Podcasts about myopathy

THE PICKLE JARADRENAL INSUFFICIENCY PODCASTFor over 2 years Jill has been trying to FIGURE out what is happening to her hands. Her first symptom was having a hard time opening packages followed by her fingers 'falling' away from the joints. Initial tests show no arthritis, and no carpal tunnel...all the 'usual' causes were eliminated.Living with a RARE chronic illness you are 'warned' these illnesses travel in 'packs'. Instant fear and anxiety...which illness is this now?EMGs, PLASTIC SURGEON, MUSCLE TESTING and more all lead to the conclusion this is a steroid side effect.Today Jill had an appointment with a rheumatologist who agreed. Her tiny hands are losing muscle from over 13 years of steroid use. Watch on YouTube "CHRONICALLY FIT CANADA" and find out what Jill needs to do to BATTLE back against STEROID MYOPATHY. Watch on YOUTUBE "CHRONICALLY FIT CANADA" and if you have experienced this as well Jill would love for you to leave a comment. And if you find value in these episodes make sure you subscribe so you do not miss when one is posted. More details go to:www.chronicallyfitcanada.com

About this interview: I've let Adam introduce himself - "I was a high profile, Senior Sports Physiotherapist and Head of Medical for professional sports clubs including regional and national Rugby League and at the PGA Golf Tour, Professional Ballet and MOD. I was extremely physically fit and in very good health. Unfortunately, after having the AstraZeneca, Covid vaccine, I became severely unwell and have experienced Pulmonary Embolisms, Ventricular Tachycardia, Severe demyelination of nerves, Myopathy, Dysautonomia, Chronic chest pain to name only a few of my main health problems sustained. My life has been completely destroyed. I can no longer work and have had to move in with my mum. I'm housebound without help and find it extremely difficult to manage on a day to day basis both physically and mentally and have needed a carer. I am speaking out about my experience to raise awareness and hopefully stop this happening to anybody else. I hope people can learn from my experience. I hope one day all the vaccine injured get justice for themselves and their families." Links - Twitter Adam Rowland Twitter GoFundMe Adam Rowland GoFundMe If you value my podcasts, please support the show so that I can continue to speak up by choosing one or both of the following options - ⁠Buy me a coffee⁠ If you want to make a one off donation. Join my Substack To access additional content, you can upgrade to paid from just £3.50 a month To sponsor the Doc Malik Podcast contact us at ⁠hello@docmalik.com⁠  About Doc Malik: Orthopaedic surgeon Ahmad Malik is on a journey of discovery when it comes to health and wellness. Through honest conversations with captivating individuals, Ahmad explores an array of topics that profoundly impact our well-being and health. You can follow us on social media, we are on the following platforms: ⁠Twitter Ahmad⁠ | ⁠Twitter Podcast⁠ | ⁠Instagram Ahmad⁠ | ⁠Instagram Podcast

Dr. Amel Karaa discusses the use of elamipretide in participants with genetically confirmed primary mitochondrial myopathies. Show references: https://n.neurology.org/content/101/3/e238  

Dr. Justin Abbatemarco talks with Dr. Amel Karaa about the use of elamipretide in participants with genetically confirmed primary mitochondrial myopathies. Read the related article in Neurology.  Visit NPUb.org/Podcast for associated article links.

In episode 57 of the Summits Podcast, co-hosts Vince Todd, Jr. and Daniel Abdallah are joined by Dr. Bill Tierney of the Fairbanks School of Public Health in its Department of Global Health. Tune in as Dr. Tierney shares his long-standing career in medical research and how surviving cancer made him a more empathetic doctor. Subscribe to the audio version of the Summits Podcast https://summitspodcast.fireside.fm Find out more about the Heroes Foundation https://www.heroesfoundation.org Find out more about The Brookfield Group https://thebrookfieldgroup.com Discover Platform 24 co-working https://www.platform24.co What's your cancer story? Hosted by cancer survivor and philanthropist Vince Todd, Jr., Chairman and Co-Founder of the Heroes Foundation, and Heroes Foundation Board Member Daniel Abdallah, the Summits Podcast is a place for people to share their stories. Everyone has a cancer story. From battling a deadly disease to caring for a loved one, when we rise up and face life's greatest challenges, we see with a new vision, feel with a greater passion, and think with a deeper perspective. Along the way, paths cross, journeys intersect, and missions converge. For Vince Todd, it was his own cancer diagnosis that led him and his wife, Cindy, to launch the Heroes Foundation to provide meaningful support to cancer patients, education to promote cancer prevention, and resources to advance research for a cure. What started with friends and family grew into a community. The Summits Podcast is an extension of that community. Our stories are what bring us together. Artists, athletes, doctors, business people - we're all family members, community leaders, and activists. Everyone has a story. Anyone can inspire. No one battles alone. Join the conversation. Let's climb the summit together.

Dr Glenn McConell chats with Professor Mark Tarnopolsky from McMaster University in Canada. Mark has done pioneering studies in many areas including sex differences and exercise, HITT training and creatine supplementation. Today we focus on his remarkable work with muscle myopathies. Exercise can be beneficial in all muscle myopathies in regards to function and/or healthspan and/or lifespan. The type of exercise will differ depending on the myopathy: endurance, resistance, or both.0:00. Introduction and overview of Mark's exercise, clinical and research4:45. McMaster University: Stu Phillips, Marty Gibala and Mark6:30. His sex differences and exercise research8:06. Exosomes re drug delivery and exercise15:48. Types of muscle myopathies19:39. Exercise can improve McArdles disease24:29. Weight training, creatine and McArdles disease28:20. Exercise and glycoytic defects, glucose ingestion/fasting30:53. Creatine phosphate34:50. Rhabdomyolysis39:53. Mark's very impressive sporting background and lab numbers41:45. Mark's cardiac ablations42:48. The heart and VO2 max etc43:49. Mitochondrial disease and exercise/RER48:30. Ex training increases VO2 max in mitochondrial disease51:00. Most common mitochondrial diseases53:20. How does exercise improve exercise in mitochondrial diseases55:00. Muscle affected in different genetic deficits57:26. Neuromuscular junction with Dr Tarnopolsky on YouTube58:17. Exercise beneficial with pretty much every muscle disease58:40. Exercise improves strength in Inclusion body myopathy58:50. Exercise improves function etc in muscular dystrophy59:5 Pompe disease. Exercise better than $1million/yr treatment1:01:18. Tends to be focus on pharma despite exercise being better1:03:35. Duchenne muscular dystrophy, exercise and life expectancy1:09.02. Resistance vs strength vs both in muscle defects1:11:38. Different resistance training tactics in mitochondrial patients1:13:02. Creatine and other supplements in muscle defects1:16:29. Study designs, funding,patents etc1:18:07. Do people who don't have muscle myopathies need supplements?1:19:11. Disclosure: Founder and CEO of the Exerkine Company1:21:40. “Exercise the best supplement”1:23:59. Exokines within exosomes not that useful so far1:28:24. Take away messages1:31:42. Mark's running ability/injuries as age etc.1:33:57. Mark's injuries/diet/supplements1:36:54. Outro (9 seconds) Inside Exercise brings to you the who's who of research in exercise metabolism, exercise physiology and exercise's effects on health. With scientific rigor, these researchers discuss popular exercise topics while providing practical strategies for all.The interviewer, Emeritus Professor Glenn McConell, has an international research profile following 30 years of Exercise Metabolism research experience while at The University of Melbourne, Ball State University, Monash University, the University of Copenhagen and Victoria University.He has published over 120 peer reviewed journal articles and recently edited an Exercise Metabolism eBook written by world experts on 17 different topics (https://link.springer.com/book/10.1007/978-3-030-94305-9).Connect with Inside Exercise and Glenn McConell at:Twitter: @Inside_exercise and @GlennMcConell1Instagram: insideexerciseFacebook: Glenn McConellLinkedIn: Glenn McConell https://www.linkedin.com/in/glenn-mcconell-83475460ResearchGate: Glenn McConellEmail: glenn.mcconell@gmail.comSubscribe to Inside exercise:Spotify: shorturl.at/tyGHLApple Podcasts: shorturl.at/oFQRUYouTube: https://www.youtube.com/@insideexerciseAnchor: https://anchor.fm/insideexerciseGoogle Podcasts: shorturl.at/bfhHIAnchor: https://anchor.fm/insideexercisePodcast Addict: https://podcastaddict.com/podcast/4025218Not medical advice.Disclosure: Prof Tarnopolsky is the Founder and CEO of the Exerkine Company.

It's another COVID-19 special on this month's JHLT: The Podcast, which features two articles on COVID-19 and thoracic organ transplantation from the April issue of The Journal of Heart and Lung Transplantation.   First, the editors explore a study entitled “Heart transplantation for COVID-19 myopathy in the United States,” which comes from Gill and colleagues at Cedars Sinai Medical Center in Los Angeles.   The editors welcome first author George Gill, MD, to share what brought him from the United Kingdom to the States, and to talk about the findings of the study. The Digital Media Editors want to know how COVID-19 myocarditis impacts immune response in transplantation, how Dr. Gill manages different etiologies of cardiomyopathy, and some of the limitations of the study.   Next, the editors welcome senior author Nicolaus Schwerk, MD, from Hannover Medical School in Germany to discuss the paper, “COVID-19 in pediatric lung transplant recipients: Clinical Course and outcome.”   Dr. Schwerk is an expert in rare diffuse parenchymal lung diseases and end stage lung diseases, as well as congenital thoracic malformations in children, and performs lung transplantation. This single-center study investigated the impact of SARS-COV-2 infection on pediatric lung transplant recipients between March 2020 and June 2022 at Hannover Medical Center. The key finding of the study was that the COVID-19-positive pediatric lung transplant recipients did remarkably well.   The digital media editors dig in with Dr. Schwerk on the pace of COVID-19 infections in Europe, why antivirals are used differently in pediatric patients, and why pediatric patients typically experience a more mild course of disease.   Follow along at www.jhltonline.org/current, or, if you're an ISHLT member, log in at ishlt.org/journal-of-heart-lung-transplantation.  Don't already get the Journal and want to read along? Join the International Society of Heart and Lung Transplantation at www.ishlt.org for a free subscription, or subscribe today at www.jhltonline.org.    

 On this episode, Karen speaks with Paul Frase, 11-year NFL Super Bowl veteran, and Alison Rockett, CEO and President and Co-Founder of The Joshua Frase Foundation, the parents of Isabella and Joshua. Joshua was born on February 2, 1995, with an ultra-rare and fatal neuromuscular disorder called myotubular myopathy and passed away on December 24, 2010, at the age of 15. Myotubular myopathy claims the lives of 50 percent of its victims before the age of 2. During Joshua's life, Paul and Alison created Joshua's legacy, The Joshua Frase Foundation, a non-profit that raises funds for cutting-edge research in regenerative medicine, gene therapy and genetics. Paul and Alison are here to share the story of their son's life and the impact that The Joshua Frase Foundation has had on finding a cure for myotubular myopathy.

GUEST 1 OVERVIEW: Pauline Hanson is the Senator for Queensland and Leader of One Nation Party. GUEST 2 OVERVIEW: Adam is a 48 year old father of 4. He was super fit and spent the last 17 years working in professional sport as 'Head of Medical Physiotherapist' and 'Trainer and Strength Conditioner'. Adam also worked in senior roles for 'Northern Ballet', ' England Knights Rugby League', 'Castleford Tigers Rugby League', 'St Helens Rugby League', 'Warrington Rugby League', 'Leigh Rugby League' and 'Widness Rugby League'. ' Also was part of UK Tri Forces Military both in the UK and on an operational overseas basis. Adam was part of the PGA golf tour with Patrick Cantley and Jason Day. Adam had Asrazenaka shot Feb and then May 2021. Since Adam has been vaccinated he has been diagnosed with ..... Heart RVOT VT arthymia, Heart Peri/Myocarditis, a blood clotting disease (still trying to work out what exactly it is), suspected Thrombotic Thrombocytopenia, Severe Vaccine Mediated Thrombotic Vasculitus, Widespread Vascular Neuropathy. Adam is also under investigation for Myopathy. Also has long list of symptoms including non-epileptic fits, tinnitus, blurred vision, dysautonimia. Adam approached approximately 50 mainstream media outlets and was turned away, this did not deter Adam who wants to get his information out there to help prevent people taking the COVID jab and save them from going through similar adverse reactions and/or death which is also classed as a side effect from the COVID19 vaccines. 

A client has pain, tension, and a specific referral pattern between her right shoulder and left leg. She was also born with a rare disease that affects her mitochondria, and that carries a host of complications, like high blood pressure, headaches, and diabetes. Can massage therapy help reduce her tension, even if it is led by mitochondrial dysfunction? We ask that question and discuss on this episode of “I Have a Client Who . . .”   Sponsors:     Books of Discovery: www.booksofdiscovery.com     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.                     Recent Articles by Ruth:          “Working with Invisible Pain,” Massage & Bodywork magazine, November/December 2022, page 36, http://www.massageandbodyworkdigital.com/i/1481961-november-december-2022/38   “Unpacking the Long Haul,” Massage & Bodywork magazine, January/February 2022, page 35, www.massageandbodyworkdigital.com/i/1439667-january-february-2022/36.   “Chemotherapy-Induced Peripheral Neuropathy and Massage Therapy,” Massage & Bodywork magazine, September/October 2021, page 33, http://www.massageandbodyworkdigital.com/i/1402696-september-october-2021/34.           “Pharmacology Basics for Massage Therapists,” Massage & Bodywork magazine, July/August 2021, page 32, www.massageandbodyworkdigital.com/i/1384577-july-august-2021/34.       Resources:    Pocket Pathology: https://www.abmp.com/abmp-pocket-pathology-app   Mitochondria (no date) Genome.gov. Available at: https://www.genome.gov/genetics-glossary/Mitochondria (Accessed: 2 December 2022).   Mitochondrial Myopathies | National Institute of Neurological Disorders and Stroke (no date). Available at: https://www.ninds.nih.gov/health-information/disorders/mitochondrial-myopathies (Accessed: 1 December 2022).   Mitochondrial Myopathy Fact Sheet | National Institute of Neurological Disorders and Stroke (no date). Available at: https://www.ninds.nih.gov/mitochondrial-myopathy-fact-sheet (Accessed: 1 December 2022).   Philadelphia, T.C.H. of (2019) Mitochondrial Myopathy. The Children's Hospital of Philadelphia. Available at: https://www.chop.edu/conditions-diseases/mitochondrial-myopathy (Accessed: 6 December 2022).   ‘Primary Mitochondrial Myopathies' (no date) NORD (National Organization for Rare Disorders). Available at: https://rarediseases.org/rare-diseases/primary-mitochondrial-myopathies/ (Accessed: 1 December 2022).  

Recap and review the top pearls from recent episodes #339 Hand and Wrist Pain, #348 Foot and Ankle Pain,  and #351 Myopathy and Myositis with Watto and Paul. It's Tales from the Curbside! (TFTC), our monthly series providing a rapid review of recent Curbsiders episodes for your spaced learning. Note No CME for this mini-episode but visit curbsiders.vcuhealth.org to claim credit for shows #339, #348 and #351! Episodes | Subscribe | Spotify | Swag! | Mailing List | askcurbsiders@gmail.com | Free CME! Show Segments Intro, disclaimer, guest bio Hand and Wrist pain: CMC joint arthritis, tenosynovitis, carpal tunnel syndrome, trigger finger Foot and Ankle pain: Ankle sprains, Achilles tendon injuries, Posterior tibial tendon dysfunction Myopathy and Myositis pearls Outro Credits Written, Produced, and Hosted by: Matthew Watto MD, FACP; Paul Williams MD, FACP   Show Notes: Matthew Watto MD, FACP TFTC Cover Art design: Edison Jyang Technical Production: Pod Paste Full transcript HERE

On this episode, Dr. Axtmayer and Dr. Parker talked about sciatica, what causes it, what can people do to rehab it, and more. They also talked about arthritis, statin induced myopathy, and about the importance of knowing some pharmacology if you work in the rehab setting. Enjoy!

TRC Editor, Dr. Lori Dickerson, PharmD, FCCP talks with Joseph Saseen, PharmD, FCCP, FNLA, Associate Dean for Clinical Affairs, Professor, Department of Clinical Pharmacy and Professor, Department of Family Medicine from the Skaggs School of Pharmacy and Pharmaceutical Sciences at the University of Colorado Anschutz Medical Campus about managing statin intolerance. Listen in as they discuss how to evaluate statin-associated muscle pain...and review strategies to help patients take a statin successfully. You'll also hear practical advice from panelists on TRC's Editorial Advisory Board:Andrea Darby Stewart, MD, Associate Director, Family Medicine Residency at Honor HealthAnthony A. Donato, Jr., MD, MHPE, Associate Program Director, Internal Medicine from the Reading Health System, and Professor of Medicine at the Sidney Kimmel Medical College at Thomas Jefferson UniversitySteven E. Nissen, MD, MACC, the Chief Academic Officer at the Heart and Vascular Institute and the Lewis and Patricia Dickey Chair in Cardiovascular Medicine Professor of Medicine at the Cleveland Clinic Lerner School of Medicine at Case Western Reserve UniversityJoseph Scherger, MD, MPH, Family Physician, Primary Care 365, Eisenhower HealthCraig D. Williams, PharmD, FNLA, BCPS, Clinical Professor, Department of Pharmacy Practice at the Oregon Health and Science UniversityFor the purposes of disclosure, Dr. Steven Nissen reports a relevant financial relationship with AbbVie, Amgen, AstraZeneca, Bristol-Myers Squibb, Eli Lilly, Esperion, Medtronic, Novartis, Pfizer, Silence Therapeutics (grants/research support).The other speakers have nothing to disclose. All relevant financial relationships have been mitigated.Pharmacist's Letter offers CE credit for this podcast. Log in to your Pharmacist's Letter account and look for the title of this podcast in the list of available CE courses.If you're not yet a Pharmacist's Letter subscriber, find out more about our product offerings at trchealthcare.com. Follow or subscribe, rate, and review this show in your favorite podcast app. You can also reach out to provide feedback or make suggestions by emailing us at ContactUs@trchealthcare.com. 

Learn to recognize myositis and myopathy (aka the idiopathic inflammatory myopathies), perform the appropriate initial testing, whether or not statins and exercise are safe to continue, and how to partner with our subspecialist colleagues to treat these patients in primary care.  Recorded LIVE at Johns Hopkins, we're joined by Dr. Lisa Christopher-Stine, @DrLisaCS of @HopkinsMedicine, a rheumatologist and leading expert on myositis and myopathy!  Claim free CME for this episode at curbsiders.vcuhealth.org! Episodes | Subscribe | Spotify | Swag! | Top Picks | Mailing List | thecurbsiders@gmail.com | Free CME! Show Segments Intro, disclaimer, guest bio Guest one-liner, Picks of the Week* Case from Kashlak History and Exam Workup for suspected myositis Cancer screening Safety of statin use and exercise Our role in primary care Audience Questions Outro Credits Written and Produced by: Matthew Watto MD, FACP Show Notes: Matthew Watto MD, FACP Cover Art and Infographic: Andréa Perdigão Hosts: Matthew Watto MD, FACP; Paul Williams MD, FACP    Reviewer: Molly Heublein MD Technical Production: Pod Paste Guest: Lisa Christopher-Stine MD, MPH Sponsor: Grammarly Go to grammarly.com/CURB to sign up for a free account and 20% off when you upgrade to Grammarly Premium. Sponsor: Betterhelp Visit BetterHelp.com/Curb to get 10% off your first month. Sponsor: Wildgrain Sign up at Wildgrain.com/CURB or use CURB at the checkout to get $30 off your first box plus free croissants in every box. Full Transcript HERE The Curbsiders are partnering with VCU Health Continuing Education to offer FREE continuing education credits for physicians and other healthcare professionals. Visit curbsiders.vcuhealth.org and search for this episode to claim credit. 

Join us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT (click here to check out their website), information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial. A Q&A opportunity is included in this important discussion. Parents, patients and families - please join us! This special teleconference/webinar is offered in collaboration by the UMDF and MitoAction. For more information about the Stealth Mitochondrial Myopathy Trial, please call the trial question hotline 1-877-227-5018 Or visit www.clinicaltrials.gov (search Bendavia) Trial Question Hot Line: 1-877-227-5018 https://www.mitoaction.org/resources/stealth-bt-mitochondrial-myopathy-trial/

In this episode we are joined by Senior Clinical Lecturer and Consultant Neurologist Dr James Lilleker to discuss how he approaches the patient presenting with a suspected myopathy

If you are too busy to read the EMEUNET What Is New contributions (https://emeunet.eular.org/what_is_new.cfm), this podcast is exactly for you. Now you can get updated while on the go, with highlights of the most recent publications in the field of Rheumatology, selected for you by EMEUNET members.

Editor's Summary by Kristin Walter, MD, Associate Editor of JAMA, the Journal of the American Medical Association, for the March 22/29, 2022, issue.

AWARENESS IS CRUCIAL FOR LEADERS HOWEVER MYOPATHY AND FOCUS ARE SEPARATED BY A VERY THIN LINE “Leaders must be willing to do the hard work of self leadership, self awareness and personal introspection. Leaders must also understand the line between focus and myopathy. It's entirely too easy to become so wrapped up in personal issues and lose sight of the bigger picture and its global impact. Its great to focus on self improvement and self empowerment just don't lose the perspective of larger reality and the role you play in it.” J Loren Norris WATCH THE VIDEO #leadingleaderspodcast 12-28-21: http://www.jlorennorris.com/podcast/awareness-is-crucial-for-leaders-however-myopathy-and-focus-are-separated-by-a-very-thin-line LOOK FOR LEADING LEADERS ON LIFTABLE.TV ​______________________________ Leading Leaders Podcast is a short but impactful leadership video, blog and podcast distributed 5 days a week by J Loren Norris to promote faith, family and freedom in the face of a global leadership drought. Leadership Training, Interviews and Entertainment #leadingleaderspodcast #storypower #transforminggracetv #jlorennorris jlorennorris.com/podcast Copyright 2021 Tell It Like It Is Inc --- Send in a voice message: https://anchor.fm/j-loren-norris/message

AWARENESS IS CRUCIAL FOR LEADERS HOWEVER MYOPATHY AND FOCUS ARE SEPARATED BY A VERY THIN LINE “Leaders must be willing to do the hard work of self leadership, self awareness and personal introspection. Leaders must also understand the line between focus and myopathy. It's entirely too easy to become so wrapped up in personal issues and lose sight of the bigger picture and its global impact. Its great to focus on self improvement and self empowerment just don't lose the perspective of larger reality and the role you play in it.” J Loren Norris WATCH THE VIDEO #leadingleaderspodcast 12-28-21: http://www.jlorennorris.com/podcast/awareness-is-crucial-for-leaders-however-myopathy-and-focus-are-separated-by-a-very-thin-line LOOK FOR LEADING LEADERS ON LIFTABLE.TV ​______________________________ Leading Leaders Podcast is a short but impactful leadership video, blog and podcast distributed 5 days a week by J Loren Norris to promote faith, family and freedom in the face of a global leadership drought. Leadership Training, Interviews and Entertainment #leadingleaderspodcast #storypower #transforminggracetv #jlorennorris jlorennorris.com/podcast Copyright 2021 Tell It Like It Is Inc --- Send in a voice message: https://anchor.fm/j-loren-norris/message

The guys return again after a false start last year and the mess that was 2020 (and part of 2021.) Will they survive? Will they record again? That's the plan. This week's tangents include: dieting to relieve stress, college radio, the story of why Chad's grandfather believed in UFOS, a strange magazine synchronicity, Dune vs The Foundation, the question of what is Dune really about, mall culture, dealing with PTSD, Cognitive Behavioral Therapy, and why the transporters on Star Trek are murder machines. Mentioned MediaPatreon link: https://www.patreon.com/posts/college-dropout-55510719?utm_medium=clipboard_copy&utm_source=copy_to_clipboard&utm_campaign=postshare (College Dropout Radio #1) TV: https://reelgood.com/show/star-trek-voyager-1995 (Star Trek: Voyager) Podcast: https://www.itmattersbutitdoesnt.com/35-call-chaotic-neutral-with-lam-nguyen/ (Ep 35 - Chaotic Neutral with Lam) Magazine: https://www.fatemag.com/ (Fate) Movie: https://reelgood.com/movie/dune-2020 (Dune) TV: https://reelgood.com/show/foundation-2020 (Foundation) Book: https://www.amazon.com/gp/product/B00B7NPRY8/ref=as_li_qf_asin_il_tl?ie=UTF8&tag=reawitrazbla-20&creative=9325&linkCode=as2&creativeASIN=B00B7NPRY8&linkId=c73683c1d34d5b2aad88a8f34dad54cc (Dune) Book: https://www.amazon.com/gp/product/B000FC1PWA/ref=as_li_qf_asin_il_tl?ie=UTF8&tag=reawitrazbla-20&creative=9325&linkCode=as2&creativeASIN=B000FC1PWA&linkId=93e25d6944a6030f28b6b4803458843b (Foundation) https://www.goodreads.com/book/show/138551.The_Robot_Novels?from_search=true&from_srp=true&qid=aHBw5yln1l&rank=2 (The Robot Series) https://reelgood.com/movie/jasper-mall-2020 (Jasper Mall) https://youtu.be/D__6hwqjZAs (Toto- Africa (playing in an empty shopping centre)) Book: https://www.amazon.com/gp/product/1617754692/ref=as_li_qf_asin_il_tl?ie=UTF8&tag=reawitrazbla-20&creative=9325&linkCode=as2&creativeASIN=1617754692&linkId=c4fd69ea0988329a73bba64ff657f016 (Born on the Fourth of July) Movie: https://reelgood.com/movie/born-on-the-fourth-of-july-1989 (Born on the Fourth of July) Book: https://www.amazon.com/gp/product/B071RBPV1V/ref=as_li_qf_asin_il_tl?ie=UTF8&tag=reawitrazbla-20&creative=9325&linkCode=as2&creativeASIN=B071RBPV1V&linkId=d491d79dda2696c40ef7adba819f44dc (Dawn of the New Everything) Book: https://www.amazon.com/gp/product/1572244259/ref=as_li_qf_asin_il_tl?ie=UTF8&tag=reawitrazbla-20&creative=9325&linkCode=as2&creativeASIN=1572244259&linkId=43e714fe7e302d2e7e15abebf8aede17 (Get Out of Your Mind and Into Your Life) Podcast: https://www.itmattersbutitdoesnt.com/42-missing-logic-in-missing-411/ (Ep 42 - Missing Logic in Missing 411) https://www.itmattersbutitdoesnt.com/tag/it-podcast/ (C's Solo Podcast: It Matters But It Doesn't) https://patreon.com/chadhall (C's Patreon) https://www.instagram.com/thevacantroom/ (Lam's Instagram) https://twitter.com/lamnguyencomms (Lam's Twitter)

The guys return again after a false start last year and the mess that was 2020 (and part of 2021.) Will they survive? Will they record again? That's the plan. This week's tangents include: dieting to relieve stress, college radio, the story of why Chad's grandfather believed in UFOS, a strange magazine synchronicity, Dune vs The Foundation, the question of what is Dune really about, mall culture, dealing with PTSD, Cognitive Behavioral Therapy, and why the transporters on Star Trek are murder machines.Mentioned MediaPatreon link: College Dropout Radio #1TV: Star Trek: VoyagerPodcast: Ep 35 - Chaotic Neutral with LamMagazine: FateMovie: DuneTV: FoundationBook: DuneBook: FoundationThe Robot SeriesJasper MallToto- Africa (playing in an empty shopping centre)Book: Born on the Fourth of JulyMovie: Born on the Fourth of JulyBook: Dawn of the New EverythingBook: Get Out of Your Mind and Into Your LifePodcast: Ep 42 - Missing Logic in Missing 411Follow Lam on InstagramSubscribe to C.A.’s Substack Get full access to Graphorrhea at cahall.substack.com/subscribe

The guys return again after a false start last year and the mess that was 2020 (and part of 2021.) Will they survive? Will they record again? That's the plan. This week's tangents include: dieting to relieve stress, college radio, the story of why Chad's grandfather believed in UFOS, a strange magazine synchronicity, Dune vs The Foundation, the question of what is Dune really about, mall culture, dealing with PTSD, Cognitive Behavioral Therapy, and why the transporters on Star Trek are murder machines.Mentioned MediaPatreon link: College Dropout Radio #1TV: Star Trek: VoyagerPodcast: Ep 35 - Chaotic Neutral with LamMagazine: FateMovie: DuneTV: FoundationBook: DuneBook: FoundationThe Robot SeriesJasper MallToto- Africa (playing in an empty shopping centre)Book: Born on the Fourth of JulyMovie: Born on the Fourth of JulyBook: Dawn of the New EverythingBook: Get Out of Your Mind and Into Your LifePodcast: Ep 42 - Missing Logic in Missing 411Follow Lam on InstagramSubscribe to C.A.’s Substack Get full access to It Matters But It Doesn't at itmattersbut.substack.com/subscribe

We are joined by our absolute favourite person, Angela Jones, our very own resident Podcast Pet Vet, to talk all about Atypical Myopathy, what's a myopathy? Why is it not typical? Guess you'll have to listen won't you

This week we delve into the world of myocarditis and cardiogenetics when we review a recent work on deleterious cardiomyopathic genes and a possible role for these in patients who have unfavorable myocarditis outcomes. Are cardiomyopathy genes seen more commonly in pediatric patients with myocarditis who die? Is there a role for genetic testing in the myocarditis patient? How might deleterious genetic defects influence outcomes in myocarditis? We speak with Assistant Professor of Medicine at The Icahn School of Medicine at Mount Sinai, Amy Kontorovich who is the first author of this week's work. DOI: 10.1161/CIRCGEN.121.003426

"I'm so flabbergasted by GNEM in a good way in a really really good way because it has allowed me to become more of my true self" - Tara About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

“I someone tells me that I can't go somewhere then I make sure that I go” -Sabeen About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

For those of you who have been following our journey towards gene therapy for GNE myopathy, here's a detailed conversation with our board chair Ralph Loren talking shop with our CEO Lalé Welsh. About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

“It is hard on my family, but we go on this journey together and I think it helps us. We are stronger together as a family..” -Amy, on her and her 3 siblings all having GNEM About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

"NDF is our big community & strength & force to do all these things. If NDF were not there we would not make it. With NDF I'm sure the cure will be found." -Maya About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

"GNE Myopathy doesn't mean you can't follow your dreams or that your dreams can't change." -Antionette About NDF: Our mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach, and funding critical research focused on treatments and a cure. To learn more about GNE Myopathy visit: https://www.CureGNEM.org

Listen to our season one finale about Central Nuclear Myopathy with Zuzu! To stay updated for when the next season begins or if you want to be a guest on the podcast, follow @Uncovering Disabilities on Instagram!

Cultural appropriation is alive and well in the transformational industry. Dance floor geezers need to chill, and step away from their attachment to the matshavernacularasha spillin’ from their lips.

Myopathy is a common reason for discontinuation of statin medications. The recent SAMSON study examined the nocebo effect and how this may bias patients towards treatment failure. How can clinicians overcome the nocebo effect? This episode is accredited for CPE. Subscribe at CEimpact (https://www.ceimpact.com/pharmacist) and claim your CE today! Reference: Wood F, Howard J, Finegold J, et al. N-of-1 Trial of a Statin, Placebo, or No Treatment to Assess Side Effects. N Engl J Med 2020; 383:2182-2184. DOI: 10.1056/NEJMc2031173 See omnystudio.com/listener for privacy information.

Myopathy is a common reason for discontinuation of statin medications. The recent SAMSON study examined the nocebo effect and how this may bias patients towards treatment failure. How can clinicians overcome the nocebo effect? This episode is accredited for CPE. Subscribe at CEimpact (https://www.ceimpact.com/pharmacist) and claim your CE today! Reference: Wood F, Howard J, Finegold J, et al. N-of-1 Trial of a Statin, Placebo, or No Treatment to Assess Side Effects. N Engl J Med 2020; 383:2182-2184. DOI: 10.1056/NEJMc2031173 See omnystudio.com/listener for privacy information. Learn more about your ad choices. Visit megaphone.fm/adchoices

Myopathy is a common reason for discontinuation of statin medications. The recent SAMSON study examined the nocebo effect and how this may bias patients towards treatment failure. How can clinicians overcome the nocebo effect? This episode is accredited for CPE. Subscribe at CEimpact (https://www.ceimpact.com/pharmacist) and claim your CE today! Reference: Wood F, Howard J, Finegold J, et al. N-of-1 Trial of a Statin, Placebo, or No Treatment to Assess Side Effects. N Engl J Med 2020; 383:2182-2184. DOI: 10.1056/NEJMc2031173 See omnystudio.com/listener for privacy information.

Myopathy is a common reason for discontinuation of statin medications. The recent SAMSON study examined the nocebo effect and how this may bias patients towards treatment failure. How can clinicians overcome the nocebo effect?This episode is accredited for CPE. Subscribe at CEimpact (https://www.ceimpact.com/pharmacist) and claim your CE today!Reference: Wood F, Howard J, Finegold J, et al. N-of-1 Trial of a Statin, Placebo, or No Treatment to Assess Side Effects. N Engl J Med 2020; 383:2182-2184. DOI: 10.1056/NEJMc2031173See omnystudio.com/listener for privacy information.

What is Mitochondrial Myopathy? my·op·a·thy mīˈäpəTHē/ The word “myopathy” means disease of the muscle tissue. As the term implies, mitochondrial myopathy (MM) is a neuromuscular disease caused by damage to the mitochondria. Many patients with mitochondrial disease have a mitochondrial myopathy, either as their sole diagnosis or as an additional, descriptive co-diagnosis as part of their mitochondrial disorder. Mitochondrial myopathy may be present in adults and children, and may occur with or without a genetic mitochondrial disease diagnosis. Further, several clinical trials are currently examining the impact of various therapies or potential treatments for people with mitochondrial myopathy. Join us this month on Friday, November 20th at 12 pm EST with Dr. Bruce Cohen, Director of Pediatric Neurology and then the Director of the NeuroDevelopmental Science Center at Akron Children’s Hospital. Dr. Cohen is well-known and highly respected as an expert author, speaker, clinician and research investigator in mitochondrial disorders. Topics for this important discussion include: What is mitochondrial myopathy? How is it diagnosed? Are there treatments for mitochondrial myopathy? Other management strategies? What are the most common symptoms of mitochondrial myopathy? Who typically is diagnosed with mitochondrial myopathy? About The Speaker Dr. Bruce H. Cohen attended college at Washington University in St. Louis and a BA in chemistry, graduating summa cum laude in 1978. He received his medical degree from the Albert Einstein College of Medicine in Bronx, N.Y. in 1982 and went on to his pediatric residency at the Children’s Hospital of Philadelphia, followed by a residency in neurology at Columbia Presbyterian Medical Center in New York. He then obtained a two-year American Cancer Society fellowship in neuro-oncology at the Children’s Hospital of Philadelphia. In 1989 Dr. Cohen joined the Cleveland Clinic’s department of Neurology, and served as chief of Pediatric Neurology from 1999-2002, with joint appointments in the Clinic’s Taussig Cancer Center, the Eepartment of Neurosurgery and the department of Pediatrics. In 2011, he joined Akron Children’s Hospital in Akron, Ohio, as Director of Pediatric Neurology and then the Director of the NeuroDevelopmental Science Center. He serves in many leadership roles within Akron Children’s Hospital. His specialty interests include adult and pediatric neuro-oncology, mitochondrial medicine, neurofibromatosis, neurometabolic diseases and pediatric neurology. He has served on a number of committees for the Children’s Oncology Group, the American Academy of Neurology (AAN), the Child Neurology Society. He currently serves as chairman of the Coding Subcommittee within the Medical Economics and Management Committee of the AAN, and Secretary-Treasurer of the CNS. His past leadership positions include Chairman of the Pediatric Section of the AAN, Chairman of the Practice Com

ONCE UPON A GENE - EPISODE 052 Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story Adam “DadVocate” Johnson is a dad, diagnosed with Mitochondrial Myopathy. He blogs about his rare disease story, grief and experience on his blog, Owning My Story.  EPISODE HIGHLIGHTS How did you come to be a part of the rare disease community? When I was thinking I was a typical, healthy 35 year old, I got the flu that turned into pneumonia and bronchitis. I wanted to get back into self-care and working out and feeling better after that and I made a good push. I noticed during my workouts that I was struggling to push on. I knew something wasn't quite right. I had my first fall and knew I couldn't ignore what was going on any longer and that began a series of appointments seeing doctors and specialists. No results were populating red flags, but I was extremely fatigued and kept falling. A doctor did a muscle biopsy and that turned up a diagnosis of Mitochondrial Myopathy. Why did it take so long to get the test needed to get diagnosed with Mitochondrial Myopathy? Mitochondrial disease is difficult to diagnose and can take some time. After I was diagnosed, I found a support group and shared my journey. So many others in the support group shared the same experience and even went years before receiving a diagnosis. It's such a rare disease that it's not widely known and doctors don't have experience with it. Have you found a lot of other parents that have a rare disease? I'm still looking, but I've appreciated the support I've received from so many in the rare disease community. I notice a lot of groups of rare disease patients of rare disease kids, but I haven't found a group of parents with rare disease. I'm continuing to branch out and make those connections in this very specific niche. I'd like to talk to others who have had similar experiences. I have pretty specific worries and concerns that I want to connect with others on.  What are some of the moments that help you persevere when you're feeling defeated? My kids help me smile and push ahead. When I first received my diagnosis, my daughter was doing a science project in school on the human body. She wanted to choose mitochondria. I felt bad in the moment, but it was her moment to explore, learn, grieve and share with her classmates. That helped me push through and persevere because she made me feel like I had my own little advocate by my side. People in the rare disease community have been instrumental as well. I listened to the podcast episode with Taylor Kane and I connected with it so much. I'm appreciative of my family and others in the community that help me move forward. What has your family changed since you were diagnosed? It's changed a lot. It was a transition for me stepping back from work. The pandemic is adding an additional layer to things. It's a lot to go through for me and my family as I try to balance being home, being present and helping while taking care of myself. Before the pandemic, I was struggling to take care of myself and now it's an additional stress that's altered things quite a bit. A big thing is that I can't participate in things with the kids in a way that I could before. I found Brian Wallach on Twitter, was scrolling through and saw a tweet that read, "I just watched our girls roll down a hill giggling like crazy. A year ago I was rolling with them. A part of me seethed at the progression of my ALS and what it has taken away. Another smiled like a maniac, giggling as loud as our girls, grateful to be there." I felt that so much and I really connected with that. The paradox of balancing the loss and being present while trying to enjoy a moment is a challenge sometimes.  What lessons have you learned that you can share with others who are feeling alone as a parent with a rare disease diagnosis? I wish I had known when I was diagnosed that I wasn't the only one. I wish I understood that there was more to come after the diagnosis. It's still difficult when I think of things in the past and miss doing things, or miss my job. These things remain true, but I can move forward and find new things to do. If you're newly diagnosed, you're not alone. Any disease or challenge that comes up doesn't define you and it's not the end of you.  LINKS AND RESOURCES MENTIONED Owning My Story Blog https://rarediseasedad.com/owning-my-story-blogs David Kessler and Brené on Grief and Finding Meaning https://brenebrown.com/podcast/david-kessler-and-brene-on-grief-and-finding-meaning/ Dr. Marc Brackett and Brené on "Permission to Feel" https://brenebrown.com/podcast/dr-marc-brackett-and-brene-on-permission-to-feel/ Permission to Feel Book https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847 It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076 Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane Brian Wallach on Twitter https://twitter.com/bsw5020 CONNECT WITH ADAM JOHNSON Twitter  @RareDiseaseDad Instagram  @RareDiseaseDad Email  RareDiseaseDad@gmail.com Website https://rarediseasedad.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

When Karen Fieri was 30 years old, she had trouble healing after a hysterectomy. The pain that followed eventually led to a diagnosis of Mitochondrial Myopathy, a metabolic condition caused by a mutation in mitochondrial DNA. Looking back, it was easy to see that she’d always had some symptoms of the condition and had assumed that many of the things she had experienced were just a normal part of growing up. Karen discusses her experience with doctors, the lifestyle changes she and her family have made to keep them healthy, and how she manages to stay positive while living with a chronic condition. Links and Resources Follow Karen on Instagram: @karenfieri Follow Karen’s family farm on Instagram: @pickofthelitter and on YouTube Read more about Mitochondrial Myopathy on MitoAction.org United Mitochondrial Disease Foundation MitoAction.org Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.27.269647v1?rss=1 Authors: Pelletier, L., Petiot, A., Brocard, J., Giannesini, B., Giovannini, D., Sanchez, C., Travard, L., Chivet, M., Beaufils, M., Kutchukian, C., Bendahan, D., Metzger, D., Franzini Armstrong, C., Romero, N. B., Rendu, J., Jacquemond, V., Faure, j., Marty, I. Abstract: Some mutations in the RYR1 gene lead to congenital myopathies, through reduction in this calcium channel expression level, but the functional whole organism consequences of reduction in RyR1 amount have never been studied. We have developed and characterized a mouse model with inducible muscle specific RYR1 deletion. Recombination in the RYR1 gene resulted in a progressive reduction in the protein amount and was associated with a progressive muscle weakness and atrophy. Calcium fluxes in isolated muscle fibers were accordingly reduced. Alterations in the muscle structure were observed, with fibers atrophy, abnormal mitochondria distribution, membrane remodeling, associated with increase in the expression level of many proteins and inhibition of the autophagy process. This model demonstrates that RyR1 reduction is sufficient to recapitulate most features of Central Core Disease, and accordingly similar alterations were observed in muscle biopsies from Central Core Disease patients, pointing to common pathophysiological mechanisms related to RyR1 reduction. Copy rights belong to original authors. Visit the link for more info

For All Abilities – The Podcast Episode Thirty Four - Isabelle Stahrfisher - Surviving and Thriving with Mitochondrial Myopathy    In this episode, I interview Isabelle Stahrfisher- recent college graduate and graduate school student. On the podcast, Isabelle and I discuss her early years with a serious chronic illness (mitochondrial myopathy), her strengths and interests and her college experience. We also discuss her dreams for future employment.  To connect with Isabelle, please go to her Facebook page (Isabelle Stahrfisher) or e-mail her at i.stahrfisher@tcu.edu.    Go to our website www.forallabilities.com for information on our software that enables employers to support their employees with ADHD, Dyslexia, Learning Differences and Autism. Thanks for listening!  Betsy     Thanks for listening to For All Abilities today!    Share the podcast with your friends, they’ll thank you for it!   Get our newsletter and stay up to date! The newsletter link is on our website www.forallabilities.com   Follow me   Twitter: @betsyfurler   Instagram: @forallabilities   Facebook: @forallabilites   LinkedIn: @BetsyFurler   Website: www.forallabilities.com   Full Transcription from Otter.ai     Betsy Furler  0:05   Welcome to for all abilities, the podcast. This is your host, Betsy Furler. The aim of this podcast is to highlight the amazing things people with ADHD, dyslexia, learning differences and autism are doing to improve our world. Have a listen to for all abilities, the podcast and please subscribe on whatever podcast app you're listening to us on. Hi, everybody, welcome back to for all abilities, the podcast. This podcast is all about talking to people with different types of nerve diversity and other disabilities who are doing great things in this world. And today I have a special guest and her name is Isabel Starr Fisher and I've known about Isabel for almost her whole life. I think her mom and I met when she was three years old. She's around the same age as my son Henry. So I'm really excited that she was willing to be on the podcast today. Welcome, Isabel. Hi.   Isabelle Stahrfisher  1:11   I'm so excited to be here.   Betsy Furler  1:13   Awesome. If you could just introduce yourself and tell my audience a little bit about what you're doing currently.   Isabelle Stahrfisher  1:19   Okay, um, well, I am a recent 2020 graduate, I graduated with my degree in communication and my minor in creative writing. And I have a physical disability, mitochondrial disease. I'm a ambulatory wheelchair user and I have chronic illness and all that extra good stuff. So, in college, I focused a lot of my research in my writing about people with disabilities, and I'm about to start my graduate program with a focus in telling people disability stories. Wow, that's awesome.   Betsy Furler  2:00   Well, I'm so excited you're here. And I would love for you to tell my audience about what you were like as a little girl. I think you were diagnosed fairly young in life. So you may not remember that, but kind of what were you like, what was school like in those early years for you?   Isabelle Stahrfisher  2:17   So when I was little, like you said, I was diagnosed really young, so I really don't remember the pre diagnosis period. But my kind of story is actually kind of weird because I was born really sick, which then helps me get a diagnosis, which then helped my siblings get a diagnosis, and then we all got treatment. We kind of stabilized. So yes, we had to do feeding pumps at night and we had to do some different treatments, but we're very active. I did competitive dance for several years. And we did bowling. We are homeschool to just try to limit interaction with others when it came to getting second stuff, but other than that, we lived pretty normal lives. And all three of us had it. So it didn't really feel any different to me. And so I just remember the first time I went to MBA camp, and that's kind of the first time I really started realizing that, like, yes, my whole family's weird, and this is kind of my normal, but also it's other people's normal. They have slightly different versions. And I remember being seven years old and my parents sitting down at the table at Camp like okay, this is how you say, mitochondrial myopathy, and I'm just struggling through that word. Um, but yeah, that was really the first time I was kind of realized, I guess that other people have disabilities that are similar but also not similar. And we all kind of experience it in different ways. And that was really exciting for me.   Betsy Furler  4:04   Yeah campus so wonderful. Henry loved going to camp as well. He left the camp. And but it is amazing that a seven year old can even like know the word mitochondrial, because most adults don't even know that word.   Isabelle Stahrfisher  4:21   So yeah.   But my mom will talk about it. And I was generally just like decided the three of us also the oldest. So like, I had the responsibility of being the oldest and then I didn't have a lot of energy to do anything else. So we'll talk about stories, especially my sister was always getting into trouble and stuff. And I'm like, Well, where's my trouble stories and my mom's like, you're spending all your energy trying to make sure that your sister didn't kill herself doing something stupid. So, um, but yeah, that was kind of my childhood. And I really took to Reading and things that I could do on my downtime that preserved my energy for other things like dance that I really cared about.   Betsy Furler  5:09   Well, and I think if I remember correctly, you had a lot of hospitalizations when you were super little, but then not so many. When you were probably the ages that you remember.   Isabelle Stahrfisher  5:20   Yeah. I had a few hospitalizations, for surgeries. I remember the surgeries more than I remember being sick. And several ER visits. But I think in my memory, my siblings had more hospital visits for being sick and like being admitted, then I do in my, my memory period. Yeah, I know that several early on.   Betsy Furler  5:45   So then when you once you graduated from high school, and as you said, you were homeschooled. And so when you went off to college, that was really your first time to be in a, I guess organized school in a traditional school environment. I guess I should call it   Isabelle Stahrfisher  6:00   I'm kind of I did co ops. And so I had, I took classes at different places. And they were generally taught by college professors were also parents. So it was kind of like a school system. I went to university model school my senior year, and took a couple math classes. They're so similar. But yeah, college is the first time that I had, like, a strict system, which was really different. And then also being away from my family for the first time was really different. And then I had a whole bunch of health issues that first year that made it really difficult. And so that it's really interesting to me that like that first year, I think of this like the first year, or I'm trying to figure out independence, but it wasn't until I transferred back home because of my health issues, that I started learning what true independence was and that was when I was having to Be more dependent on my family than I ever wanted to be making my own decisions while at home. And I right now, even though my health issues continue to kind of get worse, I feel the most independent that I've ever done. I've got really strict boundaries for the most part with my family when they helped me and like, if I'm in my wheelchair, I need help being pushed like, you can't push in places that I don't want to go. That's not okay. And having those discussions about boundaries is something that I've learned is really important in maintaining my independence.   Betsy Furler  7:37   Yeah, that is that's really important, especially with sibling relationships. That's a really, that's so important. So when did you did you have accommodations when you went off to college? Did they provide accommodations and what kind of accommodations Did you need academically or living accommodation, you know, accommodations to your living question.   Isabelle Stahrfisher  8:01   So I didn't become a wheelchair user until 2017. So my first year, I got accommodations, but they were, I was allowed to use a computer for note taking. I think if I remember correctly, I had professors who wouldn't let me do that.   And then I also was allowed.   extended time, maybe I just know I had a whole list of accommodations. And then several professors who wouldn't give me the accommodations   Unknown Speaker  8:33   as well.   Isabelle Stahrfisher  8:34   Yeah, super frustrating I had, or at least not, it wasn't that they wouldn't give me the accommodations, they just would like, Okay, well, if you're going to use a computer, then you have to sit here and it has to be in the front of the room, or it has to be in the back of the room and it has to do this and you have to do that and I really don't trust you and I really don't trust that you're not going to be doing other things which is really frustrating. As I was trying to get all this stuff figured out so I'm trying to learn when and how I was going to take notes really difficult process and really frustrating because I didn't have the energy to fight them. And I didn't want to fight them I was this freshmen kid was like, I don't know how to fight my professor for accommodations when they're really not inclined to give it to me and the school didn't have the, the system to really fight for me either. So it was just a really frustrating process that I kind of learned how to accommodate for myself. Whenever   Betsy Furler  9:41   that's when it's I think there is often a problem with accommodations is even if a school will say like, here's your list of accommodations frequently, it's too many. You know, like it's a bunch of accommodations that they just kind of generically Give to everyone with the similar disability. And then when professors put all sorts of criteria around your accommodations, it's kind of because it kind of defeats the purpose, you know, because then it makes it actually it's actually a, it impedes your ability to use your accommodations, if you know that they're putting all this stipulation around there. So that's something I worry about both in education and in the workforce, you know, in an employment setting, and when someone has accommodations, so would you I know you then transferred, so when you transferred back home, how was that different?   Isabelle Stahrfisher  10:37   Um, well, it was different in a couple different ways. When I transferred back home, I actually ended up going to the school that my mom works at, and that kind of gave me the ability like if I was able to drive that my mom is able to drive me to school, but for the accommodation system, I really didn't have much luck. And the accommodations at my new school even though it was bigger and should have had more resources to help me, which actually has been a big conversation at the university recently about how poorly their accommodations go. And I had a lot of issues with my pediatric nurse who was in charge of getting all of the paperwork for the accommodations to my new school that she had sent to my previous school. And she would, she kept refusing to send it and it was really frustrating. And then the schools like, well, if you don't have paperwork, then I'm not really sure that you have to have these accommodations. And then when I became a wheelchair user, I was invited to go to a women's leadership retreat and when I signed up for the Women's Leadership Retreat, I literally had just gotten my wheelchair so I was like, He is a wheelchair user, I really want to go to this, just so you know, I'm a wheelchair user, so please, but you know, this retreats going to be accessible or not because I can't be on certain types of ground because my smart drive won't work on that. And I got an email from the accommodations department's just chewing me out for not saying that I have a wheelchair and I'm like, but I don't live on campus. And all the classrooms should be accessible. So what's the problem? I was so upset. So after that, I just kind of stopped talking to them. I was like, I'm just gonna deal with this one on one with my professors, which luckily I was able to do for the most part, it was just kind of talked to the professors about what I needed, and just kind of had to figure things out myself.   Betsy Furler  12:56   Yeah, that's, I think that's what ends up happening to a lot of People as you know, when it becomes such a so difficult even to get the accommodations, and I know, with my son Henry, who has a similar, you know, kind of a similar story. Mm hmm.   Unknown Speaker  13:14   A lot of his accommodations are   Unknown Speaker  13:18   medical. So it's   Betsy Furler  13:20   your extended time and it's like, oh, he has a seizure. Well, they would give him extra time anyway, right. Sometimes the paperwork doesn't if it's so hard to get it doesn't it's not helping. It's not worth it. What about where have you worked in the past? And what is it been like at work?   Isabelle Stahrfisher  13:37   So I worked a couple different things. I did some student teaching for high school in a drama department, which really wasn't any different. I kind of worked under my mom. So she was able to give me all the accommodations like Oh, do you can't climb the stairs today? Well, everyone's moving outside, and so I didn't have to do that. But my first real job is actually at my university, I worked in the advancement office, which is just kind of looking up who's passed away. So we stopped some sending the mail. And that process was interesting. I remember going to the interview. And this was before I got my wheelchair and I'm just kind of using mobility devices on and off. And I was like, I'm not using a mobility device. I'm not giving them any reason not to hire me. I'm not going to talk about potentially missing work. And I was so thankful that when I got there, I actually found out that my boss has or had an autoimmune disease. I no longer work there, but she had an autoimmune disease. And then her boss actually was a wheelchair user. So when I became a wheelchair user, they were all very and I got my wheelchair. They were Very nice. They were very understanding. I was calling my boss and like, Hey, I'm having a flare up. I just can't make it to work today. And she was really accommodating, which was incredible. It was kind of one of the first times that I had ever experienced that, especially since when I've been doing research. And I've been listening to all of my friends on my Facebook groups, and we're struggling with jobs, not accommodating them or finding other reasons to hire them. And having this job that was just like, okay, you can't come in this week. That's fine.   Thanks for letting me know. And just please take care of yourself. So you can come back when you can. And that was incredible.   Betsy Furler  15:43   Yeah, like a dream come true.   Isabelle Stahrfisher  15:46   Yeah. It was, honestly a terrible job like, paid really poorly. But the people were amazing, which is why I stayed there for so long.   And then I moved over to the Writing Center as a tutor, which was a lot less Understanding was the only disabled person that I knew of there. And it was I was really nervous about ever calling in sick. So I tried to limit that as much as possible on the way I approached, it was very different. I'm like, okay, here's these, you know, when you're constantly sick, you pick trigger words like throwing up, fever, you know, something that makes people not want you there, instead of having a flare up. And it it's a whole different process. And I loved my job there it was, was one of those situations where the work was better, but that experience was a lot harder. And that I'm about to start my like real big kid job as a graduate teaching assistant. I'll be teaching the basic communication course. And we are Supposedly allowed. I'm not sure how this is going to work, but we're supposedly allowed not to attend or not to be face to face for our classes, maybe passively. And that's really, that's giving me more anxiety than anything else this summer is just thinking about what is going to happen at school, when I try to go back in like, what if I can't go back? Because that's really scary. And just because, you know, there's these things that people do. That kind of just puts you in a corner of like, Oh, you can't be in person in class, and they'll treat you different. They say they don't, but you feel it because they'll be short with you or they're like, well, there's no excuse for that behavior. There's no excuse and like, but if I was in class, I couldn't do that. And so I actually a friend of mine, who's also has a disability, who's in the graduate program who texted me And she's like, So technically, we have the right to not come to the face to face class and just zoom in. Do you think that that's going to be okay? And I was like, honestly, I don't think I don't think it's going to be any different than it was before. If you don't show up to class in the face to face, if that's what everyone's doing, then people are going to, professors are not going to understand they're going to be upset because they don't like the accommodations anyway, so, and that depends on professor, but for the most part, especially people who aren't willing to kind of think about their initial reaction. That's pretty much what we face which is really disheartening. But I like to think of it as the idea that, like, I have a friend who also has a disability and the graduate program and we're both intending to go into research. We're both intending to be provided. So that once we can get past this we can then become professors are more understanding.   Betsy Furler  19:05   Yeah, yeah. And chain kind of change the system. Wait, wait, how has the COVID stay at home order affected you?   Isabelle Stahrfisher  19:14   Um, at first I was kind of laughing at it because I'm like, oh I don't go anywhere anyway because I just too tired to go out or and you know, I'm chronically ill introvert I don't need to go out in the world but it's I go back and forth on like how I personally reacting. I've helped more issues with how the world is reacting especially since I live in DFW and Dallas is gotten really bad and I've got all these people on Facebook who are just basically saying people who died from COVID are pretty much going to die if they got a cold anyway so they don't really matter. And I'm like, I've had friends and family pass away from The virus and it's real scary thing. I have friends. It's actually just talking to them yesterday about when are we going to choose to go to the ER or not? Because I'm like, is this pain? It's unimaginable pain, but is it worth putting ourselves at risk? To COVID? Because the pain might be really bad, but is it life threatening enough to outweigh the chance of getting COVID and subjecting our families to that, especially since several of us have siblings who also have the virus? We live with elderly people?   Betsy Furler  20:39   Yeah, we have the same conundrum with Henry to where we are. We don't know. You know, it's like How bad is it have to get like just like you were saying it's, it's a hard that's a really hard thing. And I feel the same way where I, you know, hear people saying, Oh, I'm not gonna wear a mask because it doesn't do anything for me and it's like, but it does something for others. People in the world. And this has really shown I think everyone's true colors. What they're really like what you know, and what they really care about. And it's been a little disheartening at times.   Isabelle Stahrfisher  21:15   Yeah, well, and it's, I keep thinking like keeps me going is honestly the thought that I'm a part of something called the disability issues committee or I can't remember the last word. Anyway, it's part of the national Communication Association Conference. And there's a whole bunch of researchers who either have disabilities who are doing research about disability studies or are doing research for one reason or another. Most everybody has a disability and that's why they do it. And I just keep thinking, there's going to be a lot of essays, there's going to be a lot of research that is going to come out of this, which we can address the overt ableism in our world. Hopefully that will get some kind of change. But we just have to be able to get to that point.   Betsy Furler  22:08   Yeah, that's I'm so excited that you're doing that. And then your masters and everything, I think it's going to be great. And I think I think the tide is turning and I think this has been a really important time the lat really the last year, but even through COVID it's like I see more progress than I've ever seen before. So I'm glad you're joining the fight for everyone else too. And it's been great having you on the podcast today. I know some of my listeners are going to want to reach out and connect with you How is the best way for them to connect.   Isabelle Stahrfisher  22:42   The best way to connect would probably be through my   facebook or my TCU email, which is just I period star Fisher which is spelled us HR as I sh er@tcu.edu  (i.stahrfisher@tcu.edu)  I'm always welcome to taking emails from people I love to help. It may just take me a little bit to get back to people. But, and then my email or my Facebook, you can find me just pretty much looking at my last name. It's pretty unique that way.   Betsy Furler  23:19   Awesome. Yeah. And I'll put all that in the show notes. So, thank you again so much for being here. You were a great guest. And I know that a lot of my listeners are gonna gain a lot of knowledge from you.   Isabelle Stahrfisher  23:31   Okay, thank you so much for having me. It was really exciting.   Betsy Furler  23:35   Yeah, and listeners, thank you so much for tuning in, please rate review, subscribe to the podcast on whatever podcast platform you're listening to this on. And if you want to know more about my consulting services, as well as my software that helps provide accommodations for employees with disabilities. You can find that at WWW dot for all abilities calm thanks. So much for listening to the for all abilities podcast. This is Betsy Furler, your host and I really appreciate your time listening to the podcast. And please subscribe on any podcast app that you're listening to us on. If you'd like to know more about what we do in our software that helps employer support their employees with ADHD dyslexia, learning differences in autism, please go to www dot for all abilities calm. You can also follow us on Instagram. And you can follow me on LinkedIn at Betsy Furler f isn't Frank, you are le AR Have a great day and we will see you soon.

Talk to a Dr. Berg Keto Consultant today and get the help you need on your journey (free consultation). Call 1-540-299-1556 with your questions about Keto, Intermittent Fasting, or the use of Dr. Berg products. Consultants are available Monday through Friday from 8 AM to 10 PM EST. Saturday & Sunday from 9 AM to 6 PM EST. USA Only. Get Dr. Berg's Veggie Solution today! • Flavored (Sweetened) - https://shop.drberg.com/veggie-solution-flavored-sweetened?utm_source=Podcast&utm_medium=AGM(Anchor) • Plain (Unflavored) - https://shop.drberg.com/veggie-solution-plain?utm_source=Podcast&utm_medium=AGM(Anchor) Take Dr. Berg's Free Keto Mini-Course! In this podcast, Dr. Berg talks about a heart attack without a blocked artery. It is possible to have a heart attack without having an obstruction to one of your arteries and that condition is called Myocardial Infarction with Non-Obstructive Coronary Arteries or MINOCA. Two things that happen: 1. Heart Muscle Cramps 2. Artery Spasm – Obstructing the blood flow to the heart muscle itself causing the heart attack. Vitamin E Deficiency 1. The need for oxygen in the muscle tissue especially in the heart - goes up significantly. 2. Necrosis of the heart 3. Muscle Fibers 4. Neuromuscular degeneration 5. Myopathy – a disease of the heart muscle. In certain studies, vitamin E deficiencies in the blood are significantly higher in angina cases. Vitamin E is an antioxidant and is carried by LDL to the blood vessel to provide healing to any oxidation that is happening in the artery. Dr. Eric Berg DC Bio: Dr. Berg, 51 years of age is a chiropractor who specializes in weight loss through nutritional & natural methods. His private practice is located in Alexandria, Virginia. His clients include senior officials in the U.S. government & the Justice Department, ambassadors, medical doctors, high-level executives of prominent corporations, scientists, engineers, professors, and other clients from all walks of life. He is the author of The 7 Principles of Fat Burning. FACEBOOK: fb.me/DrEricBerg?utm_source=Podcast&utm_medium=Anchor TWITTER: http://twitter.com/DrBergDC?utm_source=Podcast&utm_medium=Post&utm_campaign=Daily%20Post YOUTUBE: http://www.youtube.com/user/drericberg123?utm_source=Podcast&utm_medium=Anchor DR. BERG'S SHOP: https://shop.drberg.com/?utm_source=Podcast&utm_medium=Anchor MESSENGER: https://www.messenger.com/t/drericberg?utm_source=Podcast&utm_medium=Anchor DR. BERG'S VIDEO BLOG: https://www.drberg.com/blog?utm_source=Podcast&utm_medium=Anchor

Generalized weakness is a common complaint. Much of the time, we as neurologists don’t even see these patients in the hospital or the clinic. But more often than not, “generalized” weakness may be the only way a patient describes difficulty brushing their hair or climbing stairs. In these situations, it’s not exactly generalized weakness. It’s something else. This week on BrainWaves, we review the major patterns of weakness that characterize the most common muscle disorders. With a quick review of EMG findings. Enjoy! Produced by James E. Siegler. Music courtesy of Jahzzar, Kevin McLeod, Patches, and Montplaisir. Unless otherwise mentioned in the podcast, no competing financial interests exist in the content of this episode. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision making. Be sure to follow us on Twitter @brainwavesaudio for the latest updates to the podcast. REFERENCES Suresh E and Wimalaratna S. Proximal myopathy: diagnostic approach and initial management. Postgraduate medical journal. 2013;89:470-7. Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Muller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R and Lochmuller H. Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis. 2013;8:26. Fayssoil A, Ogna A, Chaffaut C, Chevret S, Guimaraes-Costa R, Leturcq F, Wahbi K, Prigent H, Lofaso F, Nardi O, Clair B, Behin A, Stojkovic T, Laforet P, Orlikowski D and Annane D. Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D. PloS one. 2016;11:e0153095. Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Diaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmuller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K and Jain COSC. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2016;2:e89. Clark KEN and Isenberg DA. A review of inflammatory idiopathic myopathy focusing on polymyositis. European journal of neurology : the official journal of the European Federation of Neurological Societies. 2018;25:13-23. Wicklund MP. The Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn). 2019;25:1599-1618. Preston DC and Shapiro BE. Electromyography and neuromuscular disorders: clinical-electrophysiologic correlations. 3rd ed. London; New York: Elsevier Saunders; 2013. “rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies.” Clinicaltrials.gov. Retrieved from https://clinicaltrials.gov/ct2/show/NCT02710500?cond=dysferlinopathy&draw=2&rank=1 on 22 December 2019. For great video examples of EMG findings in nerve and muscle disease, check out KImura & Kohara's YouTube recordings: https://www.youtube.com/watch?v=6-3PP_S-Q8I&list=PLCC_NQWOABCY18PEzlGELGOR_-IDNaDQ_

Muscle wasting in intensive care is the thief of future health. Hugh Montgomery shows us what a big issue this is and what can be done to mitigate the problem.

MYOPATHY IS BOTH A MEDICAL CONDITION AND A LEADERSHIP FAILURE. DON’T BE MYOPIC IF YOU CAN HELP IT. Fires in Australia, the threat of war looming in the Middle East, a Tsunami off the coast of... Leadership Podcast by J Loren Norris: Daily video lessons for managers, employees and students​promoting faith, family and freedom. #leadingleaderspodcast​

MYOPATHY IS BOTH A MEDICAL CONDITION AND A LEADERSHIP FAILURE. DON'T BE MYOPIC IF YOU CAN HELP IT. Fires in Australia, the threat of war looming in the Middle East, a Tsunami off the coast of Indonesia, major corrections in the market... add to that payroll, overhead, monthly expenses, P&L statements and tax reports and soon your head is swimming. Then along comes the executive committee or your coach who says “you have to focus”. FOCUS ON WHAT!?!? In reality we all suffer from the distractions of life. Not everyone loses minutes or hours everyday to cat videos or trolling social media but everyone gets caught up in the affairs of life in their periphery. Those are the tiny details which can detail the greatest of intentions. We need to focus on the matters at hand for sure. HOWEVER... I also believe their is a risk for leaders which disguised itself as FOCUS and it is not. It's called myopathy. The ability to see (literally or figuratively) only a very small portion of what's right in front of us. When we lose sight of the world around us we can become selfish, ruthless, and detrimental to the long range goals of the organization. Successful leaders know how to both “keep their eye on the ball” and “look at the big picture”. They know when to shift their focus and when to delegate. Guard your attention and your focus to guard against myopic thinking. ​Watch the video #leadingleaderspodcast 1-6-20. LEADING LEADERS PODCAST with J Loren Norris providing daily leadership video lessons promoting faith, family and freedom for Tell It Like It Is TV . #leadingleaderspodcast #storypower Blog & Online Courses - www.jlorennorris.com Copyright 2019 Tell It Like It Is, Inc. All rights reserved. --- Send in a voice message: https://anchor.fm/j-loren-norris/message

Welcome To The MedFlashGo Podcast. This Is Your Daily 4 Minutes Or Less Rapid Review For USMLE, COMLEX, And Shelf Exams. We release a new episode every weekday! In this question of the day, Sean discusses lipid lower agents and identifies which medications are associated with myopathy. These questions are powered by MedFlashGo The First Voice-based interactive medical question bank currently available on Alexa. This tool allows medical students to study medical topics and be interactively tested without the use of a screen. You can study on your couch, in your car, and on the move without the use of a screen. To get access to your 50 free questions go on to your Alexa application and search medflashgo In the skills section. To learn more details go to medflashgo.com and check out our frequently asked questions section. Please know that these questions were creatively designed by medical students and physicians for the purpose of education and do not replace health information given from your health professionals. We have tried our best to make sure the information is accurate please, so please let us know if you find any errors and we will be sure to correct them. --- Send in a voice message: https://anchor.fm/medflashgo/message

Statins are one of the most dispensed medications in the World to help lowering bad cholesterol in the system. However, this group of medication also attracts a lot of good and bad attention from the media. In this episode, Nhan and Ishaan will be discussing about this interesting class of medication and debunk some myths.If you like this episode, be sure to subscribe and leave us a review on iTunes!!https://podcasts.apple.com/au/podcast/breaking-the-capsule/id1479407995Follow us on Facebook and Instagram:https://www.facebook.com/Breaking-the-Capsule-110257606996674/https://www.instagram.com/breakthecap/?hl=enEmail us at breakingthecapsule@gmail.com with any question

Greta is a typical 11-year-old 6th grader who wants to go to school dances and hang out at her friends’ homes, but what is different for Greta is that these experiences always include a parent or nurse to accompany her. Greta lives with Nemaline Myopathy, cruises in a power chair, breathes via a tracheostomy, and needs suction to ensure her airway isn’t blocked. Greta’s parents, Lyn and Kate, were vulnerable and explored with us some thoughts on secondary grief - the struggle that comes with witnessing grief over limitations, barriers, or independence. While they don’t lament on this grief, they keep a “make it work” attitude to navigate life and even give listeners a few tips on how they have built resilience and independence into life with a medically-fragile pre-teen. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

Steph Carmen battle congenital myopathy Steph's Pages www.instagram.com/stephcarmenc Our Pages www.facebook.com/1aweekchallenge www.instagram.com/_1aweek www.1aweekchallenge@gmail.com *Trigger Warning* If this episode in anyway made you feel like self harming, or you need in general, please contact one of the numbers provided below. National Suicide Prevention Lifeline: 1-800-273-8255 Depression and Bipolar Support Alliance (DBSA): 1-800-826-3632 SAMHSA Treatment Locator: 800-662-4357

You can find more of our podcasts on our website: http://www.mdedge.com/podcasts This week in cardiology news: SCAI releases first definition of cardiogenic shock CABANA: Heart failure patients got biggest bang from AFib ablation Elderly concussion patients who used statins had lower dementia risk BMI in male teens predicts cardiomyopathy risk You can email the show at podcasts@mdedge.com and you can interact with us on Twitter at @MDedgeCardio. 

In this podcast Richard Piercy discusses atypical myopathy and James Brown discusses umbilical resections.   Atypical myopathy-associated hypoglycin A toxin remains in Sycamore seedlings despite mowing, herbicidal spraying or storage in hay and silage, González-Medina, F. Montesso, Y.-M. Chang, C. Hyde and R.J. Piercy https://onlinelibrary.wiley.com/doi/10.1111/evj.13070   Short-term outcome and risk factors for post-operative complications following umbilical resection in 82 foals (2004-2016), Reig Codina, S.R. Werre, J.A. Brown https://onlinelibrary.wiley.com/doi/abs/10.1111/evj.13021

Nobody is getting any younger. Which is too bad. Muscle cramping...fatigue...stiffness... you'll be dealing with it more and more. 'It's probably nothing,' you tell yourself. But what if it's not? Every once in a while, you might come across a case of myotonia. And you won't want to miss it. This week on BrainWaves, Dr. Noah Levinson provides a brief overview to myotonia and the conditions that are associated with it. IF YOU'RE TAKING YOUR NEUROLOGY BOARDS, and not sure how to prepare, check out the 2019 Penn Neurology Board Review Course here [or here: https://upenn.cloud-cme.com/default.aspx?P=5&EID=54399]. BrainWaves' listeners get $150 off their enrollment fee using the promo code 'WAVES2019'. Produced by James E. Siegler. Music courtesy of Yshwa, Steve Combs, MMFFF, and Scott Holmes. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision making. Be sure to follow us on Twitter @brainwavesaudio for the latest updates to the podcast. REFERENCES Miller TM. Differential diagnosis of myotonic disorders. Muscle Nerve. 2008;37:293-9. Sansone VA. The Dystrophic and Nondystrophic Myotonias. Continuum (Minneap Minn). 2016;22:1889-1915. Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM and consortium O. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. The Lancet Neurology. 2018;17:671-680. Thornton CA, Wang E and Carrell EM. Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev. 2017;44:135-140.

Premium Lecture Available with an AnethesiaExam.com Membership or Premium Podcast Membership References Hypertrophic Cardiomyopathy: A Review Hensley, Nadia, MD; Dietrich, Jennifer, MD; Nyhan, Daniel, MD; Mitter, Nanhi, MD; Yee, May-Sann, MD; Brady, MaryBeth, MDAnesthesia & Analgesia: March 2015 - Volume 120 - Issue 3 - p 554–569 doi: 10.1213/ANE.0000000000000538   Cardiovascular Anesthesiology: Review Article J Clin Diagn Res. 2013 Jun; 7(6): 1174–1176. Published online 2013 Jun 1. doi: 10.7860/JCDR/2013/5390.3069 PMCID: PMC3708228 PMID: 23905133 Dilated Cardiomyopathy: An Anaesthetic Challenge Haramritpal Kaur,1 Ranjana Khetarpal,2 and Shobha Aggarwal3

Polysaccharide Storage Myopathy or PSSM is a genetic condition that causes issues in the muscles of impacted horses of a variety of breeds. Learn how two university horse program professionals managed the condition in their own horses.For More Horse Information: extensionhorses.org

Jori and Dan have a very unique son named Luxton.  He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5. Luxton however is the only one in the world that has two mutated genes. Autosomal Recessive Centronuclear Myopathy Type 5: The Only One Something Was Wrong Luxton’s doctors knew there was something wrong right off the bat.  However, no one really knew what it was. “He couldn’t breathe on his own, they called a code blue.” Jori recalls.   She continues by saying, “ They had a laundry list of things they thought it could be.  His MRI showed some brain bleeds. They thought he had Gyneschemic brain injuries because he did have a rough delivery so he was restricted in utero.” “It’s Terminal, Whatever he Has” At three weeks old his oxygen dropped to the 20’s and Jori and Dan were unable to find a pulse.  They were admitted for three months on and off and the doctors were still not able to find out what was wrong.  “It’s terminal whatever he has.  So don’t expect him to look at you, don’t expect him to laugh.  He’s never going to play with toys. He’s never going to walk, he;s never going to crawl, he’s never going to sit up, he’s going to be a vegetable.”  Official Diagnosis at 16 Months After 16 long months, they received a test called a microarray.  The test showed small deletion on chromosome two. “Well we got the diagnosis and I remember the lady walking in the room.  She was like “so we found something this is a gene it affects but we have no other records of this being found”  “The other two records that are very similar is both kids are trach vented and doctors said that they don’t have a very good prognosis” I was devastated” Jori mentioned.   “Just be his Mom” In the first couple months of Luxton’s life Jori was struggling, she was feeling sad, guilty, jealous and like she couldn’t do it.  Dan put things in perspective for her by saying “Jori stop listening to the doctors, stop looking at everything they are telling you is wrong and just be his mom.” “I stopped looking at what he’s never going to do and what everyone's labeling my child as and once I stopped doing that,  was able to pay attention to what he can do… and then I started getting joy out of that.” He’s Proving Doctors Wrong “He does things they told us he would never even do..he rolls and now he is lifting his head up off the ground...he does things that other moms don’t get to experience, we just have a very special bond.” said Jori. Dan loves Luxton's happy personality, he said, “I love coming home and seeing him dance around me and get excited.  It’s really wonderful having him be part of our family. He just seems to have this determination to never really give up.”

Professional triathlete Richard Wygard is our special interview guest on Episode 1472 of The Livin' La Vida Low-Carb Show. Richard Wygand is the president of The go Luke Wygand Foundation and former professional triathlete. In 2004 Richard lost 100 pounds, quit smoking, and became a professional triathlete. After racing for 12 years Richard became a Dad in 2016 after winning his first full distance triathlon. Richard's son was born with an unexpected muscle condition called nemaline myopathy. Richard retired from racing Ironman to dedicate himself to advocating for his son's cause. So far Richard has done a 24 hours paddle-boarding challenge and is about to do a rowing marathon to raise awareness. Richard recently found a way to carry Luke's breathing machine and they started to run together. Listen in today as Jimmy and Richard discuss: Richards's journey from low-fat vegan to keto Competing in and training for Ironman Racing on Keto His son's rare muscle condition How he changed his son's diet and what that has meant for him The role of fitness Stress and depression and their affects on your health Adjusting to life with a disability His YouTube documentary A dad on a mission- From Ironman to Fatherhood The go Luke Wygand Foundation and more  

Message from guest pastor Norm DavisMinor technical difficulties this morning. Audio recording system failed. This sermon brought to you by the iPhone 6 microphone :)

Statin Intolerance Because of Myalgia, Myositis, Myopathy, or Myonecrosis Can in Most Cases be Safely Resolved by Vitamin D Supplementation. N Am J Med Sci. 2015 Mar;7(3):86-93

Medicine Grand Rounds April 6, 2018 Chester V. Oddis MD Professor of Medicine Associate Director, Rheumatology Fellowship Training Program University of Pittsburgh School of Medicine Director, Myositis Center University of Pittsburgh Medical Center

This week's clinical case features Dr. Megha Dhamne, a neuromuscular fellow from the Cleveland Clinic. Two weeks ago, she reviewed some of the antibodies associated with autoimmune myositis. But what happens when you suspect an autoimmune myositis, and antibody testing is negative? Produced by James E. Siegler. Music by Chris Zabriski, The New Valleys, and Hyson. Voiceover by Tuyche Smrstik. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision making. REFERENCES Suresh E and Wimalaratna S. Proximal myopathy: diagnostic approach and initial management. Postgraduate medical journal. 2013;89:470-7. Mammen A. Autoimmune muscle disease. Handbook of clinical neurology. 2016;133:467-84. Hill CL, Zhang Y, Sigurgeirsson B, Pukkala E, Mellemkjaer L, Airio A, Evans SR and Felson DT. Frequency of specific cancer types in dermatomyositis and polymyositis: a population-based study. Lancet. 2001;357:96-100. Choy EH and Isenberg DA. Treatment of dermatomyositis and polymyositis. Rheumatology (Oxford). 2002;41:7-13. Gordon PA, Winer JB, Hoogendijk JE and Choy EH. Immunosuppressant and immunomodulatory treatment for dermatomyositis and polymyositis. The Cochrane database of systematic reviews. 2012:CD003643.

In this edition of the EVJ podcast, Stephanie Valberg discusses their paper, entitled Clinical and histopathological features of myofibrillar myopathy in Warmblood horses’ and Siv Hanche-Olsen discusses their paper ‘Long-term follow-up of Norwegian horses affected with acquired equine polyneuropathy’.  

In this edition David Howes discusses small intestinal resection and anastomosis in a late term broodmare and Richard Coomer discusses small intestinal biopsy and resection in standing sedated horses. http://onlinelibrary.wiley.com/doi/10.1111/eve.12711/full http://onlinelibrary.wiley.com/doi/10.1111/eve.12582/full

In this edition of the EVJ podcast, Chris Riggs discusses their paper, entitled ' Improved radiological diagnosis of palmar osteochondral disease in the Thoroughbred racehorse’ and Jenny Bauquier discusses their paper ' Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses’.

This week the Amy Stevenson is joined by Helen Christian, Vet from The Barn Equine Surgery. Helen explains the dangers of the Horse Killer Seed: Atypical Myopathy. Jade bravely tells us her story of losing her horse to Atypical Myopathy and Helen explains how to prevent it effecting our horses and the signs your horse has eaten a seed. Also on #HorseHour Amy is joined by Vicki Alford from the Blue Cross, discussing rescuing abandoned horses, rehoming horses and how you can help. Join in the conversation on Twitter to share, advise and advertise just #HorseHour, Mondays 8pm GMT/3pm EST. Follow us @HorseHour @AmyStevenson1 The Barn Equine Surgery: @barnequine www.barnequine.co.uk/ www.facebook.com/barnequine/ @barnequine The Blue Cross: @The_Blue_Cross www.bluecross.org.uk Listen to Exclusive Episodes of HorseHour, Subscribe to ACAST+ to hear interviews with Professionals such as Heather Bennett, Jock Paget, Backstage at Badminton Horse Trials, Tips with The Bit Expert, Advice on Equestrian Surfaces with AndrewsBowen the Olympic 2012 Supplier, PLUS hear every episode of HorseHour BEFORE everyone else! See acast.com/privacy for privacy and opt-out information.

Join MitoAction and Dr. Bruch Cohen as we discuss Mitochondrial myopathy.

Inflammatory myopathy. Lesson of the Week interviews from May 2015.

Join us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT, information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial.

An interview with Dr. Andrew Mammen about A novel autoantibody recognizing 200 and 100 kDa proteins is associated with an immune-mediated necrotizing myopathy, Arthritis Rheum. 2010 May 23.

An interview with Dr. Andrew Mammen about A novel autoantibody recognizing 200 and 100 kDa proteins is associated with an immune-mediated necrotizing myopathy, Arthritis Rheum. 2010 May 23.

An interview with Mark A. Tarnopolsky, MD, PhD, about Metabolic myopathies: Update 2009. J Clin Neuromusc Disease 2009;10:97-121. Interviewed by Ted Burns, MD.

An interview with Mark A. Tarnopolsky, MD, PhD, about Metabolic myopathies: Update 2009. J Clin Neuromusc Disease 2009;10:97-121. Interviewed by Ted Burns, MD.

A Practical Approach to the Metabolic Myopathies; Diagnosis and treatment: Glycogen Storage Myopathy by Mark A. Tarnopolsky, MD, PhD

www.DogCastRadio.com Cardio Myopathy in dogs - interview Toy dog walking group - interview News Fiction

www.DogCastRadio.com Cardio Myopathy in dogs - interview Toy dog walking group - interview News Fiction

Professor Sir Magdi Yacoub discusses research detailing the heterotropic cardiac transplantation procedure.

Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing magnetic resonance imaging findings in myotilin myopathy by studying 8 genealogically unrelated cases due to the same point mutation in TTID. Proximally, the vastii, biceps femoris and semimembranosus were involved with sparing of gracilis and sartorius. Distally, soleus, gastrocnemius, tibialis anterior, extensor hallicus and extensor digitorum were involved. This pattern contrasts with other distal myopathies and provides further support for the role of imaging in the clinical investigation of muscle disease. Copyright (C) 2009 S. Karger AG, Basel

An interview with Charles Bolton, MD, author of Critical illness polyneuropathy and myopathy. Crit Care Med 2001;29:2388-2390. Interviewed by Eliott Dimberg, MD and Mitchell Isaac, MD.

An interview with Charles Bolton, MD, author of Critical illness polyneuropathy and myopathy. Crit Care Med 2001;29:2388-2390. Interviewed by Eliott Dimberg, MD and Mitchell Isaac, MD.

Critical Illness Polyneuropathy and Myopathy by Charles Bolton, MD