海外マルファン情報

米国マルファン症候群患者団体The Marfan Foundationからの情報を中心に、マルファン症候群や関連疾患についての海外情報を翻訳して発信します。

一般

ERにおける大動脈解離の診断と治療 ~マルファン症候群の臨床的特徴~

Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 6:35-10:55 When we think about conditions associated with dissection in an abnormal aortic wall, first we characterize hereditary aneurysm disorders, some of which have…

開胸・開腹術による胸腹部大動脈の修復 ~マルファン症候群の概要~

Open Thoracoabdominal Repair: Surgery Series (2/16/21) 5:11-8:19 Tonight I'm going to talk about the thoracic, abdominal aorta and its involvement with Marfan syndrome, in particular. I'd like to just say up front that I'm not going to be …

マルファン症候群の基礎知識 ~まとめ~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 28:48~29:28 So in summary, Marfan syndrome is a genetic disorder of the connective tissue which primarily affects the ocular or eye, musculoskeletal and cardiovascular system. まとめに…

マルファン症候群の基礎知識 ~改定ゲント基準~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 21:55~23:25 The revised Ghent criteria are the method by which we make a clinical diagnosis of Marfan syndrome and really what has become of these criteria is that aortic dilation or e…

マルファン症候群の基礎知識 ~検査~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 19:19~21:54 So making a diagnosis, well, is one would hope and one would recommend that the diagnosis is made early and as accurately as possible. 患者さんは診断が付くことを望みますが…

マルファン症候群の基礎知識 ~影響を受ける部位~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) 5:20~7:06 So, what are some of the signs of Marfan syndrome? では、マルファン症候群の兆候とはどのようなものなのでしょうか? Well, the features can be present at birth.Typically, when t…

マルファン症候群の基礎知識 ~原因と有病率~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) (3:32~5:19) So, to start out, Marfan syndrome is a genetic disorder that affects the body's connective tissue. The connective tissue is a substance that's made up of lots of different …

マルファン症候群の基礎知識 ~はじめに~

Marfan 101 9/12/18 (Virtual Medical Symposium Series) セミナー資料: https://info.marfan.org/hubfs/Marfan%20101%20Webinar%20final%20-%20Young.pdf 2:34~3:31 So, today as Eileen had mentioned, it's basically an overview of Marfan syndrome u…

マルファン治療医のやりがいとは

How has a patient's experience changed over the course of your career? I have a number of people who I started treating when they were adolescents or younger, who have now had children of their own and I take care of their children. 私には…

マルファン症候群と運動について

What is the outlook for a person diagnosed with Marfan syndrome? One of the most common questions I receive from parents of children and then eventually from the children themselves is how active they can be, and this has to be individuali…

マルファン症候群の患者数は?

How Many people have Marfan syndrome? There has never been a proper study done to identify the true what we would call prevalence of Marfan syndrome. いわゆるマルファン症候群の正確な患者数を特定するという、正式な研究はこれまで一度も行われ…

マルファン症候群はADHDや知能低下の原因となるか

Does Marfan syndrome cause problems such as ADHD or reduced intelligence? Marfan syndrome does not affect intelligence. マルファン症候群は知能には影響しません。 We've looked at this very carefully and the spectrum of intelligence across th…

マルファン患者の寿命は?

What is the life expectancy of a person with Marfan syndrome? My experience with Marfan syndrome dates back to the late 1970s. And at that time there was neither a medical nor surgical approach that could really lengthen the life expectanc…

突然変異によるマルファン症候群の発症について

What is spontaneous mutation? So we've talked about the situation where one parent has Marfan syndrome. 両親の一方がマルファン症候群であるケースについては、お話しました。 In fact, perhaps as many as a third of children with Marfan syndrome…

マルファン症候群はどのように遺伝するか?

How is the Marfan syndrome passed from one generation to the next? Marfan syndrome is, what we geneticists call is, autosomal dominant condition; autosomal meaning that it doesn't involve either of the sex chromosomes: males and females ar…

マルファン症候群の診断方法について

How is Marfan syndrome diagnosed? Is there a genetic test? We diagnosed Marfan syndrome still by and large based on what we see in looking at a person, clinically examining them. We also rely a lot on the family history.マルファン症候群の…

マルファン症候群の原因は?

What causes Marfan syndrome? I would say for the first century of Marfan syndrome, we really looked at it as, as you say a weakening of the connective tissue. マルファン症候群が知られるようになってから最初の100年は、結合組織が弱いことが原…

マルファン症候群とは?

What is Marfan syndrome? Let me start at the tail end. The syndrome is any condition that has multiple findings so that in fact it means running together. まず「症候群」という言葉から説明します。「症候群」とは、複数の所見が認められる症状の…