遺伝子
Managing HTAD: Key Insights from the 2024 ESC Guidelines 17:22-28:34 I want to address with you some aspects of genetics and how these have now been included in much more detail in the guidelines than in the previous version. Before contin…
Tromsø Aorta 2024 Recap with Dr. Kim Eagle 15:06-22:54 You know, if you look at the journey we've been on for the last 24 years in genetics, it's astonishing. If you look at the graph and the number of genes that have been identified to be…
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
LDS Guidelines: Then vs. Now 1:04:25-1:07:52 Q:Kind of along the lines of medication in that first question or that first slide we were talking about non-penetrance. Can you talk a little bit just about your thought process when you're cou…
LDS Guidelines: Then vs. Now 24:41-26:25 In our 2014 guidelines we didn't really address any specific variant information and so that means that, you know, we have these six different types of Loeys-Dietz syndrome with gene variants or gen…
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…
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 14:07-17:03 So what we're going to do over the next half hour or so is we're going to review some of the topics that are encompassed in the new guidelines based o…
Family Planning and Pregnancy: US and Europe Perspectives 1:01:15-1:02:49 Now another important thing is that postpartum you have multiple mom and baby so we're going to shift our attention to include the well-being of the child and their …
Aortic Disease Research (9/19/22) 23:25-28:00 The Marfan syndrome presentations were numerous and, and almost too many to cite. I pulled just a couple. マルファン症候群については、多くの発表がありました。その中からいくつかご紹介します。 Th…
Advances in the Treatment of Aortic Dissection 26:58-29:11 So there's this question of the Phenotype-Genotype interplay. We know that certain gene mutations within the Marfan family are associated with a higher rate of ectopia lentis or sk…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-48:22 Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids? MacCarrick: 親のLDS型と…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …
Marfan Syndrome Management: Back to Basic 7:23-8:15 So what about genetic testing? So, you know, historically we, not everyone got genetic testing. You could just look at someone and say, "Well, I think they probably have Marfan syndrome,"…
Marfan Syndrome Management: Back to Basic 5:41-7:22 So I'm just showing genetics over here just showing a gene or a, a chromosome. If you guys remember from school we all we have 46 of these chromosomes that sit here. There's 23 pairs of c…
Living with Risk 28:32-30:17 Here's a patient who has vEDS and Loeys-Dietz, VUS. So this is a not exactly a disease-causing mutation has had a pneumothorax and so what imaging does this person need. vEDSとLoeys-Dietz症候群両方の遺伝子検査…
Living with Risk 23:53-25:39 So then, there's another question. "What advice can you offer for sharing new diagnostic, diagnostic information with other family members who have not been tested but may be similarly affected..." 「遺伝子検査…
Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 8:10-10:50 Okay, so along those lines let's talk about some important concepts about genes, environment and what we call G x E or that's genes by environment interaction. では…
Living a Life with LDS (September 12, 2020) E3 Summit 21:38-24:36 What about the distribution of the occurrence of those genes? ではLDSのタイプ分布を見てみましょう。 The most common one is is still TGF-beta receptor 2, which is about half …
Living a Life with LDS (September 12, 2020) E3 Summit 19:03-19:54 So overall we do have now at least five established genes. Receptor 1, receptor 2, SMAD3, TGF-beta 2 and 3. これまでの研究から、LDSの原因遺伝子として少なくとも5種類（TGFBR1…
