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)

結合組織疾患における消化器疾患に関するQ&A

結合組織疾患における全般的な消化器の懸念 結合組織疾患患者で最も一般的な消化器の問題とは? 診断と治療法 専門医にかかるべきタイミング、サイン、専門知識のある医師や医療機関を受診することの重要性について 標準的な消化器の薬(例 プロトンポンプ阻…

セリプロロールの代替薬について

Managing HTAD: Key Insights from the 2024 ESC Guidelines 59:57-1:03:02 Q: There is a question here about Celiprolol not being available in the United States, but currently, you can go into a trial with Celiprolol within the United States. …

vEDSの特徴について

Managing HTAD: Key Insights from the 2024 ESC Guidelines 45:34-51:49 Q: So this patient is a newly diagnosed with vEDS at 51 years of age and she's asking whether the condition lies dormant or has she had it since birth because she didn't …

2024 ECSガイドラインについて 〜ロサルタンと薬物療法について〜

Managing HTAD: Key Insights from the 2024 ESC Guidelines 42:12-43:27 Furthermore, for medical therapy, we advise Losartan, and why is this the case? This was a study done already in 2006, where it was shown that in mice, if you look at the…

2024 ECSガイドラインについて 〜MFS、LDS、vEDSの違い〜

Managing HTAD: Key Insights from the 2024 ESC Guidelines 33:45-38:03 So first I would like to share some differences between Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome, which I will get back to later. 私からはまず、MF…

2024 ECSガイドラインについて 〜薬物療法〜

Managing HTAD: Key Insights from the 2024 ESC Guidelines 28:35-29:22 Talking about medical treatment briefly, so Marfan syndrome, there's evidence in Marfan syndrome for beta blockers or an angiotensin receptor blocker (ARB), so losartan a…

Tromsø Aorta 2024 からの報告 ~vEDSにおける薬物管理~

Tromsø Aorta 2024 Recap with Dr. Kim Eagle 13:03-15:02 One of the really interesting talks that we heard in Tromsø was a trial that is looking at the management of patients with vascular EDS. This was a small study, I think less than 60 pa…

小児の大動脈解離発症リスクについて

Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy 44:00-48:06 Q: For the shared decision making, it would be helpful to know, uh, to better, to know, excuse me, to know better estimates of …

VEDSにおけるカテーテルアブレーションについて

Aging with a Connective Tissue Condition 48:24-49:08 Q: Are cardiac ablation safe for individuals with VEDS? カテーテルアブレーションはVEDS(血管型エーラス・ダンロス症候群)の患者でも安全にできますか? A: Well, that's a good question. That…

ナタリーが遺してくれたもの

2024年9月18日 The Marfan Foundation 注意:この物語では、小児期における致命的な大動脈解離が詳細に描写されています。VEDS(血管型エーラス・ダンロス症候群)が広く認知されることにより、多くの命が救われることを目的として公開されるものです。 「こ…

婦人科の外科手術について

Women's Health: Beyond Family Planning 51:07-54:40 Q:Another common question that we are hearing about is if there are any special consideration for people with Loeys-Dietz for gynecological surgeries like hysterectomy, tubal ligation, etc…

動脈瘤・解離の管理 ~カテーテル挿入部位の処置~

Vascular Surgery 12:15-13:18 And this is just a comment on access sites because as I said you go through the femoral artery when we do these and so we have to be careful with the way we close the femoral artery so that we don't have pseudo…

動脈瘤・解離の管理 ~コイル塞栓術とステント術~

Vascular Surgery 10:10-13:18 So when we talk about endovascular repair you've heard two terms. You've heard embolization and you've heard stenting but basically these are what we call minimally invasive procedures. We perform them through …

動脈瘤・解離の管理 ~vEDS/LDS/MFSでの動脈疾患分布~

動脈瘤・解離の管理Vascular Surgery 3:29-5:23 You've seen this picture. This is from Gustavo Oderich's paper where a few years ago he talked about the distribution of arteriopathy in vascular EDS and then on the right hand side is our paper…

疾患別画像検査の頻度と種類について

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 58:58-59:50 Q:Here's a question when my husband and children go to their cardiology appointments do they need an MR, CT as well as an echo? 夫と子供が循環器内科で…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~血管型エーラス・ダンロス症候群に関する推奨事項~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 38:08-40:48 Moving on to vascular Ehlers-Danlos syndrome in, and in vEDS. In imaging the aorta and the branches is very important because it may identify arterial…

妊娠・出産について(アメリカ・ヨーロッパの専門医の視点から) ~影響のある脊椎所見~

Family Planning and Pregnancy: US and Europe Perspectives 56:04-57:40 Now cervical instability is another, another spiral manifestation that has an increased risk in Loeys-Dietz syndrome. This can be assessed with an x-ray of the cervical …

血管型エーラス・ダンロス症候群について

血管型エーラス・ダンロス症候群の別名 血管型エーラス・ダンロス症候群の患者数 血管型エーラス・ダンロス症候群の臨床的特徴 血管型エーラス・ダンロス症候群の原因 血管型エーラス・ダンロス症候群の診断 血管型エーラス・ダンロス症候群の寿命 血管型エ…

大動脈疾患に関する研究報告(Science in Paris) ~血管型エーラス・ダンロス症候群~

Aortic Disease Research (9/19/22) 32:19-34:52 So vascular Ehlers-Danlos represents a really important effort of the foundation and of scientists around the world and I would like to suggest that in some ways with vascular EDS we're just be…

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 …