Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2009 / Cilt: 43 - Sayı: 3

Cerebral venous thrombosis in a patient with heterozygous methylenetetrahydrofolate reductase (C677T) polymorphism

Heterozigot metilentetrahidrofolat reduktaz (C677T) polimorfizmini taşıyan bir hastada gelişen serebral venöz trombus

Pages
131–133
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this article we report a child with cerebral venous thrombosis and heterozygous methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism after otomastoiditis.

📌 3 Key Takeaways

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Objective & Hypothesis:Venous thromboembolism is decribed as a multifactorial disorder including both congenital and acquired risk factors and generally detected in elder patients.
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Key Findings & Data:Although cerebral venous thrombosis (CVT) is associated with substantial mortality and morbidity, its causes in children have not been intensively investigated, mainly because it occurs at a low frequency (0.67 per 100000 children).
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Conclusion & Impact:In this article we report a child with cerebral venous thrombosis and heterozygous methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism after otomastoiditis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Polimorfizm · genetik · Çocuk

Abstract

Venous thromboembolism is decribed as a multifactorial disorder including both congenital and acquired risk factors and generally detected in elder patients. Although cerebral venous thrombosis (CVT) is associated with substantial mortality and morbidity, its causes in children have not been intensively investigated, mainly because it occurs at a low frequency (0.67 per 100000 children). But the reports of thrombotic events in children are increasing. Methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism has been detected as an important role in inherited thrombophilia in recent years. In this article we report a child with cerebral venous thrombosis and heterozygous methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism after otomastoiditis.

Özet

Venöz tromboembolizm kalıtsal ve edinsel risk faktörlerinin etkileşimi sonucu ortaya çıkan ve genellikle erişkinlerde görülen multifaktöryel bir patolojidir. Serebral venöz trombus, önemli morbidite ve mortalite nedeni olmasına rağ- men, çocuklarda sıklığının az olmasi nedeniyle (100000de 0.67) detaylı incelenmemiştir. Ancak cocuklarda da trombotik olaylarla ilgili raporların giderek artıs gösterdiği izlenmektedir. Methylentetrahidrofolat reduktaz (MTHFR) geninde C-T (C677T) degişimi son yıllarda genetik trombofilinin etiyolojisinde önemli bir rol oynamaktadır. Bu makalede otomastoidit sonrası serebral venöz trombus gelişen ve metilentetrahidrofolatredüktaz (MTHFR) geninde C677T polimorfizmini heterozigot olarak taşıyan bir çocuk hasta bildirilmiştir.

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Cite This Article

KAYIRAN, S. M., ZÜLFİKAR, B. (2009). Cerebral venous thrombosis in a patient with heterozygous methylenetetrahydrofolate reductase (C677T) polymorphism. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 43 - Sayı: 3, 131–133. https://ajindex.com/articles/363953

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