Podcasts about marfans

We are 2 weeks from our season finale! Sign up for our mailing list and get your free ebook while there is still time at travelmedicinepodcast.comIn this classic episode from the vault, Dr's J and Santhosh discuss Disney Medicine. Along the way, they cover wishing upon a star, Cinderella Dermatosis, how not to clean a fireplace, color coordinating fairy spells with pumpkins, poison apples, the first cartoon anesthesiologist, the medical degree of Doc, Japanese pufferfish tetrodotoxin, Sleeping Beauty Syndrome, Dwarfism, Medical Etymology, Skeletal Dysplasias, discarded dwarf names, Angleman Happy Puppet Syndrome, The little mermaid and vocal cord dysfunction, Pocahontas and synesthesia, Jafar and Marfans, the dubious politics of Agrabah, REM Behavior disorders, and why you shouldnt kiss frogs to find your prince. So Sit back, wish upon a star, and prepare to learn the hidden medicine of Disney characters! We'll be back next week with a brand new episodeSupport Us spiritually, emotionally or financially here! or on ACAST+travelmedicinepodcast.comX/Twitter: @doctorjcomedy @toshyfroGmail: travelmedicinepodcast@gmail.comSpotify: https://open.spotify.com/show/28uQe3cYGrTLhP6X0zyEhTFacebook: facebook.com/travelmedicinepodcastPatreon: https://www.patreon.com/travelmedicinepodcast Supporting us monthly has all sorts of perks! You get ad free episodes, bonus musical parody, behind the scenes conversations not available to regular folks and more!! Your support helps us to pay for more guest interviews, better equipment, and behind the scenes people who know what they are doing! https://plus.acast.com/s/travelmedicinepodcast. Hosted on Acast. See acast.com/privacy for more information.

4.04 Systemic Lupus Erythematosus Rheumatology review for the USMLE Step 1 Exam Marfan's syndrome, Ehlers-danlos, and homocystinuria are three distinct diseases that affect connective tissue. They share some clinical features like tall stature, long fingers, scoliosis, high arched pallet, chest wall deformities, joint hypermobility, and lens dislocation. Marfans is caused by a mutation in the FBN1 gene, resulting in defective fibrillin-1, and the main complication is aortic root dilation. Homocystinuria is a metabolic disorder caused by a defect in homocysteine breakdown, leading to elevated levels of homocysteine, and the main complication is thrombosis. Ehlers-Danlos is caused by a deficiency in type III collagen, and the main complication is vascular rupture. Marfans has an upward lens dislocation, homocystinuria has a downward lens dislocation, and Ehlers-Danlos has hyperextensible skin and joint hyperextensibility. Marfans usually presents in teens, homocystinuria in children, and Ehlers-Danlos in young adults. Patient presentations: Marfans - scoliosis, long fingers, and caved in chest wall in a tall teen; Homocystinuria - developmental delay, long fingers, and tall stature in a child; Ehlers-Danlos - recurrent bruising, hyper extensible skin, and joint hyperextensibility in a young adult.

With multiple disabilities including Loeys-Dietz Syndrome, Marfans, and POTS, Celia Hensman lives with a permanent central line in her chest through which she receives daily blood infusions and complete artificial nutrition. She has never known life without being disabled. In 2021, on The International Day of People with Disabilities, Celia launched The Disability Policy Centre. Disabled-led and dedicated to the advancement and development of policy, they work to ensure that accessibility is at the heart of conversation, consultation, and legislation. Regarding disabilities, policies of truth can only be enacted with inclusion and accessibility. This exclusive interview is found in 'The Breath Edition' of AwareNow Magazine: www.awarenowmagazine.com Featuring: Celia Hensman Interviewed by: Allié McGuire Music by: Ramol Produced by: Awareness Ties --- Support this podcast: https://anchor.fm/awarenessties/support

Episode 34: Health Coaching For Teens With Guest Denise Archilla, MSW In this episode, guest Denise Archilla discusses chronic illness coaching! Some struggles young folks with chronic illnesses face include unpredictability of age during a time of transition, trying to blend in with peers, social media, people being able to video tape mistakes, accessing education, friendships, friend groups changing, limitations in things they can do with their friends, fatiguing easily, not being able to keep up with friends, judgment of others when you don't look sick,and  being seen in public with a wheelchair or feeding tube. For schools, issues include absences, if they are homeschooling vs able to attend school in person, accommodations, being comfortable using accommodations,and  dealing with symptoms of chronic illness while in school. With family, struggles include parents removing their autonomy and independence, family members not understanding, sibling issues, family members not believing the young adult, family members not wanting to hear about the condition, family undermining treatment, and breaches in boundaries. She recommends finding a strong social support network, finding a group of friends with chronic illness, finding someone to help you navigate through difficult periods in life, and acknowledge and stick to  your limits. Disclosure is up to you. To help advocate for yourself,  can be responsible for self-care and your medication, educate yourself on your condition, journal, educate others around you about your condition, set boundaries about the information you are taking in, find allies, and set yourself up for success.   Chronic Warrior Collective Chronic Warrior Coaching Youtube   Facebook Instagram Pinterest         eds society       Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 33: Paul Forchione's Story of Living With Cerebral Palsy In this episode, Paul Forchione shares his story of living with Cerebral Palsy. He was diagbnosed with CP at 2-3 months old. The CP affects mostly his right side. He started physical therapy on a daily basis, which allowed him to learn to walk. Surgery on the tendon on the right side of his foot also helped improve his mobility. His increased mobility after this surgery helped him feel like he was able to fit in with his peers better. He experienced discrimination by peers in middle school. He also experienced discrimination from the principal after performing poorly on one test. After that, he decided to set a goal for himself to make the varsity baseball team in high school. This goal helped give him more confidence, and the kids in his school started treating him more kindly. This goal was so successful that he set another goal of getting into college and he then raised his GPA high enough to go to a 4-year university and graduate from college. For a long time, he didn't want to disclose to people about his CP. It upset him greatly. Eventually, he realized the benefit of vulnerability and began to disclose about his condition. He copes by setting goals for himself and changing his mindset. For maintenance of his condition, he continues to exercise his body.   Website: Facebook Group       Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 32: Hannah Budde's Story of Hypermobile Ehlers Danlos Syndrome and Mild TBI In this episode, guest Hannah Budde shares her story with mTBI and hypermobile EDS. She also has POTS, pelvic floor dysfunction and prolapse, interstitial cystitis, craniocervical instability, asthma, and thoracic outlet syndrome. She has experienced several head injuries. Her last one was in 2013, and she experienced brain fog, fatigue, and head and neck pain. She went to a brain injury clinic, which was really helpful for her. In 2018, she moved and she was involved in physical rehabilitation, where a neuropsychologist told her that her problems were all anxiety and mood and was very dismissive. She tried lots of treatments for her condition, to no avail. After receiving poor treatment, she found a neuroophthalmologist who did a more thorough examination and suspected that Hannah had EDS. She saw Dr. Zingman, an EDS specialist, where she was diagnosed with EDS. She underwent testing for POTS, and the diagnosis was confirmed. She received a lot of new diagnoses in the past year. She recently started with a new physical therapist, which has been very helpful for her. She learned to advocate for herself not only with doctors but within her family. She makes sure to prioritize her health and her wellbeing. She gets creative with parenting, to make sure she cares for her children and takes care of herself. She adapts her parenting by doing a lot of sitting on laying on the ground, putting a stool next to the car to help them climb in the car by themselves, refraining from lifting her kids, minimizing physical activity, energy conservation, planning, fatigue management, and use of a babysitter. She copes by using medications, physical therapy, deep breathing, using a neck brace, distraction, talking to friends, and using Instagram. She is honest with people in asking for what she needs and letting her know her limits.   Instagram Muldowney Method Untamed book Marriage Equity Calculator The Great Chore Audit   Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 31: Dafne Wiswell's Story of Raising Children With Type 1 Diabetes and Ankylosing Spondylitis In this episode, Dafne Wiswell discusses her son's experience with Diabetes Type 1 and her daughter's experience with juvenile arthritis and Ankylosing Spondylitis. Her son was diagnosed with Diabetes when he was 2. He started having accidents, drinking a lot of water, had reduced appetite, and experienced intermittent vomiting. Once a friend wasn't able to recognize her child, she called the pediatrician ASAP. The pediatrician ran a bunch of tests and sent them immediately to the hospital where he was found to be in diabetic ketoacidosis. Treatment has included insulin, initially being injections and later using the pump. He also has a service dog that will sense when his blood sugar is low.   Her daughter started to experience pain starting at age 6. She took her daughter to a pediatric rheumatologist, where she was diagnosed with psoriatic juvenile rheumatoid arthritis. She was later diagnosed with Ankylosing Spondylitis. She has tried numerous medications for her conditions, but thus far, nothing has really worked. She is currently doing infusions once a month.   Challenges have included learning how to help a child who has a potentially life-threatening condition, learning to recognize and treat patterns, helping her child have a normal childhood and learn to manage his diabetes, finding ways to make it safe for her son to go out with friends, maintaining a romantic relationship, and having  limitations on travel. She has advocated for her children by teaching them their rights, helping  him learn how to advocate for himself at school, and finding less expensive ways to get medications for her children. She copes by prayer, allows herself to feel her emotions, knowing that her children can still live a good life, using social support, and removing toxic people from her life.   She recommends starting earlier with helping your children learn to advocate for themselves, helping them be informed about their healthcare, telling them to shop around for prices for supplies and insurance, and knowing  your child's rights. Instagram Facebook Website T1D Mod Squad Facebook Group Kids Get Arthritis Too         Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 30: Dafne Wiswell's Story of Rheumatoid Arthritis and Hashimoto's Thyroiditis In this episode, Dafne Wiswell shares her story of Rheumatoid Arthritis and Hashimoto's Hypothyroidism. Through diet, spirituality/faith-based practices, setting boundaries, and practicing forgiveness, she was able to eliminate Rheumatoid Arthritis from her experience. She was diagnosed with RA based on imaging. Six months later, she was experiencing extreme fatigue and was sent for bloodwork, which revealed Hashimoto's Hypothyroidism. She goes out of her way to find good doctors and advocates for herself by leaving doctors if they do not provide good care. Her current regimen consists of a thyroid supplements. She advocates for herself heavily with insurance companies. She coped using psychotherapy, social support, engaging in self-care, spending time with people who make her laugh, resting, eating, exercising, and spending time in nature. Flares are usually triggered by stress.   Instagram Facebook Website Dr. Caroline Leaf 21 Day Brain Detox     Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 29: Raising a Child With Marfan Syndrome With Guest Allison Pullins In this episode, Allison Pullins discusses her experience raising a child with Marfan Syndrome. James was diagnosed with this connective tissue disorder when he was 2 years old. He experiences an aortic aneurysm, is very nearsighted, has dislocated lenses in his eyes, and low muscle tone. The first signs of something different was asymmetry in James' eyes. Things were fine at the first eye doctor appointment, but 6 months later, his vision prescription was drastically different. He needed glasses by age 1. Around age  2, he was found to have lens dislocation in his eyes. He then  underwent an echocardiogram, which found an aortic aneurysm. It was recommended that he undergo genetic testing, which quickly found Marfan syndrome. When Allison got the diagnosis, she went through a year-long grief process, where she had difficulty coping. She still functioned, but emotionally, she was having difficulty. To cope now, she engages in a lot of self-care. She exercises, meditates, eats healthfully, and makes sure to stay in the  present. She also moved closer to Buddhism, found a community, found her higher purpose,and  strengthened her relationships. She has found that being in the moment has made her a better person and parent. She discusses her fears and concerns for her son and discusses her son's understanding of the condition. She discusses the lack of advancement of treatment for the condition. His condition is relatively stable currently. Treatments are limited for Marfan Syndrome  but James has used losartan and a beta blocker. The family is choosing to move to be closer to family in order to advocate for James and to use their social support. She found a lot of social support and relies heavily on the Marfan Foundation. Going to conferences really helped her meet people. When raising a child with special needs, consider your child's needs, get to know your child, listen to your child, and make the best decisions you can. Allison  discussed the sibling challenges of special needs.     Strengths Finder Test Marfan Foundation Children's Program     Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Episode 97: Raising a Child With Marfan Syndrome With Guest Allison Pullins Episode 29: Raising a Child With Marfan Syndrome With Guest Allison Pullins In this episode, Allison Pullins discusses her experience raising a child with Marfan Syndrome. James was diagnosed with this connective tissue disorder when he was 2 years old. He experiences an aortic aneurysm, is very nearsighted, has dislocated lenses in his eyes, and low muscle tone. The first signs of something different was asymmetry in James' eyes. Things were fine at the first eye doctor appointment, but 6 months later, his vision prescription was drastically different. He needed glasses by age 1. Around age  2, he was found to have lens dislocation in his eyes. He then  underwent an echocardiogram, which found an aortic aneurysm. It was recommended that he undergo genetic testing, which quickly found Marfan syndrome. When Allison got the diagnosis, she went through a year-long grief process, where she had difficulty coping. She still functioned, but emotionally, she was having difficulty. To cope now, she engages in a lot of self-care. She exercises, meditates, eats healthfully, and makes sure to stay in the  present. She also moved closer to Buddhism, found a community, found her higher purpose,and  strengthened her relationships. She has found that being in the moment has made her a better person and parent. She discusses her fears and concerns for her son and discusses her son's understanding of the condition. She discusses the lack of advancement of treatment for the condition. His condition is relatively stable currently. Treatments are limited for Marfan Syndrome  but James has used losartan and a beta blocker. The family is choosing to move to be closer to family in order to advocate for James and to use their social support. She found a lot of social support and relies heavily on the Marfan Foundation. Going to conferences really helped her meet people. When raising a child with special needs, consider your child's needs, get to know your child, listen to your child, and make the best decisions you can. Allison  discussed the sibling challenges of special needs.     Strengths Finder Test Marfan Foundation Children's Program     Links: Email us if you have any questions or ideas! We are now on instagram! Check out updates on our website. Follow Thriving on Twitter. Check us out on Facebook! We are also on Pinterest!     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Show Music: Intro Outro: Intro Outro 2 by Mattias Lahoud under CC-BY 3.0 License (www.freesound.org) Theme Song: 90s rock style by monkeyman535 under CC-BY 3.0 License (www.freesound.org) Self Care Song: Green and Orange No Water by Duncan Alex under CC-BY 3.0 License (www.freesound.org)   Hosted by: Jessica Temple and Lewis Temple   Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Parents of children with health issues should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

This week we delve into the world of noninvasive imaging and review a very novel approach from the team at Stanford University about tele-visits and the use of remote parentally acquired, focused echocardiograms for monitoring of Marfan's patients. Can any parent be trained to perform a focused echocardiogram in their homes? What is the cost associated with this approach? Can this technique be applied to other cardiovascular problems? We speak with Associate Professor of Pediatrics, Seda Selamet Tierney about her recent work on this interesting topic. doi: 10.1016/j.jpeds.2021.01.004

Episode 16: Let's Talk About Marfan Syndrome In this episode, we discuss all things Marfan Syndrome. Marfan Syndrome is a genetic condition that affects the connective tissues. Symptoms include long arms, legs, and fingers, tall and thin body type, curved spine, chest sticking out or in, flexible joints, flat feet, stretch marks, heart conditions, eye conditions, lung conditions, and other symptoms. It is diagnosed via blood tests, echocardiograms, EKG, eye examination, and imaging. Treatment includes medications to minimize symptoms, and occasionally, surgery.     Links: Resources Find a Doctor Support Groups Healthcare Management Tool Patient Resources Questions Medical Symposium Series Empowerment Series Connective Tissues Blog   Links: Website Facebook Instagram Email Twitter     Please subscribe to our podcast in the iTunes store, or wherever you find your podcasts, Leave us a 5-star review, to help us know what you like and what you don't like, and to make sure other like-minded people find support through this podcast. Hosted by: Jessica Temple  Music by Antarcticbreeze Music Disclaimer: Our show is not designed to provide listeners with specific or personal legal, medical, or professional services or advice. Listeners should always consult their health care provider for medical advice, medication, or treatment. Copyright 2021 Jessica Temple

Please join editorialist Padma Kaul and Associate Editor Karol Watson as they discuss the original research article "Preterm Delivery and Long-Term Risk of Stroke in Women: A National Cohort and Cosibling Study" and the editorial "Pregnancy as Oracle: What it Augurs for Women's Health." Dr. Carolyn Lam: Welcome to Circulation on the Run, your weekly podcast, summary and backstage pass to the journal and its editors. We're your co-hosts, I'm Dr. Carolyn Lam, associate editor from the National Heart Center and Duke National University of Singapore. Dr. Greg Hundley: And I'm Dr. Greg Hundley, associate editor, director of the Pauley Heart Center at VCU Health in Richmond, Virginia. Dr. Carolyn Lam: Oh Greg, today's feature paper is really important. It's about preterm delivery and the long-term risk of stroke in women. A very, very important cardiovascular risk factor that we don't talk about. This is important data from the national cohort and co-sibling study. So hang on, look out for it. But first, how would you take us through some of your spotted original papers? Dr. Greg Hundley: So Carolyn, my first paper comes to us from Dr. Guido Claessen from University Hospitals in Leuven. Exertional intolerance, Carolyn, is a limiting and often crippling symptom in patients with chronic thromboembolic pulmonary hypertension, and traditionally, the etiology has been attributed to central factors, including ventilation, perfusion mismatch, increased pulmonary vascular resistance and right heart dysfunction and uncoupling. So pulmonary endarterectomy and balloon pulmonary angioplasty provides substantial improvement of functional status and hemodynamics. However, despite normalization of these pulmonary hemodynamics, exercise capacity often does not return to age-predicted values. So by systemically evaluating the oxygen pathway, these authors aim to elucidate the causes of functional limitations of chronic thromboembolic pulmonary hypertension patients before and after these pulmonary vascular interventional procedures. Dr. Carolyn Lam: So very interesting. Tell us more, what did they find, Greg? Dr. Greg Hundley: Yeah, well Carolyn, they utilize cardiovascular magnetic resonance, as you know, one of my big interests, but guess what? They also did it with exercise and simultaneous invasive hemodynamic monitoring. The authors in doing so, sought to quantify the steps of the oxygen transport cascade from the mouth to the mitochondria in patients with this pulmonary hypertension. So they had 20 subjects with pulmonary hypertension and they compared those to 10 healthy individuals. Furthermore Carolyn, the authors evaluated the effect of pulmonary vascular intervention procedures, both endarterectomy or balloon angioplasty, on the individual components of the cascade in 10 of those 20 individuals. Dr. Greg Hundley: So what did they find? They found that in this chronic thromboembolic pulmonary hypertension condition, these patients, they have significant impairments of all steps in the oxygen utilization cascade, resulting in markedly impaired exercise capacity, the thick equation uncoupled. And pulmonary vascular interventions increased, peak VO2, by partly correcting the oxygen delivery, but having no impact on abnormalities in peripheral oxygen extraction. Dr. Greg Hundley: So Carolyn, this suggests that the current interventions only partially address patient's limitations and that additional therapies may improve functional capacity, such as improvement in skeletal muscle function and metabolism. So maybe one of your faves, cardiac rehab, perhaps could work on some of those peripheral factors in these patients. So, really interesting, very well accomplished study. Dr. Carolyn Lam: Nice, elegant and clinically impactful. Very nice. Well, the next paper is the same. We know that prenatal detection has benefits for infants with hypoplastic left heart syndrome and transposition of the great arteries. Well, this next paper describes the largest multicenter study to evaluate whether social economic quartile, public insurance, race or ethnicity, rural residence and distance from the residence are associated with the prenatal detection of critical congenital heart diseases in North America. This study is from Dr. Krishnan from Children's National Medical Center in Washington, DC and colleagues. Basically, what they found was that lower socioeconomic position, Hispanic ethnicity, and rural residence were all associated with decrease prenatal detection rates of hypoplastic left heart syndrome and transposition of the great arteries. Dr. Greg Hundley: Wow Carolyn, so social determinants of health, interesting. So how do we, as clinicians, apply these results? Dr. Carolyn Lam: Well, clinicians can use the findings of the study to focus efforts on improving overall prenatal detection rates for congenital heart disease. They can specifically improve health equity in prenatal detection and timing of prenatal detection by improving linkages between tertiary care centers and these populations and regions that were identified in this study. Dr. Greg Hundley: Very nice Carolyn. Well, I'm going to turn to the world of aortic aneurysms and this next paper comes to us from Dr. Maria Mittelbrun from Centro de Biología Molecular Severo Ochoa. Carolyn, it involves Marfan syndrome, which you know, is an autosomal dominant disorder of the connective tissue caused by mutations in the FBN1 gene, encoding a large glycoprotein in the extracellular called fibrillin one. The major complication, again as you know, of this connective disorder is the risk to develop thoracic aortic aneurysms. To date, no effective pharmacological therapies have been identified for the management of thoracic aortic disease and the only options capable of preventing aneurysm rupture are surgery. So here, the authors studied the role of mitochondrial dysfunction in the progression of thoracic aortic aneurysm dilation, and mitochondrial boosting strategies as a potential treatment to manage these aneurysms. Dr. Carolyn Lam: Wow, that's really fascinating. So what did they find? Dr. Greg Hundley: So Carolyn, just like in circulation, these wonderful translational basic science studies, the research here by these authors was performed in both mice and in patient samples from Marfans patients. So mitochondrial function of vascular smooth muscle cells was found to be controlled by the extracellular matrix and drive the development of aortic aneurysm in the Marfan syndrome. Interestingly, restoring mitochondrial metabolism with the NAD precursors nicotinamide riboside rapidly reversed aortic aneurysm in the fibrillin positive mice. Thus Carolyn, the clinical implications are that by potentially targeting vascular metabolism, a new available therapeutic strategy for managing aortic aneurysms associated with these genetic disorders, such as Marfan syndrome, may become available. Really interesting new development in the world of managing aortic aneurysm dilation in patients with Marfan syndrome. Dr. Carolyn Lam: Oh my goodness, that would be paradigm shifting. Wow, hope that's going to be pursued further. Well, this next one is from the preclinical world and this study really uncovered a metabolic transcriptional axis that explains how dividing cells coordinate metabolism with gene regulation in pulmonary arterial hypertension. So this is from Dr. Rabinovitch and colleagues from Stanford University School of Medicine who applied RNA sequencing to pulmonary artery smooth muscle cells from patients with pulmonary arterial hypertension with and without a BMPR2 mutation compared to control pulmonary artery smooth muscle cells, basically to uncover genes required for their heightened proliferation and glycolytic metabolism. The assessment of differentially expressed genes establish metabolism as a major pathway. The most highly up-regulated metabolic gene was aldehyde dehydrogenase family 1 member 3, an enzyme previously linked to glycolysis and proliferation in cancer cells and systemic vascular smooth muscle cells, but now demonstrated in pulmonary arterial hypertension. Isn't that cool? Dr. Carolyn Lam: The findings were basically like this, an increase in this particular aldehyde dehydrogenase family 1 member 3, underlined the heightened proliferation and glycolysis of pulmonary artery smooth muscle cells in patients with both idiopathic and hereditary pulmonary artery hypertension, while promoting survival of their endothelial cells under stress. The authors further uncovered the way this molecule interacted with genetic factors in doing so and then finally demonstrated that transgenic mice with the deletion in smooth muscle cells did not develop chronic hypoxia-induced pulmonary hypertension. Dr. Greg Hundley: Wow Carolyn, really new, inventive material from the world of basic science. So what's the take-home message? Dr. Carolyn Lam: So these findings really suggest that selectively disrupting the pivotal role of aldehyde dehydrogenase family 1 member 3 in pulmonary artery hypertension smooth muscle cells, note that was smooth muscle cells, not the endothelial cells, may be a important therapeutic consideration in patients. Dr. Greg Hundley: Very nice. Dr. Carolyn Lam: So Greg, let me tell you about some other articles in today's issue. There's an exchange of letters between Drs. Pengo and Kario 00:10:36 regarding the article Nighttime Blood Pressure Phenotype And Cardiovascular Prognosis, A Practitioner-based Nationwide JAMP Study. Dr. Greg Hundley: Great Carolyn, well also in the mail bag, we have a perspective piece from Professor Chang entitled Trial By Wildfire, The Need To Expand The Framework Of Environmental Determinants Of Cardiovascular Health From Climate Change To Planetary Health. Also, there's a primer from Professor Miano entitled The Fate And State Of Smooth Muscle Cells And Atherosclerosis. Then lastly, we have another article from the world of basic science, a research letter from Dr. Ieda entitled Overexpression Of GATA4, MEF2C and TBX5 Generates Induced Cardiomyocytes Via Direct Reprogramming And Rare Fusion In The Heart. Well, Carolyn, how about we get to the world of preterm delivery and onto that feature article? Dr. Carolyn Lam: I'm there already, let's go. Dr. Greg Hundley: Well, listeners. Now we are turning to our feature discussion and we're so excited today to have with us our editorialist for this article, Dr. Padma Kaul and our own associate editor, Dr. Karol Watson and we'll be discussing today, a paper related to preterm delivery and long-term risk of stroke in women. Padma, I'd like to start with you. Describe for us a little bit, the context for this study, and then what were the authors' study population and study design? Dr. Padma Kaul: So Greg, this is a study, which is a retrospective cohort study from Sweden and they looked at women who had given birth over a pretty long period of time, from 1973 to 2015. In over two million women, they looked at the association between preterm birth and the long-term development of stroke in the mothers. It's a really interesting study. What they did find is that preterm birth was associated with a higher hazard ratio for stroke, over 48 million person years of follow-up. The authors also did an interesting co-sibling analysis to supplement what the overall primary analysis. This was by looking at a subset of women who had at least one sibling in the cohort. The point of that was to assure that the association between preterm birth and stroke risk remained, even after you account for familial or genetic environmental factors. They do find that it was demonstrated even in the subset. Dr. Greg Hundley: Very nice, just a couple quick clarifying points. Were these ischemic strokes, were they hemorrhagic strokes? And then give me a little bit of definition. How did they define preterm? Dr. Padma Kaul: So preterm was in less than 37 weeks of gestation, and they looked at both hemorrhagic as well as ischemic strokes in the women. So they did an overall stroke endpoint as well as looked at whether these two types of strokes, whether the relationship stayed. Dr. Greg Hundley: And was there any particular age at which these strokes occurred? Dr. Padma Kaul: That's an excellent point. As I told you, that the time period of the study is pretty long. So they did stratify the follow-up period into 10 year segments, and they found that higher risk in the early part of the 10 and the 10 to 20 time periods. It stayed in the latter periods as well, but it was more so associated with a higher hazard in the early time periods, the 10 and the 20. Dr. Greg Hundley: Thank you so much, Padma. Well now listeners, we're going to turn to our associate editor, Dr. Karol Watson from UCLA. Karol, I know working on the editorial board at Circulation, you see many papers come across your desk. What attracted you to this particular manuscript? And how would you put the results from this study in the context of other studies that have really evaluated women's health in this situation? Dr. Karol Watson: That's a fabulous question. I think really so many great manuscripts come in and there are important features of many of them, but this one caught my eye for a couple of reasons. It was so incredibly well done. This is a huge, huge cohort of over two million women and it's from Sweden, where they keep really exquisite records, so we had so much data on this population. So we really got to know all about these soliton deliveries in Sweden, over a 40 year period. So the great cohort that was really well characterized, the really long follow-up. I love the co-sibling analysis that they talked about, they really did control for so many things, shared familial factors, shared genetic factors, covariates. So they just did a fabulous study. Dr. Karol Watson: So, in the whole realm of women's health, we are understanding that pregnancy is a great window into a woman's vascular future. So we now know so many things, we know that preterm delivery is amongst those pregnancy outcomes that we have to look for. So we have to look for pregnancy-induced hypertension, gestational diabetes, but also preterm delivery and pregnancy loss. So all of these things are telling us that a woman's vascular system is under stress and we have to do things to make sure they have good outcomes, because we know they're at greater risk. Dr. Greg Hundley: Very nice. So as leading experts in the era, Padma first to you, and then I'll come back to Karol. Padma, tell us, what do you think is the next area of research that needs to be explored in this topic area? Dr. Padma Kaul: I think that this is an observational study. So one of the things we have to recognize is how do we add to the evidence that this study has provided us? That I think, is to see if in other cohorts, similar pregnancy birth cohorts with longitudinal data, whether we observe the same patterns that we ever observed in Sweden. Sweden is actually quite unique in terms of the makeup of the population and these are historical trends. We do know that the characteristics of the mothers who are giving birth are changing over time. Women are delaying childbirth, they are getting heavier, they may have preexisting conditions. So I think to keep monitoring the health of the mothers and pregnancy factors is what is needed to move the field forward. Dr. Greg Hundley: Very nice, and Karol? Karol, would you like to add anything? Dr. Karol Watson: Yeah, I agree completely with what Padma says. The beauty of the Swedish cohort is how well characterized it is, but one of the limitations is it's a fairly homogenous cohort. So I would love to see similar data in other racial or ethnic groups. We'd also like to see, again, as Padma said, this is observational cohort study, so we don't know truly the causal validy here, although this is a really good study to identify this trend. I would love to think of ways why this might be, we really don't have a good handle on the pathobiology. We can surmise some things endothelial dysfunction, et cetera, but we just don't know for sure. The other thing I'd like to think of is ways we might address mitigating risk. If this truly is a risk factor, how are we going to help these women have better vascular outcomes. But again, a great study to start all these questions. Dr. Greg Hundley: Well, thank you Karol and Padma and listeners. We certainly want to thank both Drs. Kaul and Watson for their time today and also the author group under the direction of Dr. Casey Crump for submitting this article to us at Circulation reporting on this large cohort of women from Sweden, identifying a preterm delivery and long-term risk of both ischemic and hemorrhagic stroke. Dr. Greg Hundley: Well, on behalf of Carolyn and myself, we want to wish you a great week and we will catch you next week on the run. This program is copyright of the American Heart Association, 2021. The opinions expressed by speakers in this podcast are their own and not necessarily those of the editors or of the American Heart Association. For more, visit ahajournals.org.  

Dissections occur when the tunica intima and tunica media layers of the aorta weaken and tear causing blood to create a false lumen. Different classifications determine severity and treatments. ——Standford Classification—— Type A- Ascending aorta and can continue to the arch and/or the descending aorta. Type B- Involves the descending aorta distal of the left subclavian artery. ——Risk factors/Presentation—— HTN, tissue disorders, Marfans syndrome, age, and male gender. These patients will present with classic ripping/tearing chest pain that radiates to back, sometimes to abdomen depending on location of dissection. Focal neuro defects, BP/pulse deficits, N/V, SHOB, diaphoreses etc. ——Diagnosis—— Initial diagnosis starts with a good history of the patient to see if the qualify with high risk factors, next is imaging. CXR does not rule out a dissection but clue you in with a widened mediastinum. Next is the gold standard which is CT, some complications may arise with decreased renal function and contrast. If patient is stable enough MRI is possible. Other options are TEE (requires ETI), or TTE. These both have restrictions in imaging the full aorta for diagnosis. ——Treatments—— Treatments depends on type of dissection. ——Type A—— Require immediate emergent cardiac surgery. Due to the nature and location of the dissection patient is at risk for hemorrhage, hypo perfusion to vitals organs. Usually repaired with aortic graft/replacement. ——Type B—— Unless complicated with hypo perfusion which would require surgical consult (TEVAR) with stent placement, type B is management with medication. Anti-impulse therapy is initiated long term with medications to control HR and BP.         SUBSCRIBE AND LEAVE A RATING ON ITUNES!!!   If you have any questions please feel free to contact me at pushdosemedic@gmail.com The Push Dose Medic website is live!!!  www.pushdosemedic.com

This week, naturopathic doctor AmandaLynn Hoffman shares her path to becoming a physician from her start being one of five siblings who all have the genetic syndrome Marfans, shaped by a life of flexibility, open-mindedness, and literally being big-hearted, Amanda shows us to be bold, audacious, and live out loud no matter our circumstances. For more, including a full transcript, visit SarahMarshallND.com/podcast.

Vi analyserar argentinske Demián Rugnas skräckfilmsdebut Aterrados (2017) - under återproduktion som Terrified - utifrån dess beståndsdelar. Tomas försöker berätta spökhistorien Flickan med hunden utan att plantera att hunden brukar slicka flickans hand när hon är rädd, och Lars fantiserar om ett alldeles eget argentinskt kök i brungrönt med främmande materialval och dåliga rör. Vi pratar också om: Drag me to Hell, Sam Raimi, The Conjuring, Exorcisten, Orvar Säfström, Daniel Ekeroth, The Shining, Gert Fylking, Det, The Descent, Björnes magasin, Lights Out, David F. Sandberg, Javier Botet, Marfans syndrom, Slenderman, Rec, Jurtjyrkogården 2, John Ajvide Lindqvist, Motorsågsmassakern, The Entity, Eerie, skräckbloggen The Horrors by Veronica, Stephen King, Dödsbädden, James Wan, The Ketchup Song, Grannfejden, A Nightmare on Elm Street, Benicio Del Toro, Heriditary, Gothika, Anders Fager, Jag såg henne idag i receptionen, William Faulkner, Ju-On: The Grudge, David Lynch, Insidious, Titta Dom Snackar, Emil Ryderup, Terminator 2, City of the Living Dead och Lucio Fulci. Det blir: nostalgi, tyckande och analys

We discuss aortopathies and arteriopathies with Dr. Anna Ohlsson and Dr. Sherene Shalhub from the University of Washington. Review Script by Anna Ohlsson, MD

Still podcasting from home due to Covid-19. We called our friend Flaco Martinez to see how he's doing. Still working out the kinks in my sound and connection but I think we figured it out for next week. Hopefully. Bear with us. LINKSIsaac "Flaco" Martinez:INSTAGRAM: @isaacflacomartinez Felipe Esparza:TWITTER: @FunnyFelipeINSTAGRAM: @FelipeEsparzaComedianRodrigo Torres:TWITTER: @RodrigoTorresJrINSTAGRAM: @RodrigoTorresJrMartin Rizo:INSTAGRAM: @ComicMartinRizo

To mødre forteller om hvordan de opplever det å ha barn med Marfans syndrom. Les mer om Marfans syndrom og TRS på www.sunnaas.no/trs.

This week, Court-side Moms hosts Lisa Green, mother of Isaiah Austin, an NBA first round prospect who days before the 2014 draft was diagnosed with Marfan Syndrome, a rare disorder affecting his heart and instantly ending his NBA dream. In this very moving and inspiring episode we hear about this remarkable 7’1” AAU star and how he has coped with adversity in his young life. “You can make this your excuse or you can make it your story”. Join us as Lisa shares how these words from mother to son helped inspire Isaiah to make this his story, to pick himself back up, get through his darkest days and come out stronger and more determined than ever to be a success and continue to play the game he loves and be a force on the court. We hope you find this very special episode as powerful as we did – a story of perseverance, determination and a mother’s strength and unwavering love.

At thirty years of age, Kristi Boles had the world at her feet. She was married with children and was running nine successful podiatry practices in Victoria, Australia; however, her health took a sudden downward turn resulting in heart surgery and a very long lay off from running her businesses. She was also diagnosed with Marfan's Syndrome.  On this podcast episode, Kristi openly talks about her sudden, unexpected health issues and also how she has transformed her own life, and that of her patients by being more aware of the fundamentals of healing and good health.  Taking Wednesday's Off Kristi takes off every Wednesday to rejuvenate, work on her business, with her team member and focus on business mentoring. She gets excited on Tuesday afternoons knowing she has the next day off.  Episode 003 - Peter Wishnie calls this his Rainmaker Day.  Marfans Syndrome & Dissected Aorta She was running nine podiatry businesses and working full time herself, which lead to burnout and aorta dissected. This health scare began her journey about better health and bringing this knowledge into practice. When you have a health scare, you get a whole new perspective about being a mother, a wife and a business owner. It doesn't take long to work out your priorities.  This was when Kristi decided to consolidate her businesses and integrate nutrition into her life and businesses systems.   It's All About Good Communication After her doctors gave her the all clear to go back to work Kristi realised they never listened to how she was feeling. Yes her heart was fine, but no one asked about her diet and overall health and wellbeing. She was not drinking enough water, had high stress, and even though she was eating well, she was missing the fundamentals of good health.  She had migraines, fatigued, no energy to last the full day and needed an afternoon sleep.  With good communication, you can set better treatment plans, and after listening to your patients, you will also know if they are capable of doing it. Journey of Self-Education So many people with chronic problems: Don’t have resources Do not understand the fundamentals of healing Need assistance in making better decisions themselves This is why Kristi started Allied Wellness - Fundamentals of Healing. It is a tool for practitioners to use with their patients and it's an evidence-based program, and it stays within the scope of practice. It's used as: A screening tool Patient education booklet Patient diary Patient referral tool Resource library If you're interested in using the program use Promo code PODLEGENDS discount As health practitioners, we’re all singing the same tune, which is why we all need to be working together for the patients' benefit. It shows we care.  Keeping Patients Accountable When you check in with your patients about their hydration and diet, it will make them more conscious, and they will make an effort to do the right thing and improve. It's about empowered patients. Patients will start making the decisions themselves and success leads to more success. It also has a mirroring effect; we become that role model as well.  Number One tip Truly listening to your patients is where it all starts. They know their body better than you, but it begins by asking the right questions.  If you have any questions about this episode, podiatry marketing or one-on-one business mentoring, please email me at tf@tysonfranklin.com  You can also contact Kristi Boles at Allied Wellness and don't forget the PROMO CODE - PODLEGENDS.     If you enjoyed this episode you might also enjoy:   Ep 128: Turning Your Passion Into A Business with Lonnie Beck

No matter where you live in the world, there are a number of “Ghost Lights”, Spook Lights”, and “Mystery Lights” that occur. North Carolina has the famous Brown Mountain Lights, Missouri has the Hornet Spook Lights, and let’s not forget the famous ghost light of Bragg Road, right here in Texas. Today, my Strange neighbors, we’ll be discussing the well-documented Marfa Lights. So sit on the edge of your seat, keep your eyes on the sky, and beware the shadows… our exploration into The Strange is about to begin.WebsiteSubmit your paranormal stories to: Homeonthestrangepod@gmail.comPatreonSupport the show (https://www.patreon.com/homeonthestrangepod)

This week we delve into the world of Marfan Syndrome and review a recent report from the Pediatric Heart Network with the first author of this work, Dr. Seda Selamet Tierney - Associate Professor of Pediatrics, Stanford University. Why does stiffness of the aortic wall predict dilation and need for surgery? Does the use of atenolol or losartan affect aortic growth or dilation? Which agent is preferable? Dr. Selamet Tierney shares her insights this week on the podcast. DOI: 10.1016/j.amjcard.2018.01.016

This week we delve into the world of Marfan Syndrome and review a recent report from the Pediatric Heart Network with the first author of this work, Dr. Seda Selamet Tierney - Associate Professor of Pediatrics, Stanford University. Why does stiffness of the aortic wall predict dilation and need for surgery? Does the use of atenolol or losartan affect aortic growth or dilation? Which agent is preferable? Dr. Selamet Tierney shares her insights this week on the podcast. DOI: 10.1016/j.amjcard.2018.01.016

In the finale to our third season, Dr's J and Santhosh discuss Disney Medicine. Along the way, they cover wishing upon a star, Cinderella Dermatosis, how not to clean a fireplace, color coordinating fairy spells with pumpkins, poison apples, the first cartoon anesthesiologist, the medical degree of Doc, Japanese pufferfish tetrodotoxin, Sleeping Beauty Syndrome, Dwarfism, Medical Etymology, Skeletal Dysplasias, discarded dwarf names, Angleman Happy Puppet Syndrome, The little mermaid and vocal cord dysfunction, Pocahontas and synesthesia, Jafar and Marfans, the dubious politics of Agrabah, REM Behavior disorders, and why you shouldnt kiss frogs to find your prince. So Sit back, wish upon a star, and prepare to learn the hidden medicine of Disney characters! We'll See you in the fall! Contact Us! Twitter: @doctorjcomedy @toshyfro Facebook: https://www.facebook.com/travelmedicinepodcast Squarespace: https://www.travelmedicinepodcast.squarespace.com Patreon: https://www.patreon.com/travelmedicinepodcast Google Voice: (872) 216-1586 Find and Review Us! itunes: https://itunes.apple.com/us/podcast/episodes-travel-medicine-podcast/id914407095 stitcher: http://www.stitcher.com/podcast/travel-medicine-podcast?refid=stpr Google Play: https://play.google.com/music/listen#/ps/Iebqxcseb4s6pu5sjyljwgqsbuy YouTube: https://www.youtube.com/playlist?list=PLr4fcpX27x2vcJT_zJq6qiBy0pK8WiEXe

Scout, Simon, Rhyder (and Dylan) discuss the genetic condition of Marfan's Syndrome in this science video podcast which simulates a genetic counselling session.