Sudden infant death syndrome pathophysiology: Difference between revisions
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*The exact pathogenesis of Sudden infant death syndrome (SIDS) is not completely understood. | *The exact pathogenesis of Sudden infant death syndrome (SIDS) is not completely understood. | ||
*The pathogenesis of Sudden infant death syndrome (SIDS) involves the following: | *The pathogenesis of Sudden infant death syndrome (SIDS) involves the following: | ||
'''Brain anomalies''' | |||
* New evidence shows that brainstem anomalies which involves cardiorespiratory control in the midbrain is a significant player in developing sudden infant death syndrome (SIDS).<ref name="pmid8888285">{{cite journal| author=Schechtman VL, Lee MY, Wilson AJ, Harper RM| title=Dynamics of respiratory patterning in normal infants and infants who subsequently died of the sudden infant death syndrome. | journal=Pediatr Res | year= 1996 | volume= 40 | issue= 4 | pages= 571-7 | pmid=8888285 | doi=10.1203/00006450-199610000-00010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8888285 }}</ref> | |||
'''Genetics''' | '''Genetics''' | ||
Revision as of 15:22, 20 February 2020
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Sudden infant death syndrome Microchapters |
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Differentiating Sudden infant death syndrome from other Diseases |
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Sudden infant death syndrome pathophysiology On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The exact pathogenesis of Sudden infant death syndrome (SIDS) is not fully understood. It is thought that Sudden infant death syndrome (SIDS) may be caused by either genetic mutations, brainstem abnormality, airflow obstruction, maternal smoking, or infection.
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Physiology
The normal physiology of [name of process] can be understood as follows:
Pathogenesis
- The exact pathogenesis of Sudden infant death syndrome (SIDS) is not completely understood.
- The pathogenesis of Sudden infant death syndrome (SIDS) involves the following:
Brain anomalies
- New evidence shows that brainstem anomalies which involves cardiorespiratory control in the midbrain is a significant player in developing sudden infant death syndrome (SIDS).[1]
Genetics
- The exact involvement of genetic changes is not clear in the pathogenesis of Sudden infant death syndrome (SIDS)[2]
- With the recent research we can say that Sudden infant death syndrome (SIDS) is not a genetic disorder but identification of genetic polymorphisms along with the risk factors increase the risk of developing susceptibility to Sudden infant death syndrome (SIDS)[3]
- Such genetic polymorphisms along with the risk factors in the following genes plays a very crucial role in developing Sudden infant death syndrome (SIDS):[4][5][6][7][8][9]
- SCN5A gene (Sodium Voltage-Gated Channel Alpha Subunit 5)
- SCN5A gene encodes for ion channels on heart
- SCN4A gene (Sodium Voltage-Gated Channel Alpha Subunit 4)
- SCN4A gene encodes for ion channels on skeletal muscles
- KCNQ1 gene (Potassium Voltage-Gated Channel Subfamily Q Member 1)
- KCNQ1 gene encodes for functional potassium channels on heart and inner ear.
- KCNJ8 gene (Potassium Inwardly Rectifying Channel Subfamily J Member 8)
- KCNJ8 gene encodes for Kir6.1 protein and plays an very important role in cardiac repolarization.
- KCNH2 gene (Potassium Voltage-Gated Channel Subfamily H Member 2)
- KCNH2 gene encodes for voltage-Gated Potassium Channel Subunit Kv11.1
- RYR2 (Ryanodine receptor 2)
- Ryanodine receptor 2 (RyR2) encodes for Ca2+ release channel.
- Serotonin transporter gene
- Plays a very crucial role in serotonergic and noradrenergic transmission
- Monoamine oxidase A (MAOA) gene
- Plays a very crucial role in serotonergic and noradrenergic transmission
- Interleukin-10 promoter gene[10][11]
- Interleukin-10 promoter gene encodes for Interleukin-10 anti-inflammatory cytokine
- Testis-specific Y-like gene[12]
- Testis-specific Y-like gene polymorphism results in loss of sexual differentiation and brainstem-mediated sudden death
- Heat shock proteins gene[13]
- Polymorphism in heat shock proteins gene results in mutated hsp70 and hsp90.
- SCN5A gene (Sodium Voltage-Gated Channel Alpha Subunit 5)
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
[Disease name] is transmitted in [mode of genetic transmission] pattern.
OR
Genes involved in the pathogenesis of [disease name] include:
- [Gene1]
- [Gene2]
- [Gene3]
OR
The development of [disease name] is the result of multiple genetic mutations such as:
- [Mutation 1]
- [Mutation 2]
- [Mutation 3]
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Schechtman VL, Lee MY, Wilson AJ, Harper RM (1996). "Dynamics of respiratory patterning in normal infants and infants who subsequently died of the sudden infant death syndrome". Pediatr Res. 40 (4): 571–7. doi:10.1203/00006450-199610000-00010. PMID 8888285.
- ↑ Malloy MH, Freeman DH (1999). "Sudden infant death syndrome among twins". Arch Pediatr Adolesc Med. 153 (7): 736–40. doi:10.1001/archpedi.153.7.736. PMID 10401808.
- ↑ Platt MJ, Pharoah PO (2003). "The epidemiology of sudden infant death syndrome". Arch Dis Child. 88 (1): 27–9. doi:10.1136/adc.88.1.27. PMC 1719293. PMID 12495955.
- ↑ Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M; et al. (2007). "Cardiac sodium channel dysfunction in sudden infant death syndrome". Circulation. 115 (3): 368–76. doi:10.1161/CIRCULATIONAHA.106.646513. PMID 17210841.
- ↑ Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C; et al. (2007). "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome". Circulation. 115 (3): 361–7. doi:10.1161/CIRCULATIONAHA.106.658021. PMID 17210839.
- ↑ Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC; et al. (2007). "Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome". Circulation. 116 (20): 2253–9. doi:10.1161/CIRCULATIONAHA.107.704627. PMC 3332545. PMID 17967976.
- ↑ Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A; et al. (2010). "Sudden infant death syndrome-associated mutations in the sodium channel beta subunits". Heart Rhythm. 7 (6): 771–8. doi:10.1016/j.hrthm.2010.01.032. PMC 2909680. PMID 20226894.
- ↑ Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R; et al. (2008). "Cardiac ion channel gene mutations in sudden infant death syndrome". Pediatr Res. 64 (5): 482–7. doi:10.1203/PDR.0b013e3181841eca. PMID 18596570.
- ↑ Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR; et al. (2018). "Cardiac Genetic Predisposition in Sudden Infant Death Syndrome". J Am Coll Cardiol. 71 (11): 1217–1227. doi:10.1016/j.jacc.2018.01.030. PMID 29544605.
- ↑ Summers AM, Summers CW, Drucker DB, Hajeer AH, Barson A, Hutchinson IV (2000). "Association of IL-10 genotype with sudden infant death syndrome". Hum Immunol. 61 (12): 1270–3. doi:10.1016/s0198-8859(00)00183-x. PMID 11163082.
- ↑ Opdal SH, Opstad A, Vege A, Rognum TO (2003). "IL-10 gene polymorphisms are associated with infectious cause of sudden infant death". Hum Immunol. 64 (12): 1183–9. doi:10.1016/j.humimm.2003.08.359. PMID 14630401.
- ↑ Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR; et al. (2004). "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function". Proc Natl Acad Sci U S A. 101 (32): 11689–94. doi:10.1073/pnas.0401194101. PMC 511011. PMID 15273283.
- ↑ Rahim RA, Boyd PA, Ainslie Patrick WJ, Burdon RH (1996). "Human heat shock protein gene polymorphisms and sudden infant death syndrome". Arch Dis Child. 75 (5): 451–2. doi:10.1136/adc.75.5.451. PMC 1511788. PMID 8957963.