Sudden infant death syndrome pathophysiology: Difference between revisions

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{{CMG}}; {{AE}} {{VKG}}
{{CMG}}; {{AE}} {{VKG}}
==Overview==
==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.
The exact [[pathogenesis]] of [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) is not fully understood. It is thought that [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) may be caused by either [[Genetics|genetic]] [[Mutation|mutations]], [[brainstem]] abnormality, airflow obstruction, [[maternal]] [[smoking]], or [[infection]].


OR
==Pathophysiology==
===Pathogenesis===
*The exact [[pathogenesis]] of [[Sudden infant death syndrome|Sudden infant death syndrome (SIDS]]) is not completely understood.
*The [[pathogenesis]] of [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) involves the following:


[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
'''Brain anomalies'''


OR
* New evidence shows that [[Brain stem|brainstem]] anomalies which involves cardiorespiratory control in the [[midbrain]] is a significant player in developing [[Sudden infant death syndrome]] ([[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><ref name="pmid26530629">{{cite journal| author=Edlow BL, McNab JA, Witzel T, Kinney HC| title=The Structural Connectome of the Human Central Homeostatic Network. | journal=Brain Connect | year= 2016 | volume= 6 | issue= 3 | pages= 187-200 | pmid=26530629 | doi=10.1089/brain.2015.0378 | pmc=4827322 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26530629  }}</ref><ref name="pmid20124538">{{cite journal| author=Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA | display-authors=etal| title=Brainstem serotonergic deficiency in sudden infant death syndrome. | journal=JAMA | year= 2010 | volume= 303 | issue= 5 | pages= 430-7 | pmid=20124538 | doi=10.1001/jama.2010.45 | pmc=3242415 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20124538  }}</ref>
*Abnormal [[5-hydroxytryptamine]] [<nowiki/>[[5-HT]]] which is also called [[serotonin]] signalling pathway  is also implicated in the [[pathogenesis]] of developing [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]).<ref name="pmid19052756">{{cite journal| author=Machaalani R, Say M, Waters KA| title=Serotoninergic receptor 1A in the sudden infant death syndrome brainstem medulla and associations with clinical risk factors. | journal=Acta Neuropathol | year= 2009 | volume= 117 | issue= 3 | pages= 257-65 | pmid=19052756 | doi=10.1007/s00401-008-0468-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19052756  }}</ref><ref name="pmid17077377">{{cite journal| author=Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R | display-authors=etal| title=Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. | journal=JAMA | year= 2006 | volume= 296 | issue= 17 | pages= 2124-32 | pmid=17077377 | doi=10.1001/jama.296.17.2124 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17077377  }}</ref>
*Alterations in the [[serotonin]] signalling pathway leads to disturbances in [[medulla]] which in turn results in disturbances in [[autonomic]] processes.<ref name="pmid10888367">{{cite journal| author=Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF | display-authors=etal| title=Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome. | journal=J Neuropathol Exp Neurol | year= 2000 | volume= 59 | issue= 5 | pages= 377-84 | pmid=10888367 | doi=10.1093/jnen/59.5.377 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10888367  }}</ref>
*It is important to note that [[serotonin]] signalling pathway is altered by the effect of [[nicotine]], which can relate [[maternal]] [[smoking]] and the development of [[sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]).<ref name="pmid14656075">{{cite journal| author=Kinney HC, Randall LL, Sleeper LA, Willinger M, Belliveau RA, Zec N | display-authors=etal| title=Serotonergic brainstem abnormalities in Northern Plains Indians with the sudden infant death syndrome. | journal=J Neuropathol Exp Neurol | year= 2003 | volume= 62 | issue= 11 | pages= 1178-91 | pmid=14656075 | doi=10.1093/jnen/62.11.1178 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14656075  }}</ref>
*New studies have shown that the underdevelopment or abnormal alterations of [[arcuate nucleus]] in the [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) patients.<ref name="pmid1619439">{{cite journal| author=Filiano JJ, Kinney HC| title=Arcuate nucleus hypoplasia in the sudden infant death syndrome. | journal=J Neuropathol Exp Neurol | year= 1992 | volume= 51 | issue= 4 | pages= 394-403 | pmid=1619439 | doi=10.1097/00005072-199207000-00002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1619439  }}</ref><ref name="pmid13680277">{{cite journal| author=Biondo B, Lavezzi A, Tosi D, Turconi P, Matturri L| title=Delayed neuronal maturation of the medullary arcuate nucleus in sudden infant death syndrome. | journal=Acta Neuropathol | year= 2003 | volume= 106 | issue= 6 | pages= 545-51 | pmid=13680277 | doi=10.1007/s00401-003-0757-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13680277  }}</ref>


Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
'''Genetics'''


OR
* The exact involvement of [[genetic]] changes is not clear in the [[pathogenesis]] of [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]])<ref name="pmid10401808">{{cite journal| author=Malloy MH, Freeman DH| title=Sudden infant death syndrome among twins. | journal=Arch Pediatr Adolesc Med | year= 1999 | volume= 153 | issue= 7 | pages= 736-40 | pmid=10401808 | doi=10.1001/archpedi.153.7.736 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10401808  }}</ref>
* With the recent research we can say that [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) is not a [[Genetic disorder|genetic]] disorder but identification of [[genetic]] [[polymorphisms]] along with the [[Risk factor|risk factors]] increase the risk of developing susceptibility to [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]])<ref name="pmid12495955">{{cite journal| author=Platt MJ, Pharoah PO| title=The epidemiology of sudden infant death syndrome. | journal=Arch Dis Child | year= 2003 | volume= 88 | issue= 1 | pages= 27-9 | pmid=12495955 | doi=10.1136/adc.88.1.27 | pmc=1719293 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12495955  }}</ref>
*Such [[genetic]] [[polymorphisms]] along with the [[Risk factor|risk factors]] in the following [[genes]] plays a very crucial role in developing [[Sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]):<ref name="pmid17210841">{{cite journal| author=Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M | display-authors=etal| title=Cardiac sodium channel dysfunction in sudden infant death syndrome. | journal=Circulation | year= 2007 | volume= 115 | issue= 3 | pages= 368-76 | pmid=17210841 | doi=10.1161/CIRCULATIONAHA.106.646513 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17210841  }}</ref><ref name="pmid17210839">{{cite journal| author=Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C | display-authors=etal| title=Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. | journal=Circulation | year= 2007 | volume= 115 | issue= 3 | pages= 361-7 | pmid=17210839 | doi=10.1161/CIRCULATIONAHA.106.658021 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17210839  }}</ref><ref name="pmid17967976">{{cite journal| author=Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC | display-authors=etal| title=Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. | journal=Circulation | year= 2007 | volume= 116 | issue= 20 | pages= 2253-9 | pmid=17967976 | doi=10.1161/CIRCULATIONAHA.107.704627 | pmc=3332545 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17967976  }}</ref><ref name="pmid20226894">{{cite journal| author=Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A | display-authors=etal| title=Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. | journal=Heart Rhythm | year= 2010 | volume= 7 | issue= 6 | pages= 771-8 | pmid=20226894 | doi=10.1016/j.hrthm.2010.01.032 | pmc=2909680 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20226894  }}</ref><ref name="pmid18596570">{{cite journal| author=Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R | display-authors=etal| title=Cardiac ion channel gene mutations in sudden infant death syndrome. | journal=Pediatr Res | year= 2008 | volume= 64 | issue= 5 | pages= 482-7 | pmid=18596570 | doi=10.1203/PDR.0b013e3181841eca | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18596570  }}</ref><ref name="pmid29544605">{{cite journal| author=Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR | display-authors=etal| title=Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. | journal=J Am Coll Cardiol | year= 2018 | volume= 71 | issue= 11 | pages= 1217-1227 | pmid=29544605 | doi=10.1016/j.jacc.2018.01.030 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29544605  }}</ref>
**'''''[[SCN5A]]''''' [[gene]] ''(Sodium Voltage-Gated Channel Alpha Subunit 5)''
***''[[SCN5A]]'' [[gene]] encodes for [[Ion channel|ion channels]] on [[heart]]
**'''''[[SCN4A]]''''' [[gene]] ''(Sodium Voltage-Gated Channel Alpha Subunit 4)''
***''[[SCN4A]]'' [[gene]] encodes for [[Ion channel|ion channels]] on [[Skeletal muscle|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 K<sub>ir</sub>6.1 [[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+/calmodulin-dependent protein kinase|Ca2+]] release channel.
**'''[[Serotonin]] transporter [[gene]]'''
***Plays a very crucial role in [[serotonergic]] and [[Norepinephrine|noradrenergic]] transmission
**'''[[Monoamine oxidase A]]''' (''MAOA'') gene
***Plays a very crucial role in [[serotonergic]] and [[Norepinephrine|noradrenergic]] transmission
**'''[[Interleukin-10]]''' promoter gene<ref name="pmid11163082">{{cite journal| author=Summers AM, Summers CW, Drucker DB, Hajeer AH, Barson A, Hutchinson IV| title=Association of IL-10 genotype with sudden infant death syndrome. | journal=Hum Immunol | year= 2000 | volume= 61 | issue= 12 | pages= 1270-3 | pmid=11163082 | doi=10.1016/s0198-8859(00)00183-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11163082  }}</ref><ref name="pmid14630401">{{cite journal| author=Opdal SH, Opstad A, Vege A, Rognum TO| title=IL-10 gene polymorphisms are associated with infectious cause of sudden infant death. | journal=Hum Immunol | year= 2003 | volume= 64 | issue= 12 | pages= 1183-9 | pmid=14630401 | doi=10.1016/j.humimm.2003.08.359 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14630401  }}</ref>
***[[Interleukin 10|Interleukin-10]] promoter gene encodes for [[Interleukin-10]] [[anti-inflammatory]] [[cytokine]]
**'''[[Testis]]-specific Y-like''' gene<ref name="pmid15273283">{{cite journal| author=Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR | display-authors=etal| title=Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. | journal=Proc Natl Acad Sci U S A | year= 2004 | volume= 101 | issue= 32 | pages= 11689-94 | pmid=15273283 | doi=10.1073/pnas.0401194101 | pmc=511011 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15273283  }}</ref>
***Testis-specific Y-like gene [[polymorphism]] results in loss of sexual differentiation and [[Brain stem|brainstem]]-mediated sudden death
**'''[[Heat shock proteins]]''' [[gene]]<ref name="pmid8957963">{{cite journal| author=Rahim RA, Boyd PA, Ainslie Patrick WJ, Burdon RH| title=Human heat shock protein gene polymorphisms and sudden infant death syndrome. | journal=Arch Dis Child | year= 1996 | volume= 75 | issue= 5 | pages= 451-2 | pmid=8957963 | doi=10.1136/adc.75.5.451 | pmc=1511788 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8957963  }}</ref>
***[[Polymorphism]] in [[heat shock proteins]] [[gene]] results in mutated hsp70 and hsp90.


=== '''Cardiac dysfunction''' ===


[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
* According to some new studies the following [[cardiac]] alterations are found in [[Sudden infant death syndrome|SIDS]]<nowiki/>patients :<ref name="pmid9624190">{{cite journal| author=Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R | display-authors=etal| title=Prolongation of the QT interval and the sudden infant death syndrome. | journal=N Engl J Med | year= 1998 | volume= 338 | issue= 24 | pages= 1709-14 | pmid=9624190 | doi=10.1056/NEJM199806113382401 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9624190  }}</ref><ref name="pmid3338482">{{cite journal| author=Southall DP, Stevens V, Franks CI, Newcombe RG, Shinebourne EA, Wilson AJ| title=Sinus tachycardia in term infants preceding sudden infant death. | journal=Eur J Pediatr | year= 1988 | volume= 147 | issue= 1 | pages= 74-8 | pmid=3338482 | doi=10.1007/bf00442617 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3338482  }}</ref><ref name="pmid16453024">{{cite journal| author=Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW | display-authors=etal| title=A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. | journal=J Clin Invest | year= 2006 | volume= 116 | issue= 2 | pages= 430-5 | pmid=16453024 | doi=10.1172/JCI25618 | pmc=1359045 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16453024  }}</ref>
** Increase in heart rate ([[sinus tachycardia]]) which results in [[Sudden infant death syndrome|SIDS]]
**[[Long QT syndrome|Long QT intervals]] on [[The electrocardiogram|ECG]]
**


OR
=== '''Triggers''' ===
'''Prone position'''


The progression to [disease name] usually involves the [molecular pathway].
* The exact [[pathogenesis]] of prone position and the development of [[sudden infant death syndrome]] ([[Sudden infant death syndrome|SIDS]]) is not completely understood.
* According to some new studies [[infant]] being in prone position increases the risk of [[infant]] to the following:
** Suffocation of the baby
** Decrease in arousal of the baby
** Overheating of the baby


OR
==Gross Pathology==


The pathophysiology of [disease/malignancy] depends on the histological subtype.
*On gross [[pathology]], the following features are characteristic findings of [[Sudden infant death syndrome|SIDS]].
**[[Intrathoracic]] [[Petechial hemorrhages|petechial]] hemorrhages<ref name="pmid3048177">{{cite journal| author=Beckwith JB| title=Intrathoracic petechial hemorrhages: a clue to the mechanism of death in sudden infant death syndrome? | journal=Ann N Y Acad Sci | year= 1988 | volume= 533 | issue=  | pages= 37-47 | pmid=3048177 | doi=10.1111/j.1749-6632.1988.tb37232.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3048177  }}</ref>
***Numerous [[petechiae]] within the [[thymus]] and [[epicardium]] and plural [[visceral]] surfaces is a very distinctive feature of [[Sudden infant death syndrome|SIDS]].
** Positive beckwith’s sign which is uneven distribution of [[Petechia|petechiae]] on the dorsal portions of the cervical lobes of the thymus<ref name="Byard2010">{{cite journal|last1=Byard|first1=Roger W.|year=2010|doi=10.1017/CBO9780511777783}}</ref>
** Edematous and congested lungs on gross examination.
**Left ventricular hypertrabeculation


==Pathophysiology==
[[File:Left ventricular hypertrabeculation.jpg|alt=Hypertrabeculation|center|thumb|451x451px|Left ventricular hypertrabeculation in a three month old infant, presenting as sudden infant death syndrome. It is postulated that the apical area of hypertrabeculation acted as the source of a fatal arrhythmia. Case courtesy by J. Ker et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956473/|title=Sudden Infant Death Syndrome and Left Ventricular Hypertrabeculation-Hidden Arrhythmogenic Entity?|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
===Physiology===
<br />
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.
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==
== Microscopic Pathology ==
[Disease name] is transmitted in [mode of genetic transmission] pattern.


OR
* On [[microscopic]] [[histopathological]] analysis, the following features are characteristic findings of [[Sudden infant death syndrome|SIDS]]:<ref name="pmid10645227">{{cite journal| author=Yukawa N, Carter N, Rutty G, Green MA| title=Intra-alveolar haemorrhage in sudden infant death syndrome: a cause for concern? | journal=J Clin Pathol | year= 1999 | volume= 52 | issue= 8 | pages= 581-7 | pmid=10645227 | doi=10.1136/jcp.52.8.581 | pmc=500948 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10645227  }}</ref><ref name="pmid11394757">{{cite journal| author=Hanzlick R| title=Pulmonary hemorrhage in deceased infants: baseline data for further study of infant mortality. | journal=Am J Forensic Med Pathol | year= 2001 | volume= 22 | issue= 2 | pages= 188-92 | pmid=11394757 | doi=10.1097/00000433-200106000-00016 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11394757  }}</ref><ref name="pmid9094180">{{cite journal| author=Becroft DM, Lockett BK| title=Intra-alveolar pulmonary siderophages in sudden infant death: a marker for previous imposed suffocation. | journal=Pathology | year= 1997 | volume= 29 | issue= 1 | pages= 60-3 | pmid=9094180 | doi=10.1080/00313029700169554 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9094180  }}</ref><ref name="pmid12464813">{{cite journal| author=Schluckebier DA, Cool CD, Henry TE, Martin A, Wahe JW| title=Pulmonary siderophages and unexpected infant death. | journal=Am J Forensic Med Pathol | year= 2002 | volume= 23 | issue= 4 | pages= 360-3 | pmid=12464813 | doi=10.1097/00000433-200212000-00012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12464813  }}</ref><ref name="pmid15573974">{{cite journal| author=Forbes A, Acland P| title=What is the significance of haemosiderin in the lungs of deceased infants? | journal=Med Sci Law | year= 2004 | volume= 44 | issue= 4 | pages= 348-52 | pmid=15573974 | doi=10.1258/rsmmsl.44.4.348 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15573974  }}</ref><ref name="pmid19329265">{{cite journal| author=Weber MA, Ashworth MT, Anthony Risdon R, Malone M, Sebire NJ| title=The frequency and significance of alveolar haemosiderin-laden macrophages in sudden infant death. | journal=Forensic Sci Int | year= 2009 | volume= 187 | issue= 1-3 | pages= 51-7 | pmid=19329265 | doi=10.1016/j.forsciint.2009.02.016 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19329265  }}</ref>
**[[Submucosa|Submucosal]] [[chronic]] [[inflammatory]] cells in the [[lung]] [[tissues]]
** Intra-alveolar [[hemorrhage]]
**[[Hemosiderin]] within intra-[[alveolar]] [[Macrophage|macrophages]]
**Thick, [[Pseudostratified epithelium|pseudostratified]] [[Ependymal cell|ependymal]] layer in [[brain stem]] can be seen by using Klüver-Barrera stain.


Genes involved in the pathogenesis of [disease name] include:
[[File:Pseudostratified ependymal layer.jpg|alt=Thick, pseudostratified ependymal layer of a 17-week human fetus|center|thumb|600x600px|'''Thick, pseudostratified ependymal layer of a 17-week human fetus. (a)''' In the lining of the fourth ventricle (histological section of brainstem); '''(b)''' in the lining of the central canal (histological section of thoracic spinal cord). Klüver-Barrera stain; magnification, 20×. CAse courtesy by Anna M Lavezzi et al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2919533/|title=Ependymal alterations in sudden intrauterine unexplained death and sudden infant death syndrome: possible primary consequence of prenatal exposure to cigarette smoking|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
*[Gene1]
*[Gene2]
*[Gene3]


OR
* Focal granule cell dispersion in the dentate gyrus can be seen on microscopy of the brain in [[Sudden infant death syndrome|SIDS]].
 
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==
*[[Hippocampus]] of an [[infant]] shows with sudden unexplained death with focal granule cell bilamination in [[Sudden infant death syndrome|SIDS]].
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
* Clusters of immature cells can be seen in the [[dentate gyrus]] of brain on [[microscopy]].


[[File:Focal granule cell dispersion in the dentate gyrus (DG).jpg|center|thumb|708x708px|Examples of focal granule cell dispersion in the dentate gyrus (DG) and associated abnormalities in infants with sudden unexplained in death. '''a''' Normal infant hippocampus with landmarks for reference at its mid-body [level of the lateral geniculate nucleus (not shown)]. The DG forms the shape of a “C” at this level. Hematoxylin and eosin (H&E), ×4. '''b''' Control DG in a 4-month-old infant with explained cause of death. The DG consists of densely packed granule cells in a linear structure in its straight limbs. H&E, ×20. '''c''' Hippocampus of an infant with sudden unexplained death with focal granule cell bilamination (''arrow'') in the DG. H&E, ×4. '''d''' Hippocampus of a second infant with sudden unexplained death with focal granule cell bilamination (''arrow'') in the DG. H&E, ×10. '''e''' Hippocampus of a third infant with sudden unexplained death with focal granule cell bilamination (''arrow'') in the DG. H&E, ×10. '''f''' Hippocampus of a fourth infant with sudden unexplained death with focal granule cell bilamination (''arrow'') in the DG. H&E, ×10. '''g''' Granule cell duplication at the bend (hook) of the DG (''arrow''), associated with FGCB along the straight limb, in an infant with sudden unexplained death. H&E, ×20. '''h''' There are single, ectopic granule cells in the molecular layer (''arrowheads''). In the DG, there are immature cells, suggestive of immature neurons (Fig. 2), present in the subgranular layer. H&E, ×20. '''i''' There are immature cells in the DG (''arrowheads''), as well as clusters of granule cells in the molecular layer (''arrow''). H&E, ×20. ''DG'' dentate gyrus, ''ML'' molecular layer. Case courtesy by Hannah C. Kinney et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282685/|title=Dentate gyrus abnormalities in sudden unexplained death in infants: morphological marker of underlying brain vulnerability|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 14:21, 12 May 2020

Sudden infant death syndrome Microchapters

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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.

Pathophysiology

Pathogenesis

Brain anomalies

Genetics

Cardiac dysfunction

Triggers

Prone position

  • The exact pathogenesis of prone position and the development of sudden infant death syndrome (SIDS) is not completely understood.
  • According to some new studies infant being in prone position increases the risk of infant to the following:
    • Suffocation of the baby
    • Decrease in arousal of the baby
    • Overheating of the baby

Gross Pathology

  • On gross pathology, the following features are characteristic findings of SIDS.
Hypertrabeculation
Left ventricular hypertrabeculation in a three month old infant, presenting as sudden infant death syndrome. It is postulated that the apical area of hypertrabeculation acted as the source of a fatal arrhythmia. Case courtesy by J. Ker et al[27]


Microscopic Pathology

Thick, pseudostratified ependymal layer of a 17-week human fetus
Thick, pseudostratified ependymal layer of a 17-week human fetus. (a) In the lining of the fourth ventricle (histological section of brainstem); (b) in the lining of the central canal (histological section of thoracic spinal cord). Klüver-Barrera stain; magnification, 20×. CAse courtesy by Anna M Lavezzi et al.[34]
  • Focal granule cell dispersion in the dentate gyrus can be seen on microscopy of the brain in SIDS.
Examples of focal granule cell dispersion in the dentate gyrus (DG) and associated abnormalities in infants with sudden unexplained in death. a Normal infant hippocampus with landmarks for reference at its mid-body [level of the lateral geniculate nucleus (not shown)]. The DG forms the shape of a “C” at this level. Hematoxylin and eosin (H&E), ×4. b Control DG in a 4-month-old infant with explained cause of death. The DG consists of densely packed granule cells in a linear structure in its straight limbs. H&E, ×20. c Hippocampus of an infant with sudden unexplained death with focal granule cell bilamination (arrow) in the DG. H&E, ×4. d Hippocampus of a second infant with sudden unexplained death with focal granule cell bilamination (arrow) in the DG. H&E, ×10. e Hippocampus of a third infant with sudden unexplained death with focal granule cell bilamination (arrow) in the DG. H&E, ×10. f Hippocampus of a fourth infant with sudden unexplained death with focal granule cell bilamination (arrow) in the DG. H&E, ×10. g Granule cell duplication at the bend (hook) of the DG (arrow), associated with FGCB along the straight limb, in an infant with sudden unexplained death. H&E, ×20. h There are single, ectopic granule cells in the molecular layer (arrowheads). In the DG, there are immature cells, suggestive of immature neurons (Fig. 2), present in the subgranular layer. H&E, ×20. i There are immature cells in the DG (arrowheads), as well as clusters of granule cells in the molecular layer (arrow). H&E, ×20. DG dentate gyrus, ML molecular layer. Case courtesy by Hannah C. Kinney et al[35]


References

  1. ↑ 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.
  2. ↑ Edlow BL, McNab JA, Witzel T, Kinney HC (2016). "The Structural Connectome of the Human Central Homeostatic Network". Brain Connect. 6 (3): 187–200. doi:10.1089/brain.2015.0378. PMC 4827322. PMID 26530629.
  3. ↑ Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA; et al. (2010). "Brainstem serotonergic deficiency in sudden infant death syndrome". JAMA. 303 (5): 430–7. doi:10.1001/jama.2010.45. PMC 3242415. PMID 20124538.
  4. ↑ Machaalani R, Say M, Waters KA (2009). "Serotoninergic receptor 1A in the sudden infant death syndrome brainstem medulla and associations with clinical risk factors". Acta Neuropathol. 117 (3): 257–65. doi:10.1007/s00401-008-0468-x. PMID 19052756.
  5. ↑ Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R; et al. (2006). "Multiple serotonergic brainstem abnormalities in sudden infant death syndrome". JAMA. 296 (17): 2124–32. doi:10.1001/jama.296.17.2124. PMID 17077377.
  6. ↑ Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF; et al. (2000). "Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome". J Neuropathol Exp Neurol. 59 (5): 377–84. doi:10.1093/jnen/59.5.377. PMID 10888367.
  7. ↑ Kinney HC, Randall LL, Sleeper LA, Willinger M, Belliveau RA, Zec N; et al. (2003). "Serotonergic brainstem abnormalities in Northern Plains Indians with the sudden infant death syndrome". J Neuropathol Exp Neurol. 62 (11): 1178–91. doi:10.1093/jnen/62.11.1178. PMID 14656075.
  8. ↑ Filiano JJ, Kinney HC (1992). "Arcuate nucleus hypoplasia in the sudden infant death syndrome". J Neuropathol Exp Neurol. 51 (4): 394–403. doi:10.1097/00005072-199207000-00002. PMID 1619439.
  9. ↑ Biondo B, Lavezzi A, Tosi D, Turconi P, Matturri L (2003). "Delayed neuronal maturation of the medullary arcuate nucleus in sudden infant death syndrome". Acta Neuropathol. 106 (6): 545–51. doi:10.1007/s00401-003-0757-3. PMID 13680277.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R; et al. (1998). "Prolongation of the QT interval and the sudden infant death syndrome". N Engl J Med. 338 (24): 1709–14. doi:10.1056/NEJM199806113382401. PMID 9624190.
  23. ↑ Southall DP, Stevens V, Franks CI, Newcombe RG, Shinebourne EA, Wilson AJ (1988). "Sinus tachycardia in term infants preceding sudden infant death". Eur J Pediatr. 147 (1): 74–8. doi:10.1007/bf00442617. PMID 3338482.
  24. ↑ Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW; et al. (2006). "A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y". J Clin Invest. 116 (2): 430–5. doi:10.1172/JCI25618. PMC 1359045. PMID 16453024.
  25. ↑ Beckwith JB (1988). "Intrathoracic petechial hemorrhages: a clue to the mechanism of death in sudden infant death syndrome?". Ann N Y Acad Sci. 533: 37–47. doi:10.1111/j.1749-6632.1988.tb37232.x. PMID 3048177.
  26. ↑ Byard, Roger W. (2010). doi:10.1017/CBO9780511777783. Missing or empty |title= (help)
  27. ↑ "Sudden Infant Death Syndrome and Left Ventricular Hypertrabeculation-Hidden Arrhythmogenic Entity?".
  28. ↑ Yukawa N, Carter N, Rutty G, Green MA (1999). "Intra-alveolar haemorrhage in sudden infant death syndrome: a cause for concern?". J Clin Pathol. 52 (8): 581–7. doi:10.1136/jcp.52.8.581. PMC 500948. PMID 10645227.
  29. ↑ Hanzlick R (2001). "Pulmonary hemorrhage in deceased infants: baseline data for further study of infant mortality". Am J Forensic Med Pathol. 22 (2): 188–92. doi:10.1097/00000433-200106000-00016. PMID 11394757.
  30. ↑ Becroft DM, Lockett BK (1997). "Intra-alveolar pulmonary siderophages in sudden infant death: a marker for previous imposed suffocation". Pathology. 29 (1): 60–3. doi:10.1080/00313029700169554. PMID 9094180.
  31. ↑ Schluckebier DA, Cool CD, Henry TE, Martin A, Wahe JW (2002). "Pulmonary siderophages and unexpected infant death". Am J Forensic Med Pathol. 23 (4): 360–3. doi:10.1097/00000433-200212000-00012. PMID 12464813.
  32. ↑ Forbes A, Acland P (2004). "What is the significance of haemosiderin in the lungs of deceased infants?". Med Sci Law. 44 (4): 348–52. doi:10.1258/rsmmsl.44.4.348. PMID 15573974.
  33. ↑ Weber MA, Ashworth MT, Anthony Risdon R, Malone M, Sebire NJ (2009). "The frequency and significance of alveolar haemosiderin-laden macrophages in sudden infant death". Forensic Sci Int. 187 (1–3): 51–7. doi:10.1016/j.forsciint.2009.02.016. PMID 19329265.
  34. ↑ "Ependymal alterations in sudden intrauterine unexplained death and sudden infant death syndrome: possible primary consequence of prenatal exposure to cigarette smoking".
  35. ↑ "Dentate gyrus abnormalities in sudden unexplained death in infants: morphological marker of underlying brain vulnerability".

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