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。

Entries from 2023-07-01 to 1 month

LDSガイドラインの改訂に向けて ~LDSマウスでのロサルタンによる動脈瘤予防メカニズム~

LDS Guidelines: Then vs. Now 19:26-21:34 We're now understanding exactly why medications like losartan work in these conditions. Again by work that was done by Elena McFarlane we've learned that cells within the aortic root, so-called seco…

LDSガイドラインの改訂に向けて ~LDSマウスの研究~

LDS Guidelines: Then vs. Now 17:55-21:34 So Elena McFarlane, another investigator at Johns Hopkins, who is in my lab at the time did a beautiful job of assessing mouse models of Loeys-Dietz syndrome. These mice show very dramatic aortic ro…

LDSガイドラインの改訂に向けて ~マルファン症候群、ロイス・ディーツ症候群、シュプリツェン・ゴールドバーグ症候群の比較~

LDS Guidelines: Then vs. Now 16:20-17:51 So we had learned a lot about Marfan syndrome and its relationship to TGF beta. Loeys-Dietz syndrome we now know has six different identified genes. All of them relate directly to the TGF beta signa…

LDSガイドラインの改訂に向けて ~マルファン症候群におけるロサルタンの効果~

LDS Guidelines: Then vs. Now 10:33-16:15 So back 10 years ago we knew that Marfan syndrome related to alterations in the activity of a molecule called TGF beta. That's a mechanism by which cells talk to themselves or talk to each other and…

LDSガイドラインの改訂に向けて ~大動脈手術~

LDS Guidelines: Then vs. Now 7:54-10:15 So one of the big things that differentiated Loeys-Dietz syndrome from Marfan syndrome in the very beginning was this recognition, right? that aortic diameters could show dissections or tears at smal…

LDSガイドラインの改訂に向けて ~第7の原因遺伝子候補~

LDS Guidelines: Then vs. Now 6:30-7:47 So kind of a late breaking also research discovery that we wanted to bring forward is that there was a paper earlier this year that described a possible new Loeys-Dietz gene, so this is not clinically…

LDSガイドラインの改訂に向けて ~LDSの型~

LDS Guidelines: Then vs. Now 4:23-6:27 So again, this is the, the primer that many specialists, most of them from Johns Hopkins, because back in the day we had the most experience with Loeys-Dietz, so our specialist came together to write …

PEARS(Personalised External Aortic Root Support)について

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:05:49-1:07:41 Q:There's a lot of questions about PEARS surgery. Abe, are you comfortable talking about the PEARS? PEARSについての質問を多くいただいています。DeA…

マルファン症候群における大動脈解離の発症率について

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:05:09-1:05:47 Q:What percentage of Marfan patients will experience in aortic dissection or require surgery? マルファン患者で大動脈解離を発症する人の割合、外科手…

子どもが遺伝子の突然変異により発症した場合、両親の画像検査の必要はあるか?

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:04:10-1:05:06 Q:Here's a question my daughter was diagnosed with Loeys-Dietz but dad and I were tested and don't have it. Should we get an echo to check the aor…

内蔵動脈瘤の管理について

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:02:52-1:04:10 Q:Abe, maybe you can answer this if you have, if you know what's typically done with celiac and splenic artery dilations at what size is typically…

親族の大動脈検査について

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:00:51-1:01:29 Q:When to start aortic, how old to start aortic screening relatives? 家系に結合組織疾患患者がいるのですが、その者の親族に対して大動脈の検査を行う…

動脈瘤がある場合に遺伝子検査が不要となる年齢上限はあるか?

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 59:51-1:00:45 Q:One person asked the important question. Is there a recommended age cutoff for peripheral aneurysms when considering genetic testing? 末梢の動脈瘤…

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 ~その他覚えておくべきこと~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 55:40-58:02 And then we've talked about multiple dis.., multiple disciplinary aor.., multi-disciplinary aortic teams multiple times tonight, sometimes called cent…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~QOL(生活の質)~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 54:38-55:36 Another section of the paper was talking about quality of life both in the importance of regular mild to moderate physical activity and if you're not …

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~大動脈弓部の動脈瘤に関する推奨事項~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 53:22-54:33 And and then finally some patients will have an arch, aortic arch aneurysm and they may have symptoms that are attributed to the aneurysm. If, as long…