POPULARITY
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 41 of the Living with PSC Podcast, Host Niall McKay talked with Dr. Stephen Rossi, Chief Scientific Officer for PSC Partners. In addition to Dr. Rossi's background, the two discussed PSC Partners research priorities and the progress of work being done worldwide to find treatments and a cure for PSC. "It's exciting to not only take what I've learned on the industry side and the clinical side, but actually work directly with the patient community," says Dr. Rossi. "There's alot of positive things evolving. I'd say, in the next five years, we're going to see a big breakthrough."
References Sinatra, Frank. timeless. My Way. https://youtu.be/qQzdAsjWGPg?si=TcpVOHDikKyyQdmC Acta Neuropathol. 2023 Jun;145(6):749-772 Signal Transduction and Targeted Therapy 2022. volume 7, Article number: 175 Cardiovascular Research 2007. 74: 526 – 536 J Investig Med. 2023 Feb;71(2):113-123 --- Send in a voice message: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/message Support this podcast: https://podcasters.spotify.com/pod/show/dr-daniel-j-guerra/support
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 40 of the Living with PSC Podcast, Host Niall McKay and his wife Marissa Aroy give us a rare peek behind the microphone as they discuss Niall's recent liver transplant. "We're doing a very unusual podcast today, because we're talking about myself," says Niall. "We don't really like to be on camera or in front of the microphone anymore, but we will make a special occasion of this for you to tell you what it was like for me to go and have a transplant."
Thank you for listening to this episode of "Health and Fitness" from the Nezpod Studios! Enjoy your night or the start of your day, spiced by our top-notch health and fitness/wellness updates coined from the best sources around the globe: made only for your utmost enjoyment and enlightenment… Click on subscribe to get more spicy episodes for free! See you again soon on the next episode of Health and Fitness Updates! Learn more about your ad choices. Visit megaphone.fm/adchoices
Thank you for listening to this episode of "Health and Fitness" from the Nezpod Studios! Enjoy your night or the start of your day, spiced by our top-notch health and fitness/wellness updates coined from the best sources around the globe: made only for your utmost enjoyment and enlightenment… Click on subscribe to get more spicy episodes for free! See you again soon on the next episode of Health and Fitness Updates! Learn more about your ad choices. Visit megaphone.fm/adchoices
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 39 of the Living with PSC Podcast, Host Niall McKay has an in-depth conversation with Dr. Palak Trivedi, BSc (hons), MBBS, MRCP Gastro (UK), PhD, Associate Professor, and Honorary Consultant Hepatologist, University of Birmingham, UK. They talk about the recurrence of PSC in people who have received a liver transplant. They also discuss the differences between PSC and PBC, clinical trials searching for treatments and a cure, studies exploring the cause of PSC, and how IBD, particularly colitis, may reduce the risk of post-transplant recurrence. "In retrospective studies, our group and others around the world have found that people who have colitis and have had their large bowel removed (and have kept their stoma), lower their risk of developing recurrence of PSC," says Dr. Trivedi.
Questions & cases regarding diagnostic workup and management for PBC, PSC, Alcoholic & Non-Alcoholic Fatty Liver Disease (steatosis, steatohepatitis), and Vascular Hepatopathy
In this episode, we review the high-yield topic of Primary Sclerosing Cholangitis from the Gastrointestinal section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message
06/12/2023 | CT of Sclerosing Mesenteritis: A Challenging Diagnosis
This episode covers primary sclerosing cholangitis.Written notes can be found at https://zerotofinals.com/medicine/gastroenterology/primarysclerosingcholangitis/ or in the gastroenterology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 38, Host Niall McKay has an illuminating conversation with Jessica and Ian Travis about Jessica's journey with PSC, her search for a liver, and how her husband Ian became her live donor. "I had alot of issues when I was first listed (for a liver transplant). I was having alot of panic attacks. I couldn't figure out why I was having them. I think alot of it was not having control over the situation." says Jessica. According to the couple, their story involves lots of assistance and kindness from others along the way.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In epidode 37 of the Living with PSC Podcast, Host Niall McKay talks with Dr. Laura Cristoferi, hepatologist, clinical research fellow, and PhD candidate, at Milano Bicocca University in Italy. They discuss PSC diagnosis and disease progression, the importance of PSC registries to share knowledge and improve research, various PSC therapies, and more. "We are building a national PSC registry in Italy," says Dr. Cristoferi. "We are trying to build a network in order to improve knowledge for diagnosis and management of this disease...and in order to have a rapid connection in case of clinical trials. Using this registry, we will have precise epidemiological data." Dr. Cristoferi highlights various research endeavors including her project aimed at discovering biomarkers to enable a more precise determination of PSC disease progression over time.
In this episode, we review the high-yield topic of Primary Sclerosing Cholangitis from the Gastrointestinal section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets
Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.02.526771v1?rss=1 Authors: Qi, C., Hasegawa, M., Takao, M., Sakai, M., Sasaki, M., Mizutani, M., Akagi, A., Iwasaki, Y., Miyahara, H., Yoshida, M., Scheres, S., Goedert, M. Abstract: Subacute sclerosing panencephalitis (SSPE) occurs in some individuals after measles infection, following a symptom-free period of several years. It resembles chronic traumatic encephalopathy (CTE), which happens after repetitive head impacts or exposure to blast waves, following a symptom-free period. As in CTE, when present, the neurofibrillary changes of SSPE are concentrated in superficial cortical layers. Here we used electron cryo-microscopy of tau filaments from two cases of SSPE to show that the tau folds of SSPE and CTE are identical. Two types of filaments were each made of two identical protofilaments with an extra density in the {beta}-helix region. Like in CTE, the vast majority of tau filaments were Type I, with a minority of Type II filaments. These findings suggest that the CTE tau fold can be caused by different environmental insults, which may be linked by inflammatory changes. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 36 of the Living with PSC Podcast, Host Niall McKay talks about drug repurposing with Ania Korsunska, MA, Biomedical Leadership Fellow and ROADMAP Project Lead, Castleman Disease Collaborative Network (CDCN). "(Drug repurposing) is an opportunity to utilize existing drugs that are in development or already approved and redirect for the rare disease space," says Korsunska. "It's potentially cheaper than novel drug development, potentially faster. It's potentially easier to get these drugs into a position that a doctor can actually prescribe them."
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 35 of the Living with PSC Podcast, Host Niall McKay talks with Dr. Kidist Yimam, Medical Director of the Autoimmune Liver Disease Program at California Pacific Medical Center. She is also a member of the PSC Partners Diversity, Equity, and Inclusion Working Group. In this podcast, they discuss health inequalities in PSC, including provider bias, lack of access to care, delay in diagnosis, importance of diversity in clinical trials, and more. "It is not unusual to hear from some of our minority patients that they've been told by other providers that PSC affects people who are Caucasian, and they shouldn't be affected by the disease, leading to a delay in diagnosis of PSC, and even putting them at risk of poorer outcomes," says Dr. Yimam. McKay and Yimam also discuss how including a diverse group of people in PSC natural history studies will allow researchers to better understand how genetics, socio-economic factors, cultural biases, and more affect the search for treatments and a cure for PSC. To make that happen, diversity is needed within the PSC Partners Patient Registry.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 34 of the Living with PSC Podcast, Host Niall McKay talks with Nicola Tessier, a post-transplant PSC patient, about her PSC diagnosis, dealing with symptoms, MELD score issues for PSC patients, receiving a living donor liver transplant from her brother, having children post-transplant, and much more. "The need for a liver transplant was heavily driven by my (increased) risk for cholangiocarcinoma," says Tessier. "On paper, I looked less sick than I really was. So, the option of a living donor was a better fit for me." She received 56% of her younger brother's liver. "It was a very special day," she says.
Although the etiology of primary sclerosing cholangitis (PSC) is poorly understood it is a progressive disease characterized by inflammation of the bile ducts. This week I interview RD Brittany Roman-Green and we discuss primary sclerosing cholangitis, its relationship to ulcerative colitis and what the current research says about it. Brittany Roman-Green is the founder of Romanwell and is an IBD focused registered dietitian nutritionist, certified personal trainer, and behavior change specialist. Brittany's the national coleader of the diet and nutrition national scientific advisory committee for the Crohn's and Colitis Foundation and the national leader of the registered dietitians in IBD practice group for the Academy of Nutrition and Dietetics. Brittany has lived with ulcerative colitis for over 20 years and also has IBS and PSC. We talk about: What is primary sclerosing cholangitis (PSC) What are the symptoms of PSC? Why do people with IBD develop PSC? Does nutrition influence PSC management? Nutrition management of IBD, including a discussion about inflammatory foods The use of restrictive diets and their potential side effects The 2020 International Organization for the study of IBD guidelines Connect with Roman-Green on her website at romanwell.com on Instagram @weareromanwell or on her Facebook here as well! You can also checkout their IBD starter kit that's full of tips for advocating for oneself when you have IBD.
Vallerie “Val” Perrault, 32, sclerosing epithelioid fibrosarcoma, Wethersfield, CT, with Dr. Candace Haddox, Physician, Sarcomas, Dana-Farber Matilda "Tilly" Danoff, 3, spinal glioma, Somerville, with parents, Josh and Clare, and sister, Josephine (8) Stephanie Lafontaine, 41, breast cancer, Everett, with Dr. Filipa Lynce, Director, Inflammatory Breast Center, Dana-Farber
Vallerie “Val” Perrault, 32, sclerosing epithelioid fibrosarcoma, Wethersfield, CT, with Dr. Candace Haddox, Physician, Sarcomas, Dana-Farber ● Just days before Christmas last year, Val was diagnosed with a rare and aggressiveform of sarcoma called sclerosing epithelioid fibrosarcoma.● After an emergency room visit due to extreme shortness of breath, it was discoveredthat her entire left lung cavity was filled with fluid. Subsequent CT scans revealed atumor and a biopsy confirmed the diagnosis of sarcoma. Sarcomas are a group ofcancers that begin in the bones and in the soft tissues of the body.● Val underwent two rounds of chemotherapy; however, the cancer did not respond toit. Her treatment team recommended a newer form of cancer therapy known asimmunotherapy. Immunotherapy enables the body's own immune system torecognize and destroy cancer cells. This therapy has helped to keep Val's cancerstable.● Val was referred to Dana-Farber due to the rarity of her cancer.● Val is currently disabled but previously was a yoga teacher, photographer and writer.Sarcoma facts● Sarcoma is a rare cancer that affects the connective tissue in the body. These tumorsare divided into tumors of the bone or soft tissue.● According to the American Cancer Society, there will be an estimated 13,190 newsoft tissue sarcomas will be diagnosed in the United States for 2022.● According to the National Foundation for Cancer Research, sarcoma is a rare cancer,accounting for about 1% of adult cancers.● They are relatively more common among children. Between 1,500 and 1,700children are diagnosed with a bone or soft tissue sarcoma in the U.S. each year. Thismakes up about 15% of cancers in children under the age of 20.● There are 50 different types of soft tissue sarcomas, which can develop in manydifferent locations and tissues within the body.● Sarcoma cancer cells do not respond to regular cell growth, division and deathsignals like healthy cells do. They also don't organize normally. Instead, they grow into a tumor, which may invade surrounding layers of tissue and possibly spread toother organs.● About 50-60% of sarcomas occur in the arms or legs, and other common areasinclude in the head and neck area, the internal organs or the back of the abdominalcavity (retroperitoneum). Dr. Candace Haddox● Dr. Haddox is a medical oncologist focused on the treatment of soft tissue and bonesarcomas. She has a longstanding interest in sarcomas and is passionate aboutidentifying and developing novel, effective therapies for these diseases.● She serves as the sarcoma liaison to the Center for Cancer Therapeutic Innovation(CCTI) which is Dana-Farber's early phase clinical trial group.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 33 of the Living with PSC Podcast, Host Niall McKay talks with Hepatologist and Senior Research Clinician Theo Heller, MD, and Hepatology Fellow Gracia Viana, MD, National Institute for Health (NIH) Clinical Center, about their primary sclerosing cholangitis (PSC) study. "We want to study the evolution of PSC," says Dr. Heller. "We're proposing a study that has the potential of unraveling some of the most fundamental aspects of the disease." Information about this study will be sent to PSC Partners Registry participants. If you are a PSC patient but have not yet joined the Patient Registry, now would be a good time. www.pscpartnersregistry.org Questions about the Registry? Email: registrycoordinator@pscpartners.org
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 32, Host Niall McKay talks with Dr. Espen Melum, MD, PhD, Norwegian PSC Research Center, about a new discovery in PSC research. Dr. Melum and his colleagues have discovered antigens that activate T cells, or MAIT cells, that are present in a number of PSC patients participating in the study. These findings point to the role of contaminated bile in the onset of PSC.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 31, Host Niall McKay talks with Josh Korzenik, MD, Brigham and Women's Hospital, and Dan Pratt, MD, Massachusetts General Hospital, about the upcoming 2022 Annual PSC Partners Conference, June 2-5, now in a virtual format. This is the second of two conversations about this Conference. "It's going to be a slightly different and very exciting conference," says Dr. Korzenik. "It's envisioning a very different kind of future for PSC where there's a broader engagement of everybody, and it's really becoming much more of an international community, which is very exciting." Dr. Pratt agrees, adding, "An exciting research initiative that will be rolled out at the conference is the WIND Initiative (Worldwide Integration of Natural History Databases), which will, hopefully, accelerate our identification of new therapies for PSC."
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 30, Host Niall McKay talks with Joanne Hatchett, Medical Science Liaison for PSC Partners, about the upcoming 2022 Annual PSC Partners Conference, June 2-5, now in a virtual format. This is the first of two conversations about this topic. "Dr. Josh Korzenik of Brigham and Women's and Dr. Dan Pratt of Mass General Hospital have been working with our PSC team to plan an amazing conference this year," says Hatchett. "Sessions will focus on featuring the patient's voice, because that's at the heart of the conference, (and we're also planning) many ways to meet, (learn), and socialize before during and after the (virtual event).
Hey MedTalkers, check out this episode where Dr Sahil Nichani goes through primary sclerosing cholangitis. This is a rare condition involving the biliary tree and presents similarly to Primary Biliary Cholangitis (see previous episode). As always, please leave some review and feedback. Tell us how we can improve!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 29, Host Niall McKay talks with Dr. Ruth-Anne Pai, PhD, PSC Partners Director of Research Strategy. They discuss the future of PSC research, the importance of patient voice and participation, PSC Partners research priorities, and more. "We, as a community, with the patient voice, are prioritizing the most important questions," says Pai, adding that three primary areas of focus have been identified, so far. "Having a Patient-Reported Outcome Measure (PROM), surrogate endpoints, and an external control arm (will), we hope, accelerate and improve the rate of success for clinical trials."
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 28, Host Niall McKay talks with Dr. Steven O'Hara, PhD, Associate Professor of Medicine, Assistant Professor of Biochemistry and Molecular Biology, and Research Scientist, Division of Gastroenterology and Hepatology at Mayo Clinic. They discuss the search for treatments and a cure for PSC. "We're interested in the gut microbiome, of course, because we know there's a link between inflammatory bowel disease and primary sclerosing cholangitis," says Dr. O'Hara. "The multitude of microorganisms in the gut certainly influence many different diseases. There's increasing evidence that it may influence PSC, as well. So, our link would be what's happening in the gut...How does it actually affect the biliary epithelial cell function in this disease?"
In this episode of Bowel Sounds, hosts Drs. Jennifer Lee and Peter Lu talk to Dr. Dennis Black about Primary Sclerosing Cholangitis. We discuss etiology, surgical therapies, controversies with ursodiol, overlap syndrome, and it's association with IBD. Hear what it was like on the first successful pediatric living donor liver transplant team, and about his record label Black and Wyatt (blackandwyattrecords.com). We also listen to career advice from the 2020 American Gastroenterological Association Institute Council Section on Obesity, Metabolism and Nutrition Research Mentor Award winner. As always, the discussion, views, and recommendations in this podcast are the sole responsibility of the hosts and guests and are subject to change over time with advances in the field.Produced by: Jennifer LeeSpecial requests:Thank you to everyone for listening to our podcast. If you enjoyed this content and thought it was useful, we ask you to consider doing any or all of the following three things:Tell one person who you think would like this type of content about the podcast. We want to reach more GI doctors and trainees and general pediatricians, pediatric residents, and medical students.Leave a review on Apple Podcasts -- this helps more people discover our podcast.You can also support the show by making a donation to the NASPGHAN FoundationSupport the show (https://www.naspghan.org/content/87/en/foundation/donate)Support the show (https://www.naspghan.org/content/87/en/foundation/donate)
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 27, Host Niall McKay talks with PSC Partners Medical Science Liaison and PSC Caregiver Joanne Hatchett. They discuss her role at PSC Partners, the value of PSC Partners efforts to represent the patient voice, the current and future state of PSC research, the aim of the PSC Partners Roadmap Initiative, and more. "Researchers have said that PSC is the black box of liver diseases," says Hatchett. "So little is known, and we need to delve deep, so that we discover the unknown aspects of (this rare disease)." Click here to visit the ROADMAP Initiative webpage.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 26, Host Niall McKay talks with Dr. Cyriel Ponsioen, senior staff member at the Department of Gastroenterology & Hepatology at the Academic Medical Center (AMC) in Amsterdam, about research being done to determine the benefits of fecal microbiota transplantation in PSC patients with IBD. During the conversation, McKay and Ponsioen also speak about antibiotics, bacteriophages, the creation of the International PSC Study Group, and more.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 25, Host Niall McKay talks with Dr. Gideon Hirschfield about the use of antibiotics for the treatment of infection in primary sclerosing cholangitis (PSC). Hirschfield says that antibiotics are used for the treatment of intermittent, symptomatic cholangitis in patients with PSC. "There's no evidence that the long-term use of antibiotics will change what ultimately happens to PSC patients," says Dr. Hirschfield. "But there's definitely evidence that, once you've got an infection, that drives PSC progression, which makes sense. Once the biliary tree is inflamed, it's never the same." McKay and Hirschfield touch on various PSC-related topics, including research into new ways to treat PSC symptoms. Dr. Hirschfield is the inaugural Lily and Terry Horner Chair in Autoimmune Liver Disease Research at the Toronto Centre for Liver Disease, Toronto General Hospital, and Professor of Medicine in the Division of Gastroenterology at the University of Toronto. As a clinician-scientist, Dr. Hirschfield manages a broad platform of translational and trials-based clinical science with the goal of advancing therapies for patients with inflammatory liver disease that prevent the need for transplantation.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 24, Host Niall McKay talks with Post-transplant PSCer, Author, Mom, and Host of PSC Mami Podcast Monika Aldarondo. "It's been interesting to learn that recurrent PSC does not follow the same trajectory or path as your original PSC," says Aldarondo. "So far, for me, this has been a really different experience." In the podcast, McKay and Aldarondo cover several interesting topics, including: Long-term Prognosis and Recurrence of Primary Sclerosing Cholangitis After Liver Transplantation: A Single-Center Experience Ring Theory Spoon Theory But You Don't Look Sick PSC Partners Mentor Program
Listen as Dr. London Smith (.com) and his producer Cameron discuss Primary Sclerosing Cholangitis with Magic Mike (Kayla Teel). Not so boring! https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Guest: Kayla Teel. Produced by: Dylan Walker Created by: London Smith
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 23, Host Niall McKay talks with Dr. Josh Korzenik, gastroenterologist, director of the Resnek Family Center for Primary Sclerosing Cholangitis Research, and director of Brigham and Women’s Hospital Crohn’s and Colitis Center at Harvard Medical School. They discuss PSC & Diet, Understanding IBD/PSC Relationship, and more. "In order to understand PSC, we need to understand (IBD). That's the best clue we have, and in order to understand (IBD), we need to understand PSC. We think that (they) hold valuable insights for the other," says Dr. Korzenik.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 22, Host Niall McKay talks with PSC Partners Patient Registry Director Rachel Gomel about the value of the PSC Patient Registry and the importance of this database in the search for treatments and a cure for PSC. "The collected information helps in our understanding of where our rare patients are located. The registry also shows us who could be a match for a specific clinical trial, and how aggregated data collected on patients can show disease trends and unmet needs," says Gomel. "The privacy of the patients is of utmost importance to PSC Partners," she adds.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 21, Host Niall McKay talks with Dr. Johannes Hov, professor of gastroenterology, University of Olso, Norway, and member of the Norwegian PSC research group. They discuss research being done on PSC and the microbiome. "What we have been doing, so far, is really to study what is the composition of the microbiome in patients with PSC. What we have found is that it's alot different from individuals who are healthy, but what does this mean? That's really the big question." McKay and Hov explore this in this episode of the Living with PSC Podcast.
JEADV Associate Editor Prof. Franco Rongioletti shares with us his research on hidradenitis suppurativa, sclerosing diseases, molluscum contagiosum. He discusses the newest therapeutic recommendations in the "2020 European guideline on the management of genital molluscum contagiosum" and his experience with COVID-19 in Italy.
This episode covers primary sclerosing cholangitis!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In episode 20, Host Niall McKay talks with Julie K. Heimbach, M.D., transplant surgeon and surgical director of Liver Transplantation at Mayo Clinic. They discuss various aspects of PSC and liver transplants. "Ideally, we could provide (liver transplants) at the exact time when it is appropriate for the patient. Unfortunately, there are not enough donor livers available for that to happen," Dr. Heinbach tells McKay in this podcast.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 19th episode, Host Niall McKay talks with Dr. Cara Mack, University of Colorado School of Medicine and Children's Hospital Colorado, about pediatric primary sclerosing cholangitis (PSC). They discuss treatments being investigated, symptoms, liver transplant, and more.
Bile ducts carry the digestive liquid bile from your liver to your small intestine. In primary sclerosing cholangitis, inflammation causes scars within the bile ducts. These scars make the ducts hard and narrow and gradually cause serious liver damage. Our guest today is Jenna Zigler an avid blogger at The Comical Colon
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 18th episode, Host Niall McKay talks with Dr. Nathan Baggett, medical resident and PSCer who has undergone multiple liver transplants. “I never wanted PSC to put limits on how I live my life," says Dr. Baggett.
Internal medicine resident Elie Adler tells a story about loving someone with a chronic illness, how that relationship changed when she became a doctor, and how being a doctor affects her relationship. Illustrations by Lindsay Mound. Original theme music by Yosef Munro. Other music comes from Blue Dot Sessions. This season of The Nocturnists was made possible by the California Medical Association. Learn more at cmadocs.org. Learn more and support us at thenocturnists.com. Thank you!
Bill discusses going through the process of getting his young son’s Ulcerative Colitis and Primary Sclerosing Cholangitis diagnosis, a diagnosis that is incredibly rare in young children. He speaks to what it meant to find a fellow parent of a young PSCer to support him through the emotional challenges and navigating the medical world of pediatric PSC.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast explores the latest research and knowledge about primary sclerosing cholangitis (PSC), a rare liver disease. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 17th episode, Host Niall McKay talks with Dr. John Eaton, MD, transplant hepatologist and gastroenterologist at Mayo Clinic, about the future with regards to discovering new treatments and, eventually, a cure for PSC. “I am more optimistic than I have ever been about the future prospects of caring for people with PSC,” states Dr. Eaton.
Alex discusses her journey up to and following her young child’s diagnosis of Primary Sclerosing Cholangitis. She reflects on her reaction to the diagnosis, how it affected her relationships, and how she was able to move forward and face her child’s a
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 16th episode of Living with PSC, Niall McKay talks with Dr. Jerome Schofferman, MD, about his dual role as PSC patient and physician and what it has taught him about living with a chronic illness, treating patients, and including caregivers in the process. Dr. Schofferman, MD., is a retired Internist and Pain Medicine Specialist from Sausalito, CA.
Amanda was diagnosed with Primary Sclerosing Cholangitis at 23 and one-year into her marriage. A little over a year later, she received a living donor transplant. She shares how her diagnosis and transplant forced her to rethink what her expectations were as she has forged a new life path with flexibility, grief, gratitude, community, redemption and even a little anger. She shares what it’s like to be expecting her first child any day. Contact PSC Mami Podcast to share your story at pscmami.com/stories Amanda mentions the Transplant Pregnancy Registry
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 15th episode of Living with PSC, Media Producer Niall McKay talks with Dr. Christopher Bowlus, division chief of gastroenterology & hepatology and professor at UC Davis, about drug and clinical development in the search for treatments and a cure for primary sclerosing cholangitis (PSC).
Primary sclerosing cholangitis
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 14th episode of Living with PSC, Media Producer Niall McKay has a conversation with Dr. James Tabibian, a gastroenterologist and director of endoscopy and resident research director at Olive View-UCLA Medical Center, about the possible use of Vancomycin as a treatment for primary sclerosing cholangitis (PSC).
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 13th episode of Living with PSC, Niall McKay interviews attendees, presenters, and hosts at the 15th Annual PSC Partners Seeking a Cure conference.
SCORE Modules Covered: Diseases/Conditions - Primary Sclerosing Cholangitis (Advanced)
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 12th episode of Living with PSC, Niall McKay discusses living donor liver tranplant and PSC with John Crowley, whose brother was his living donor.
Author: Nicholas Hatch, MD Educational Pearls: Measles has a period of infectivity starts before the appearance of the characteristic rash, up to 4-5 days A devastating consequence of measles is Subacute Sclerosing Panencephalitis (SSPE), which manifests 7-10 years after the initial measles infection SSPE is a central nervous system disease that has no cure and is nearly universally fatal Educating patients on the importance of vaccination should include discussion of these long term consequences References Pallivathucal LB, Noymer A. Subacute sclerosing panencephalitis mortality, United States, 1979-2016: Vaccine-induced declines in SSPE deaths. Vaccine. 2018 Aug 23;36(35):5222-5225. doi: 10.1016/j.vaccine.2018.07.030. Epub 2018 Jul 26. PubMed PMID: 30057285. Summarized by Will Dewispelaere, MS3 | Edited by Erik Verzemnieks, MD
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the 11th episode of Living with PSC, Niall McKay discusses motherhood and PSC with Monika Aldarondo, a PSCer juggling parenthood and her rare disease. Enjoy!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the tenth episode of Living with PSC, Niall McKay discusses nutritional guidance for PSC patients, with Dr. Valentina Medici, Associate Professor, University of California Davis. Enjoy!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the ninth episode of Living with PSC, Niall McKay discusses the interaction between genetics and environmental exposures in PSC, with Dr. Konstantinos Lazaridis from Mayo Clinic Rochester. Dr. Lazaridis has received multiple PSC Partners research grants. Enjoy!
In this episode I cover primary sclerosing cholangitis.If you want to follow along with written notes on primary sclerosing cholangitis go to zerotofinals.com/primarysclerosingcholangitis or find the gastroenterology section in the Zero to Finals medicine book.This episode covers the pathophysiology, presentation, diagnosis, complications and management of primary sclerosing cholangitis.The audio in the episode was expertly edited by Harry Watchman.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the eighth episode of Living with PSC, Niall McKay discusses the influence of the medication Ursodiol (aka URSO and UDCA) on PSC, including the impact of combining it with antihistamines, with Dr. Heather Francis, PhD, associate professor at the Texas A & M College of Medicine and recipient of a PSC Partners research grant. Enjoy!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the seventh episode of Living with PSC, Niall discusses liver transplantation and PSC with Dr. Julie Heimbach, transplant surgeon and surgical director of liver transplantation at Mayo Clinic in Rochester, MN. Enjoy!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the sixth episode of Living with PSC, Niall McKay interviews Trish Stoltzfus, professional medical coder and mother of a PSC patient, about the new ICD-10 code for primary sclerosing cholangitis (K83.01). Enjoy!
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the fifth episode of Living with PSC, Niall McKay interviews Dr. Cyriel Ponsioen about Fecal Microbiota Transplantation (FMT). Dr. Ponsioen is a senior staff member at the Department of Gastroenterology & Hepatology at the Academic Medical Center in Amsterdam, and is a member of PSC Partners' Scientific/Medical Advisory Committee. Enjoy!
Heather was diagnosed with Primary Sclerosing Cholangitis young, then made it through nursing training, graduate school, dating, getting married, and having her first baby before her PSC symptoms started to really affect her quality of life. She speaks about how she and her husband approached having another child, planning for, then recovering from, a living donor transplant, and how roles and work have shifted in their family.
PSC Partners Seeking a Cure is pleased to present Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the fourth episode of Living with PSC, Niall McKay interviews Dr. Gideon Hirschfield about a variety of topics related to PSC. Dr. Hirschfield is a member of PSC Partners' Scientific/Medical Advisory Committee. Enjoy!
PSC Partners Seeking a Cure is thrilled to announce the launch of Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the third episode of Living with PSC, Niall McKay interviews Dr. Scott Bea about the uncertainty of living with PSC. Dr. Bea is a Clinical Psychologist at the Cleveland Clinic. Enjoy!
PSC Partners Seeking a Cure is thrilled to announce the launch of Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In the second episode of Living with PSC, Niall McKay interviews Dr. Chris Bowlus about diet and some of the emerging treatments for PSC. Dr. Bowlus is a Professor and Division Chief of Gastroenterology and Hepatology at the University of California, Davis, and is co-host of our 2018 Conference in Sacramento. He is also co-chair of PSC Partners' Scientific/Medical Advisory Committee and scientific head of the PSC Partners Registry. Enjoy!
Emily has been battling serious illnesses, PSC, UC since she was 19, and liver cancer at 33. As a mother, she has done her best to create an optimistic life with as little fear for her young son as possible as she has survived a colectomy, cancer treatment and a liver transplant. She discusses what it was like to be in survival mode for most of her adult life, what it meant to be a “sick mom” and how her outlook since transplant is all about her zest for life and what might come next. Bonus resource mentioned by PSC Mami at end of episode: Selfless Snowman | Doc McStuffins
PSC Partners Seeking a Cure is thrilled to announce the launch of Living With PSC, a podcast moderated by Niall McKay. Each month, this podcast will explore the latest research and knowledge about PSC. From patient stories, to the latest research updates from PSC experts, to collaborations that are necessary to find better treatments and a cure, this podcast has it all! In Episode 1, Niall speaks with Ricky Safer, Founder and CEO of PSC Partners Seeking a Cure. Enjoy!
Natalie learned of her PSC diagnosis when her sons were very young. She had been pursuing the “perfect” stay-at-home-mom life and soon discovered that when mother is your central role, PSC will definitely affect how you parent. She shares how she has talked to her sons about PSC and how her family has grown in not only understanding her disease but becoming very active in the larger PSC community.
Serbrina and her husband survived a 10-year waitlist for her life saving transplant made necessary by the progression of Primary Sclerosing Cholangitis. While her feelings about motherhood at this stage in her life are complex, she holds possibility for that and all areas of her life. She discusses the shifting considerations, emotions, and frames of mind that PSC brought to her lived experience and how a successful transplant has transformed how she approaches time and living life.
Katrina’s medical journey began at 15 with her Ulcerative Colitis diagnosis, but as she found experts that provided much needed relief, she was diagnosed with Primary Sclerosing Cholangitis. She discusses her shift in outlook, her support system, her second pregnancy and what role PSC plays, or doesn’t, in her day to day life.
Jessica’s early and intense introduction to life saving procedures means many discussions about IVF, surrogacy, and adoption with her husband, family and friends. She listens to herself and her body and chooses a path, that while not easy, lives up to her goal of living life without regrets.
Kiersten knew the dangers of Primary Sclerosing Cholangitis as a result of her father’s diagnosis. She faced her own diagnosis as a young adult and found that her PSC had a different progression. In the 3-year window that her doctor gave her, she had two pregnancies that included a lot of uncertainty, bed rest and ultimately, vibrant young children.
Britt was diagnosed with Primary Sclerosing Cholangitis when her daughter was 2 years old. Years later she was surprised to find she was pregnant again with her son. She speaks to the emotional process of accepting her diagnosis as a mom, focusing on her health, and re-imagining what her family would look like.
What does Pyongyang, a gigantic needle, poo poo, jaundice, and beaver anal glands have in common? This weeks episode of Sickboy! This week the guys sit down with Hilary and talk about her experience living with Primary Sclerosing Cholangitis. PSC is a progressive liver disease that will one day likely lead to the need for a liver transplant! Tune in for an educational conversation chalk full of tangents! www.sickboypodcast.com Support us on Patreon https://www.patreon.com/sickboy Like us on Facebook https://www.facebook.com/sickboypodcast Follow us on Instagram https://www.instagram.com/sickboypodcast/ Make love to us on Twitter https://www.twitter.com/sickboypodcast
What does Pyongyang, a gigantic needle, poo poo, jaundice, and beaver anal glands have in common? This weeks episode of Sickboy! This week the guys sit down with Hilary and talk about her experience living with Primary Sclerosing Cholangitis. PSC is a progressive liver disease that will one day likely lead to the need for a liver transplant! Tune in for an educational conversation chalk full of tangents!
What does Pyongyang, a gigantic needle, poo poo, jaundice, and beaver anal glands have in common? This weeks episode of Sickboy! This week the guys sit down with Hilary and talk about her experience living with Primary Sclerosing Cholangitis. PSC is a progressive liver disease that will one day likely lead to the need for a liver transplant! Tune in for an educational conversation chalk full of tangents!
Audible Article by Ryan Law D.O., and Todd H. Baron M.D., F.A.S.G.E.
Audible Article by Ryan Law D.O., and Todd H. Baron M.D., F.A.S.G.E.
A review article in the September issue of Gastroenterology takes a comprehensive look at current understanding of primary sclerosing cholangitis (PSC) and discusses important topics for future studies
Dr. Preethi Gondi discusses her manuscript, "Progressive Primary Sclerosing Cholangitis Requiring Liver Transplantation Is Associated With Reduced Need for Colectomy in Patients With Ulcerative Colitis."
A study in the March issue of CGH looks at whether primary sclerosing cholangitis is also a risk factor for colorectal dysplasia or cancer in patients with Crohn's disease of the colon. Dr. Kuemmerle speaks with senior author Dr. Roger Chapman
Background: Secondary sclerosing cholangitis is a severe disease of the biliary tract. Over the last decade, several cases of sclerosing cholangitis in critically ill patients (SC-CIP) were reported. Reports in the literature so far are characterized by a wide variety of underlying causes of critical illness, thereby hindering a risk-factor analysis. We report on a homogenous cohort of critically ill patients with influenza A (H1N1) pneumonia and severe acute respiratory distress syndrome (ARDS), of whom a subgroup developed sclerosing cholangitis, allowing for probing of risk factors associated with SC-CIP. Methods: Twenty-one patients (5 female, 16 male, 46.3 +/- 10.8 years) with severe ARDS due to H1N1 pneumonia were retrospectively divided into two groups, characterized by the presence (n = 5) and absence of SC-CIP (n = 16). A large array of clinical data, laboratory parameters, and multi-detector computed tomography-derived measures were compared. Results: Both patient groups showed severe pulmonary impairment. Severity of disease on admission day and during the first 14 days of treatment showed no difference. The patients developing SC-CIP had a higher body mass index (BMI) (37.4 +/- 6.0 kg/m(2) vs. 29.3 +/- 6.8 kg/m(2); P = 0.029) and a higher volume of intraperitoneal fat (8273 +/- 3659 cm(3) vs. 5131 +/- 2268 cm(3); P = 0.033) and spent a longer cumulative period in the prone position during the first 14 days (165 +/- 117 h vs. 78 +/- 61 h; P = 0.038). Conclusion: Our results suggest that obesity, intraperitoneal fat volume, and a longer cumulative duration spent in the prone position may put patients with ARDS at risk of developing SC-CIP. These results lead us to propose that the prone position should be carefully deployed, particularly in abdominally obese patients, and that frequent checks be made for early hepatic dysfunction.
Sclerosing peritonitis is a rare form of peritoneal inflammation with an often fatal outcome. The major risk factor of sclerosing peritonitis is peritoneal dialysis treatment but it can also occur following renal or liver transplantation or be associated with certain drug treatment. This article gives an overview of reasons and treatment options for sclerosing peritonitis and shows a summery of current literature about sclerosing peritonitis.
Seasonal changes: aligning your energy with Autumn. Applying the principles of Traditional Chinese Medicine broadly. Sclerosing tissue. Prostate-Specific Antigen (PSA) testing. In depth look at blood fats and laboratory report. Herbal formulas for coronary artery profusion and clearing the arteries. Supplements for arterial health. The importance of a deep sleep for healing. Concerns about overuse [...]Read More »
There is a paucity of data on fertility or pregnancy in patients with primary sclerosing cholangitis (PSC).
Background/Aims: The chromosome 4q27 region harboring IL2 and IL21 is an established risk locus for ulcerative colitis (UC) and various other autoimmune diseases. Considering the strong coincidence of primary sclerosing cholangitis (PSC) with UC and the increased frequency of other autoimmune disorders in patients with primary biliary cirrhosis (PBC), we investigated whether genetic variation in the IL2/IL21 region may also modulate the susceptibility to these two rare cholestatic liver diseases. Methods: Four strongly UC-associated single nucleotide polymorphisms (SNPs) within the KIAA1109/TENR/IL2/IL21 linkage disequilibrium block were genotyped in 124 PBC and 41 PSC patients. Control allele frequencies from 1,487 healthy, unrelated Caucasians were available from a previous UC association study. Results: The minor alleles of all four markers were associated with a decreased susceptibility to PSC (rs13151961: p = 0.013, odds ratio (OR) 0.34; rs13119723: p = 0.023, OR 0.40; rs6822844: p = 0.031, OR 0.41; rs6840978: p = 0.043, OR 0.46). Moreover, a haplotype consisting of the four minor alleles also had a protective effect on PSC susceptibility (p = 0.0084, OR 0.28). A haplotype of the four major alleles was independently associated with PSC when excluding the patients with concomitant inflammatory bowel disease (p = 0.033, OR 4.18). Conclusion: The IL2/IL21 region may be one of the highly suggestive but so far rarely identified shared susceptibility loci for PSC and UC. Copyright (C) 2011 S. Karger AG, Basel
Background: Pulmonary sclerosing hemangioma (SH) is a rare tumor of the lung predominantly affecting Asian women in their fifth decade of life. SH is thought to evolve from primitive respiratory epithelium and mostly shows benign biological behavior; however, cases of lymph node metastases, local recurrence and multiple lesions have been described. Case Presentation: We report the case of a 21-year-old Caucasian male with a history of locally advanced and metastatic rectal carcinoma (UICC IV; pT4, pN1, M1(hep)) that was eventually identified as having hereditary non-polyposis colorectal cancer (HNPCC, Lynch syndrome). After neoadjuvant chemotherapy followed by low anterior resection, adjuvant chemotherapy and metachronous partial hepatectomy, he was admitted for treatment of newly diagnosed bilateral pulmonary metastases. Thoracic computed tomography showed a homogenous, sharply marked nodule in the left lower lobe. We decided in favor of atypical resection followed by systematic lymphadenectomy. Histopathological analysis revealed the diagnosis of SH. Conclusions: Cases have been published with familial adenomatous polyposis (FAP) and simultaneous SH. FAP, Gardner syndrome and Li-Fraumeni syndrome, however, had been ruled out in the present case. To the best of our knowledge, this is the first report describing SH associated with Lynch syndrome.
TGR5, the G protein-coupled bile acid receptor 1 (GPBAR1), has been linked to inflammatory pathways as well as bile homeostasis, and could therefore be involved in primary sclerosing cholangitis (PSC) a chronic inflammatory bile duct disease. We aimed to extensively investigate TGR5 sequence variation in PSC, as well as functionally characterize detected variants. Complete resequencing of TGR5 was performed in 267 PSC patients and 274 healthy controls. Six nonsynonymous mutations were identified in addition to 16 other novel single-nucleotide polymorphisms. To investigate the impact from the nonsynonymous variants on TGR5, we created a receptor model, and introduced mutated TGR5 constructs into human epithelial cell lines. By using confocal microscopy, flow cytometry and a cAMP-sensitive luciferase assay, five of the nonsynonymous mutations (W83R, V178M, A217P, S272G and Q296X) were found to reduce or abolish TGR5 function. Fine-mapping of the previously reported PSC and UC associated locus at chromosome 2q35 in large patient panels revealed an overall association between the TGR5 single-nucleotide polymorphism rs11554825 and PSC (odds ratio = 1.14, 95% confidence interval: 1.03-1.26, p = 0.010) and UC (odds ratio = 1.19, 95% confidence interval 1.11-1.27, p = 8.5 x 10(-7)), but strong linkage disequilibrium precluded demarcation of TGR5 from neighboring genes. Resequencing of TGR5 along with functional investigations of novel variants provided unique insight into an important candidate gene for several inflammatory and metabolic conditions. While significant TGR5 associations were detected in both UC and PSC, further studies are needed to conclusively define the role of TGR5 variation in these diseases.
Tue, 1 Jan 2002 12:00:00 +0100 https://epub.ub.uni-muenchen.de/16896/1/10_1159_000065857.pdf Rocken, M.; Ghoreschi, K. ddc:610, Medizin