Matches in SemOpenAlex for { <https://semopenalex.org/work/W2897848103> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2897848103 endingPage "227" @default.
- W2897848103 startingPage "226" @default.
- W2897848103 abstract "Aicardi–Goutieres syndrome (AGS) is a rare genetic neurological disease arising during the first year of life. AGS features in fetus mimic those of in utero infection, most commonly characterised by microcephaly and cerebral calcification. AGS is usually an autosomal recessive disorder. Six genes have been described: TREX1 (AGS1) and RNASEH2B (AGS2) are responsible for 73% of the known forms. We report a case of prenatal fetal cardiac calcifications as the presenting sign of AGS. The parents are consanguineous with two healthy children and one affected who was diagnosed with severe intellectual disability, epilepsy and diffuse brain calcifications on CT scan. The child died at 4 years of age without a definitive diagnosis. The mother was referred at the 21st week of her new pregnancy due to fetal myocardial calcification, premature atrial beats and pericardial effusion. No calcifications were detected in the brain, liver, spleen, and placenta. Maternal serology for intrauterine infection and tests for ANA, anti-SSA and anti-SSB were negative. Ultrasound at 27 week revealed calcifications in myocardium, caudothalamic groove and liver. At 32 weeks, multiple bilateral thalamic, brainstem, and striatal calcifications were detected with a unilateral parenchymal temporal lobe cyst. Extensive myocardial calcifications were noted with deterioration in cardiac function. In view of the fetal findings and previous family history of the similar presentation and grave outcome, the couple chose to terminate the pregnancy. Amniotic fluid was taken for the AGS genetic analysis. Fetal biallelic mutations in TREX1 gene were detected in the amniotic fluid and the preserved DNA of the previous affected sibling. AGS is a genetic disease associated with a high risk of recurrence. It mimics congenital infection and should be considered in cases with negative TORCH workup. Myocardial calcifications and arrhythmia may be the earliest manifestations of AGS due to TREX1 mutation. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W2897848103 created "2018-10-26" @default.
- W2897848103 creator A5009584895 @default.
- W2897848103 creator A5021634204 @default.
- W2897848103 creator A5032611540 @default.
- W2897848103 creator A5042503074 @default.
- W2897848103 creator A5042662203 @default.
- W2897848103 creator A5049399335 @default.
- W2897848103 creator A5064240782 @default.
- W2897848103 creator A5071286671 @default.
- W2897848103 creator A5072385279 @default.
- W2897848103 creator A5076946711 @default.
- W2897848103 date "2018-10-01" @default.
- W2897848103 modified "2023-09-27" @default.
- W2897848103 title "EP08.18: Unusual early prenatal manifestation of Aicardi-Goutieres syndrome" @default.
- W2897848103 doi "https://doi.org/10.1002/uog.19903" @default.
- W2897848103 hasPublicationYear "2018" @default.
- W2897848103 type Work @default.
- W2897848103 sameAs 2897848103 @default.
- W2897848103 citedByCount "0" @default.
- W2897848103 crossrefType "journal-article" @default.
- W2897848103 hasAuthorship W2897848103A5009584895 @default.
- W2897848103 hasAuthorship W2897848103A5021634204 @default.
- W2897848103 hasAuthorship W2897848103A5032611540 @default.
- W2897848103 hasAuthorship W2897848103A5042503074 @default.
- W2897848103 hasAuthorship W2897848103A5042662203 @default.
- W2897848103 hasAuthorship W2897848103A5049399335 @default.
- W2897848103 hasAuthorship W2897848103A5064240782 @default.
- W2897848103 hasAuthorship W2897848103A5071286671 @default.
- W2897848103 hasAuthorship W2897848103A5072385279 @default.
- W2897848103 hasAuthorship W2897848103A5076946711 @default.
- W2897848103 hasBestOaLocation W28978481031 @default.
- W2897848103 hasConcept C142724271 @default.
- W2897848103 hasConcept C164705383 @default.
- W2897848103 hasConcept C172680121 @default.
- W2897848103 hasConcept C187212893 @default.
- W2897848103 hasConcept C2776395126 @default.
- W2897848103 hasConcept C2776907564 @default.
- W2897848103 hasConcept C2778258057 @default.
- W2897848103 hasConcept C2779234561 @default.
- W2897848103 hasConcept C2780309369 @default.
- W2897848103 hasConcept C2781175549 @default.
- W2897848103 hasConcept C54355233 @default.
- W2897848103 hasConcept C71924100 @default.
- W2897848103 hasConcept C86803240 @default.
- W2897848103 hasConceptScore W2897848103C142724271 @default.
- W2897848103 hasConceptScore W2897848103C164705383 @default.
- W2897848103 hasConceptScore W2897848103C172680121 @default.
- W2897848103 hasConceptScore W2897848103C187212893 @default.
- W2897848103 hasConceptScore W2897848103C2776395126 @default.
- W2897848103 hasConceptScore W2897848103C2776907564 @default.
- W2897848103 hasConceptScore W2897848103C2778258057 @default.
- W2897848103 hasConceptScore W2897848103C2779234561 @default.
- W2897848103 hasConceptScore W2897848103C2780309369 @default.
- W2897848103 hasConceptScore W2897848103C2781175549 @default.
- W2897848103 hasConceptScore W2897848103C54355233 @default.
- W2897848103 hasConceptScore W2897848103C71924100 @default.
- W2897848103 hasConceptScore W2897848103C86803240 @default.
- W2897848103 hasIssue "S1" @default.
- W2897848103 hasLocation W28978481031 @default.
- W2897848103 hasOpenAccess W2897848103 @default.
- W2897848103 hasPrimaryLocation W28978481031 @default.
- W2897848103 hasRelatedWork W1865284104 @default.
- W2897848103 hasRelatedWork W1964838987 @default.
- W2897848103 hasRelatedWork W1979219005 @default.
- W2897848103 hasRelatedWork W2097849639 @default.
- W2897848103 hasRelatedWork W2264180514 @default.
- W2897848103 hasRelatedWork W2368136628 @default.
- W2897848103 hasRelatedWork W2393006031 @default.
- W2897848103 hasRelatedWork W3038154437 @default.
- W2897848103 hasRelatedWork W4247674256 @default.
- W2897848103 hasRelatedWork W4384822189 @default.
- W2897848103 hasVolume "52" @default.
- W2897848103 isParatext "false" @default.
- W2897848103 isRetracted "false" @default.
- W2897848103 magId "2897848103" @default.
- W2897848103 workType "article" @default.