagnosis, monitoring, and treatment. Conclusions: In this review, we projected several diagnostic approaches that provide precision identification of health problems among sick neonates with complex illnesses in the NICU; some are noninvasive and available in ordinary healthcare settings, while others are invasive or not feasible or still in ongoing research as machine learning algorithms. Future studies are needed for the wide implementation of artificial intelligence tools in the diagnosis of neonatal illnesses.
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页数：45
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共 156 条
  • [1] Papachristou K., Katsakiori P.F., Papadimitroulas P., Strigari L., Kagadis G.C., Digital Twins’ Advancements and Applications in Healthcare, Towards Precision Medicine, J. Pers. Med, 14, (2024)
  • [2] Delpierre C., Lefevre T., Precision and personalized medicine: What their current definition says and silences about the model of health they promote. Implication for the development of personalized health, Front. Sociol, 21, (2023)
  • [3] Leite S., Barros A.C., Liz C.F., Aires S., Carvalho C., Precision medicine in neonatology, J. Pediatr. Neonatal. Individ. Med, 11, (2022)
  • [4] Elsayed Y.N., Amer R., Seshia M.M., The impact of integrated evaluation of hemodynamics using targeted neonatal echocardiography with indices of tissue oxygenation: A new approach, J. Perinatol, 37, pp. 527-535, (2017)
  • [5] ELMeneza S.A., Hassan N.F., Mohamed A.R., Pancreatic Ultrasound in High-risk Neonates, Gen. Reanimatol, 20, pp. 31-36, (2024)
  • [6] Dong X., Xiao T., Chen B., Lu Y., Zhou W., Precision medicine via the integration of phenotype-genotype information in neonatal genome project, Fundam. Res, 2, pp. 873-884, (2022)
  • [7] Ceyhan-Birsoy O., Machini K., Lebo M.S., Yu T.W., Agrawal P.B., Parad R.B., Holm I.A., McGuire A., Green R.C., Beggs A.H., Et al., A curated gene list for reporting results of newborn genomic sequencing, Anesth. Analg, 19, pp. 809-818, (2017)
  • [8] Yang L., Liu X., Li Z., Zhang P., Wu B., Wang H., Hu L., Cheng G., Wang L., Zhou W., Genetic aetiology of early infant deaths in a neonatal intensive care unit, J. Med. Genet, 57, pp. 169-177, (2020)
  • [9] Petrikin J.E., Cakici J.A., Clark M.M., Willig L.K., Sweeney N.M., Farrow E.G., Saunders C.J., Thiffault I., Miller N.A., Zellmer L., Et al., The NSIGHT1-randomized controlled trial: Rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants, NPJ Genom. Med, 9, (2018)
  • [10] Yang L., Chen J., Shen B., Newborn Screening in the Era of Precision Medicine, Adv. Exp. Med. Biol, 1005, pp. 47-61, (2017)
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