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。

Q & A

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…

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…

遺伝子検査の現在

Marfan Syndrome Management: Back to Basic 47:28-49:41 Dr. Morris, can you discuss the array of genetic testing available for Marfan-related conditions including... Morris先生、マルファン関連疾患の遺伝子検査について教えて下さい。 Sure and i…

平均寿命に到達するために必要なこと

Marfan Syndrome Management: Back to Basic 45:16-47:28 Can each of you talk about life, life expectancy, you know, whether somebody's diagnosed early, you know, what, what's the impact on life expectancy from aortic surgery? Question about …

経過観察中の運動と術後の運動について

Marfan Syndrome Management: Back to Basic 42:13-45:13 There are several questions about physical activity and Marfan syndrome and Loeys-Dietz, so Dr. Morris, can you just talk about that from, you know, from diagnosis and while you're moni…

大動脈手術後のリスク

Living with Risk 56:30-57:36 Several people are asking about risks after aortic surgery so Juan, do you want to talk about that from the aortic point of view? 大動脈手術後のリスクについてもいくつか質問が寄せられています。Juan先生、大動脈の…

診断にどう対処するか

Living with Risk 52:58-56:20 So Karen, there's a question about children seeking therapy to cope with their diagnosis. What's your feeling on that and then Glen, I'd love to know if you've had conversations with any of your families. Karen…

大動脈解離の徴候

Living with Risk 46:08-51:26 I want to start with one thing that kept coming up in some of the questions that even were submitted the last couple days and this is about the worry about when is an emergency, in emergency. I mean let me tell…

マルファン関連疾患の子どもを育てる上で重要なこと

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 56:52-1:00:18 What is the most important thing to consider when raising children with Marfan or Loeys-Dietz or vEDS? Marfan症候群やLoeys-Dietzs症候群、血管型Ehlers-Danlos症候…

発達障害の子どもにマルファンのことを伝えるには

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 51:12-56:46 So I think I have a question, I think this goes along with role modeling that you were talking about, Allan, where like a parent wants to, once, wants to know how …

空間認識能力とは

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 49:54-51:12 Mark, can you explain more about the visuospatial versus verbally you talked about? I think people want specific examples of what you mean by visuospatial. Mark先…

マルファン関連疾患児の発達障害・行動障害・学習障害 ~背の高さに関する悩み~

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 47:22-49:53 So can we just talk a little bit about social development because people want to know, like when, when a child's diagnosed, then they transition into adolescence, …

結合組織疾患でも筋肉は付くか?

Personal Perspectives Panel: Physical Activity & Exercise 56:38-58:17 Mary, I wanted to ask you because Alan, you know, Alan's talking about all this weight work. A lot of people are worried about, are concerned about building muscle mass …

体育の授業について

Personal Perspectives Panel: Physical Activity & Exercise 46:27-47:42 Thank you for that. Mary, I just want to, I don't want to ask you the same question because Alan kind of answered that but maybe you can adjust more or something that so…

運動に関するオンライン座談会 ~医師による質問への回答~

Personal Perspectives Panel: Physical Activity & Exercise 44:12-46:26 Some of the questions were about, you know, what is an orthopedist, the right person? It might be, it might be a chiropractor, an orthopedist, a physiatrist, a physical …