Podcasts about marfan

In this episode, Dr. Valentin Fuster discusses a landmark study from the Montalcino Aortic Consortium revealing how genetic differences in Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome distinctly influence the risk and location of arterial events. The findings highlight gene-specific patterns—thoracic aortic complications in Marfan and Loeys-Dietz, and peripheral arterial issues in Loeys-Dietz and Ehlers-Danlos—paving the way for personalized surveillance and management strategies.

In this JACC podcast, Dr. Valentin Fuster presents five key studies, including new insights into arterial aneurysms in genetic aortopathies like Loeys-Dietz, Ehlers-Danlos, and Marfan syndromes, the implications of post-exercise troponin elevations in athletes, and 35-year outcomes of staged surgery for hypoplastic left heart syndrome. The episode also features a state-of-the-art review on heart failure with improved ejection fraction, highlighting emerging challenges and clinical strategies in this evolving phenotype.

Get my Gratitude Journal on Amazon! Elevate your morning/evening routine, and elevate your life using my Gratitude Journal! Get yours here: https://www.amazon.com/Gratitude-Journal-Rashi-Stephens-Charlton/dp/B0CWYHDTGPTry Mary Ruth Organics Supplements! Get 15% off your order with my code: MRORASHI at checkout on www.maryruthorganics.com.Welcome back to Catwalk Through Life!Today's episode focuses on Marfan Syndrome. Marfan Syndrome is a genetic disorder that affects connective tissue, the strong fibers that support organs and structures in the body. Since this disorder is not vastly known or talked about I wanted to bring more awareness to it. In this episode, I'm joined by Cassie Bartolomey - a hardworking mother of 3, a go-getter, wife, boss lady, and a friend who has lived life with Marfan Syndrome. Today's episode includes talking points like having gratitude even when times get hard, having confidence in who you are no matter what labels are put on you, and what mindset shifts you can adopt to elevate your life. Resources: https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782 "What is Marfan Syndrome: Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta."Other links we discussed: Enneagram Personality Test: https://www.truity.com/test/enneagram-personality-test?ppcga=fixed&gad_source=1&gad_campaignid=15425445081&gbraid=0AAAAADvsRqlnKUq9opNwSjTONBz-kjrKg&gclid=CjwKCAjwruXBBhArEiwACBRtHS1NFCFfQd147q0kQBHEBqXsyfZ2oHA34gzHpYLNpe4oPgMhu-YA3hoCo7MQAvD_BwEColor Personality Test: https://my-personality-test.com/true-colours***Let me help you conquer your mornings! Download my FREE Morning Routine Checklist! >> ⁠⁠https://catwalkthroughlife.com/2023/06/20/free-30-min-morning-routine-checklist⁠⁠Thank you all for listening to Catwalk Through Life! I hope you enjoy this episode!*****Helpful Links:Cassie Bartolomey Instagram Page: https://www.instagram.com/cassie.marie.b/?hl=enCatwalk Through Life Instagram Page: https://www.instagram.com/catwalkthroughlife Rashi Stephens-Charlton Instagram Page: https://www.instagram.com/rashistephens Gratitude Journal on Amazon: https://www.amazon.com/Gratitude-Journal-Rashi-Stephens-Charlton/dp/B0CWYHDTGPCatwalk Through Life Facebook Group: https://www.facebook.com/groups/726602181696067Catwalk Through Life Blog: https://www.catwalkthroughlife.com *****Disclaimer: Please know that any advice given is just a suggestion and what my guest has experienced in her own life. This is not medical advice for anyone in particular. We are not medical professionals. Please consult your doctor for medical questions and use your best judgement on what's best for you. The intent behind this episode is to merely share information and try to help anyone we can! :)

In this episode of Tiny Show and Tell Us, we hear from a listener who has Marfan syndrome and dive into the complexities of the disease. Then we talk about pathogens that eat — or infiltrate! — plant DNA.We need your stories — they're what make these bonus episodes possible! Write in to tinymatters@acs.org *or fill out this form* with your favorite science fact or science news story for a chance to be featured.A transcript and references for this episode can be found at acs.org/tinymatters.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Heritability has long been known to play a role in aortic aneurysm and dissection for individuals with the Marfan and Loeys-Dietz syndromes. Recent research at Penn Medicine and elsewhere has revealed the presence of genetic variants linked to these syndromes in non-syndromic disease. In this podcast, clinical genetics specialist Staci Kallish, DO, discusses this phenomenon, reviews ongoing studies to determine the risk for aortic aneurysm and dissection in the general population, and the protocols for candidates for genetic evaluation and testing in at- risk populations.

Jake Tapper is the lead Washington anchor for CNN, writer, and host of the United States of Scandal show. We chat about a Marfan detour, the politicization of Morgan Wallen exiting the SNL stage, how Trump's tarriffs will affect designer dog sales, the DC dining scene,   his love of convertible SUVs, our White Lotus finale predictions, his unusual collectables, borscht just tastes better in Ukraine, podcast's effects on television, his son likes police, Mike White's first show from 2001, interviewing Anna Delvey, how he takes his martini, and we try to squeeze out some Biden tea but he's a pro. twitter.com/jaketapper twitter.com/donetodeath twitter.com/themjeans howlonggone.com Learn more about your ad choices. Visit megaphone.fm/adchoices

⚠️ Trigger warning: This episode discusses terminal illness and end-of-life choices. If you're not in the right headspace, please take care before listening.In this deeply personal and thought-provoking episode, I sit down with Necole, the niece of Kay Henderson, whose story has captured national attention. Kay recently made the decision to end her life through Voluntary Assisted Dying (VAD), a choice that became legal in New South Wales in 2023.Necole shares Kay's journey—her lifelong battle with Marfan syndrome, the immense pain she endured, and the thoughtful, love-filled way she chose to say goodbye. We discuss the process of VAD, the misconceptions surrounding it, and the overwhelming public response to Kay's decision, including her viral TikTok videos documenting her final days.This episode is about choice, dignity, and love. No matter where you stand on this topic, I encourage you to listen with an open heart. And if you'd like to honour Kay, wear something purple on March 3rd—her birthday—and maybe enjoy a cheesy garlic bread in her memory.

In this episode, we talk to Marisa Hart, who was diagnosed with Marfan syndrome as a child. Marisa has an extensive family history and shares how Marfan has impacted her life, from sports, to seeing family members deal with Marfan, and her daily life and own surgery for pectus excavatum.  Content warning: Brief discussion of … Read More Read More

A client with Marfan's syndrome, a connective tissue disorder with dysfunctional collagen, has had multiple surgeries for a traumatic accident, and their scar tissue is restricting their ease of movement. Their massage therapist is concerned about how best to help them regain function. When I have questions about scar tissue, I go to the Scar Tissue Diva, Cathy Ryan. In this episode we discuss the difference between “challenging tissue” and working with the fluid environment to improve function.   Host Bio:                    Ruth Werner is a former massage therapist, a writer, and an NCBTMB-approved continuing education provider. She wrote A Massage Therapist's Guide to Pathology, now in its seventh edition, which is used in massage schools worldwide. Werner is also a long-time Massage & Bodywork columnist, most notably of the Pathology Perspectives column. Werner is also ABMP's partner on Pocket Pathology, a web-based app and quick reference program that puts key information for nearly 200 common pathologies at your fingertips. Werner's books are available at www.booksofdiscovery.com. And more information about her is available at www.ruthwerner.com.            Resources:    Pocket Pathology: https://www.abmp.com/abmp-pocket-pathology-app Cathy Ryan, Registered Massage Therapist, at cryanrmt@gmail.com Live and online scar tissue classes through Healwell: https://online.healwell.org/pages/scars-fascia-lymph-landing ABMP CE Library: Scar Tissue Management, with Cathy Ryan and Nancy Keeney Smith: https://www.abmp.com/learn/course/scar-tissue-management-part-1-introduction A short list of Stecco fascial research papers: Adstrum, S. et al. (2017) ‘Defining the fascial system', Journal of Bodywork and Movement Therapies, 21(1), pp. 173–177. Available at: https://doi.org/10.1016/j.jbmt.2016.11.003. Stecco, A. et al. (2023) ‘From Muscle to the Myofascial Unit: Current Evidence and Future Perspectives', International Journal of Molecular Sciences, 24(5), p. 4527. Available at: https://doi.org/10.3390/ijms24054527. Stecco, C. and Schleip, R. (2016) ‘A fascia and the fascial system', Journal of Bodywork and Movement Therapies, 20(1), pp. 139–140. Available at: https://doi.org/10.1016/j.jbmt.2015.11.012. Suarez-Rodriguez, V. et al. (2022) ‘Fascial Innervation: A Systematic Review of the Literature', International Journal of Molecular Sciences, 23(10), p. 5674. Available at: https://doi.org/10.3390/ijms23105674.   About our Sponsors:   Anatomy Trains: www.anatomytrains.com   MassageBook: www.massagebook.com   Anatomy Trains is a global leader in online anatomy education and also provides in-classroom certification programs for structural integration in the US, Canada, Australia, Europe, Japan, and China, as well as fresh-tissue cadaver dissection labs and weekend courses. The work of Anatomy Trains originated with founder Tom Myers, who mapped the human body into 13 myofascial meridians in his original book, currently in its fourth edition and translated into 12 languages. The principles of Anatomy Trains are used by osteopaths, physical therapists, bodyworkers, massage therapists, personal trainers, yoga, Pilates, Gyrotonics, and other body-minded manual therapists and movement professionals. Anatomy Trains inspires these practitioners to work with holistic anatomy in treating system-wide patterns to provide improved client outcomes in terms of structure and function.                      Website: anatomytrains.com                        Email: info@anatomytrains.com             Facebook: facebook.com/AnatomyTrains                       Instagram: www.instagram.com/anatomytrainsofficial   YouTube: https://www.youtube.com/channel/UC2g6TOEFrX4b-CigknssKHA     Save time and reduce stress with MassageBook. It's not just software—it's a comprehensive solution that handles online scheduling, payment processing, and marketing campaigns, making it easier for you to provide your clients with top-notch care. Enjoy free, unlimited access for 30 days and save on your monthly subscription with your exclusive ABMP member discount.   Special Offer: Right now, MassageBook is offering listeners $50 off when they sign up with coupon code ABMP50. Start your free 30-day trial today and transform your practice with tools designed to increase bookings and streamline client management.   Connect with MassageBook: Visit their website: MassageBook Follow MassageBook on Facebook, Instagram, LinkedIn  

Marfan syndrome is a genetic disorder that makes renders the body's connective tissues incredibly fragile; this can weaken the heart, leading to potentially fatal aneurysms. What's more, anyone with the condition has a 50/50 chance of passing it on to their children.Dr Anne Child is a clinical geneticist who's dedicated her professional life to finding answers and solutions for people affected by Marfan's.Born in Canada, she met her British future-husband while working in Montreal in a case she describes as "love at first sight" - and in the 1970s she relocated her life to the UK.There, an encounter with a Marfan patient she was unable to help set Anne on a career path for life. She subsequently established the team that discovered the gene responsible for Marfan's, and founded the Marfan Trust to drive further research. Since then, life expectancy for those with the condition has jumped from 32 years old, to over 70.Speaking to Professor Jim Al-Khalili, Anne shares how she and her team achieved this remarkable turnaround.

This week on The Beat, CTSNet Editor-in-Chief Joel Dunning explores the value of working together. He discusses the importance of working not only with others in your own specialty but with teams outside your comfort zone. He also shares examples of these situations and explains how you can learn from them.   Joel also reviews recent JANS articles on the impact of incomplete revascularization on long-term survival based on revascularization strategy, impact of residual entry tears in the descending aorta after type A dissection, aortic valve replacement versus conservative treatment in asymptomatic severe aortic stenosis, and potassium supplementation and prevention of atrial fibrillation after cardiac surgery.   In addition, Joel explores aortic valve reimplantation in a Marfan syndrome patient, aortic root replacement with a Bio-Bentall, and Cox maze III procedure and complex mitral valve repair of a calcified annulus. Before closing, he shares upcoming events in CT surgery.  JANS Items Mentioned  1.) Impact of Incomplete Revascularization on Long-Term Survival Based on Revascularization Strategy  2.) Impact of Residual Entry Tears in the Descending Aorta After Type A Dissection  3.) Aortic Valve Replacement vs Conservative Treatment in Asymptomatic Severe Aortic Stenosis: Long-Term Follow-Up of the AVATAR  4.) Potassium Supplementation and Prevention of Atrial Fibrillation After Cardiac Surgery—The TIGHT K Randomized Clinical Trial  CTSNET Content Mentioned  1.) Aortic Valve Reimplantation in a Marfan Syndrome Patient  2.) Aortic Root Replacement With a Bio-Bentall   3.) Cox Maze III Procedure and Complex Mitral Valve Repair of a Calcified Annulus   Other Items Mentioned  CTSNet Events Calendar  Disclaimer The information and views presented on CTSNet.org represent the views of the authors and contributors of the material and not of CTSNet. Please review our full disclaimer page here.

In this episode of The Mutation Station, we explore the fascinating world of hypermobility and Marfan syndrome. Hypermobility, commonly known as being double-jointed, allows individuals to extend their joints beyond the typical range of motion, while Marfan syndrome is a genetic disorder affecting connective tissue. We dive into the medical characteristics of Marfan syndrome, including cardiovascular complications, joint flexibility, and the tall, slender build typical of those with the condition. The episode also examines historical figures, such as Abraham Lincoln, who may have had Marfan syndrome, and the portrayal of this disorder in art, including El Greco's elongated figures. We also explore cultural perceptions, myths, and legends that may have been inspired by traits of hypermobility. With references to literature, art, and famous individuals, this episode highlights the impact of genetic mutations on society and history. Tune in to discover the hidden connections between genetics, culture, and creativity.

Today we’re going to hear from Melanie Case, who was diagnosed with Marfan syndrome in 2002, a couple years after she had a thoracic aortic dissection following the delivery of her second child. This aortic dissection went undiagnosed for about two years, and after it was discovered, it led to her diagnosis with Marfan syndrome. 

En los Juegos Paralímpicos de Tokio 2020, los atletas latinoamericanos sumaron 153 medallas en total: 44 de oro, 41 de plata y 68 de bronce. En París 2024 se buscará mejorar la performance y volver a dejar al deporte paralímpico del continente en lo más alto posible. Así lo aseguraron al micrófono de RFI algunos jefes de Comités Paralímpicos latinos, varios de ellos también con discapacidad, física, intelectual o visual. “Yo empecé como atleta, practicando ciclismo tándem. El deporte con la bicicleta larga; el guía va adelante y él es el que ve”, cuenta a RFI Julio César Ávila, presidente del Comité Paralímpico de las Américas y el Comité de Colombia, un país que llega a París con un impresionante medallero – 24 podios en Tokio – y delegación paralímpica más grande de su historia, con 78 deportistas.“Yo nací con yo nací con una enfermedad que se llama síndrome de Marfan. A los 11 años me sacaron los cristalinos, pero yo tenía que llevar una vida muy sedentaria. No la llevé y quedé invidente”, relata Ávila. “Después de que uno acepta que tiene una discapacidad la vida se vuelve mucho más fácil, más tranquila”.Su homólogo venezolano Johan Marín también es invidente. Venezuela viene con 25 atletas para nueve deportes. “Hay un atleta que fue por primera vez triple medallista por Venezuela en los pasados Juegos Paralímpicos Tokio 2021 y otras atletas que también obtuvieron medallas en Tokio”, resalta.Germán Pérez Rodríguez, invidente, ha sido atleta y jugador de goalball, un deporte creado específicamente para personas ciegas o con baja visión. Vino a París presidiendo el Comité Paralímpico de Puerto Rico. “Nuestra delegación es pequeña, tenemos dos para deportistas que son amputadas bajo la rodilla en para atletismo de 100 metros, 200 metros y salto a lo largo. Son dos chicas muy jóvenes y es la primera vez que llegan a Paralímpicos. Llegar aquí ha sido un tramo largo, con mucha competencia y nuestras chicas se ganaron los espacios”, expresa el delegado portorriqueño."Me enamoré del movimiento paralímpico"A la cabeza del Comité Paralímpico de Panamá, Ivette Valdez explica que su país llega a París estrenando deportes. “Para ciclismo en ruta y en pista. Estamos muy contentos ya que Panamá es un país que no tiene velódromo y aun así logramos calificar a un atleta en pista y uno en ruta. Por otro lado, traemos para atletismo con una atleta en sus terceros Juegos Paralímpicos y otro en powerlifting, que son sus segundos Juegos Paralímpicos”.La discapacidad física convirtió a Ivette Valdez en atleta, tras sufrir una lesión medular, producto de un accidente de tránsito hace 15 años, a los 32 años con un hijo más pequeño de dos años. “De ahí en adelante fue una nueva vida pero una vida maravillosa porque conocí el movimiento paralímpico, me enamoré de él y realmente siento que aquí hago un trabajo todos los días maravillosos con mis para atletas”.Óscar Beltrán Fernández, secretario general del Comité Paralímpico cubano, recuerda el primer gran triunfo de Cuba en este tipo de olimpiadas. “El primer medallista que tuvo Cuba en los Juegos Olímpicos fue Ramón Fonst en esgrima. Él estudiaba aquí en Francia y desarrolló ese deporte en el país. Participó en las Olimpiadas por Cuba y obtuvo la medalla de oro en las tres armas: florete, espada y sable”.

Scoliosis is a condition affecting millions of people, particularly during their growth years. While it can be alarming, early diagnosis and treatment can greatly improve outcomes. In this episode, Dr. Tony Nalda provides comprehensive insights into how scoliosis is diagnosed and the importance of early detection. Understanding Scoliosis Scoliosis is characterized by an abnormal curvature of the spine. It affects nearly 7 million people in the U.S., with many more likely undiagnosed, especially adults who never realized they had the condition. This spinal disorder is most commonly diagnosed in school-aged children, typically during their growth spurts. There are various forms of scoliosis, but the majority (about 80%) are classified as idiopathic scoliosis, meaning the cause is unknown and likely multifactorial. Types of Scoliosis Idiopathic Scoliosis - This is diagnosed by exclusion, meaning all other potential causes are ruled out. It is the most common type, particularly in adolescents. Neuromuscular Scoliosis - Caused by conditions affecting the nervous or muscular systems, such as neurofibromatosis or Marfan syndrome. Congenital Scoliosis - Present at birth, caused by malformed vertebrae. Degenerative Scoliosis - This develops in adults due to the degeneration of spinal components, often seen in women around the age of 50. Traumatic Scoliosis - Results from a significant trauma to the spine. In children, scoliosis often goes unnoticed because it usually doesn't cause pain or visible symptoms beyond postural changes. Common early signs include: Uneven shoulders or hips Rib deformities Postural changes In adults, the primary symptom tends to be pain due to spinal compression and degeneration. How Scoliosis is Diagnosed The definitive method for diagnosing scoliosis is through imaging, typically an X-ray, which provides a clear view of the spine's alignment. The most comprehensive X-ray examines the entire spine from the skull to the pelvis. Key Diagnostic Criteria Cobb Angle - A measurement used to determine the degree of spinal curvature. A Cobb angle of 10 degrees or more, along with spinal rotation, confirms scoliosis. Rotational Component - Essential for a scoliosis diagnosis, indicating a three-dimensional spinal problem. After diagnosis, scoliosis is further classified based on factors like: Age at onset (infantile, juvenile, adolescent, adult) Location of the curve (thoracic, thoracolumbar, lumbar) Severity (mild, moderate, severe) However, even mild scoliosis can progress and cause significant problems if left untreated. Therefore, early detection and proactive treatment are crucial. Proactive Treatment The Scoliosis Reduction Center advocates for early intervention. Smaller curves are easier to treat, and addressing scoliosis early in life offers the best outcomes, potentially avoiding invasive surgeries later. Traditional approaches often suggest waiting until scoliosis becomes severe enough to require surgery, but a proactive treatment philosophy aims to prevent the progression of scoliosis through early and effective interventions. Understanding how scoliosis is diagnosed and the importance of early treatment can make a significant difference in managing this condition. If you want to know more, tune in to Dr. Tony Nalda's podcast to gain valuable information and insights into the latest scoliosis treatments and management strategies. Artlist.io 847544

In today's episode, we have the honor of hosting a truly remarkable guest, Dr. Amanda Lynn Hoffman. As the first Naturopathic physician with Marfan syndrome to specialize in this field, Dr. Amanda Lynn offers invaluable insights for both individuals living with Marfan's Syndrome and their caregivers. Her groundbreaking work in Naturopathic medicine and her personal journey with Marfan's make her an extraordinary source of wisdom and inspiration. In this episode, we dive deep into the world of Marfan's Syndrome, exploring key questions such as: 1. **The Life of a Person Living with Marfan Syndrome** - Discover what daily life looks like for those affected by this condition. 2. **Biological Drivers of Marfan's** - Understand the genetic and biological underpinnings of the syndrome. 3. **General Symptoms and Findings** - Learn about the common signs and symptoms that characterize Marfan's. 4. **Cardiovascular Sequelae of Marfan's** - Explore the cardiovascular complications associated with the disorder. 5. **Surgical Interventions** - Gain insights into how surgery is performed and its role in managing Marfan's. 6. **The Journey of a Marfan's Patient** - Follow the emotional and physical journey of patients living with Marfan's. 7. **Natural Approaches to Supporting Marfan's Patients** - Discover holistic and naturopathic methods to support those with Marfan's. 8. **Addressing TGF-Beta Dysregulation** - Examine how this critical pathway is implicated in Marfan's and ways to address it. 9. **Quality of Life Issues** - Identify the unique challenges faced by Marfan's patients and strategies for improving their quality of life. This episode holds special significance as it was recorded just before Dr. Amanda Lynn underwent her David-5 heart surgery. We discuss her thoughts and experiences leading up to this major procedure, and I'm thrilled to share that she is now on the road to recovery.. About Dr. Amanda Lynn Hoffman Licensed for 13 years as a massage therapist and herbalist Dr. Amanda Lynn has a unique view of the body. She brings in the physical, emotional with the physiological. Dr. Hoffman has expanded her studies across the United States; focusing on Clinical Sports Medicine and Master's work in Expressive Arts Therapy in Cambridge, MA., Spa treatments in Lake Tahoe, Energy-Spiritual work in Hawaii, and Herbal apprenticeships in Eugene, OR. before ever signing up for Med school. Dr. Amanda's treatments are mind, body and spiritually holistic. As a Family Medicine Physician her work has gone to a new level of finding the cause and correcting the body's blocks to allow and support the body's ability to heal itself. Special training and education has taken her interests in the endocrine system specifically, thyroid, adrenals and hormones to become one of her expertise areas. Marfan's syndrome and “loose connective tissue/joints” is her original focus being published for her Naturopathic focus on increasing the integrity of the musculoskeletal and cardiovascular/pulmonary systems. Born and raised in rural Oregon, Dr. Amanda Lynn cares about the wellness of her community and is excited to bring Naturopathic medicine to a larger stage. Dr. Amanda Lynn's thesis was on the Naturopathic treatments for connective tissue health and integrity from the musculoskeletal system to the cardiovascular system, specifically the heart. As a patient herself with a rare genetic disorder Dr. Amanda Lynn is the first Naturopath with Marfan's syndrome to focus on healing pain and strengthening the cardiovascular/muscular system. Special Links: Download "Loose Women_ is a support guide for all things “not talked” about natural therapies for Marfan Syndrome, Vascular Ehlers Danlos, Ehlers Danlos Syndrome, and Hypermobility Spectrum Disorders. Donation when we hit 300 listens in the first 30 days or [commongroundscollective.com])  Honoring the fire victims of Maui 2023. Social Links: https://www.onethingpod.com/guests/amandalynn-hoffman/ --- Support this podcast: https://podcasters.spotify.com/pod/show/onethingpod/support

Send us a Text Message.Discover the remarkable resilience of Rachael Gott, our extraordinary guest born with hypoplastic left heart syndrome (HLHS). Despite her condition remaining uncorrected, Rachel has navigated a complex medical journey, including ten cardiac ablations and two device implants, all while avoiding open-heart surgeries. Rachael also faces Marfan syndrome, which adds another layer of complexity to her life. Join us as Rachael shares her inspiring story, highlighting her ability to overcome innumerable challenges and offering hope to others with congenital heart disease (CHD).Rachael's journey is one of incredible strength and persistence. She opens up about her experiences with multiple heart rhythm issues and the difficulties posed by various medications. As she discusses her forthcoming plans for an open-heart Maze procedure and potential heart and kidney transplants at the Cleveland Clinic, Rachael provides us with a unique glimpse into the emotional and physical toll of living with severe heart conditions. Her late diagnosis in her twenties brings a poignant perspective on the emotional reactions of her parents and how they coped with the news, underscoring the importance of a robust support system.From a seemingly normal childhood filled with sports, singing, and dancing, to the shocking discovery of her condition following severe chest pain, Rachael's story is a testament to the human spirit's endurance. The medical community's awe at Rachael's case highlights the rarity and complexity of congenital heart defects like HLHS. Rachael's experience underscores the importance of community support and the strength she's found in connecting with others facing similar challenges. Tune in to hear her express gratitude for these connections and learn how her journey may soon be shared in a book about resilience.Thanks to our newest HUG Patron, Ayrton Beatty and long-standing Patrons: Laura Redfern, Pam Davis, Michael Liben, Nancy Jensen, Alicia Lynch, Deena Barber, Carlee McGuire, Carter & Faye Mayberry, and Frank Jaworski. We appreciate you!Support the Show.Anna's Buzzsprout Affiliate LinkBaby Blue Sound CollectiveSocial Media Pages:Apple PodcastsFacebookInstagramMeWeTwitterYouTubeWebsite

Marfan Surgery   Guest: Alberto Pochettino, M.D. Hosts: Paul A. Friedman, M.D.   Marfan syndrome is a genetic abnormality where the fibrillin protein is abnormal. That affects all collagen structures within a given individual. Phenotypic features involve ocular abnormalities such as lens dislocation and a higher risk of retinal detachment, as well as diffuse musculoskeletal abnormalities such as scoliosis, joints abnormalities, and the diffuse hyper extension of all joints. By far the most life-threatening feature in Marfan syndrome is aortic abnormality.   Topics Discussed: Which patients with Marfan syndrome should be evaluated for aortic disease? Do all Marfan patients develop aortic aneurysm? What other cardiovascular abnormalities are noted in Marfan syndrome? What preventive operations are available, and what are the expected outcomes from such operations? If a Marfan patient develops a type B dissection what is the appropriate management?   Connect with Mayo Clinic's Cardiovascular Continuing Medical Education online at https://cveducation.mayo.edu or on Twitter @MayoClinicCV and @MayoCVservices. LinkedIn: Mayo Clinic Cardiovascular Services Cardiovascular Education App: The Mayo Clinic Cardiovascular CME App is an innovative educational platform that features cardiology-focused continuing medical education wherever and whenever you need it. Use this app to access other free content and browse upcoming courses. Download it for free in Apple or Google stores today! No CME credit offered for this episode. Podcast episode transcript found here.

In this insightful episode, we explore the complex world of scoliosis, a spinal condition characterized by a sideways curvature. The podcast delves into the various types of scoliosis, each linked to specific causes, and emphasizes the importance of proactive treatment regardless of the type. Understanding the nature and cause of scoliosis can significantly influence the approach to treatment and management. Types of Scoliosis Scoliosis is not a one-size-fits-all condition; it encompasses multiple types, each with distinct characteristics: Idiopathic Scoliosis: Representing about 80% of cases, idiopathic scoliosis has no known single cause but is considered multifactorial, potentially involving genetic, environmental, and lifestyle factors. Neuromuscular Scoliosis: Often associated with conditions affecting muscles and nerves, this type involves underlying neuromuscular disorders that can impact the spine's alignment. Degenerative Scoliosis: Typically occurring in adults, this form results from spinal degeneration and can accelerate due to age-related changes or past unresolved spinal issues. Congenital Scoliosis: Present from birth, this type arises from spinal bone malformations developed in utero, such as hemivertebrae. Traumatic Scoliosis: Caused by injuries or trauma, this type can lead to immediate curvature due to the impact on the spinal structure. Proactive Treatment Strategies The podcast highlights the importance of proactive treatment for managing scoliosis. The structural nature of scoliosis means that even if the initial cause is addressed, the spinal curvature remains and must be treated as an independent issue. Key points include: Progressive Nature of Scoliosis: Scoliosis can progress rapidly during adolescence but also continues to develop slowly in adulthood, emphasizing the need for timely intervention. Treatment Principles: Successful treatment depends on early detection. Smaller curvatures respond better to treatment, and younger patients typically see more favorable outcomes. Holistic Approach: Each aspect of scoliosis, particularly in syndromic cases like Marfan's syndrome, should be treated separately to manage the overall condition effectively. The Impact of Early and Proactive Treatment By addressing scoliosis proactively, patients can achieve better health outcomes and reduce the condition's impact on their life. The podcast strongly recommends engaging with specialists who focus on reducing the curvature size early to improve overall health and well-being. Listeners are encouraged to subscribe for more valuable insights into scoliosis management and to engage with the content by sharing their experiences or questions in the comments. This episode not only educates on the various types of scoliosis but also empowers patients and families with the knowledge to seek out and advocate for appropriate and timely treatments. Artlist.io 847544

In this enlightening episode, we explore the complex relationship between scoliosis and arthritis, two conditions often found coexisting in patients. With insights into their causes, progression, and interconnected impacts, we aim to demystify these conditions and suggest proactive approaches to manage and potentially mitigate their effects. Understanding Scoliosis and Arthritis Scoliosis is characterized by an unnatural sideways curvature of the spine with a rotational component, diagnosed via Cobb angle measurements of 10 degrees or greater. Arthritis, on the other hand, involves the deterioration of cartilage at joint surfaces, leading to pain and impaired movement. It primarily manifests as osteoarthritis, due to asymmetrical wear or general thinning of cartilage, or rheumatoid arthritis, an autoimmune disorder causing joint inflammation. Types of Scoliosis This podcast delves into various types of scoliosis: Idiopathic Scoliosis: No known cause, making it unpredictable. Degenerative Scoliosis: Results from long-standing spinal misalignments or injuries, typically emerging in later life. Neuromuscular Scoliosis: Linked to conditions affecting nerves or muscles, such as Marfan's or Ehlers-Danlos syndrome. Congenital Scoliosis: Arises from a developmental anomaly like a hemivertebra. Traumatic Scoliosis: Caused by significant spine trauma. The Scoliosis-Arthritis Connection Degenerative changes in the spine, similar to those seen in osteoarthritis, can lead to or exacerbate scoliosis, creating a cyclic relationship where each condition worsens the other. As scoliosis progresses, it generates asymmetrical forces in the spine, increasing the likelihood of developing osteoarthritis. This interplay can accelerate the degeneration of spinal structures and intensify symptoms such as pain, stiffness, and nerve irritation, often manifesting as sciatica or tingling in extremities. Proactive Management Strategies Recognizing the interdependence of scoliosis and osteoarthritis underscores the importance of early intervention and maintaining spinal alignment. Proactive treatments focusing on spinal integrity can significantly slow the progression of both conditions, reduce symptoms, and improve quality of life. Final Thoughts This episode emphasizes the necessity of understanding the nuances between scoliosis and arthritis to effectively manage their coexistence. For individuals dealing with either or both conditions, addressing the root causes and early management is crucial to preventing further complications. Listeners are encouraged to subscribe and engage with future content to stay informed about the latest insights into scoliosis and other related health topics. Artlist.io 847544

Marfan syndrome is a genetic disorder that makes renders the body's connective tissues incredibly fragile; this can weaken the heart, leading to potentially fatal aneurysms. What's more, anyone with the condition has a 50/50 chance of passing it on to their children.Dr Anne Child is a clinical geneticist who's dedicated her professional life to finding answers and solutions for people affected by Marfan's. Born in Canada, she met her British future-husband while working in Montreal in a case she describes as "love at first sight" - and in the 1970s she relocated her life to the UK.There, an encounter with a Marfan patient she was unable to help set Anne on a career path for life. She subsequently established the team that discovered the gene responsible for Marfan's, and founded the Marfan Trust to drive further research. Since then, life expectancy for those with the condition has jumped from 32 years old, to over 70. Speaking to Professor Jim Al-Khalili, Anne shares how she and her team achieved this remarkable turnaround.Presented by Jim Al-Khalili Produced by Lucy Taylor

Too busy to read the Lens? Listen to our weekly summary here! In this week's episode we discuss: Two is better than one! Low-level red light therapy in conjunction with orthokeratology contact lenses was more efficacious in reducing axial length progression in children with myopia. Bias reduction tools are associated with increased diversity within ophthalmology residency programs, but certain tools may be more effective than others. Greater axial length and incomplete capsule removal may be associated with an increased risk of retinal detachment in Marfan patients who have undergone lens removal. Machine learning can analyze objective ophthalmic structural and functional data to identify early markers of cognitive impairment.

After my recent renal dissection, kidney infarction, and iliac dissection with Vascular Ehlers-Danlos Syndrome (VEDS), I wanted to know what emotional recovery was like for others after medical events. This episode features clips of people with VEDS, Marfan, and Loeys-Dietz syndromes, sharing what emotional recovery was like for them after diagnosis, major medical events and … Read More Read More

This week on Bad Behavior: Comedian Carmen Lynch, despite public opinion, does NOT have Marfan syndrome! She'll play a game of Heaven or Hell inspired by her comedy special on YouTube, “QUEEF WEEK.” Plus, Carmen shares a morally ambiguous story about lying to her mother about spending the night with a guy. Will Carmen be deemed good or bad? Leave a voice message or text your morally questionable story and YOU could be featured on Bad Behavior: (929) 390-1436 Connect with Bad Behavior: Instagram | TikTok | Sterling and Blair on Instagram | Sterling and Blair on TikTok Original music by HoliznaCC0, Ketsa, and Serge Quadrado. Licensed under Creative Commons: By Attribution 4.0 License.

00:00:00 Burna Boy Ft. Prince Swanny - Tested, Approved & Trusted [Remix] (Dirty) 00:01:02 Adesoga - Flashes (Official Audio) 00:02:08 Ruger & Bnxn - Bae Bae - Da Phonk Club Edit 00:03:12 Kizz Daniel - Showa 00:03:57 Wizkid ft Shenseea & Skillibeng - Slip N Slide (Radio Edit) 00:04:54 CKay ft. Olamide - Wahala (DJcity Intro - Dirty) 00:06:03 Sherwin Gardner - Find Me Here 00:06:59 Rema - Trouble Maker (DJcity Intro - Dirty) 00:07:49 Burna Boy ft. 21 Savage - Sittin' On Top Of The World (DJcity Intro - Clean) 00:08:28 Usher Ft. Pheelz - Ruin (MMP Intro Edit) (Clean) 00:09:27 KES - SOS 00:10:39 Libianca - People (Radio Edit) 00:12:20 BYRON MESSIA - TALIBANS RMX EDIT 00:13:10 NyceNation X S-carter - More (Clean) 00:14:06 Ayra Starr - Commas 00:15:14 Kes - Keep My Cool - Madness Muv X DSM League Remix 00:16:19 Kes The Band - Yes Please (Intro Edit) 00:17:10 Seyl Vibez - Cana 00:18:51 Khaid x Gyakie - Run Away (Omalicha) 00:19:32 Adesoga - Sing So 00:20:11 Wizkid - Balance (Main) (MMP Intro Edit) 00:21:32 Tyla Ft. Gunna & Skillibeng - Jump (MMP Intro Edit) (Clean) 00:22:36 Masicka x Fave - Fight For Us (Clean) 00:24:48 Tems - Love Me JeJe (Main) (MMP Intro Edit) 00:26:03 Taylor Swift - Cruel Summer - Madness Muv Remix 00:27:55 The Weeknd - Starboy [Gilla Remix] (Main) (MMP Intro Edit) 00:29:28 Timaya & Tiwa Savage - In My Head (Clean) 00:29:52 KES - Talk To Me 00:30:33 Tyla - On & On (Clean) 00:31:18 Ed Sheeran - Shape Of You [Dan Bravo Amapiano Remix] (MMP Intro Edit) 00:32:09 Burna Boy - For My Hand feat. Ed Sheeran [Dan Bravo Remix] (Intro Edit) (Main) 00:33:05 Dj Snake & Justin Bieber - Let Me Love You [Dan Bravo Remix] (Intro Edit) (Clean) 00:33:49 Aaliyah - Rock The Boat [Iverson Edit] (Main) 00:34:44 Valiant - Bubble Gum [Madness Mux X Dsm League Amapiano Remix] [Clean] (Main) 00:36:14 Blak Ryno - Nursery Rhymes - Madness Mux X DSM League Amapiano Remix (Clean) 00:36:35 Vybz Kartel - Go Go Club - Madness Mux X DSM League Amapiano Remix (Clean) 00:37:18 Valiant - Mad Out - Madness Mux X DSM League Amapiano Remix (Clean) 00:37:46 Nigy Boy - Confinent - Madness Mux X DSM League Amapiano Remix (Clean) 00:38:07 GBM Nutron x Marfan x Madness Muv - Down Dey (Marfan Moombah Remix) 00:38:50 Teejay - WEED & MONEY (BD-Mix) (Radio Edit) 00:39:33 Bayanni - Ta Ta Ta (DJcity Intro) 00:40:05 Victony & Tempoe - Soweto (Clean) 00:40:54 Fireboy DML Ft. Asake - Bandana (Clean) 00:41:43 WIZKID (Feat. Ayra Starr) - 2 SUGAR (Main) 00:42:53 Major Lazer, Justin Bieber - Cold Water [IVERSON Edit] (Intro Edit) (Main) 00:43:26 Brick & Lace - Love Is Wicked (HXRIS & Dan Bravo Remix) (Clean8Mix) 00:44:13 Tekno Ft. Vybz Kartel And Dre Skull - Telephone (Mmp Intro) (Dirty) 00:45:05 Seyl Vibez - Different Pattern 00:45:45 Kizz Daniel - Too Busy To Be Bae 00:46:47 KiDi - Danger 00:47:33 Odumodublvck, Blood Civilian, Wale - Blood On The Dance Floor (RAW) 00:48:05 Reekado Banks - Fakosi 00:48:49 Titom & Yuppe ft. EeQue & S.N.E - Tshwala Bam 00:49:56 Omah Lay - SoSo (Clean) 9:00pm 00:50:53 Drake ft Popcaan - Controlla (Deejay Massive Yey Amapiano Edit) (Clean16Mix) 00:51:25 J-LAVA - 7.12.23 Amapiano 112bpm 00:52:19 Sean Paul - Temperature (Sandom Amapiano Remix) (Clean16Mix) 00:54:16 Kman 6ixx - No Lethal (Radio Edit)

Masicka - Fight For UsAyra Starr - CommasTyla, Gunna & Skillibeng - JumpTarrus Riley& Konshens - Simple BlessingsLogiq - ProtectionShenseea Ft. Masicka & Di Genius - Hit & Run (MMP Intro Edit) (Clean)450 - What If (Clean)Shenseea - Die For YouValiant - Lumbah (Chris Genius Edit)RajahWild - Monster..CLEANIntence - SHH (thisisISRAEL Intro Edit)RajahWild - Dolly House (Clean Verson)CHRONIC LAW & JIGGY D - WANTED LUV (Clean)Rvssian, Rauw Alejandro & Ayra Starr - SantaBad Bunny - Moscow Mule (Starjack Reggaeton Hype Redrum) (Dirty) 100Jack Harlow - Lovin On Me [Super Clean] 5A 105BURNA-BOY-Tested, Approved & Trusted (feat. Prince Swanny)[CLEAN]Kes - Dutty Flex (Intro Edit)Olatunji & System 32 - Midnight CruiseMical Teja - RunawayKES - Where Would I BeKES - Tack BackMachel Montano x Kassav - DANCE' { Prod. by Lashley ' Motto ' Winter }Farmer Nappy & Friends - Backyard Jam (Dj Kayla G Vibes Edit) 110Nadia Batson - Market - Secret Society EditsGBM Nutron, Marfan, Madness Muv, Spice, Sean Paul, Shaggy - GBM Down Dey Vs Spice Go Down Deh (Muv 105-90bpm Transition)Shenseea - Neva NevaThe Weeknd - Blinding LightsRihanna - Cheers (Drink to That)Sia Ft. Sean Paul - Cheap Thrills (Clean)50 Cent - In Da Club (Trias Remix)Drake - Push Ups (Drop & Give Me Fifty) (Clean)

Betsy Matarrita was born and raised in Costa Rica, and was diagnosed with Marfan syndrome when she was a young child. Growing up, she didn’t know anyone else with Marfan syndrome, and they had to come to the US to get medical care for scoliosis as a child, when her and her family did not … Read More Read More

Kevin Kroeker shares his story with Loeys-Dietz syndrome, which he was diagnosed with in his 50s after a spontaneous coronary artery dissection (SCAD). His Loeys-Dietz diagnosis explained a prior event with his carotid artery, and uncovered a larger family history of Loeys-Dietz. Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, … Read More Read More

How does one successfully launch a boutique dental practice in a saturated market like New York City? In this episode, we speak to, Dr. Arti Jagirdar, who shares her journey of establishing Flatiron Dental, a distinguished dental practice that offers more than just the basics. She offers a candid account of her decision to adopt a patient-centric, fee-for-service model and its subsequent impact on the practice. Dr. Jagirdar's unique offerings such as sleep apnea treatments and airway consultations have been key in differentiating Flatiron Dental in the bustling cityscape of New York.We also delve deeper into the nitty-gritty of setting up shop, from navigating lengthy lease negotiations to the vital role of legal consultations in contract signings. Dr. Jagirdar also recounts the unexpected challenge of a trademark battle over her practice's name, underlining the importance of resilience, legal advice, and the power of standing by your choices with integrity. Rounding up the conversation, we discuss the critical role of cultivating relationships and harnessing the power of word-of-mouth in attracting new patients to your practice, and how becoming a thought leader in the dental community can build a strong brand presence.What You'll Learn in This Episode:The importance of a unique service offering in a densely saturated marketInsights into the fee-for-service model in dentistryWhy never to sign a contract without a lawyer's approvalHow to handle unexpected challenge such as trademark disputesThe power of word-of-mouth and relationships in building a patient baseThe potential for thought leadership to strengthen your brandDon't miss this episode full of valuable insights from Dr. Jagirdar - it's brimming with lessons for anyone wanting to make their mark in a competitive market!‍‍Guest: Dr. Arti JagirdarPractice Name: Flatiron DentalCheck out Arti's Media:Website: https://www.flatirondentalnyc.com/Instagram: https://www.instagram.com/flatirondental/Flatiron Dental Playlist: https://open.spotify.com/playlist/5qHLpjIikJHlEOVv3Y7dYY?si=5d09cbd507704653‍Other Mentions and Links:‍Podcasts:438: DR. AVI PATEL | CLEAR ALIGNER ADVISORBooks:Man's Search for MeaningThe Denial of DeathThe Artist's Way: 30th Anniversary EditionSoftware:Open DentalBusinesses/Brands:Henry ScheinWonderist AgencyHDA Accounting FirmMethod - Unified SmilesTend Offices in NYCIdeal PracticesBreakaway SeminarsInvisalignQueensboro Plaza Dental CareLocations/Establishments:NYUFordham LawMount KilimanjaroKois CenterBanks/Financial Institutions:First Citizens BankBank of America Wells FargoHuntington BankProvideOrganizations:HIPAAOSHASpear EducationPeople/Connections:Robert MontgomeryDr. Michael NguyenDr. Frank SpearDr. Alina Lane - all smiles DentistryAlan Withall - Henry ScheinDr. Scott LeuneJayme Amos - Ideal PracticesElizabeth Mulderig - Ideal PracticesReed Wrisley - Practice Real Estate GroupPatrick Black - Precision Contracting CorpJaclyn Ionin - Intellectual Property AttorneyMike Gharib - Ideal PracticesChrystle Cu - CocoflossOther:Maslow's Hierarchy of NeedsMarfan Syndrome‍Host: Michael Arias‍Website: The Dental Marketer Join my newsletter: https://thedentalmarketer.lpages.co/newsletter/‍Join this podcast's Facebook Group: The Dental Marketer Society‍Please don't forget to share with us on Instagram when you are listening to the podcast AND if you are really wanting to show us love, then please leave a 5 star review on iTunes! [Click here to leave a review on iTunes]‍p.s. Some links are affiliate links, which means that if you choose to make a purchase, I will earn a commission. This commission comes at no additional cost to you. Please understand that we have experience with these products/ company, and I recommend them because they are helpful and useful, not because of the small commissions we make if you decide to buy something. Please do not spend any money unless you feel you need them or that they will help you with your goals.‍‍

Liam Nelson was diagnosed with Marfan syndrome when he was 11 years old. In this interview, we talk about how he handled his diagnosis, his career in film and comedy, his involvement in the Marfan community, and more. Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, and … Read More Read More

Lauren Atherton was diagnosed with Loeys-Dietz syndrome after an aortic dissection when she was 28 years old. In this interview, we talk about that dissection, how she’s dealt with her diagnosis, and more.  Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, and marfan.org.  If you would like … Read More Read More

Michelle Lucena was diagnosed with VEDS, or Vascular Ehlers-Danlos syndrome, after two carotid artery dissections. In this interview, we talk about how these dissections affected her military career, how she’s handled her diagnosis, and how she’s held onto her passion of physical fitness. Find more information, including support groups and webinars, about VEDS, Marfan, and … Read More Read More

Taborski McClellen was diagnosed with Marfan syndrome between 12-13 years old. In the time since his diagnosis, he’s had two retinal detachments, a lung collapse, and an aortic dissection. In this interview, he talks about his story with Marfan, and his book, Living with Marfan syndrome in the Hands of GOD.  Find more information, including … Read More Read More

I was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS), in 2017. In this episode, I’m joined by my brother, Jacob Frederick, to talk about his experience with my diagnosis and hospitalizations.  Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, and marfan.org.  If you would like to share your … Read More Read More

Allison’s son, James, was diagnosed with Marfan when he was 3 years old, following a lens dislocation. James is now 8 years old, and in this episode, Allison talks about his diagnosis story, how they handle communicating Marfan with James, research, navigating the US healthcare care system, and more.  Find more information, including support groups … Read More Read More

Grace Barnhart was diagnosed with Marfan syndrome when she was 4 years old. She’s also a caregiver to her dad who has Marfan syndrome. In this episode, she talks about growing up with Marfan, getting involved in advocacy and community at a young age, medical events she’s dealt with of her own and of her … Read More Read More

Dominga Noe was diagnosed with Marfan syndrome at 9 years old following her father’s aortic dissection. Since her diagnosis, she’s become very involved in the community, and now runs the teen program as an employee of The Marfan Foundation.  Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, … Read More Read More

Delaney Kinstner was diagnosed with Vascular Ehlers-Danlos Syndrome after a serious medical event 10 days after delivering her child caused her to be sedated and on ECMO for several weeks.  Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, and marfan.org.  If you would like to share your … Read More Read More

This week we're featuring another podcast from another Marfan — one who beat us to the punch. David Gomez was Marfa's first podcaster. His show What's wrong with people? is an unfiltered look at daily life in Marfa. In this episode, we chat with David and hear a couple minutes of an episode that investigates whether a certain pair of celebrity sisters visited Marfa. Listen to David's podcast What's wrong with people? here. Produced by Sally Beauvais, Zoe Kurland, and Elise Pepple.

Welcome to Episode 56 of the Movement Logic podcast. In this episode, Sarah is talking about hypermobility, and what if any connection exists between hypermobility and osteoporosis.You will learn: Hypermobility, EDS, and Marfan's Syndrome, explained Is there any agreement in the research around hypermobility and osteoporosis Why research quality always matters when we're trying to determine a connection between conditions What does ‘statistically significant' mean and why it matters for research What criteria matter when we're looking at research studies Why hypermobile people should be lifting heavy weights, regardless of what the research showsAlison Lloyd InstagramPrevalence of generalized joint hypermobility, musculoskeletal injuries, and chronic musculoskeletal pain among American university studentsBeighton ScaleHospital Del Mar ScaleEhlers-Danlos SocietyThe Marfan FoundationHypermobility syndrome increases the risk for low bone massThe Relationship of Joint Hypermobility, Bone Mineral Density, and Osteoarthritis in the General Population:The Chingford StudyUltrasonographic, axial, and peripheral measurements in female patients with benign hypermobility syndromeBone Disease in Patients with Ehlers-Danlos SyndromesSign up for our Bone Density Course: Lift for Longevity before the October 8th deadline!

In this episode of Staying Connected, we talk to Ben Weisman, who was diagnosed with Marfan syndrome at birth and is the third generation in his family to live with Marfan syndrome. Ben shares his story of growing up with Marfan, finding and building community, his involvement in the teen program at the Marfan Foundation, … Read More Read More

Episode 146: RA vs OA    Future Dr. Magurany explains how to differentiate rheumatoid arthritis from osteoarthritis.  Written by Thomas Magurany, MSIV, Ross University School of Medicine. Comments by Hector Arreaza, MD. You are listening to Rio Bravo qWeek Podcast, your weekly dose of knowledge brought to you by the Rio Bravo Family Medicine Residency Program from Bakersfield, California, a UCLA-affiliated program sponsored by Clinica Sierra Vista, Let Us Be Your Healthcare Home. This podcast was created for educational purposes only. Visit your primary care provider for additional medical advice.1. Etiology: Rheumatoid Arthritis (RA): RA is an autoimmune disease wherein the immune system mistakenly attacks healthy tissues, particularly the synovial joints, usually between the ages of 30-50. Genetic predisposition, environmental factors such as smoking or infections, hormonal imbalances, and lower socioeconomic status have been associated with an increased risk of developing RA(1).Osteoarthritis (OA): OA primarily arises due to mechanical stress on the joints over time. Factors contributing to OA include age, obesity, joint injury or trauma, repetitive joint use or overuse, genetic abnormalities in collagen structure, and metabolic disorders affecting cartilage metabolism (2).The greatest risk factor for the development of OA is age with most patients presenting after 45 years of age. The greatest modifiable risk factor for OA is weight. People with a BMI >30 were found to have a 6.8 times greater risk of developing OA. (3) Primary OA is the most common and is diagnosed in the presence of associated risk factors such as: older age, female gender, obesity, anatomical factors, muscle weakness, and joint injury (occupation/sports activities) in the absence of trauma or disease. Secondary OA occurs alongside a pre-existing joint deformity including trauma or injury, congenital joint disorders, inflammatory arthritis, avascular necrosis, infectious arthritis, Paget disease, osteopetrosis, osteochondritis dissecans, metabolic disorders (hemochromatosis, Wilson's disease), Ehlers-Danlos syndrome, or Marfan syndrome.2. Pathogenesis:Rheumatoid Arthritis (RA):In some patients, RA is triggered by some sort of environmental factor in a genetically predisposed person. The best example is tobacco use in a patient with HLA-DRB1. The immune response in RA starts at sites distant from the synovial joints, such as the lung, gums, and GI tract. In these tissues, modified proteins are produced by biochemical reactions such as citrullination. (4)In RA, an abnormal immune response leads to chronic inflammation within the synovium lining the joints. The inflammatory cytokines released cause synovitis and lead to the destruction of articular cartilage and bone erosion through pannus formation. Immune cells infiltrate the synovium causing further damage. (4) In summary: formation of antibodies to citrullinated proteins, these antibodies begin attacking wrong tissues.Osteoarthritis (OA):The primary pathological feature of OA is the degeneration of articular cartilage that cushions the joints causing surface irregularity, and focal erosions. These changes progress down the bone and eventually involve the entire joint surface. Mechanical stress triggers chondrocyte dysfunction, leading to an imbalance between cartilage synthesis and degradation that cause cartilage outgrowths that ossify and form osteophytes. This results in the release of enzymes that degrade the extracellular matrix, leading to progressive cartilage loss. As more of the collagen matrix is damaged, chondrocytes undergo apoptosis. Improperly mineralized collagen causes subchondral bone thickening; in advanced disease, bone cysts infrequently occur (5). In summary: Osteophytes formation and cartilage loss.3. Clinical Presentation:Rheumatoid Arthritis (RA):The most common and predominant symptoms include joint pain and swelling, usually starting insidiously over a period of weeks to months. RA typically affects multiple joints symmetrically, commonly involving small joints of the hands, wrists, feet and progresses to involve proximal joints if left untreated. Morning stiffness lasting more than an hour is a characteristic feature. The affected joint will be painful if pressure is applied to the joint or on movement with or without joint swelling. Synovial thickening with a "boggy" feel on palpation will be noted. The classical physical findings of ulnar deviation, metacarpophalangeal joint subluxation, swan neck deformity, Boutonniere deformity, and the "bowstring" sign (prominent and tight tendons on the dorsum of the hand) are seen in advanced chronic disease. (4) Around ¼ of patients with RA may present with rheumatoid noduleswhich are well demarcated, flesh-colored subcutaneous lumps. They are usually described as being doughy or firm and are not typically tender unless they are inflamed. They are usually found on areas susceptible to repeated trauma or pressure and include the elbows, fingers and forearms. Osteoarthritis (OA):OA primarily affects weight-bearing joints such as knees, hips, spine, and hands. Symptoms include joint pain aggravated by activity and relieved with rest, morning stiffness lasting less than 30 minutes, joint swelling due to secondary inflammation, and occasionally the formation of bony outgrowths called osteophytes (6). Tenderness may be present at joint lines, and there may be pain upon passive motion. Classic physical exam findings in hand OA include Heberden's nodes (posterolateral swellings of DIP joints), Bouchard's nodes (posterolateral swellings of PIP joints), and “squaring” at the base of the thumb (first Carpal-Metarcapal or CMC joints), bony enlargement, crepitus, effusions (non-inflammatory), and a limited range of motion. Patients may also experience bony swelling, joint deformity, and instability (patients complain that the joint is “giving way” or “buckling,” a sign of muscle weakness). (5)4. Lab findings:Rheumatoid Arthritis: Laboratory testing often reveals anemia of chronic disease (increased ferritin, decreased iron and TIBC) and thrombocytosis. Neutropenia may be present if Felty syndrome is present. RF is present in 80-90% of patients with a sensitivity of 69%. In patients who are asymptomatic or those that have arthralgias, a positive RF and especially CCP predicts the onset of clinical RA. Patients with RA with RF, ACPA, or both are designated as having seropositive RA. About 10% of RA patients are seronegative. ESR and levels of CRP are usually elevated in patients with active disease and can be used to assess disease activity. The synovial fluid in RA will also reveal low C3 and C4 levels despite elevated serum levels.(4) Some non-specific inflammatory markers such as ESR, CRP can help you guide your diagnosis of RA.Osteoarthritis:Lab findings are not significant. Clinical diagnosis if the following are present: 1) pain worse with activity and better with rest, 2) age more than 45 years, 3) morning stiffness lasting less than 30 minutes, 4) bony joint enlargement, and 5) limitation in range of motion. Blood tests such as CBC, ESR, rheumatoid factor, ANA are usually normal but usually ordered to rule out an inflammatory process. Synovial fluid should show a white blood cell count less than 2,000/microL, predominantly mononuclear cells (non-inflammatory). X-rays of the affected joint can show findings consistent with OA, such as marginal osteophytes, joint space narrowing, subchondral sclerosis, and cysts; however, radiographic findings do not correlate to the severity of the disease and may not be present early in the disease. (5)5. Treatment Approaches:Rheumatoid Arthritis (RA):There is no cure for RA.The goal of treatment in RA is inducing remission and optimizing quality of life. This is initially done by beginning DMARDs, include methotrexate, hydroxychloroquine, sulfasalazine, and leflunomide. Methotrexate is the initial DMARD of choice. Anti-TNF-alpha inhibitors include etanercept, infliximab, adalimumab, golimumab, and certolizumab may be used if DMARDs fail. NSAIDs are used to control joint pain and inflammation. Corticosteroids may be used as a bridge therapy to DMARDs in a newly diagnosed patient with a very active disease. (7) Coronary artery disease has a strong association with RA. RA is an independent risk factor for the development of coronary artery disease (CAD) and accelerates the development of CAD in these patients. Accelerated atherosclerosis is the primary cause of morbidity and mortality. There is increased insulin resistance and diabetes mellitus associated with RA and is thought to be due to chronic inflammation. When treated with specific DMARDs such as hydroxychloroquine, methotrexate, and TNF antagonists, there was a marked improvement in glucose control in these patients. (8) RA is not just a disease of the joints, it is able to affect multiple organ systems.Osteoarthritis (OA):OA treatment aims at reducing pain and improving joint function through a combination of non-pharmacological interventions like exercise programs tailored to strengthen muscles around affected joints, weight management strategies, and assistive devices like braces or walking aids if required (9). Medications including analgesics or nonsteroidal anti-inflammatory drugs may be prescribed for pain relief when necessary. Duloxetine has modest activity in relieving pain associated with OA. Intraarticular glucocorticoid joint injections have a variable response but are an option for those wanting to postpone surgical intervention. In severe cases where conservative measures fail, surgical options like joint replacement may be considered (9). Weight loss is a critical intervention in those who have overweight and obesity; each pound of weight loss can decrease the load across the knee 3 to 6-fold. (5) Summary: Medications (NSAIDs, topical, duloxetine), weight loss, PT, intraarticular injections of corticosteroids, and joint replacement.________________________________Conclusion: Now we conclude episode number 146, “RA vs. OA.” Future Dr. Magurany explained that rheumatoid arthritis is an autoimmune disease that presents with joint pain and inflammation, mostly on hands and small joints, accompanied by morning stiffness longer than 1 hour. The rheumatoid factor and ACPA may be positive in a percentage of patients but not always. The base of treatment is early treatment with disease-modifying antirheumatic drugs to induce remission of the disease. OA affects weight-bearing joints with little to no inflammation, treatment is mainly lifestyle modifications, analgesics, intraarticular injections, and joint replacement.This week we thank Hector Arreaza and Thomas Magurany. Audio editing by Adrianne Silva.Even without trying, every night you go to bed a little wiser. Thanks for listening to Rio Bravo qWeek Podcast. We want to hear from you, send us an email at RioBravoqWeek@clinicasierravista.org, or visit our website riobravofmrp.org/qweek. See you next week! _____________________References:Myasoedova E, Crowson CS & Gabriel SE et al. (2010). Is the incidence of rheumatoid arthritis rising?: Results from Olmsted County, Minnesota, 1955-2007. Arthritis and Rheumatism, 62(6), 1576-1582.Goldring MB & Goldring SR. (2007). Osteoarthritis. Journal of Cellular Physiology, 213(3), 626-634.King LK, March L, Anandacoomarasamy A. Obesity & osteoarthritis. Indian J Med Res. 2013;138(2):185-93. PMID: 24056594; PMCID: PMC3788203.Chauhan K, Jandu JS, Brent LH, et al. Rheumatoid Arthritis. [Updated 2023 May 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-.Sen R, Hurley JA. Osteoarthritis. [Updated 2023 Feb 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-.Hunter DJ, Bierma-Zeinstra S. & Eckstein F. (2014). OARSI Clinical Trials Recommendations: Design and conduct of clinical trials for primary hip and knee osteoarthritis: An expert consensus initiative of the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO) Task Force in collaboration with the Osteoarthritis Research Society International (OARSI). Osteoarthritis Cartilage, 22(7), 363-381.van Everdingen AA, Jacobs JW, Siewertsz Van Reesema DR, Bijlsma JW. Low-dose prednisone therapy for patients with early active rheumatoid arthritis: clinical efficacy, disease-modifying properties, and side effects: a randomized, double-blind, placebo-controlled clinical trial. Ann Intern Med. 2002 Jan 1;136(1):1-12. doi: 10.7326/0003-4819-136-1-200201010-00006. PMID: 11777359.Nicolau J, Lequerré T, Bacquet H, Vittecoq O. Rheumatoid arthritis, insulin resistance, and diabetes. Joint Bone Spine. 2017 Jul;84(4):411-416.Fernandes L, Hagen KB, Bijlsma JWJ et al. (2019). EULAR recommendations for non-pharmacological core management of hip and knee osteoarthritis. Annals of Rheumatic Diseases, 79(6), 715-722.Royalty-free music used for this episode: "Driving the Point." Downloaded on July 29, 2023, from https://www.videvo.net/ 

IT'S ANOTHER BRAND NEW GUEST! Liam Nelson teaches us all the (literal) highs and lows of Marfan syndrome: being five feet tall in kindergarten, living in a world not made for you, aggressive masculinity, surgeries, hooking up at Marfan conferences, and meeting Chewbacca.

On today's episode of the "Helping Families Be Happy" podcast, host Dr. Carla Marie Manly, a clinical psychologist, wellness advocate, and author based in Sonoma County, California is going to talk to Louise Sattler, a content creator dedicated to spreading fun and joy for families and children, particularly those with special needs and talents.    Episode Highlights: 01:22 - Louise compares herself to Gumby, emphasizing her flexibility, curiosity, and constant learning. She mentions her belief in being a lifelong learner and her generous nature. 04:12 - Carla acknowledges the beautiful charts and resources provided by Louise including sign expressions in English and Spanish, as well as important words and a bookmark.  08:02: Carla and Louise discuss the importance of communication cards for first responders, parents, and kids. 08:58: Carla mentions the foundational values of healthy families and asks how Louise's work contributes to family happiness. 09:28: Louise acknowledges that their work as a psychologist is not always about delivering happy news, as they often have to inform parents about difficulties their children may be facing, such as autism. However, Louise finds satisfaction in providing parents with resources, connections, and support during challenging times. 10:57: Louise expresses how providing solace to parents going through difficult times brings them comfort. She mentions her personal experience as both a parent and a professional, highlighting the challenges she faced with her own child's reading difficulties. 11:35: Carla commends Louise for naturally addressing the silver lining in their work, which involves providing tools and resources to families.  12:22: Louise emphasizes the importance of teamwork and collaboration in supporting families and children. She mentions relying on a team of experts and professionals to provide comprehensive support for parents and children going through challenges. 14:08: Louise suggests referring to children with special needs as having "unique challenges" or "unique talents" instead of disabilities. She emphasizes the importance of recognizing and celebrating the different lenses through which individuals perceive the world. 14:32 - Carla shares a personal anecdote about their sister with Marfan syndrome, highlighting her exceptional intelligence, creativity, and stamina. She emphasizes the value of focusing on individuals' unique talents and what they bring to the world. 15:22: Louise discusses the importance of resilience and acknowledges the grieving process that parents may go through when their expectations for parenting differ from their reality. She emphasizes the need for professionals to understand and support parents during this process. 16:01: Louise encourages professionals to acknowledge and support parents through the grieving process that may arise from having a child with special needs. 17:03: Resilience is not about being Teflon or unaffected by challenges but rather accepting the circumstances and finding a way to move forward. 18:47: Having realistic expectations is important; Louise mentions how some people struggle with small everyday challenges, hindering their resilience. 19:23: Louise shares an example of someone becoming overly upset about getting the wrong shopping cart, emphasizing the need to move on from small inconveniences. 22:39: The learning tools, the literacy levels, and the care that is taken towards early young child literacy as well as the young adults, there are so many great books. 23:11: There are so many great books for parents and grandparents. As per Louise, a good book is one that she reads, and she is willing to stay past her bedtime to still be reading on the adult level. 3 Key Points: Louise talks about her dedication to supporting children with disabilities and unique challenges, emphasizing the importance of seeing the world through different lenses and being inclusive. Louise highlights the importance of pulling oneself up and moving forward with grace and dignity, without dwelling on the past. Louise loves reviewing books, puzzles, games and traveling. She talks about picking out authors writing these children's books on levels that are very interesting to both parents and child. Tweetable Quotes: "Resilience is not about being Teflon; it's about accepting what life throws at you and finding the strength to move forward." - Louise "Support from others can be the fuel that helps us build resilience in the face of challenges." - Louise "Sometimes the smallest things can feel monumental, hindering our ability to bounce back. Realistic expectations are key to fostering resilience." - Louise "Don't let minor inconveniences become volcanic eruptions. Keep your focus on what truly matters." - Louise "Resilience is not about avoiding pain; it's about facing it with grace and dignity and finding the courage to move forward." – Louise "There are a lot of books that I think are great for professionals as well, on topics like ADHD and autism." - Louise Resources Mentioned Helping Families Be Happy Podcast Apple https://louisesattler.com/ Podcast Editing  

In this episode of Staying Connected, we talk to Maya Brown-Zimmerman, who was diagnosed with Marfan syndrome as a child. Because of her atypical features and medical events, her diagnosis was questioned several times and she was tested for VEDS and Loeys-Dietz before a genetic test revealed she does have an FBN1 mutation, associated with … Read More Read More

The voices you’ll hear in the upcoming season of Staying Connected, featuring community members who will be sharing their stories with Vascular Ehlers-Danlos Syndrome (VEDS), Marfan syndrome, and Loeys-Dietz syndrome. Episodes available every other Saturday starting July 1, wherever you listen to podcasts. You can support this podcast by subscribing to my Patreon at https://www.patreon.com/Translucentone … Read More Read More

HIGH YIELD 2: Marfan's vs Homocystinuria vs Ehlers-Danlos High yield review for the USMLE Step 1 exam. Marfan's syndrome, Ehlers-danlos, and homocystinuria are three distinct diseases that affect connective tissue. They share similarities like tall stature, long fingers, scoliosis, high arched palate, chest wall deformities, joint hypermobility, and lens dislocation. Marfan's syndrome is caused by FBN1 gene mutation on chromosome 15, and it results in defective fibrillin-1. It causes aortic root dilation, and upward lens dislocation. Homocystinuria is caused by a defect in homocysteine breakdown, and it results in elevated levels of homocysteine, which is toxic to the body. It causes thrombosis and downward lens dislocation. Ehlers-Danlos syndrome is caused by a deficiency in type III collagen, and it results in hyperextensible skin, easy bruising and bleeding. It can cause vascular rupture, and it usually occurs in the arterial system. Patients with Marfan's syndrome present with scoliosis, long fingers and toes, and caved-in chest wall. Patients with homocystinuria present with developmental delay, long fingers and toes, and upward lens dislocation. Patients with Ehlers-Danlos syndrome present with recurrent bruising, soft hyperextensible skin, and joint hyperextensibility

Comedian Liam Nelson joins to discuss his first Marfan Conference hook up, playing Chewbacca for fraternity parties, getting a pig heart implant, guys wanting to fight you just for being tall, asking Dikembe Mutombo for shopping advice, and then Russell brags about all the celebrities who've seen his off-Broadway show. You can watch full video of this episode HERE! Join the Patreon for ad-free episodes, exclusive content, and MORE. Follow Liam Nelson on Instagram Get tickets to Liam's shows at https://linktr.ee/liamnelsoncomedy Follow Gianmarco Soresi on Twitter, Instagram, TikTok, Facebook, & YouTube Subscribe to Gianmarco Soresi's email & texting lists Check out Gianmarco Soresi's bi-monthly show in NYC Get tickets to see Gianmarco Soresi in a city near you Watch Gianmarco Soresi's special "Shelf Life" on Amazon Follow Russell Daniels on Twitter & Instagram See Russell in Titanique in NYC! E-mail the show at TheDownsideWGS@gmail.com Produced by Paige Asachika & Gianmarco Soresi Video edited by Dave Columbo Special Thanks Tovah Silbermann Part of the Authentic Podcast Network Original music by Douglas Goodhart Learn more about your ad choices. Visit podcastchoices.com/adchoices

In this episode we explore ways in which the extracellular matrix can be manipulated, including the story of doxycycline, TGF-beta in Marfan syndrome and whether beta blockers can reduce vascular events in vascular EDS. ·        Intro 0:12 ·        Review of previous episode 0:28 ·        In this episode 2:26 ·        The pressure against the vessels 4:06 ·        The pressure against the wall 8:44 ·        Matrix metalloproteinases 10:16 ·        Tadpole study – collagen breakdown 10:35 ·        Tetracycline antibiotics 14:05 ·        Rat model – periodontal disease and hydroxyproline 14:24 ·        Chemically modified tetracyclines 20:14 ·        Mouse model – tetracycline use 22:00 ·        Tetracyclines and other autoimmune conditions 23:22 ·        Marfan syndrome 24:45 ·        Fibrillin and Marfan syndrome 28:48 ·        TGF-beta 29:36 ·        Mouse model – Marfan syndrome and fibrillin 31:14 ·        ARBs and TGF-beta 33:51 ·        TGF-beta and vascular EDS 37:25 ·        Back to the mouse model 38:38 ·        Protein kinase C 39:56 ·        Summary 40:26 Disclosures: Brown reports no relevant financial disclosures. We'd love to hear from you! Send your comments/questions to Dr. Brown at rheuminationspodcast@healio.com. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum. References: Bowen CJ, et al. J Clin Invest. 2020;130:686-698. Brooke BS. Lancet. 2010;doi:10.1016/S0140-6736(10)61155-5 Dietz HC, et al. Am J Med Genet C Semin Med Genet. 2005;doi:10.1002/ajmg.c.30068. Dubacher N, et al. Cardiovasc Res. 2020;116:457-465. Golub LM, et al. SAGE. 1998;doi:10.1177/08959374980120010501. Gross J, et al. PNAS. 1962;doi:10.1073/pnas.48.6.1014 Habashi JP, et al. Science. 2006;312:117-121. Morissette R, et al. Circ Cardiovasc Genet. 2014;7:80-88. Mullen M, et al. Lancet. 2019;394:2263-2270. Neptune ER, et al. Nat Genet. 2003;33:407-411.