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 2023-01-01 to 1 year

LDSガイドラインの改訂に向けて ~脚の動脈瘤~

LDS Guidelines: Then vs. Now 24:14-24:39 Some questions have come up about well what about in your legs, what about aneurysms there? They have been reported in the literature, especially aneurysms kind of behind your knees called popliteal…

LDSガイドラインの改訂に向けて ~画像検査~

LDS Guidelines: Then vs. Now 21:49-24:13 In terms of vascular imaging guidelines these have generally remained the same. In the very beginning we are recommending head to pelvis imaging at baseline as well as imaging about every two years.…

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…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~A型解離に関する新たな追加項目~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 51:56-53:18 And then finally and these were some of the biggest talking points that we added on to the, to the regulations for type A dissection. When there is de…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~急性A型解離に対する推奨クラス2Aの推奨事項~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 50:55-51:51 And finally, the, there's class 2A recommendation when it comes to type A aortic dissections and this, this did come from a lot of discussion and that…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~A型解離と腸間膜潅流障害に関する論文紹介~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 49:22-50:51 Some of the reasons why this became a class one recommendation in, in terms of malperfusion, this is paper that came out of the University of Michigan…

大動脈解離が教えてくれたこと

納屋での重労働はお手のもの。自称「ウマ娘」のモーリーは、俵形をした80ポンド(約36キログラム)の干し草を放り投げていました。子供の頃から馬を乗りこなし、丈夫で健康に恵まれていた彼女。ところが、大学入学を数週間後に控えた2017年のこと。息切れと…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~A型解離に関する推奨事項~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 46:22-49:18 For the class, I'm going to go through this fairly quickly. These are the class one recommendations for type A aortic dissections and I've included th…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~妊娠・出産について~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 40:54-46:17 Okay moving on to pregnancy. As Maya commented earlier that the emphasis on shared decision making and the importance of counseling, genetic counselin…

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…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~ロイス・ディーツ症候群に関する推奨事項~

30:17-36:57 This, this slide just emphasizes a little bit of difference in management and Loeys-Dietz syndrome, so in Loeys-Dietz syndrome imaging because aneurysm disease is more widespread than in Marfan syndrome that baseline MR or CT a…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~大動脈基部手術の基準値(マルファン症候群)~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 27:36-30:06 Dr. DeAnda is going to walk us through surgical thresholds in Marfan syndrome aortic root enlargement. では、DeAnda先生からマルファン症候群の大動脈基…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~薬物治療~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 25:57-27:33 Okay, what's new in Marfan syndrome? Well, moving on to medical therapy. Those on the, on the webinar tonight with Marfan syndrome they're probably we…

大動脈疾患の診断と管理に関するACC/AHAガイドライン2022 ~予防的外科手術の目安~

New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 20:53-25:55 Dr. DeAnda is going to talk about some of the surgical thresholds. では、DeAnda先生から外科手術のしきい値についてお話いただきます。 Some of this has c…