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 2020-01-01 to 1 year

遺伝カウンセラーの役割 ~こんな要望にもお答えしました~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 47:19-48:27 Alright, so if you're wondering what else your genetic counselor is able to help you with, my most important piece of advice is to just ask. Next slide. 遺伝子カ…

遺伝カウンセラーの役割 ~遺伝子カウンセラーを受診する前にすべきこと~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 44:47-47:17 Okay, so if you have yet to see a genetic counselor and you're wondering how you could best prepare to see one, here are my best pieces of advice. 遺伝子カウンセ…

遺伝カウンセラーの役割 ~遺伝カウンセラーが必要な理由~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 42:30-44:44 So that's we've been talking about all of this. If you found yourself wondering, you know, "Doctors could do genetic testing. Why should I even work with a geneti…

遺伝カウンセラーの役割 ~症例⑧ マルファン症候群の8歳男児 医療過疎地のケース~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 37:39-39:55 All right, so our last case of the day involves an 8-year-old boy, who is very recently diagnosed with Marfan syndrome. He and his family are from a very small ru…

遺伝カウンセラーの役割 ~症例⑦ マルファン症候群の17歳女子 着床前診断と出生前診断・出生後診断~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 35:57-37:39 So one of these options is called pre-implantation genetic diagnosis or PGD for short and this option is best for parents who wish to prevent passing their known …

遺伝カウンセラーの役割 ~症例⑦ マルファン症候群の17歳女子 両親の願い~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 34:06-35:56 So our last set of case examples. Here we'll cover how genetic counselors support their patient's emotional needs and psychosocial concerns. ご紹介する症例も残す…

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 …

遺伝カウンセラーの役割 ~症例⑤ 15歳女子 FBN遺伝子におけるVUS~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 25:12-29:42 So for our next case, we have a 15 year old girl who has been followed by a cardiologist since birth after she was found to have a heart murmur. The heart murmur …

遺伝カウンセラーの役割 ~遺伝子検査からわかること~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 24:01-25:11 So the next very crucial role for many genetic counselors is the interpretation and disclosure of genetic testing results. 多くの遺伝カウンセラーの非常に重要な役…

遺伝カウンセラーの役割 ~症例④ 発達障害を伴う症例~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 22:22-23:57 All right. For our next case, we have a five-year-old little boy with aortic root dilation again and mitral valve prolapse. So he also has very loose joints, whic…

遺伝カウンセラーの役割 ~症例②・③ 検査対象とすべき遺伝子の違い~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 19:18-22:20 So now we'll move on to our next most common rule for genetic counselors. We've already covered this a little bit in the previous case example, but I want to disc…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(4)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 16:46-19:12 We talked about, when we discussed, cascade testing or follow-up testing for his relatives. So in this case, we recommended that both of his children as well as h…

遺伝カウンセラーの役割 ~優性遺伝~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 15:53-16:45 So now that we know that there's a genetic diagnosis, it's also very important to review the inheritance of that diagnosis. 遺伝性疾患ということになれば、遺伝につ…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(3)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 14:25-15:49 So now we're back with our family tree and as you see here, with the change in shading in the father, we've done genetic testing and he's tested positive for a mu…

遺伝カウンセラーの役割 ~遺伝子検査のメリットとデメリット~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 13:16-14:24 So once we've explained what genetic testing is, who should have the test done, the next important step in the discussion is to explain the benefits and limitatio…

遺伝カウンセラーの役割 ~遺伝子パネル検査~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 11:56-13:15 And another really important part of this process is explaining exactly what this testing panel does, which takes us back to a quick high school biology lesson in…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(2)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 10:37-11:56 All right so now that I've finished out drawing out the family tree for this family, what do I usually do next? The very first thing I usually do is review the fa…

遺伝カウンセラーの役割 ~症例① 5歳男児 マルファン症候群の疑い(1)~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 8:00-10:35 All right. Now into a real case example. So the patient we have for case one is a five year-old male, who was referred to our clinic by a pediatrician. His doctor …

遺伝カウンセラーの役割 ~家系図~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 6:06-7:59 So now we'll work our way down that list of genetic counseling roles by running through some specific case examples that help illustrate exactly how genetic counsel…

遺伝カウンセラーの役割 ~遺伝カウンセラーの仕事~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 3:20-6:05 So first to give you a little background on how genetic counselors fit into the medical team, so we're, we're healthcare professionals with a specialized education …

遺伝カウンセラーの役割 ~はじめに~

The Role of the Genetic Counselor - Empowerment Series - 3/14/19 2:00-3:18 Hi, everyone and thank you for joining us this evening. So as Susan mentioned, I work with the cardiovascular genetics team at Texas Children's Hospital, which incl…

低侵襲心臓手術について

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 53:44-55:08 Q:It's a question about minimally invasive heart surgery to repair valves and she's wondering if it might be also possible to use mini…

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…

マルファン症候群に対する大動脈手術の進歩

2020年8月20日 Lars G. Svensson, MD, PhD はじめに コンポジットグラフト術による転帰改善 自己弁温存大動脈基部置換手術はremodeling法からre-implantation法へ 健康で長生きは可能 はじめに 私がマルファン症候群に興味を持ったきっかけは、かなり昔にな…

ロサルタンやβブロッカーを服用中の子どもでは、運動時の心拍数はどのくらいがいいか?

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 47:09-51:09 Q:Can you talk a little bit about a safe heart rate when the child is on losartan or I guess, even on a beta-blocker, you know, what's…

子どもが大動脈解離を発症する可能性はどのくらいか?

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 46:11-47:06 Q:Let me just ask you. You know, people are afraid of aortic dissection obviously. How common is that in children, that something peop…

マルファン症候群での肺疾患の割合と拘束性肺疾患の診断方法について

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 44:26-46:07 Q:This is not about the heart but close to the heart and cardiovascular system. Can you just talk briefly about lung problems in Marfa…

ロサルタンとドキシサイクリンの併用について

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 43:38-44:24 Q:What about combining losartan and doxycycline? Um, somebody says they've read that that can reduce the aortic aneurysm size. ロサル…

ARBのリコールについて

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 42:28-43:34 I mean, I forgot to mention you, you asked me to talk a little bit about the recall on losartan. So as many of you have heard or you k…

ロサルタンの服用を始めるZスコアはどのくらいがいいか?

Children's Heart Issues in Marfan, Loeys Dietz, and vEDS - Virtual Symposium Series (4/9/19) 40:53-42:27 Q:At what z-score would you advise starting losartan? And this particular person says that her son is three years old and the z-score …