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Journals / Bağcılar Tıp Bülteni / 2019 / Cilt: 4 - Sayı: 2

Konjenital Miyotonili Bir Hastadaki Anestezi Deneyimimiz

Anesthesia Experience in a Patient with Myotonia Congenita

Yeşim Cokay ABUT
Serkan ŞİMŞEK
Seher KÖSE
Şenay KIRGEZEN
Kübra BOLAT
Veysel ERDEN
Pages
53–55
DOI
—
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AI Summary & Key Takeaways

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

Aşağıda bir MC hastasıyla ilgili olarak yaşadığımız anestezi deneyimini paylaşmak istiyoruz.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Myotoni konjenita (MC), Thomsen tarafından, 1876 yılında, iskelet kaslarında ortaya çıkan bir hastalık olarak tanımlanmıştır.
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Key Findings & Data:On yedinci kromozomda yer alan klor kanalı geninin (CLCN1) bir mutasyonu sonucunda, hastalarda kas kontraksiyonları ve yorgunluk ortaya çıkar.
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Conclusion & Impact:Aşağıda bir MC hastasıyla ilgili olarak yaşadığımız anestezi deneyimini paylaşmak istiyoruz.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Myotoni konjenita (MC), Thomsen tarafından, 1876 yılında, iskelet kaslarında ortaya çıkan bir hastalık olarak tanımlanmıştır. On yedinci kromozomda yer alan klor kanalı geninin (CLCN1) bir mutasyonu sonucunda, hastalarda kas kontraksiyonları ve yorgunluk ortaya çıkar. Bu hastalarda anestezi altında malin hipertermi gelişebilir. Aşağıda bir MC hastasıyla ilgili olarak yaşadığımız anestezi deneyimini paylaşmak istiyoruz.

Özet

Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue. Malignant hyperthermia may occur in these patients in anesthesia. We presented our anesthesia experience in a patient who suffers from MC in this article

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Cite This Article

ABUT, Y. C., ŞİMŞEK, S., KÖSE, S., KIRGEZEN, Ş., BOLAT, K., ERDEN, V. (2019). Konjenital Miyotonili Bir Hastadaki Anestezi Deneyimimiz. Bağcılar Tıp Bülteni, Cilt: 4 - Sayı: 2, 53–55. https://ajindex.com/articles/144486

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