Yeni doğulmuş uşaqlarda hipoksik-işemik ensefalopatiya ilə genetik və doğuşdan olan anomaliyalarin yayilmasi
Annotasiya
Bu nəzərdən keçirmə məqaləsində yeni doğulmuşlarda hipoksik-işemik ensefalopatiya ilə genetik və doğuşdan olan anomaliyaların qarşılıqlı əlaqəsini öyrənən tədqiqatların məlumatları təqdim olunur. Qeyd olunur ki, nevroloji inkişaf
pozuntuları doğuşdan gələn ürək qüsuru olan yeni doğulmuşlarda ən mühüm müşayiət edən xəstəlik halına gəlib. Potensial genetik modifikatorların identifikasiyası nəticələrin yaxşılaşdırılması və xəstəlik hallarının azaldılması üçün daha məqsədli terapiyaya kömək edə bilər.
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Biblioqrafik istinadlar
1. Yang L, Chen X, Liu X, et al. Clinical features and underlying genetic causes in neonatal encephalopathy: a large cohort study. Clin Genet. 2020;98:365e373.
2. Morell A.S., Monsell S.E., Cornet MC., Heagerty P.J., Juul S.E., Wu Y.W. et al. Genetic and Congenital Anomalies in Infants With Hypoxic-Ischemic Encephalopathy. Pediatric Neurology. 2024; 154: 44–50. doi: 10.1016/j.pediatrneurol.2024.02.007.
3. Li Y., Thompson W.K., Reuter C., Nillo R., Jernigan T., Dale A., et al. Rates of Incidental Findings in Brain Magnetic Resonance Imaging in Children. JAMA Neurol. 2021;78(5):578-587. doi:10.1001/jamaneurol.2021.0306.
4. Bruun TUJ, DesRoches CL, Wilson D, Chau V, Nakagawa T, Yamasaki M, Hasegawa S, Fukao T, Marshall C, Mercimek-Andrews S. Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med. 2018 Apr;20(5):486-494. doi: 10.1038/gim.2017.129.
5. Parobek C.M., Zemet R., Shanahan M.A., Burnett B.A., Mizerik E., Rosenfeld J.A., et al. Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis. Clin Genet. 2024;106(1):95-101. doi:
10.1111/cge.14522.
6. Woodward KE, Murthy P, Mineyko A, Mohammad K, Esser MJ. Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series. J Child Neurol. 2023;38(1-2):16-24. doi: 10.1177/08830738221147805.
7. Lemyre B., Chau V. Hypothermia for newborns with hypoxic-ischemic encephalopathy. Paediatr Child Health. 2018;23(4):285-291. doi:
10.1093/pch/pxy028.
8. Allen K.A., Brandon D.H. Hypoxic Ischemic Encephalopathy: Pathophysiology and Experimental Treatments. Newborn Infant Nurs Rev. 2011;11(3):125-133. doi: 10.1053/j.nainr.2011.07.004.
9. Weckhuysen S., Ivanovic V., Hendrickx R., Van Coster R., Hjalgrim H., Møller R.S., et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1.
10. Kuersten M., Tacke M., Gerstl L., Hoelz H., Stülpnagel C.V., Borggraefe I. Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review. Eur J Med Genet. 2020;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001.
11. Zhang S., Zhang Z., Shen Y., Zhu Y., Du K., Guo J., et al. SCN9A Epileptic Encephalopathy Mutations Display a Gainof-function Phenotype and Distinct Sensitivity to Oxcarbazepine. Neurosci Bull. 2020;36(1):11-24. doi: 10.1007/s12264-019-00413-5.
12. Jaiswal A.S., Williamson E.A., Srinivasan G., Kong K., Lomelino C.L., McKenna R. et al. The splicing component ISY1 regulates APE1 in base excision repair. DNA Repair. 2020;86:102769. doi: 10.1016/j.dnarep.2019.102769.
13. Guo Y., Chen Y., Yang M., Xu X., Lin Z., Ma J., et al. A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity. Front Genet. 2020;11:61. doi: 10.3389/fgene.2020.00061.
14. Nemani T., Steel D., Kaliakatsos M., DeVile C., Ververi A., Scott R., et al. KIF1Arelated disorders in children: A wide spectrum of central and peripheral nervous system involvement. J Peripher Nerv Syst. 2020;25(2):117-124. doi: 10.1111/jns.12368.
15. Marcorelles P., Friocourt G., Uguen A., Ledé F., Férec C., Laquerrière A. Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR. J Histochem Cytochem. 2014;62(11):791- 801. doi: 10.1369/0022155414546190.
16. Prasad C., Rupar T., Prasad A.N. Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev. 2011;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. 17. Volpe J.J. Encephalopathy of Congenital Heart Disease – Destructive and Developmental Effects Intertwined. The Journal of Pediatrics. 2014; 164(5):962 – 965. doi: 10.1016/j.jpeds.2014.01.002
18. Kelly Ch.J., Arulkumaran S., Pereira C.T., Cordero-Grande L., Hughes E.J., Teixeira R.P.A.G. et al. Neuroimaging findings in newborns with congenital heart disease prior to surgery: an observational study. Arch Dis Child 2019;104:1042–1048. doi:10.1136/archdischild-2018- 314822.
19. Stegeman R., Sprong M.C.A., Breur J.M.P.J., Groenendaal F., de Vries L.S., Haas F., et al. Early motor outcomes in infants with critical congenital heart disease are related to neonatal brain development and brain injury. Developmental Medicine & Child Neurology/ 2022; 64(2):192-199. doi: 10.1111/dmcn.15024
20. Рахманкулова З.Ж., Файзиева З.Б., Ходжамова Н.К., Алангова М.З. Характеристика патологических состояний у новорожденных с гипоксически-ишемической энцефалопатией, ассоциированной с ВПС. Российский педиатрический
журнал. 2022;3(1):253.
2. Morell A.S., Monsell S.E., Cornet MC., Heagerty P.J., Juul S.E., Wu Y.W. et al. Genetic and Congenital Anomalies in Infants With Hypoxic-Ischemic Encephalopathy. Pediatric Neurology. 2024; 154: 44–50. doi: 10.1016/j.pediatrneurol.2024.02.007.
3. Li Y., Thompson W.K., Reuter C., Nillo R., Jernigan T., Dale A., et al. Rates of Incidental Findings in Brain Magnetic Resonance Imaging in Children. JAMA Neurol. 2021;78(5):578-587. doi:10.1001/jamaneurol.2021.0306.
4. Bruun TUJ, DesRoches CL, Wilson D, Chau V, Nakagawa T, Yamasaki M, Hasegawa S, Fukao T, Marshall C, Mercimek-Andrews S. Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med. 2018 Apr;20(5):486-494. doi: 10.1038/gim.2017.129.
5. Parobek C.M., Zemet R., Shanahan M.A., Burnett B.A., Mizerik E., Rosenfeld J.A., et al. Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis. Clin Genet. 2024;106(1):95-101. doi:
10.1111/cge.14522.
6. Woodward KE, Murthy P, Mineyko A, Mohammad K, Esser MJ. Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series. J Child Neurol. 2023;38(1-2):16-24. doi: 10.1177/08830738221147805.
7. Lemyre B., Chau V. Hypothermia for newborns with hypoxic-ischemic encephalopathy. Paediatr Child Health. 2018;23(4):285-291. doi:
10.1093/pch/pxy028.
8. Allen K.A., Brandon D.H. Hypoxic Ischemic Encephalopathy: Pathophysiology and Experimental Treatments. Newborn Infant Nurs Rev. 2011;11(3):125-133. doi: 10.1053/j.nainr.2011.07.004.
9. Weckhuysen S., Ivanovic V., Hendrickx R., Van Coster R., Hjalgrim H., Møller R.S., et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1.
10. Kuersten M., Tacke M., Gerstl L., Hoelz H., Stülpnagel C.V., Borggraefe I. Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review. Eur J Med Genet. 2020;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001.
11. Zhang S., Zhang Z., Shen Y., Zhu Y., Du K., Guo J., et al. SCN9A Epileptic Encephalopathy Mutations Display a Gainof-function Phenotype and Distinct Sensitivity to Oxcarbazepine. Neurosci Bull. 2020;36(1):11-24. doi: 10.1007/s12264-019-00413-5.
12. Jaiswal A.S., Williamson E.A., Srinivasan G., Kong K., Lomelino C.L., McKenna R. et al. The splicing component ISY1 regulates APE1 in base excision repair. DNA Repair. 2020;86:102769. doi: 10.1016/j.dnarep.2019.102769.
13. Guo Y., Chen Y., Yang M., Xu X., Lin Z., Ma J., et al. A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity. Front Genet. 2020;11:61. doi: 10.3389/fgene.2020.00061.
14. Nemani T., Steel D., Kaliakatsos M., DeVile C., Ververi A., Scott R., et al. KIF1Arelated disorders in children: A wide spectrum of central and peripheral nervous system involvement. J Peripher Nerv Syst. 2020;25(2):117-124. doi: 10.1111/jns.12368.
15. Marcorelles P., Friocourt G., Uguen A., Ledé F., Férec C., Laquerrière A. Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR. J Histochem Cytochem. 2014;62(11):791- 801. doi: 10.1369/0022155414546190.
16. Prasad C., Rupar T., Prasad A.N. Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev. 2011;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. 17. Volpe J.J. Encephalopathy of Congenital Heart Disease – Destructive and Developmental Effects Intertwined. The Journal of Pediatrics. 2014; 164(5):962 – 965. doi: 10.1016/j.jpeds.2014.01.002
18. Kelly Ch.J., Arulkumaran S., Pereira C.T., Cordero-Grande L., Hughes E.J., Teixeira R.P.A.G. et al. Neuroimaging findings in newborns with congenital heart disease prior to surgery: an observational study. Arch Dis Child 2019;104:1042–1048. doi:10.1136/archdischild-2018- 314822.
19. Stegeman R., Sprong M.C.A., Breur J.M.P.J., Groenendaal F., de Vries L.S., Haas F., et al. Early motor outcomes in infants with critical congenital heart disease are related to neonatal brain development and brain injury. Developmental Medicine & Child Neurology/ 2022; 64(2):192-199. doi: 10.1111/dmcn.15024
20. Рахманкулова З.Ж., Файзиева З.Б., Ходжамова Н.К., Алангова М.З. Характеристика патологических состояний у новорожденных с гипоксически-ишемической энцефалопатией, ассоциированной с ВПС. Российский педиатрический
журнал. 2022;3(1):253.
Müəlliflər
Mamedzade G.T, Kurbanova D.F, Ibrahimova N.F, Smirnova E.E., & Mustafaeva K.T. (2025). Yeni doğulmuş uşaqlarda hipoksik-işemik ensefalopatiya ilə genetik və doğuşdan olan anomaliyalarin yayilmasi. Azərbaycan Pediatriya Jurnalı, 1(1), 20–28. https://doi.org/10.28942/apj.v1i1.24
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