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。

血管型エーラス・ダンロス症候群(vEDS)

ERにおける大動脈解離の診断と治療 ~血管型エーラス・ダンロス症候群の臨床的特徴~

Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 9:49-10:55 Vascular Ehlers-Danlos syndrome is one of the rarer causes of familial aneurysm disorder, affecting about one in fifty to a hundred thousand individuals due …

COVID-19 最新情報(2022/04/22)

COVID-19 Q & A (April 2022) はじめに BA.2 変異株について BA.2 変異株の影響 ワクチンについて ワクチンの追加接種について 小児のワクチン接種について 小児のワクチン接種に関する研究からわかること マルファン関連疾患に対するCOVID-19の影響 はじめ…

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 …

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…

マルファン関連疾患児の発達障害・行動障害・学習障害 ~vEDS、LDSの所見~

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 17:55-19:24 Well, what about vEDS and LDS? You know, of course, this is a condition, these conditions are much less prevalent than Marfans, I think it's probably 25 to 50 perc…

運動に関するオンライン座談会 ~パネリスト③ 12歳男児(血管型エーラス・ダンロス症候群)の母親~

Personal Perspectives Panel: Physical Activity & Exercise 30:07-31:44 We have another perspective now and this is Morgan's perspective as a parent of a, of a son with more with, with vEDS so go ahead, Morgan. 最後はモーガンさんです。モーガ…

運動に関するオンライン座談会 ~マルファン関連疾患アスリートの運動ガイドライン~

Personal Perspectives Panel: Physical Activity & Exercise 18:49-20:51 So looking at the best data that we have available what do the guidelines recommend regarding competitive sports in people with Marfan syndrome and related disorders? Ma…

真腔と偽腔の大きさの比率は手術タイミングや手術結果に影響するか?

Open Thoracoabdominal Repair: Surgery Series (2/16/21) 51:51-53:58 Q:Does the relative size of the true and false lumen have any impact on surgical thresholds and surgical outcomes? 大動脈での真腔と偽腔の大きさの比率は、手術を検討する基準…

真腔と偽腔の大きさの比率は手術タイミングや手術結果に影響するか?

Open Thoracoabdominal Repair: Surgery Series (2/16/21) 51:51-53:58 Q:Does the relative size of the true and false lumen have any impact on surgical thresholds and surgical outcomes? 大動脈での真腔と偽腔の大きさの比率は、手術を検討する基準…

新型コロナウイルス感染症と大動脈疾患についての最新研究 ~その他の高リスク疾患について~

Covid and Aortic Conditions: The Latest Research 16:19-18:59 You know, several of our other genetic aortic conditions do have other issues that may put them at a higher risk. So Enid, do you want to go over that? I think some of these are …

遺伝カウンセラーの役割 ~症例⑥ 16歳男子 COL3A1遺伝子におけるVUS~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 29:43-34:04 So our next case, we have a 16-year-old boy, who is very tall, very slim. He has notably long fingers and toes and he also has a very mild curvature or scoliosis …

MRI検査はどのくらいの頻度で受ければいいか?

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 51:56-53:42 Q:So what about the scheduling of MRI monitoring from head to pelvis, is different from Marfan, Loeys-Dietz, vEDS? MRI検査はどのくらい…

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~運動について~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 32:43-35:34 In terms of physical activity and exercise, there are many benefits to exercise. We all realize that and I think that exercise can be …

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~血管型エーラス・ダンロス症候群に対する薬物療法~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 31:17-32:19j There's not very much information about medical therapy for patients with vascular EDS. This is a result of a study that was publishe…

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~共通の心疾患(2)~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 14:38-16:27 We already mentioned arterial tortuosity and here again are the pictures of the vertebral arteries in patients with Loeys-Dietz. We di…

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~共通の心疾患(1)~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 12:10-14:37 So just some basic cardiac anatomy. This is simple and what most people already know this but I wanted everybody to understand that. …

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~共通の特徴~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 10:30-12:09 I want to make a point about all of these connective tissue, syndromes. All of these pieces apply but I want to focus right now on two…

マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群小児の心疾患について ~血管型エーラス・ダンロス症候群とは~

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 9:16-10:29 In terms of vascular Ehlers-Danlos, here's a picture of Dr. Ehlers and Dr. Danlos. This, in contrast, is a syndrome that's caused by mu…