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。

オンラインセミナー

ERにおける大動脈解離の診断と治療 ~急性大動脈疾患~

Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 1:42-2:31 When we think of acute aortic syndromes aortic dissection is the most classic and is responsible for 80 to 90 percent and in this cross section of the aortic …

ERにおける大動脈解離の診断と治療 ~大動脈解離とは~

Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 0:03-1:40 Hello, my name is Alan Braverman and today we'll discuss what is aortic dissection and who is at risk. This is part of the aortic diseases awareness week lect…

SMAD2遺伝子単体の遺伝子検査は推奨されるか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…

変異型の多様性を生み出す要因は?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…

ロイス・ディーツ症候群が疑われる症例での大動脈手術の判断について

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 58:16-1:01:46 So say that there is someone who has an aortic root or ascending aneurysm, there's no known family history, their genetic testing has thus fa…

ロイス・ディーツ症候群と眼の疾患

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 56:57-58:04 What type, this is kind of a clinical question, but we'll take a detour. Is there any specific type of eye muscle disorder present in LDS, spec…

遺伝子変異はいつ起きる?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…

TGFBR1遺伝子内のVUSは病原性か?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…

ロイス・ディーツ症候群の病態は後の世代ほど重くなるか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 48:25-49:46 For, families that have like multiple generations of Loeys-Dietz syndrome, someone is asking a question that in the third generation it appears…

LDS患者である親と子どものLDS型が異なることはあるか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-48:22 Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids? MacCarrick: 親のLDS型と…

全エクソームシーケンス解析が有益と考えられるケースは?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …

家族内でのロイス・ディーツ症候群の特徴の違い

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 39:36-42:15 Can siblings be very different in their LDS journey and does being male or female make a marked difference? This person has one person, a male …

亡くなっている家族のDNA検査はできるか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 38:00-39:34 Is there a way to find out if a family member that has already passed had the gene? We've had some family members that have had similar health …

遺伝子検査でロイス・ディーツ症候群が確定しない場合はどうするか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 34:01-37:57 Should relatives who show characteristics of Loeys-Dietz syndrome including aortic dilation yet don't test positive for the family's identified…

ロイス・ディーツ症候群の遺伝学 ~Biglycan~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…

ロイス・ディーツ症候群の遺伝学 ~重篤な病態を引き起こす変異~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…

ロイス・ディーツ症候群の遺伝学 ~アレルギー・出産~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 28:47-29:58 In terms of variability of allergic and GI disease, this has been observed in types 1 and 2 Loeys-Dietz syndrome. It's really an unknown right …

ロイス・ディーツ症候群の遺伝学 ~タイプ別の大動脈手術適応サイズ~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 27:42-28:46 You know, some other places where you have noticed some variability that has helped us to kind of figure out different guidelines to take care …

ロイス・ディーツ症候群の遺伝学 ~各タイプの比較~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 24:51-27:41 So I just thought I'd put up some slides that go through the patients in the initial publications for Loeys-Dietz syndrome, so you can see how …

ロイス・ディーツ症候群の遺伝学 ~結合組織疾患における全身的特徴の比較~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 21:20-24:50 So in terms of variability we do know that there are variable systemic manifestations that are suggestive of Loeys-Dietz syndrome. Things that …

ロイス・ディーツ症候群の遺伝学 ~TGF-βシグナル伝達経路上の原因遺伝子~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…

ロイス・ディーツ症候群の遺伝学 ~常染色体優性遺伝とデノボ変異~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…

ロイス・ディーツ症候群の遺伝学 ~遺伝子検査結果の分類~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …

ロイス・ディーツ症候群の遺伝学 ~全エクソームシーケンス解析~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 15:50-16:56 So in addition to panel testing for aortopathy some people get, come to a genetic diagnosis because they have a testing technology available th…

ロイス・ディーツ症候群の遺伝学 ~遺伝子と結合組織疾患~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …

小児が大動脈基部手術を受ける場合の大動脈サイズ

Marfan Syndrome Management: Back to Basic 56:44-59:14 How common are is, how common is it for a pediatric patient to require aortic surgery and what does the measurement and should people worry about that? Eileen:お子さんが大動脈手術を受け…

妊婦における胸腹部動脈瘤

Marfan Syndrome Management: Back to Basic 54:40-56:43 Can we go back to the abdominal aortic aneurysm for a second? How does that affect pregnancy, what would be your recommendation for that if somebody has an aortic aneurysm, an abdominal…

上行大動脈と腹部大動脈の動脈瘤

Marfan Syndrome Management: Back to Basic 52:13-53:30 Dr. Malaisrie, are there protocols for aneurysms in the ascending aorta above the root. Is that different from aor, aneurysms at the root? Maisrie先生に質問です。大動脈基部の先にある上…

子どもの身長を予測する方法

Marfan Syndrome Management: Back to Basic 50:56-52:11 Dr. Morris, is there any way of knowing how tall a child will be by the time they finish growing? Morris先生に質問です。子どもの成長が止まるまでに身長がどのくらい伸びるか知る方法はあり…

大動脈基部手術から退院までの日数

Marfan Syndrome Management: Back to Basic 49:41-50:32 Over to Dr. Malaisrie, typically how long are you in the hospital for aortic surgery if it's prophylactic, you know, and then how long is the recovery after once you go home assuming th…