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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

ABSTRACT: Intracerebral hemorrhage is rare in term born neonates. Besides several non-genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date. We report a neonate with intracerebral hemorrhage and a de novo intragenic COL4A2 duplication. Although it is not clear yet whether this genetic factor fully explains the clinical phenotype, it may have contributed at least as a risk factor for cerebral hemorrhage. Screening for intragenic COL4A1 and COL4A2 duplications as part of collagen IV diagnostics should be considered as part of the fetal and neonatal work-up for unexplained cerebral hemorrhages and to collect more evidence of the pathogenicity of this genetic mechanism.

SUBMITTER: Koene S

PROVIDER: S-EPMC7839436 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

Koene Saskia S Peeters-Scholte Cacha M P C D CMPCD Knijnenburg Jeroen J de Vries Linda S LS van Scheltema Phebe N Adama PNA Meuwissen Marije E ME Steggerda Sylke J SJ Santen Gijs W E GWE

American journal of medical genetics. Part A 20201128 2

Intracerebral hemorrhage is rare in term born neonates. Besides several non-genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date. We report a neonate with intracerebral hemorrhage and a de novo intragenic COL4A2 duplication. Although it is not clear yet whether this genetic factor fully expla ...[more]

PMID: 33247988

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Rare Missense Functional Variants at <i>COL4A1</i> and <i>COL4A2</i> in Sporadic Intracerebral Hemorrhage.

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| S-EPMC8302151 | biostudies-literature

Examining Transcriptomic Alterations in Rat Models of Intracerebral Hemorrhage and Severe Intracerebral Hemorrhage

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The max-intracerebral hemorrhage score predicts long-term outcome of intracerebral hemorrhage.

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| S-EPMC3910321 | biostudies-literature

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Project description:Decision-making on resuming oral anticoagulant (OAC) after intracerebral hemorrhage (ICH) evokes significant debate among clinicians. Such patients have been excluded from randomized clinical trials. This review article provides a comprehensive summary of the evidence on anticoagulation resumption after ICH.OAC resumption does not increase the risk of recurrent ICH and can also reduce the risk of all-cause mortality. OAC cessation exposes patients to a significantly higher risk of thromboembolism, which could be reduced by resumption. The optimal timing of anticoagulation resumption after ICH is still unknown. Both early (<?2 weeks) and late (>?4 weeks) resumption should be reached only after very careful assessment of risks for ICH recurrence and thromboembolism. The introduction of new oral anticoagulants and other interventions, such as left atrial appendage closure, has provided some patients with more alternatives. Given the lack of high-quality evidence to guide clinical decision-making, clinicians must carefully balance the risks of thromboembolism and recurrent ICH in individual patients. We propose a management approach which would facilitate the decision-making process on whether anticoagulation is appropriate, as well as when and how to restart anticoagulation after ICH.

| S-EPMC5960649 | biostudies-other

Management of Spontaneous Intracerebral Hemorrhage.

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Project description:Intracerebral hemorrhage (ICH) imparts a higher mortality and morbidity than ischemic stroke. The therapeutic interventions that are currently available focus mainly on supportive care and secondary prevention. There is a paucity of evidence to support any one acute intervention that improves functional outcome. This chapter highlights current treatment targets for ICH based on the pathophysiology of the disease.

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Intraventricular hemorrhage expansion in patients with spontaneous intracerebral hemorrhage.

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| S-EPMC4352099 | biostudies-literature

Intracerebral Hemorrhage Induces Inflammatory Gene Expression in Peripheral Blood: Global Transcriptional Profiling in Intracerebral Hemorrhage Patients.

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| S-EPMC6909779 | biostudies-literature

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