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6 episodes with polyposis
3 episodes with polyposis
2 episodes with polyposis
2 episodes with polyposis
2 episodes with polyposis
2 episodes with polyposis
2 episodes with polyposis
2 episodes with polyposis
3 episodes with polyposis
In this episode, we review the high-yield topic of Familial Adenomatous Polyposis from the Gastrointestinal section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets
A rare condition comes with a choice, remove your colon, or wait for cancer. New research aimed at delaying the cancer as long as possible. The important first step and need for new treatments.
In this episode, host Dr. Marc Dubin speaks with Dr. Gurston Nyquist. They discuss his recently published article: Optimizing the timing of biologic and surgical therapy for patients with refractory chronic rhinosinusitis with nasal polyposis (CRSwNP). Read the article in the International Forum of Allergy and Rhinology. Listen and subscribe for free on Apple Podcasts , Google Podcasts and Subscribe […]
In this episode, host Dr. Sarah Wise speaks with Dr. Bobby Tajudeen. They discuss his recently published article: Histopathologic features of biologic therapy nonresponders in chronic rhinosinusitis with nasal polyposis. Read the article in the International Forum of Allergy and Rhinology. Listen and subscribe for free on Apple Podcasts , Google Podcasts and Subscribe on Android.
In this episode, we review the high-yield topic of Familial Adenomatous Polyposis 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
Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.17.549243v1?rss=1 Authors: Tran, H., Frank, D., Bergamasco, M., Mlodzianoski, M., Kueh, A., Tsui, E., Hall, C., Kastrappis, G., Voss, A. K., McLean, C., Faux, M. C., Rogers, K., Tran, B., Vincan, E., Komander, D., Dewson, G. Abstract: Trabid/ZRANB1 missense mutations have been identified in children diagnosed with a range of congenital disorders including reduced brain size, but how Trabid regulates neurodevelopment is not understood. We have characterised these patient mutations in cells and mice to identify a key role for Trabid in the regulation of neurite growth. One of the patient mutations flanked the catalytic cysteine of Trabid and its deubiquitylating (DUB) activity was abrogated. The second variant retained DUB activity, but failed to bind STRIPAK, a large multiprotein assembly implicated in cytoskeleton organisation and neural development. Trabid/ZRANB1 knock-in mice harbouring either of these patient mutations exhibited reduced neuronal and glial cell densities in the brain and a motor deficit consistent with fewer dopaminergic neurons and projections. Mechanistically, both DUB-impaired and STRIPAK-binding-deficient Trabid variants impeded the trafficking of adenomatous polyposis coli (APC) to microtubule plus-ends. Consequently, the formation of neuronal growth cones and the trajectory of neurite outgrowth from mutant midbrain progenitors were severely compromised. We propose that STRIPAK recruits Trabid to deubiquitylate APC, and that in cells with mutant Trabid, APC becomes hyperubiquitylated and mislocalised causing impaired organisation of the cytoskeleton that underlie the neuronal and developmental phenotypes. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC
Our Colorectal Surgery Oral Board Audio Review includes 51 high-yield scenarios designed for Colorectal Surgeons by Colorectal Surgeons. Scenarios are 5 to 7 minutes long and include a variety of tactics and styles. If you are able to achieve this level of performance in your preparation you are sure to pass the oral exam with flying colors. The second part introduces high-yield commentary to each scenario. This commentary includes tips and tricks to help you dominate the most challenging scenarios in addition to practical, easy-to-understand teaching that covers the most confusing topics we face as colorectal surgeons. We are confident you will find this unique, dual format approach a highly effective way to prepare for the test. Learn more about the full set of 51 scenarios here: https://behindtheknife.teachable.com/p/btk-colorectal-surgery-oral-board-review-course Please visit behindtheknife.org to access other high-yield surgical education podcasts, videos and more.
Matt Rank, MD, FAAAAI, the lead author of new guidelines for chronic rhinosinusitis with nasal polyposis, offers tremendous insight regarding these recommendations and how to apply them to clinical care.
Dr Aditi Kumar(1) is joined by Professor Andrew Hopper(2) to discuss the role and importance of endoscopy in patients diagnosed with familial adenomatous polyposis (FAP). Read the article in Frontline Gastroenterology here: https://fg.bmj.com/content/13/e1/e72 (1) Trainee associate editor for Frontline Gastroenterology and gastroenterology trainee in the West Midlands. (2) Consultant Gastroenterologist at the Royal Hallamshire Hospital, Sheffield, UK Listen to our regular podcasts and subscribe in Apple Podcasts, Google Podcasts, Stitcher and Spotify. If you enjoy our podcast, please rate us on your chosen platform, and leave us a review on the Frontline Gastroenterology Podcast page on iTunes: https://podcasts.apple.com/gb/podcast/fg-podcast/id942944229
Learn about the importance of collaboration between pediatric surgery and pediatric gastroenterology through a variety of pediatric polyposis syndromes.
Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.14.516391v1?rss=1 Authors: Abbott, J. C., Nathke, I. S. Abstract: Mutations in the gene encoding the Adenomatous polyposis coli protein (APC) were discovered as driver mutations in colorectal cancers almost 30 years ago. Since then, the importance of APC in normal tissue homeostasis has been confirmed in a plethora of other (model) organisms spanning a large evolutionary space. APC is a multifunctional protein, with roles as a key scaffold protein in complexes involved in diverse signalling pathways, most prominently the Wnt signalling pathway. APC is also a cytoskeletal regulator with direct and indirect links to and impacts on all three major cytoskeletal networks. Here, we interrogate the enormous depth of sequencing data now available to reveal the conservation of APC across taxonomy and relationships between different APC protein families. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC
In this episode, host Dr. Amber Luong speaks with Dr. Amar Miglani. They will discuss article: A comparative analysis of endoscopic sinus surgery versus biologics for treatment of chronic rhinosinusitis with nasal polyposis. Read the article in International Forum of Allergy and Rhinology. Listen and subscribe for free on Apple Podcasts , Google Podcasts and Subscribe on Android.
What in incredible journey Jenny has lived thus far. I had never heard of FAP prior to our conversation so I was very intrigued to learn about it. My guest- Jenny lives with two rare diseases - Familial Adenomatous Polyposis and Short Bowel Syndrome. She lived with an ostomy for 6 years before having it reversed. Due to her medical experiences, Jenny's dedicated her professional and personal time to the chronic illness community and raises awareness about her rare diseases through her blog Life's a Polyp. To celebrate Rare Disease Day, Jenny published her first children's book about FAP - Life's a Polyp with Zeke and Katie. She also raises funds for FAP research through Life's a Polyp Shop. Now through May 15th, 2022, you can make a purchase through her shop and the proceeds will benefit the much-needed research for FAP. Social media handle: @LifesaPolyp Facebook, Twitter, Instagram, Tiktok, Pinterest, Twitch, Youtube, Snapchat http://www.LifesaPolyp.com http://www.cafepress.com/LifesaPolyp https://imaginewellc.com/lifes-a-polyp **************************** Thank you for being here! I would be so truly grateful if you took a minute to RATE*SUBSCRIBE*and REVIEW* the show on your favorite listening platform. My goal is to share these incredible stories of healing and create a Community for those that struggle with a chronic illness or auto immune disease. But I need your help! When you subscribe, rate or review it helps the show get in front of a larger audience. XO AND now you can listen to each episode directly from my WEBSITE! I created a NEW page with each episode and all the details! ------>Check out the guest interviews on my YouTube channel! 123 Momsquad Website: 123Momsquad.com You are AMAZING!! Love to you all! XO Jennie Lynn : ) --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app
What in incredible journey Jenny has lived thus far. I had never heard of FAP prior to our conversation so I was very intrigued to learn about it. My guest- Jenny lives with two rare diseases - Familial Adenomatous Polyposis and Short Bowel Syndrome. She lived with an ostomy for 6 years before having it reversed. Due to her medical experiences, Jenny's dedicated her professional and personal time to the chronic illness community and raises awareness about her rare diseases through her blog Life's a Polyp. To celebrate Rare Disease Day, Jenny published her first children's book about FAP - Life's a Polyp with Zeke and Katie. She also raises funds for FAP research through Life's a Polyp Shop. Now through May 15th, 2022, you can make a purchase through her shop and the proceeds will benefit the much-needed research for FAP. Social media handle: @LifesaPolyp Facebook, Twitter, Instagram, Tiktok, Pinterest, Twitch, Youtube, Snapchat http://www.LifesaPolyp.com http://www.cafepress.com/LifesaPolyp https://imaginewellc.com/lifes-a-polyp **************************** Thank you for being here! I would be so truly grateful if you took a minute to RATE*SUBSCRIBE*and REVIEW* the show on your favorite listening platform. My goal is to share these incredible stories of healing and create a Community for those that struggle with a chronic illness or auto immune disease. But I need your help! When you subscribe, rate or review it helps the show get in front of a larger audience. XO AND now you can listen to each episode directly from my WEBSITE! I created a NEW page with each episode and all the details! ------>Check out the guest interviews on my YouTube channel! 123 Momsquad Website: 123Momsquad.com You are AMAZING!! Love to you all! XO Jennie Lynn : ) --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app
Pauline Gross was a seamstress in 1895 who had seen family members die at an early age from cancer. At the time, one of her clients was a pathologist by the name of Dr Aldred Scott Warthin and confided in him her fear that that this would be her fate too. The two combined to record the most comprehensive family history ever created. Dr Warthin called them ‘Family G’. In the 1960s, Dr Henry T Lynch who revived the search for the members of Family G. Through family gatherings and meetings, he managed to track down over 650 family members, of which, 95 had a history of cancer. He noted that they had an Autosomal Dominant disorder that increased their incidence of uterine and gastrointestinal cancers. Dr Lynch called it a ‘Cancer Family Syndrome’. Today, it is known as Lynch syndrome. Our special guests include: Ami McKay: an award winning novelist who has written ‘Daughter of Family G/Before my time: a memoir of love & fate’. Ami has also produced the radio documentary ‘Daughter of Family G’ available at amimckay.com Dr Tristan Rutland: Anatomical pathologists at Liverpool hospital and based at Western Sydney University with a PhD in colorectcal cancer. Dr Rutland was the recipient of the Konrad Muller RCPA Outstanding Teaching Award Professor Graeme Suthers: National Director of Genetics for Sonic Pathology Australia who trained in clinical and laboratory genetics in Sydney, Adelaide, and Oxford. This is the story of Lynch syndrome.Support the show: https://theadelaideshow.com.au/listen-or-download-the-podcast/adelaide-in-crowd/See omnystudio.com/listener for privacy information.
Biologics in Asthma and Nasal Polyposis: Decision-Making in Practice
Biologics in Asthma and Nasal Polyposis: Decision-Making in Practice
Biologics in Asthma and Nasal Polyposis: Decision-Making in Practice
Biologics in Asthma and Nasal Polyposis: Decision-Making in Practice
Listen as Dr. London Smith (.com) and his producer Cameron discuss Juvenile Polyposis Syndrome on a road trip with special guests Gervis DelVecchio (Frankie Griffin of WizWorldLive) and Sherry the Sheriff (Chase O'Donnell). Not so boring! https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Guests: Frankie Griffin, Chase O'Donnell. Produced by: Dylan Walker Created by: London Smith
Refer to headmirror.com (www.headmirror.com/toc-podcast) to review all podcasts, organized by subspecialty topic and searchable by keywords.
In this episode, I interview Jenny Jones, a fighter of Familial Adenomatous Polyposis and Short Bowel Syndrome. Jenny was diagnosed with the rare, hereditary colon cancer syndrome Familial Adenomatous Polyposis at age 8 and had her first surgery to remove her colon at age 9. After experiencing life-threatening complications, Jenny required 4 more surgeries that year and developed another rare disease - Short Bowel Syndrome as a result. She lived with an ileostomy for 6 years before having it reversed into a Straight Pull Thru and again experienced life-threatening complications. Jenny has been able to surpass all the odds though and went on to earn a Master's Degree and maintains full time employment in addition to her rare disease awareness and advocacy efforts through her blog, Life's a Polyp. Keep up with her advocacy journey! Blog: www.LifesaPolyp.com Youtube: www.Youtube.com/LifesaPolyp Merch Website: www.CafePress.com/LifesaPolyp Social Media Handle: LifesaPolyp --- Support this podcast: https://anchor.fm/theraredisorderpodcast/support
On this episode of "Behind Diagnoses: Patients", a Peer Med Podcast special series we hear from Jenny Jones. She was diagnosed with Familial Adenomatous Polyps (FAP), a hereditary rare disease that causes the development of hundreds to thousands of colon polyps and Short Bowel Syndrome (BSS). She experienced many complications and near death experiences resulting in more surgeries and was left with an ileostomy for 6 years. After a routine scope and consultation with another surgeon, it was decided a straight pull-thru may be an option. At age 15, she had the straight pull-thru surgery and experienced life threatening complications from adhesions that resulted in another surgery for adhesions removal. Her health slowly stabilized over the next 5 years. She was able to graduate with a Masters degree in Social Work, and has maintained full time employment in dialysis, and is enjoying life as well as discovering new challenges for herself everyday. Be sure to subscribe to the Peer Med Podcast on Apple Podcasts, Spotify, Overcast, or wherever you get your podcasts! Follow the Peer Med Podcast on Instagram @peermedpodcast for more patient stories, disease and inspiring eye-opening content! Follow Jenny on Instagram: @lifesapolyp and visit her website: www.lifesapolyp.com
In this episode of Bowel Sounds, hosts Dr. Peter Lu and Dr. Jennifer Lee talk to Dr. Steven Erdman about polyps and hereditary polyposis syndromes in children. Dr. Erdman is a pediatric gastroenterologist at Nationwide Children's Hospital, Professor of Pediatrics at The Ohio State University College of Medicine, and past president of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC). We talk to him about all things related to polyps in children, starting from the humble solitary juvenile polyp to the various polyposis syndromes we can encounter in children, including Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), familial adenomatous polyposis (FAP), and Lynch syndrome. We also talk about his annual month-long houseboat adventures and what led to his passion for caring for children with polyps. 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: Peter LuSupport the show (https://www.naspghan.org/content/87/en/foundation/donate)
Wie entstehen Nasenpolypen bei einer chronischen Rhinosinusitis ? Welche Fallstricke in der Diagnostik und der Standardtherapie sollten vermieden werden? Was versprechen Biologika bei Polyposis nasi und bei welchen Patient*innen kann diese neue Therapieform am meisten bewirken? Prof. Klimek, Wiesbaden, bringt Sie in dieser Episode auf den neuesten Stand der Therapie bei nasalen Polypen.
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
This episode is hosted by Dr. Thomas Slavin (T.J.) and features Dr. Bryson Katona and Dr. Suzanne MacFarland. Dr. Katona is a gastroenterologist at Penn Medicine and Dr. MacFarland is an oncologist in the Children’s Hospital of Philadelphia. Together they discuss their recent publication, “Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant,” published in Cancer Prevention Research and found here: https://pubmed.ncbi.nlm.nih.gov/33097490/ This episode was recorded on January 25, 2021 and reflects expert opinion at the time of the recording.
Katarzyna Pawlak, UEG Journal's social media editor, talks to Elsa Soons (Radboud University Medical Center, The Netherlands) about her recent paper about the endoscopic management of duodenal adenomatosis in familial adenomatous polyposis patients.
Be prepared for some knowledge in this episode exploring the different genetic syndromes associated with colorectal cancer. Great episode to cram before the exam!We will cover:Polyposis syndromes: - FAP (Familial Adenomatous Polyposis)- MAP (MUTYH-Associated Polyposis)- Peutz-Jegher's syndrome- Familial juvenile polyposis- Serrated polyposis- PTEN tumour syndromesNon-polyposis syndromes- HNPCC and Lynch SyndromeDisclaimerThe information in this podcast is intended as a revision aid for the purposes of the General Surgery Fellowship Exam.This information is not to be considered to include any recommendations or medical advice by the author or publisher or any other person. The listener should conduct and rely upon their own independent analysis of the information in this document.The author provides no guarantees or assurances in relation to any connection between the content of this podcast and the general surgical fellowship exam. No responsibility or liability is accepted by the author in relation to the performance of any person in the exam. This podcast is not a substitute for candidates undertaking their own preparations for the exam.To the maximum extent permitted by law, no responsibility or liability is accepted by the author or publisher or any other person as to the adequacy, accuracy, correctness, completeness or reasonableness of this information, including any statements or information provided by third parties and reproduced or referred to in this document. To the maximum extent permitted by law, no responsibility for any errors in or omissions from this document, whether arising out of negligence or otherwise, is accepted.The information contained in this podcast has not been independently verified.© Amanda Nikolic 2021
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
This episode is hosted by Dr. Thomas Slavin (T.J.) and features Dr. Carol Burke, a gastroenterologist at the Cleveland Clinic. They discuss a study of combination therapy to delay disease progression in patients with familial adenomatous polyposis, recently published in The New England Journal of Medicine, found here: https://pubmed.ncbi.nlm.nih.gov/32905675/ This episode was recorded on January 12, 2021 and reflects expert opinion at the time of the recording.
In this podcast, Carol Burke, MD, discusses her team's latest research on treatment options for patients with familial adenomatous polyposis (FAP), how eflornithine plus sulindac affected disease progression over 2 years, and how patients may be able to stave off surgery. More at www.consultant360.com
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
The third episode, hosted by CGA-IGC Council Member Dr. Swati Patel, features Dr. Arne Bleijenberg, who is a research fellow at Amsterdam University Medical Center, and Dr. Evelien Dekker, who is a professor in the Department of Gastroenterology & Hepatology and Gastrointestinal Oncology and the head of the Hereditary Cancer Center at the Amsterdam University Medical Center. They discuss the recently updated World Health Organization Guidelines on diagnosis of Serrated Polyposis Syndrome (SPS) (summarized here https://pubmed.ncbi.nlm.nih.gov/31982410/). Dr. Bleijenberg and Dr. Dekker also discuss their recent publications that shed light on a personalized approach to surveillance in SPS (https://pubmed.ncbi.nlm.nih.gov/30981990/) and long-term outcomes and natural disease course in those with SPS undergoing colonoscopic surveillance (https://pubmed.ncbi.nlm.nih.gov/32360902/). This episode was recorded on July 9, 2020 and reflects expert opinion at the time of the recording.
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Wake Up and Smell the Coffee: Kicking Into Play Novel Treatment Options for Nasal Polyposis
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
The second episode features Dr. Leah Biller, CGA education committee member, who is interviewed by fellow CGA education committee member TJ Slavin. They discuss "A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors", recently published online in Cancer Prevention Research. You can find the article here: https://www.ncbi.nlm.nih.gov/pubmed/32051178 This episode was recorded May 5, 2020 and reflects expert opinion at the time of the recording.
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
Each episode of the 2020 season of the CGA-IGC podcast series will be a short journal club featuring a recently published article of interest to our membership. The first episode features Brandie Heald Leach, former CGA president, who is interviewed by CGA education committee member TJ Slavin. They discuss the CGA-IGC position statement on multi-gene panel testing for hereditary colorectal cancer and polyposis, published online in Familial Cancer on March 14, 2020. You can find the article here: https://www.ncbi.nlm.nih.gov/pubmed/32172433 This episode was recorded April 8, 2020 and reflects expert opinion at the time of the recording.
Pathologystudent.com - Six GI polyposis syndromes
Pathologystudent.com - Six GI polyposis syndromes
This edition has a special focus on the practical management of polyposis syndromes. The highlights of the October issue of Frontline Gastroenterology also include infliximab, chronic diarrhoea in the elderly and gastroenterology training in the UK. Read the UpFront of the July issue of Frontline Gastroenterology and the full issue: fg.bmj.com/content/10/4. The UpFront is available here: https://fg.bmj.com/content/10/4/325.
Expert Approach to Hereditary Gastrointestinal Cancers presented by CGA-IGC
The 2019 season of the CGA-IGC podcast series, Expert Approach to Hereditary Gastrointestinal Cancers, will focus on the management of extra-colonic features of APC-Associated conditions. In the second episode, Dr. Daniel Worthley, an expert in hereditary cancer syndromes from the South Australian Health and Medical Research Institute, tells the tale of how Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) was first recognized and characterized. GAPPS is caused by a mutation in the promotor region of the APC gene and is inherited in an autosomal dominant fashion. This condition is associated with a significantly increased risk of gastric cancer, but unlike FAP, GAPPS is not associated with tumors in the colon or small bowel. Dr. Worthley reviews the characteristics of this rare condition and current approach to management. Note: This episode was recorded on April 23, 2019, and reflects expert opinion at the time of recording. The content of this podcast is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
The Polyposis Syndromes for FRCR 2a
In part 2 of our inherited colorectal cancer series, international polyposis expert Prof. Sue Clark (director of the worlds oldest polyposis registry) discusses FAP with host Mr Peter McDonald. Learn about the underlying genetics and clinical management of this condition. Please subscribe and share!
In this month's Taboo-ty Podcast episode, we interview Jon, a CRC survivor living with Familial Adenomatous Polyposis (FAP). Listen in as Jon shares his story about his FAP diagnosis, his thoughts on FAP and his family, and the importance of finding community and support.
Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis.Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer.This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants.Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation.Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine.Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person.You can also buy the book directly on Amazon. Learn more about the Keiger family on Laura’s website. Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram.Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health, Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.New episodes are released on the first and third Fridays of the month. Can’t wait? There are 94 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.
Hear how surveillance of duodenal polyps in polyposis syndromes has changed and what some of the genetic implications for these may be. With author Yann Parc, and editorial contributors Sue Clark and Josh Tierney.
Familial Adenomatous Polyposis Familial Adenomatous Polyposis, which is abbreviated to FAP, is a genetic condition resulting in a mutation to the Adenomatous Polyposis Coli (APC) gene. The APC is a tumor suppressor gene located on the 5th chromosome. Mutations to this gene result in an increased risk of developing colon and other types of cancers […]
Familial Adenomatous Polyposis Familial Adenomatous Polyposis, which is abbreviated to FAP, is a genetic condition resulting in a mutation to the Adenomatous Polyposis Coli (APC) gene. The APC is a tumor suppressor gene located on the 5th chromosome. Mutations to this gene result in an increased risk of developing colon and other types of cancers […] The post Familial Adenomatous Polyposis – A Genetic Miracle Case Study | PYHP 010 appeared first on Progress Your Health.
Hear about MYH & other polyposis syndromes from international expert James Church talking with Nigel Hall.
Researchers at Children’s Mercy Kansas City are using a multi-pronged research approach to investigate the underlying causes of inherited conditions and possible new treatment options. Dr. Seth Septer and partners are looking into the genotype and phenotype correlations within inherited gastrointestinal syndromes, such as familial adenomatous polyposis, to determine if patients may be at risk for certain type of cancer or a more aggressive form of cancer, depending on their gene mutations. The team has already found success testing orphan drugs against patients tumor cells grown in a dish.Dr. Seth Septer is here to discuss how he and his partners are making advances in hereditary polyposis and other inherited gastrointestinal conditions.
Jon Lund talks to Nick Hurst, consultant colorectal surgeon with a special interest in hereditary colorectal cancers, about HNPCC. Don't forget to download the accompanying podcast on FAP to complete your knowledge of familial bowel cancers This podcast is mapped to the final stage of the ISCP curriculum, and will be very helpful to trainees coming up to FRCS and beyond.
Jon Lund talks to Nick Hurst, Consultant Colorectal Surgeon, with a special interest in familial colon cancer, about FAP.
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.
In Europa sterben jährlich 1.7 Millionen Menschen an Krebs. Flächendeckende Gentests könnten die Krebserkrankungen um die Hälfte reduzieren. Das behauptet der Leiter des deutschen Krebsforschungszentrums Prof.Othmar Wiestler in einer öfffentlich geführten Diskussion und fordert von den Krankenkassen die Übernahme der Kosten von 1000 Euro/Patient. Für Österreich würde die Erbgutanalyse zusätzliche Kosten von 8 Milliarden Euro bedeuten, um etwa 20.000 Krebserkrankungen/Jahr zu verhindern. Billrothhaus-News Experte Univ.-Prof. Dr. Josef Schwarzmeier lehnt diese gewagten Behauptungen entschieden ab. Bei einigen seltenen Krebsformen, die auf Keimbahn-Mutationen beruhen ( z.B. Polyposis coli, einige Formen des Mammakarzinoms) können zusätzliche Gentests in den betroffenen Familien sinnvoll sein. Er spricht sich aber vehement gegen ein flächendeckendes Screening von Gesunden aus, da es seiner Meinung nach derzeit noch keine Gentests gibt, die generell eine Früherkennung von Krebs oder eine Vorhersage des Krebsrisikos erlauben.
Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 06/19
Funktionelle endoskopische Nasennebenhöhlenchirurgie ist mittlerweile als Therapiestandard für konservativ therapierefraktäre chronische Rhinosinusitis (CRS) und Polyposis nasi anzu-sehen. Regelmäßig wird diese Operation mit einer Nasentamponade abgeschlossen, um Schleimhautnachblutungen zu minimieren und die Wundheilung zu unterstützen. Sowohl das Tragen der Tamponade als auch die Detamponade sind für den Patienten oft wenig komforta-bel und in einigen Fällen äußerst schmerzhaft. Ziel der vorliegenden Arbeit war es, eine moderne Nasentamponade aus Carboxymethylcellu-lose, das RapidRhino® Sinu-knit™, hinsichtlich ihrer Eigenschaften in Bezug auf die Blu-tungskontrolle, Beeinflussung der Wundheilung, Nebenwirkungen und den Tragekomfort für die Patienten zu untersuchen. In einer teilweise doppelblinden, randomisierten, kontrollierten prospektiven klinischen Un-tersuchung wurden n=21 Patienten einer beidseitigen funktionellen endoskopischen Nasenne-benhöhlenoperation unterzogen. Die Operation fand in Übereinstimmung mit den Regeln der Grazer Schule statt. Nach Aufklärung und mit dem Einverständnis der Patienten erfolgte prä-operativ die Zulosung der Seite der CMC-Tamponade. Zum Abschluss der Operation wurde das Carboxymethylcellulose-Netz auf die Operationswunde aufgebracht und mit 6 ml sterilem Aqua hydrolysiert. Die entsprechend andere Seite verblieb ohne Tamponade. Am ersten postoperativen Tag wurden die Patienten von einem an der Operation unbeteiligten Stationsarzt unter Zuhilfenahme einer visuellen Analogskala (0-10) nach jeweils seitenspezi-fischer Nasenatmungsbehinderung, Sekretion, lokalen Schmerzen, Kopfschmerzen sowie Schlafstörung und Gesamtbefinden befragt, ohne die tamponierte Seite zu kennen. Darüber hinaus erfolgte jeweils zwei Wochen, vier Wochen und drei Monate post-OP eine Nachsorge-untersuchung durch den Operateur, bei der die Merkmale endoskopisch sichtbare Tamponade, Nachblutung, Krustenbildung, Schleimhautstatus, Verwachsungen, Bildung von Granulati-onsgewebe und Infektion untersucht und dokumentiert wurden. Das mittlere Patientenalter betrug 49 Jahre, 33% der Patienten waren weiblich. Die Operati-onsindikation stellte bei 15 Patienten eine Polyposis nasi, bei 5 Patienten eine chronische Rhinosinusitis und bei einem Patienten eine akute Rhinosinusitis dar. Bei 86% der Patienten war das operative Vorgehen seitenidentisch. 11mal wurde die rechte OP-Seite tamponiert, 10mal die linke. Eine Beeinflussung der postoperativen Blutungen durch die Carboxymethylcellulose war nicht nachzuweisen; es fanden sich hierbei sowohl kurz- als auch mittelfristig keine Seitenun-terschiede. Bei der Interpretation dieser Ergebnisse ist kritisch zu hinterfragen, in wieweit bei insgesamt sehr geringer Nachblutung eine Tamponade nach funktioneller endoskopischer Nasennebenhöhlenchirurgie zur Blutungskontrolle überhaupt notwendig ist. Sichere Aussagen über hämostatische Effekte von CMC lassen sich anhand der hier gewonnen Erkenntnisse nicht treffen. Nebenwirkungen oder Komplikationen bei der Verwendung von CMC als mo-derne Nasentamponade traten nicht auf. Die mit CMC tamponierte Seite zeigte im Vergleich zur Gegenseite in keinem der untersuchten Parameter Unterschiede hinsichtlich der Wundhei-lung oder Krustenbildung, womit weder eine positive noch eine negative Beeinflussung zu zeigen war. Der Einsatz von CMC besitzt hinsichtlich des Tragekomforts die gleichen Eigen-schaften wie "keine Nasentamponade". Damit ist der Patientenkomfort - besonders auch im Vergleich zu anderen Tamponaden - als ausgezeichnet einzustufen. Zur abschließenden Beurteilung der Anwendung von CMC als moderne Nasentamponade sind weitere Untersuchungen notwendig. Eine interessante Option könnte der Einsatz von CMC in ihrer Gelform als Trägersubstanz für diverse Pharmaka darstellen.
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