Asplenia pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].<ref name="pmid30072435">{{cite journal| author=Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P | display-authors=etal| title=Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. | journal=Proc Natl Acad Sci U S A | year= 2018 | volume= 115 | issue= 34 | pages= E8007-E8016 | pmid=30072435 | doi=10.1073/pnas.1805437115 | pmc=6112730 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30072435 }} </ref> | |||
Genes involved in the pathogenesis of | |||
==Associated Conditions== | ==Associated Conditions== | ||
Revision as of 09:28, 3 July 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Anum Dilip, M.B.B.S[2]
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
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 [disease name] 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
Genes involved in the pathogenesis of Isolatd congenital asplenia include: Mutations in RPSA exons can affect the translated or untranslated regions and can underlie Isolatd congenital asplenia(ICA) with complete or incomplete penetrance.[1]
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
- ↑ Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P; et al. (2018). "Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons". Proc Natl Acad Sci U S A. 115 (34): E8007–E8016. doi:10.1073/pnas.1805437115. PMC 6112730. PMID 30072435.