Alteration in the nucleotide sequence of a genome
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On today’s episode, I am speaking with Betty Dicker. Betty was diagnosed with a BRCA2…
Nels and Vincent take apart an amazing symbiosis consisting of two bacteria, one bacteriophage, and seven different genomes all within a single-celled alga. Hosts: Nels Elde and Vincent Racaniello Subscribe (free): Apple Podcasts, Google Podcasts, RSS, email Become a patron of TWiEVO Links for this episode •Join the MicrobeTV Discord server •A single crowded cryptomonad cell (Curr Biol) •Letters read on TWiEVO 94 Science Picks Nels – What happened at NIH during the last government shutdown Vincent – Geneticist J. Craig Venter: ‘I consider retirement tantamount to death' Music on TWiEVO is performed by Trampled by Turtles Send your evolution questions and comments to twievo@microbe.tv
durée : 00:04:59 - Avec sciences - par : Alexandra Delbot - Le molnupiravir est une molécule antivirale commercialisée par les laboratoires Merck qui empêche le SARS-COV-2 de se multiplier en ciblant son génome. Une nouvelle étude révèle que depuis sa commercialisation, les séquences virales de patients présentent davantage de mutations. - invités : Anne Goffard Médecin, virologue au CHU de Lille et enseignante à la faculté de Pharmacie de Lille
Genetic screening is recommended when a specific cancer appears to run in a family. BRCA and Lynch syndrome are two conditions, that when inherited, predispose someone to developing a number of different cancers. BRCA 1 and BRCA 2 are tumour suppressor genes. When they function normally they stop cells in the breast, ovary and other tissues from dividing too rapidly and also repair errors that happen when cells do divide. Mutations in these genes result in a higher risk of developing cancer of ovary and breast. Lynch syndrome predisposes to a number of cancers - most commonly colon, uterine and ovarian cancer. Lynch syndrome arises due to errors in a process called mismatch repair. Mismatch repair is a process of DNA repair that typically involves four different genes.
The latest vaccines are designed to target XBB.1.5, the dominant variant throughout much of 2023—until now. Read this story here. Learn more about your ad choices. Visit megaphone.fm/adchoices
In this week's episode, we'll discuss the findings from the final analysis of the CLL2-GIVe trial, learn how NOTCH2 mutants promote resistance to chemotherapy in diffuse large B-cell lymphoma, and discuss the role of DBY/HLA class II complexes in chronic graft-versus-host disease.
Bean Corcoran, and Will Corcoran. Mother and son.I met Bean Corcoran when we were doing a science and innovation campaign, and we became friends! I learned a little bit about her son Will, who has CF. Bean is very involved in the CF community. She is the President of the CFF Connecticut Chapter and the Bridge of Hope Communications Director volunteer. We did a podcast in the past about the Bridge of Hope and what they do, so feel free to go back and listen to that if you want to find out more. She is also a Patient Family Partner and Quality Improvement Leader on the Pediatric CF Care team at Columbia Presbyterian Hospital in New York City since 2017. Bean is also an artist who paints endangered animals in oils and works in pottery. Bean and her husband live with their dog Rosie.Today we're talking about Bean and her son Will. Will cannot take the CF modulator, and we discuss what it does to you mentally and physically. Will is 26-years old and lives in Chicago. Will was diagnosed with CF at 3 months old, received a liver transplant at age 15, and is unable to benefit from modulators due to his mutations. Will does four breathing treatments a day, rarely has more than two weeks without antibiotics, and battles hemoptysis. Will has been seen at five different CF centers. He is also an advocate. He works on family advisory boards, speaks with younger CFers, and currently sits on the Adult Advisory Council for the CFF. Will enjoys time outside with his dog Stanley, watching Philadelphia sports, and works as a fundraiser for an environmentally focused non-profit.I am grateful for Bean, (which is her nickname) and to her son Will for being so honest about how CF has impacted their lives.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website: https://thebonnellfoundation.orgBonnell Foundation email: thebonnellfoundation@gmail.comThanks to our sponsors:Vertex: https://www.vrtx.comGenentech: https://www.gene.comViatris: https://www.viatris.com/en
A new editorial paper was published in Oncotarget's Volume 14 on May 26, 2023, entitled, “Latest updates on MET targeted therapy for EXON 14 mutations in lung cancer.” In their new editorial, researchers Mira Al Jaberi, Wolfgang Clough and Samir Dalia from Mercy Hospital discuss the MET gene. Several alterations in the MET gene were identified as targetable oncogenic changes leading to non-small cell lung cancer (NSCLC). These include genomic amplifications, exon 14 skipping mutations and fusion. Capmatinib has been considered as a first-line treatment for patients with NSCLC carrying a MET exon 14 skipping mutation since May 2020 by the USFDA. A study newly published in early 2023 showed that Crizotinib, a tyrosine kinase inhibitor, was also effective for MET fusions, which occur rarely in 0.2–0.3% of patients with lung cancer. A major challenge arising after the introduction of tyrosine kinase inhibitors is limited clinical benefit, which is due to primary and potential secondary acquired drug resistance. “A major challenge arising after the introduction of tyrosine kinase inhibitors is limited clinical benefit, which is due to primary and potential secondary acquired drug resistance [4, 5].” Several structurally different MET tyrosine kinase inhibitors (TKIs) have been developed or are under clinical evaluation. TKIs are categorized into type I TKIs (type Ia: crizotinib; type Ib: savolitinib, capmatinib) and type II TKIs (cabozantinib, glesatinib, merestinib). Combination therapy reduces resistance and enhances clinical outcomes. “These clinical trials along with others will show us if other MET inhibitors or combination therapy may be better than the current standard of care.” DOI - https://doi.org/10.18632/oncotarget.28419 Correspondence to - Samir Dalia - samir.dalia@mercy.net Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28419 Subscribe for free publication alerts from Oncotarget - https://www.oncotarget.com/subscribe/ Keywords - cancer, non small cell lung cancer, MET mutation, targeted therapy, precision medicine About Oncotarget Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science. To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: SoundCloud - https://soundcloud.com/oncotarget Facebook - https://www.facebook.com/Oncotarget/ Twitter - https://twitter.com/oncotarget Instagram - https://www.instagram.com/oncotargetjrnl/ YouTube - https://www.youtube.com/@OncotargetJournal LinkedIn - https://www.linkedin.com/company/oncotarget Pinterest - https://www.pinterest.com/oncotarget/ Reddit - https://www.reddit.com/user/Oncotarget/ Media Contact MEDIA@IMPACTJOURNALS.COM 18009220957
Today Laura Carfang is joined with Amy Gallagher, who discusses her decision to have a prophylactic double mastectomy due to her positive BRCA1 mutation. Amy shares her personal journey with breast and ovarian cancer in her family, highlighting the importance of genetic testing and raising awareness about the potential for inherited mutations on the paternal side.The episode concludes with an inspirational discussion about Amy's role as the executive director of Firefly Sisterhood, a non-profit organization dedicated to supporting individuals diagnosed with breast cancer.Topics Discussed:00:04:57 Importance of genetic testing00:17:04 Open communication with family and children00:22:08 Support for breast cancer patients.00:23:44 Supporting breast cancer patients through personalized mentorship.00:28:21 Support for breast cancer patients.Follow us on InstagramLaura and Will: https://www.instagram.com/laura_and_will/SurvivingBreastCancer.org: https://www.instagram.com/survivingbreastcancerorg/About Amy GallagherExecutive Director, Amy Gallagher, comes to Firefly Sisterhood in April 2021 with a deep connection to the mission of helping women diagnosed with breast cancer. Having an extensive family history of breast and ovarian cancer, Amy was prompted to be tested for genetic mutation in the BRCA1 gene which came back positive. In June 2017, Amy opted to have a prophylactic bilateral mastectomy to reduce her chance of developing breast cancer.Amy has an extensive background in health and wellness non-profit work, especially those that help people diagnosed with cancer. She has strengths in event project management and logistics, volunteer and committee planning, fundraising and development and organizational strategic planning.Having spent the last five years working alongside volunteers within breast cancer organizations, Amy understands the importance of the connections formed at Firefly Sisterhood. Ensuring that women have the support when they need it most is what motivates her every day.+++++++++++++++++++++SBC's Mission: To empower those diagnosed with breast cancer and their families from day one and beyond. About SurvivingBreastCancer.org.:SurvivingBreastCancer.org, Inc. (SBC) is a Federally recognized 501(c)(3) non-profit virtual platform headquartered in Boston with a national and global reach. Through education, community, and resources, SurvivingBreastCancer.org supports women and men going through breast cancer. We provide a sanctuary of strength, compassion, and empowerment, where those diagnosed with cancer unite to share their stories, learn invaluable coping strategies to manage wellness and mental health, and find solace in the unbreakable bond that fuels hope, resilience, and the courage to conquer adversity.Website:https://www.survivingbreastcancer.org/Events:https://www.survivingbreastcancer.org/eventsDonate NowPlease consider making a donation.https://www.survivingbreastcancer.org/donate-nowSupport the show
durée : 00:57:40 - Cultures Monde - par : Julie Gacon, Mélanie Chalandon - Depuis son arrivée à la tête des États-Unis, Joe Biden affiche ses ambitions de verdir l'industrie automobile américaine. Si certains États suivent le mouvement, d'autres envisagent de résister à cet élan. Malgré le succès mondial de Tesla, l'Amérique peine à passer à l'électrique. - invités : Bernard Jullien Maître de conférence en économie à l'Université de Bordeaux et directeur du Gerpisa (Groupe d'Etude et de Recherche Permanent sur l'Industrie et les Salariés de l'Automobile); Ian Greer Directeur de recherches à la Cornell's School of Industrial and Labor Relations
durée : 01:59:19 - Les Matins du samedi - par : Quentin Lafay - .
The September 2023 Neurology Recall showcases five dynamic interviews about ALS. The episode begins with a discussion about the strategic plan for ALS from the NINDS with Dr. Walter Korshetz. This episode features conversations with Drs. Ruben P.A. van Eijk-3 and Jordi van Unnik on simulation based interim analysis of ALS clinical trials followed by an interview with Dr. Emily Plowman on respiratory strength training (RST) programs in individuals with ALS. The episode continues with an interview with Dr. Suma Babu on the approved treatment for ALS associated with a mutation in the SOD1 gene. This month's Recall concludes with a conversation with Dr. Ajay Sampat on his story of being a neurologist diagnosed with ALS. Related Articles: Development and Evaluation of a Simulation-Based Algorithm to Optimize the Planning of Interim Analyses for Clinical Trials in ALS Respiratory Strength Training in Amyotrophic Lateral Sclerosis FDA Approves Treatment of Amyotrophic Lateral Sclerosis Associated With a Mutation in the SOD1 Gene Related Podcast: The ALS Strategic Plan from NINDS Simulation-Based Planning of ALS Trials Respiratory Strength Training in ALS FDA Approved Therapy for SOD1 Associated ALS A Neurologist's Experience as a Patient with ALS Visit NPUb.org/Podcast for associated article links.
durée : 00:09:21 - L'invité de 7h50 - par : Sonia Devillers - Frédéric Brunnquell publie "Le bûcher des illusions" (Albin Michel), portraits de la "petite classe moyenne" en France. Il était l'invité de Sonia Devillers, mardi 29 août.
Could we one day customize our own bodies? Author and podcast host Jordan Griffin joins Speculative Sandbox to talk about gene-editing. How close are we to science fiction? We break down the science, including CRISPR technology, genetically-modified foods, and the ethical concerns of human experimentation. Speculative Sandbox is for entertainment purposes only. This is a volunteer-run program. Opinions expressed by individuals on the podcast are their own. Main cover art illustrated by Sofia Hansson Individual episode covers feature royalty-free photography from Pexels.com or Canva. Links: Guest form Merch store Curated episode playlists on Spotify Social media: Follow on Instagram Follow on Tik Tok Follow on Twitter
I discuss my experiences translating "The Revolution of Promises" by Nelson Rodriguez Chartrand. (Send feeback to erik@mathmutation.com)
Humanity has evolved in the face of much hardship and turmoil, and invented technologies to aid us, but could an end to hardships be our undoing and cause us to devolve?Go to the link: https://imprintapp.com/isaacarthur - The first 200 subscribers get 20% off an annual membershipVisit our Website: http://www.isaacarthur.netJoin Nebula: https://go.nebula.tv/isaacarthurSupport us on Patreon: https://www.patreon.com/IsaacArthurSupport us on Subscribestar: https://www.subscribestar.com/isaac-arthurFacebook Group: https://www.facebook.com/groups/1583992725237264/Reddit: https://www.reddit.com/r/IsaacArthur/Twitter: https://twitter.com/Isaac_A_Arthur on Twitter and RT our future content.SFIA Discord Server: https://discord.gg/53GAShECredits:Human Devolution: Morlocks & C.H.U.D.s Episode 409, August 24, 2023Written, Produced & Narrated by:Isaac ArthurEditors:Jerry GuernDonagh BroderickDavid McFarlaneMusic Courtesy of:Epidemic Sound http://epidemicsound.com/creatorSergey Cheremisinov, "Labyrinth", "Forgotten Stars"See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Humanity has evolved in the face of much hardship and turmoil, and invented technologies to aid us, but could an end to hardships be our undoing and cause us to devolve?Go to the link: https://imprintapp.com/isaacarthur - The first 200 subscribers get 20% off an annual membershipVisit our Website: http://www.isaacarthur.netJoin Nebula: https://go.nebula.tv/isaacarthurSupport us on Patreon: https://www.patreon.com/IsaacArthurSupport us on Subscribestar: https://www.subscribestar.com/isaac-arthurFacebook Group: https://www.facebook.com/groups/1583992725237264/Reddit: https://www.reddit.com/r/IsaacArthur/Twitter: https://twitter.com/Isaac_A_Arthur on Twitter and RT our future content.SFIA Discord Server: https://discord.gg/53GAShECredits:Human Devolution: Morlocks & C.H.U.D.s Episode 409, August 24, 2023Written, Produced & Narrated by:Isaac ArthurEditors:Jerry GuernDonagh BroderickDavid McFarlaneSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Tom and Jenny discuss a lesser-known British scifi horror from 1974, directed by Jack Cardiff and starring Donald Pleasence and Tom Baker. It’s a mad scientist tale partially inspired by Tod Browning’s Freaks. Audio version: Video version: Please support us on Patreon! Don't forget to subscribe to our YouTube channel, like us on Facebook, and follow us on Twitter and Instagram. … Continue reading Movie Time: The Mutations (aka The Freakmaker) (1974)
Du 22 au 24 août 2023, se tient à Johannesbourg le sommet annuel des Brics… Brics, acronyme anglais pour Brésil, Russie, Inde, Chine et Afrique du Sud. Sa création remonte à la première décennie des années 2000 comme une sorte d'alternative à l'hégémonie américaine et à l'unipolarité et ce sentiment profond qui unit ces cinq pays d'avoir été maintenus à la périphérie des affaires politiques du monde par les puissances occidentales. Les seuls BRICS pèsent désormais davantage que les membres du G7 dans l'économie mondiale, la Chine y étant pour une bonne part.Le sommet de Johannesbourg s'inscrit dans le contexte tendu de la guerre d'Ukraine et des sanctions qui pèsent sur la Russie, de rivalité sino-américaine prononcée, d'affirmation de l'Inde voire d'émergence sur la scène mondiale, du retour de Lula à Brasilia sur fond de volonté de faire du Brésil une puissance régionale forte, enfin d'alliance russo-chinoise, dont il n'est pas toujours facile de mesurer la profondeur. L'ordre mondial post-guerre froide continue de se désorganiser, la puissance se diffuse. Nombreux sont les candidats à une intégration au sein des BRICS, économique et politique. Invités : Julien Vercueil, professeur d'Économie et vice-président de l'Institut National des Langues et Civilisations Orientales, l'INALCO. « Les pays émergents. Brésil-Russie-Inde-Chine. Mutations économiques. Crises et nouveaux défis », éd. Bréal et « Économie politique de la Russie », Seuil. Coll. Points Thierry Vircoulon, chercheur associé à l'IFRI. « Les sanctions économiques contre la Russie » Revue Esprit juillet 2023 Alexandre Kateb, économiste, fondateur du cabinet de prospective « The Multipolarity Report ». « Les nouvelles puissances mondiales. Pourquoi les BRICS changent le monde », éd. Ellipses. « Les économies arabes en mouvement », éd. De Boeck.
00:00 - 45:33 - Nocturama 45:33 - 1:02:25 - Malcolm in the Middle 1:02:25 - 1:11:02 - e-mails this week, we're joined by the managing editor of The Film Stage and the greatest interviewer in the biz, Nick Newman ( @nick_newman ), to talk about Bertrand Bonello's stylish and strange terrorist thriller, Nocturama. we get into Nick's work with Bonello, Nocturama's postmodern touches, a killer soundtrack and the best mise-en-scene a department store has seen this century. then, on MiTM (45:33), Malcolm checks out Shattered Glass for a dose of that Billy Ray Feeling. Nick praises the star-studded conspiracy film Winter Kills, JT checks out the freaks in Jack Cardiff's The Mutations, and Eddie talks about the prescient, psychotic, and evil comedy Observe and Report. lastly, some quick cameos by a couple returning champions in the e-mail segment… sign up at https://www.patreon.com/extended_clip for a weekly bonus episode. it's good for you.
Evolution versus creationism is the internal Christian argument which doesn't go away. We recorded an episode last year exploring this knotty problem and how believers might go about trying to debate it respectfully even if they disagree. We look at the age of the Earth, common descent, natural selection, and the historicity of Adam, Eve and the Fall, to try and shed some light on this murky issue. - Subscribe to the Matters of Life and Death podcast: https://pod.link/1509923173 - If you want to go deeper into some of the topics we discuss, visit John's website: http://www.johnwyatt.com - For more resources to help you explore faith and the big questions, visit: http://www.premierunbelievable.com
Mutation spotted! Evolve, you cheeky monkey!
AP correspondent Jennifer King reports on Cyprus Cat Virus-covid medication
Comet fever runs wild and city sewers should be off-limits! Look, comets can be exciting, I get that. But it just seems that it should go without saying that avoiding sewers is a good policy. Welcome to 1984.Maybe everyone wanting to see the comet in Night of the Comet (1984) shouldn't be quite so eager? Unless you want to wake up as a pile of dust and clothes. Or some mutated zombie, and somehow not a pile of dust. Of course, if you were sleeping in a steel-reinforced projection booth, you're probably fine to go on living in this apocalyptic place.And city streets seemed bad enough in the 80s. So, I can only assume that the sewers were even worse. C.H.U.D. (1984) seems to verify that. There are some kind of weird mutants down there. Radioactive waste. And come on, the smell cannot be particularly inviting.The Summer of the 80s oozes on! And hey! Don't forget the Common Craig's Top 5 horror movies from 1984!
Dr. Richard Webby, faculty member at St Jude Children's Research Hospital and global expert on influenza viruses, joins Drs. Mike Brasher, Karen Waldrop, and DU staff for a look back on the 2022 Avian Flu outbreak. In this science-heavy episode we ask where it came from, is it here to stay, and what can we expect going forward? We also learn why it is showing up in mammals and what this means for our pets. Also, will mutations increase the human health risk and are waterfowl hunters at higher risk?www.ducks.org/DUPodcast
A new MP3 sermon from Answers in Genesis Ministries is now available on SermonAudio with the following details: Title: Mutations—Driving Evolution? Subtitle: Answers with Ken Ham Speaker: Ken Ham Broadcaster: Answers in Genesis Ministries Event: Radio Broadcast Date: 7/26/2023 Length: 1 min.
Mutations are changes in genetic information that already exists. Mutations don't create brand-new, genetic information.
[THE ART-KNOLOGY SHOW] Please
Your dog has trillions of cells, each one containing DNA with about 19,000 genes. Every day, cells die and are replaced by new ones after copying their genetic material… and sometimes those copies include mistakes. Charlotte Hacker has a deep love of genetics, and explains the basics of how genetics work and how mutations can occur. Not all of these mistakes are harmful, but a mutation in the wrong spot or a buildup of multiple mutations can lead to cancer. Listen now to learn about proto-oncogenes, tumor suppressor genes, why bigger dogs are more likely to get cancer, and how you can help support the health of your dog's DNA. Links Mentioned in Today's Show: Genetic Mutations and Dog Cancer: An Overview (article) https://www.dogcancer.com/articles/stats-and-facts/genetic-mutations-and-dog-cancer/ Related Links: Genetics in Canine Cancer article SearchLight DNA Can Find Your Dog's Cancer Genotype podcast episode Sunshine for Dogs article Chapters: 0:00 Start 3:48 Genetics 101 7:14 Mutation is a Change 11:52 Causes of Spontaneous Mutations 16:10 Oncogenes 18:58 Tumor Suppressor Genes 21:40 Preventing Mutations About Today's Guest, Dr. Charlotte Hacker: Dr. Charlotte Hacker graduated with her Masters in 2015 studying animal welfare and behavior, and her Doctorate in 2021 with a focus on the use of molecular genetic approaches to study at-risk wildlife. A conservation biologist by vocation, Charlotte's love for all things animals started with a love for dogs. Her research interests are multifaced and include mammalian genetics, international conservation science policy, and human-animal relations. Dr. Hacker is passionate about writing, science communication, and improving the livelihoods of humans and the animals they share space with. Her hobbies include yoga, hiking, watching documentaries, and traveling. She is based in Washington, D.C., with her rescue miniature dachshund, Nittany. LinkedIn Other Links: If you would like to ask a dog cancer related question for one of our expert veterinarians to answer on a future Q&A episode, call our Listener Line at 808-868-3200. Dog Cancer News is a free weekly newsletter that contains useful information designed to help your dog with cancer. To sign up, please visit DogCancerNews.com Learn more about your ad choices. Visit megaphone.fm/adchoices
Nels and Vincent explain a study of how interspecies competition between two algae influences evolution of metabolism and size. Hosts: Nels Elde and Vincent Racaniello Subscribe (free): Apple Podcasts, Google Podcasts, RSS, email Become a patron of TWiEVO Links for this episode •Join the MicrobeTV Discord server • Metabolic evolution during competition (Curr Biol) Science Picks Nels – How amino acids got their names (Source) Vincent – EVs Fix One Pollution Problem—And Worsen Another Music on TWiEVO is performed by Trampled by Turtles Send your evolution questions and comments to twievo@microbe.tv
Our first segment focuses on the history of socialism and science fiction (SF) in the early to mid-20th century United States, in particular the novels of George Allan England and the Popular Front SF of the Michelists in the 1930s and 1940s. Our second segment discusses the efforts of organizers in the Carbondale Assembly for Radical Equity (CARE) to help trans and queer persons — targeted by the recent wave of oppressive legislation in states like Florida, Texas, and elsewhere — relocate to the relative safety of Carbondale, Illinois. Guests in this episode: Sean Cashbaugh, a postdoctoral lecturer in the Princeton Writing Program and author of “A Paradoxical, Discrepant, and Mutant Marxism: The Emergence of Radical Science Fiction in the American Popular Front,” in the Journal for the Study of Radicalism. Cassandra Coffey, “a forty-year-old transfeminine nonbinary anarcho-communist redneck from Kentucky who has spent the past several years involved in queer liberation action and grassroots organization for causes that promote equity, emancipation, and challenge unjust authority.” Joe Shapiro, associate professor of English literature at Southern Illinois University in Carbondale and author of The Illiberal Imagination: Class and the Rise of the U.S. Novel (University of Virginia Press, 2017). Mattie Stearns, “a nonbinary libertarian socialist J20 defendant, organizing in Carbondale for about ten years, and life-long resident of Carbondale. They are going to school to become a venture socialist. They are a general trouble-maker.” You can reach out to CARE at carbondalecare@proton.me or by messaging the CARE Facebook page. You can donate to CARE by making a donation on the Carbondale Rainbow Cafe website and writing “CARE” in the memo box. Or you can send a check by mail to Rainbow Cafe, 118 N. Illinois Avenue, Carbondale, IL 62901, and write “CARE” in the memo line. This episode's opening reading is “Cogita's Plan,” from the “Stink Ape Resurrection Primer” forthcoming in Locust Review 10. Music featured in this episode includes Melissa Carper, Mike Watt and the Secondmissingmen, and Omnia Sol. Locust Radio is a project of the Locust Arts and Letters Collective. It is hosted by Tish Turl, Laura Fair-Schulz, and Adam Turl. It is produced by Alexander Billet, Omnia Sol, and Adam Turl.
The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.
A new case report was published in Oncotarget's Volume 14 on July 7, 2023, entitled, “Intrathoracic synovial sarcoma with BRAF V600E mutation.” Synovial sarcoma (SS) is a highly malignant mesenchymal tumor that occurs mainly in adolescents and young adults. The treatment of SS is multimodal, involving surgery, radiotherapy and chemotherapy. The overall prognosis is generally quite satisfactory in children and adolescents with localized SS at diagnosis. However, the outcome remains poor for patients who relapse, with a reported 5-year post-relapse survival of around 30%. In this new paper, researchers Ida Russo, Sabina Barresi, Pier Luigi Di Paolo, Valentina Di Ruscio, Giada Del Baldo, Annalisa Serra, Silvia Vallese, Evelina Miele, Angela Mastronuzzi, Rita Alaggio, Andrea Ferrari, and Giuseppe Maria Milano from Italy's Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) report the case of a 15-year-old boy with intrathoracic synovial sarcoma who relapsed after standard chemotherapy, surgery and radiotherapy. The molecular analysis of the tumor identified a BRAF V600E mutation at time of progression of relapsed disease under third line systemic treatment. This mutation is commonly seen in melanomas and papillary thyroid cancers, but less prevalent (typically
Nels and Vincent discuss new findings using phylogenetic approaches about how complex eukaryotic cells emerged from prokaryotic ancestors, which firmly place eukaryotes as a clade nested within the Asgard archaea. Hosts: Nels Elde and Vincent RacanielloS Subscribe (free): Apple Podcasts, Google Podcasts, RSS, email Become a patron of TWiEVO Links for this episode •Join the MicrobeTV Discord server •Heimdallarchaeial ancestry of eukaryotes (Nature) Science Picks Nels – Juneteenth issue of Cell – collection of essays from black and brown scientists Vincent – Tara Oceans Music on TWiEVO is performed by Trampled by Turtles Send your evolution questions and comments to twievo@microbe.tv
The Immeasurable Podcast highlights a fifteen-part series from Ojai recorded in 1980 where J. Krishnamurti spoke with David Bohm about the ending of time. You can visit Pine Cottage where this conversation took place, and where Krishnamurti lived and passed away, during visiting hours at the Krishnamurti Library in Ojai, CA. Visit kfa.org for details.J. Krishnamurti & David Bohm - Ojai 1980 - Dialogue 6: Can Insight Bring About a Mutation of the Brain Cells?Series: The Ending of TimeIs there a totally different way of approaching the whole turmoil of life?As long as the center is creating darkness, and thought is operating in that darkness, there must be disorder, there must be everything as society now is. To move away from that you must have insight.Insight can only come about when there is a flash which abolishes not only the darkness but the creator of darkness.Human beings have been acting according to one pattern, responding to hatred by hatred and so on. There are those few, perhaps many, who did not. Why has this division taken place?The man who is living in darkness can move away at any time to the other. That is the point: at any time.What happens to a mind that has no conflict?For more information about J. Krishnamurti and the Krishnamurti foundations:International Site - http://www.jkrishnamurti.org/Facebook - https://www.facebook.com/jk.krishnamurtiKrishnamurti Foundation Trust, UK - http://www.kfoundation.org/Krishnamurti Foundation of America - http://www.kfa.org/Krishnamurti Foundation of India - http://www.kfionline.org/Fundación Krishnamurti Latinoamericana - http://www.fkla.org/© 1980 Krishnamurti Foundation of America Support the show
Alien Art - Mutation (Modus Remix) Mutation Remixed - Iboga Records http://musicshop.iboga.dk/store/view_release?release=1868 IBOGADIGITAL842 1. Alien Art - Mutation (Modus Remix) 2. Alien Art - Mutation (Burn In Noise Remix) And now it is time for the next space travel towards our final destination: The debut Alien Art album coming in 2024. After two massive singles in which Yoni (Ace Ventura) & Reshef (Captain Hook) presented the vision for their new project, it is time for two interpretations to the first single Mutation. Navigating we have two super talented artists, Burn in Noise & Modus, who deliver two super psychedelic tunes, each in their own distinctive style. Yoni Oshrat,Reshef Harari 2023 Iboga Records Iboga Records Publishing,Iboga Records Publishing
Alien Art - Mutation (Burn In Noise Remix) Mutation Remixed - Iboga Records http://musicshop.iboga.dk/store/view_release?release=1868 IBOGADIGITAL842 1. Alien Art - Mutation (Modus Remix) 2. Alien Art - Mutation (Burn In Noise Remix) And now it is time for the next space travel towards our final destination: The debut Alien Art album coming in 2024. After two massive singles in which Yoni (Ace Ventura) & Reshef (Captain Hook) presented the vision for their new project, it is time for two interpretations to the first single Mutation. Navigating we have two super talented artists, Burn in Noise & Modus, who deliver two super psychedelic tunes, each in their own distinctive style. Yoni Oshrat,Reshef Harari 2023 Iboga Records Iboga Records Publishing,Iboga Records Publishing
Three people. Ever. That's how many have been cured of HIV. We visited one of them to learn about the extraordinarily rare (and risky) treatment — and to find out if it can, even indirectly, lead to a true cure for 40 million more.
The emerging RNA therapy is designed to boost expression of the PRPF31 protein
Dr Rob discusses a fundamental aspect of neo-Darwinism (Fisher's Theorem of Natural Selection) and how it fails mathematically. First postulated in 1930, Fisher's idea was promoted as something as firm and settled as the 2nd Law. Problem is, he made several incorrect assumptions that invalidate the whole thing. When you add realistic mutations to the scenario (e.g., Basener and Sanford's 'Fisher's Theorem of Natural Selection with Mutations'), you see that the net trajectory of evolution is downward. Why did it take 90 years to figure this out? Links: Basener and Sanford 2017 The fundamental theorem of natural selection with mutations Basener et al. 2021 Dynamical Systems and Fitness Maximization in Evolutionary Biology Keightley and Lynch 2003 Toward a realistic model of mutations affecting fitness Price 1972 Fisher's 'fundamental theorem' made clear Fisher 1930 The Genetical Theory of Natural Selection (Wikipedia page) Carter 2020 A successful decade for Mendel's Accountant
Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.
TFS is back and Season 4 kicks off with a guest whose story will touch everyone's hearts. Kristina Coccoluto learned at a very young age how the “Big C” can impact a family. Her courage, strength, and perseverance propelled her into a journey that would not only help prevent history repeating itself personally - but also lead to research and inspiration to women everywhere. Follow Kristina: https://www.instagram.com/kmcoccoluto/ Follow Thirty Flirty Surviving: https://www.instagram.com/thirtyflirtysurviving/
Have you used the logical method known as "proof by intimidation"? (Send feeback to erik@mathmutation.com)
KSQD 6-14-2023: More about the oral microbiome, including toothpaste advice; The benefits and scientific studies supporting oral oil pulling to clean the mouth; The MUTYH mutation causes lots of colon polyps, raising the risks of colon cancer; A story of trying to obtain an inhaler drug paid for by health insurance; California is trying to pass a law to reduce the burden of prior authorizations required by insurance companies; Questions about thyroid problems -- what are the most natural medicines? Are tastier home-growing vegetables healthier as well? What are the health conditions in which Vitamin C and glutathione infusions have shown effectiveness? Urinary incontinence support for women
Scientific Evidence for Intelligent Design, How Mutations Fail To Invent and The Remarkable Coincidences in Photosynthesis. ACU Sunday Series. Stephen Meyer Investigates Scientific Evidence for Intelligent Design (Lecture 1) Michael Behe Exposes How Mutations Fail To Invent Michael Denton Remarkable Coincidences in Photosynthesis Stephen Meyer Investigates Scientific Evidence for Intelligent Design (Lecture 1) https://youtu.be/C5Z6h_RVhIw Discovery Science Visit https://www.discoveryu.org/courses/meyer for the full course. For the first time, you can have living room access to over seven hours of teaching by intelligent design pioneer Stephen Meyer in a brand-new online course. A favorite of students young and old(er), Meyer will delight both as he explores the scientific evidence for intelligent design (ID) found in physics, cosmology, biology and the chemical origin of life. Join Stephen as he investigates the scientific evidence for intelligent design in the origin of life, the development of biological complexity, and physics and cosmology. In 42 short video lectures, Meyer explores the scientific basis for the theory of intelligent design—the idea that key features of life and the universe are best explained as the product of an intelligent cause rather than an unguided process. In this course, Meyer will guide you through the major concepts and information presented in his path breaking books Signature in the Cell and Darwin's Doubt, as well as previewing some of the material about physics and cosmology in his book The Return of the God Hypothesis. Each video lecture is accompanied by a short quiz, and a special digital certificate of completion is offered for those who finish the course. For more about the course visit https://www.discoveryu.org/courses/meyer. Check out these videos as well: Information Enigma: Where does information come from? https://youtu.be/aA-FcnLsF1g Michael Behe Investigates Evolution & Intelligent Design (Lecture 1) https://youtu.be/XCTTy0ylf7A Stephen Meyer Shatters The Myth Of The Multiverse (Science Uprising EP4) https://youtu.be/WR51OrawqIg ============================ The Discovery Science News Channel is the official Youtube channel of Discovery Institute's Center for Science & Culture. The CSC is the institutional hub for scientists, educators, and inquiring minds who think that nature supplies compelling evidence of intelligent design. The CSC supports research, sponsors educational programs, defends free speech, and produce articles, books, and multimedia content. For more information visit https://www.discovery.org/id/ http://www.evolutionnews.org/ http://www.intelligentdesign.org/ Follow us on Facebook and Twitter: Twitter: @discoverycsc Facebook: https://www.facebook.com/discoverycsc/ Visit other Youtube channels connected to the Center for Science & Culture Discovery Institute: https://www.youtube.com/user/Discover... Dr. Stephen C. Meyer: https://www.youtube.com/user/DrStephe... The Magician's Twin - CS Lewis & Evolution: https://www.youtube.com/user/cslewisweb Darwin's Heretic - Alfred Russel Wallce: https://www.youtube.com/user/AlfredRW... Course Overview Join philosopher of science Stephen Meyer as he investigates the scientific evidence for intelligent design in the origin of life, the development of biological complexity, and physics and cosmology. In 42 short video lectures, Meyer explores the scientific basis for the theory of intelligent design—the idea that key features of life and the universe are best explained as the product of an intelligent cause rather than an unguided process. In this course, Meyer will guide you through the major concepts and information presented in his pathbreaking books Signature in the Cell and Darwin's Doubt, as well as previewing some of the material about physics and cosmology in his book The Return of the God Hypothesis. Each video lecture is accompanied by a short quiz, and a special digital certificate of completion is offered for those who finish the course. About the Professor Stephen C. Meyer received his PhD from the University of Cambridge in the history and philosophy of science. A former geophysicist with ARCO and professor of philosophy at Whitworth University, he currently directs the Center for Science and Culture at the Discovery Institute in Seattle. He is author of the New York Times-bestseller Darwin's Doubt (2013) as well as Signature in the Cell (2009) and The Return of the God Hypothesis (forthcoming in 2021). Recommended Texts and Resources You are encouraged to dig deeper into the topics explored in this course by consulting the following books and resources: Signature in the Cell: DNA and the Evidence for Intelligent Design (book) Darwin's Doubt: The Explosive Origin of Animal Life and the Case for Intelligent Design (book) Debating Darwin's Doubt (book) Signature of Controversy: Responses to Critics of Signature in the Cell (book) Explore Evolution: The Arguments for and against Neo-Darwinism (book) The Return of the God Hypothesis (book) DarwinsDoubt.com (website) The Information Enigma (video) The Intelligent Design Collection—Darwin's Dilemma, The Privileged Planet, Unlocking the Mystery of Life (videos) Course Outline Unit 1: Evidence of Intelligent Design in the Origin of Life Introduction to Course. What is intelligent design, and why is it controversial? In this first lecture, Meyer introduces the topic of intelligent design. Darwin's Challenge to Intelligent Design. What does evolution mean? Meyer explains adaptation and explains how Darwin's theory challenges the idea of intelligent design. Theories of the Origin of Life in the Nineteenth Century. Darwin conceived of the origin of life happening possibly in a “warm little pond.” Meyer explains the state of origin of life research at Darwin's time and later. Oparin's Theory of the Origin of Life. Meyer delves into Alexsandr Oparin's theory on the origin of life, put forward in 1936. Learn about evolutionary abiogenesis and the experiment that sought to prove it. The Amazing Complexity of Proteins. What do proteins look like? How has science progressed in its understanding of these basic building blocks of life? Meyer traces the work of protein scientists in the 1930s up through the 50s. What is the importance of a protein's shape? And how is this shape determined? The Role of DNA. How did our understanding of the cell change in the 1950s and 60s? Meyer discusses the discovery of the stable double helix structure of DNA and the key scientists involved. The DNA Enigma. Meyer examines Francis Crick's sequence hypothesis and then goes on to delve into the question of code and biological information, explaining what he calls “the DNA enigma.” What Kind of Information Does DNA Contain? Meyer explores types of information, explains mathematical Shannon information, and discusses what kind of information Francis Crick, Richard Dawkins, and Bill Gates see in life's code. Explanations for the Origin of Life: Chance. Could the information in the cell come about by chance? Today, learn the history of origin of life research from the 1950s to the present. What is prebiotic soup, anyway? Explanations for the Origin of Life: Self-Organization. Can self-organization explain the origin of biological information? In this lesson, learn about Dean Kenyon and his idea of ‘biochemical predestination' of amino acids. How does DNA fit into this whole picture? 2 Explanations for the Origin of Life: Pre-Biotic Natural Selection. What is prebiotic natural selection? Listen in as Dr. Meyer examines Oparin's hypothesis and modern attempts to reconcile evolution with the origin of life. Introduction to Intelligent Design. Meyer recounts his introduction to the design hypothesis and his quest to shape it into a rigorous scientific argument as he explores historical science methods. Objections to Intelligent Design: Is Intelligent Design Science? Meyer responds to a key philosophical objection to intelligent design. Objections to Intelligent Design: Argument from Ignorance? Some critics claim design proponents make an argument from ignorance. Is this true? Meyer discusses the intelligent designer of the gaps objection and illustrates why it is not applicable. Objections to Intelligent Design: RNA World, pt 1. Is it possible to avoid the cell's chicken and egg problem? Listen in as Meyer discusses the RNA world scenario. Can genetic information and biochemically relevant functions be present without either DNA or protein? Objections to Intelligent Design: RNA World, pt. 2. Can the RNA world scenario overcome the information problem? Listen in as Dr. Meyer analyzes this popular proposal. Objections to Intelligent Design: RNA World, pt. 3. Have scientific developments “overtaken Meyer's book” as Stephen Fletcher claims? Listen in as Meyer examines Fletcher's supposed evidence. Objections to Intelligent Design: Junk DNA. Critics claim that junk DNA disproves intelligent design. Meyer takes on this objection. Unit 2: Evidence of Intelligent Design in the Development of Life Another Information Problem in the History of Life. Is the origin of life the main problem with the materialistic evolutionary account of origins? Meyer delves into the modern evolutionary synthesis. Is information a problem here too? The Cambrian Explosion. What does the fossil record reveal about life's history? Meyer discusses how Darwin found the Cambrian explosion particularly striking and puzzling. The Mystery of the Missing Fossils: The Burgess Shale. Darwin tried to propose an explanation for the mystery of the missing fossils. But have later discoveries confirmed his predictions? Meyer introduces a 1909 discovery – the Burgess Shale. The Mystery of the Missing Fossils: The Chenjiang Fauna. Meyer details a fossil find with great diversity: the Cambrian era Chenjiang fauna. 3 What Does It Take to Build an Animal? Meyer discusses the process of how to get a Cambrian animal. Challenges to the Neo-Darwinian Mechanism: Combinatorial Searches, pt. 1. What does combinatorial search mean? And how would the neo-Darwinian mechanism produce the new genetic information needed to build new animals? Challenges to the Neo-Darwinian Mechanism: Combinatorial Searches, pt. 2. How hard is it to get a new protein? Meyer does the math, further examining the efficacy of the neo-Darwinian synthesis. Challenges to the Neo-Darwinian Mechanism: Developmental Mutations and Gene Regulatory Networks. It's a catch-22: random mutation and organism development. Meyer gets beyond the numbers and uncovers the challenges posed for NeoDarwinism by developmental mutations and developmental gene regulatory networks. Challenges to the Neo-Darwinian Mechanism: Information beyond DNA. Do protein folds and developmental gene regulatory networks pose the biggest problems to Neo-Darwinism? Meyer discusses a third devastating challenge to evolution. He also discusses new evolutionary theories proposed to overcome it. The Positive Case for Intelligent Design, pt. 1. Can one make a positive case for intelligent design using accepted methods of reasoning? Meyer examines inductive, deductive and abductive reasoning, and lays out what intelligent design proponents need to demonstrate to make a strong case for design. The Positive Case for Intelligent Design, pt. 2. Meyer applies historical scientific methods to evaluate potential causes of the Cambrian explosion. The Positive Case for Intelligent Design, pt. 3. Meyer discusses genetic algorithm computer programs, the reason why the random mutation/natural selection mechanism is doomed, and why intelligence uniquely can account for functional information. Responding to Critics: Charles Marshall. Paleontologist Charles Marshall challenged Meyer's arguments in Darwin's Doubt, and here Meyer responds. Response to Critics: Dennis Venema and Deborah Haarsma. Meyer evaluates an objection to his book from theistic evolutionists Dennis Venema and Deborah Haarsma. Can evolution's mechanism of natural selection acting on random mutations account for new protein folds? And what does the evolution of nylonase demonstrate? Responding to Critics: Lawrence Krauss and Richard Dawkins. Meyer responds to atheists Lawrence Krauss and Richard Dawkins. 4 Who Is the Designer? Who is the designing intelligence? Was it an alien? Or a transcendent being? Meyer addresses this question, distinguishing between evidence from biology that merely points to mind, and separate evidence that may shed light on the identity of the designer. Unit 3: Evidence of Intelligent Design in Physics and Cosmology One Man's Journey. Meyer recounts the story of an astronomer's journey from atheism to intelligent design. What do the stars reveal? What Is Fine-Tuning? Meyer discusses the laws and constants of physics, highlighting striking examples of fine-tuning. How Do We Recognize Design? Meyer discusses William Dembski's theory of design inferences, and applies that to fine-tuning. Weak Anthropic Principle and Natural Law. Meyer gives an overview of the weak anthropic principle and natural law as explanations for fine-tuning. The Multiverse, pt. 1. Meyer describes a popular explanation for fine-tuning and the two cosmological models physicists employ. The Multiverse, pt. 2. Meyer analyzes the multiverse theory. How does it stack up against intelligent design? The Multiverse, pt. 3. Meyer delves deeper into universe generating mechanisms and what they require. Who Is the Designer? In this final video lecture, Stephen Meyer shares his thoughts on this important question. Michael Behe Exposes How Mutations Fail To Invent (Science Uprising EP6) https://youtu.be/_ivgQFIST1g Discovery Science Are chance mutations really “the key to our evolution” like they claim in the X-Men films? Or are there strict limits to what mutations can accomplish, limits that point to the need for an overarching designer and the failure of Darwinian evolution to create fundamentally new things? Be sure to visit https://scienceuprising.com/ to find more videos and explore related articles and books. In this episode of Science Uprising, we'll take a look at the real evidence for the supposed powerhouse of evolution. The featured expert is biochemist Michael Behe of Lehigh University, author of the books Darwin's Black Box, The Edge of Evolution, and Darwin Devolves. Well-known scientists have been preaching a materialistic worldview rather than presenting the public with all the evidence. We are here to change that. The objective scientific evidence does not prove our universe is blind and purposeless. It does not show we are simply meat machines. It does not prove that evolutionary mechanisms can completely account for the diversity of life on earth. This is what THEY want you to think. Think for yourself and make an informed decision. Are you ready? The uprising has begun. In a lecture, Phillip Johnson cited physicist Richard Feynman on a scientist's obligation to be honest — not only with himself or in other scientific contexts but, not one bit less, when speaking to the lay public. “You should not fool the laymen when you're talking as a scientist.” That such a thing would need to be said is itself revealing. What's more, Feynman insisted, you should “bend over backwards to show how you may be wrong.” The comments are taken from a Commencement address by Feynman in 1974 at Caltech. Johnson, a founding father of modern intelligent design, was so moved by this that he said “I wish it could be set to music.” As far as I know it hasn't been set to music. But the idea is a major theme in the new Science Uprising series. Scientists fool themselves and they fool non-scientists, not about dry technical details with no special significance, but about matters that bear on huge, life-altering world picture issues. One example is the role of mutations in evolution. That is the topic of Episode 6 of Science Uprising, “Mutations: Failure to Invent.” It's out now; see it here: The Alternative Perspective The idea that random genetic mutations lead to wondrous, creative innovations is so influential that it forms the premise of a movie franchise, X-Men, that has grossed $6 billion worldwide over the past couple of decades. That's a lot of “fooling the laymen”! The alternative perspective would be open to the possibility of creative evolution requiring intelligence guidance. The producers of the X-Men movies aren't scientists. However, the science media have done their best to mislead about the work of real scientists, including National Academy of Sciences member Richard Lenski. We're all victims of that hype, including Hollywood moviemakers. Dismantling the hype about Lenski occupies biochemist Michael Behe for a significant part of his recent book, Darwin Devolves. Super-Challenges Not Super-Powers As Professor Behe explains in Science Uprising, the Long-Term Evolution Experiment conducted by Lenski has demonstrated not the creative power of unguided evolution but the occasional benefits of devolution, of breaking or disabling genes. That's the opposite lesson from the one drawn by media such as the New York Times in reporting on Lenski's efforts. “Think about it,” says the masked narrator of Science Uprising, against the backdrop of poignant images of people suffering from genetic illnesses, “significant mutations don't create superpowers. They create super-challenges. Sometimes those mutations are even life-threatening.” Check out some of our other videos: Information Enigma: Where does information come from? Information drives the development of life. But what is the source of that information? https://youtu.be/aA-FcnLsF1g Science Uprising Episode 1 - Reality: Real vs. Material Has science proven we are all just matter? Or does reality extend beyond what we can see and touch? https://youtu.be/Fv3c7DWuqpM Bijan Nemati: Rare Earth https://youtu.be/vn3YpOWCrc4 Check out other videos from this playlist: https://www.youtube.com/playlist?list... Subscribe to our channel: https://www.youtube.com/user/Discover... Michael Denton Remarkable Coincidences in Photosynthesis -- ID The Future Podcast https://youtu.be/12i2RKct5RM Discovery Science On this episode of ID the Future, we listen in on a few minutes from a lecture given by CSC Senior Fellow Michael Denton. We've all heard of the importance of photosynthesis as an oxygen creating process. In this segment, Denton explains the “remarkable set of coincidences” which makes the creation of oxygen through photosynthesis possible. From the specific energy of visible light to the unique properties of water, this degree of improbability screams DESIGN. For more and to download this episode go to: https://www.discovery.org/multimedia/... For more on how the cosmos is designed for life, watch Discovery Institute's documentary Priviledged Species, featuring Michael Denton, at http://privilegedspecies.com/. The ID The Future (IDTF) podcast carries on Discovery Institute's mission of exploring the issues central to evolution and intelligent design. IDTF is a short podcast providing you with the most current news and views on evolution and ID. IDTF delivers brief interviews with key scientists and scholars developing the theory of ID, as well as insightful commentary from Discovery Institute senior fellows and staff on the scientific, educational and legal aspects of the debate. You've heard the hype, now learn the truth. Subscribe to the podcast Intelligent Design: The Future. Exploring issues central to the case for intelligent design from the Big Bang to the bacterial flagellum and beyond. https://itunes.apple.com/us/podcast/i... ============================ The Discovery Science News Channel is the official Youtube channel of Discovery Institute's Center for Science & Culture. The CSC is the institutional hub for scientists, educators, and inquiring minds who think that nature supplies compelling evidence of intelligent design. The CSC supports research, sponsors educational programs, defends free speech, and produce articles, books, and multimedia content. For more information visit https://www.discovery.org/id/ http://www.evolutionnews.org/ http://www.intelligentdesign.org/ Follow us on Facebook and Twitter: Twitter: @discoverycsc Facebook: https://www.facebook.com/discoverycsc/ Visit other Youtube channels connected to the Center for Science & Culture Discovery Institute: https://www.youtube.com/user/Discover... Dr. Stephen C. Meyer: https://www.youtube.com/user/DrStephe... The Magician's Twin - CS Lewis & Evolution: https://www.youtube.com/user/cslewisweb Darwin's Heretic - Alfred Russel Wallce: https://www.youtube.com/user/AlfredRW...
CardioNerds (Drs. Amit Goyal and Dan Ambinder) join Dr. Mina Fares, Dr. Johannes Bergehr, and Dr. Christina Peter from Cambridge University Hospitals in the UK. They discuss a case involving a man man in his 40's presented with progressive heart failure symptoms. He has extensive background cardiac history including prior episodes of myocarditis and complete heart block status post permanent pacemaker implantation. Ultimately a diagnosis of Danon disease is made. Dr. Sharon Wilson provides the E-CPR for this episode. Audio editing by CardioNerds Academy Intern, Hirsh Elhence. CardioNerds is collaborating with Radcliffe Cardiology and US Cardiology Review journal (USC) for a ‘call for cases', with the intention to co-publish high impact cardiovascular case reports, subject to double-blind peer review. Case Reports that are accepted in USC journal and published as the version of record (VOR), will also be indexed in Scopus and the Directory of Open Access Journals (DOAJ). CardioNerds Case Reports PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll CardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron! Case Summary - A Presentation of Heart Failure and Heart Block with Elusive Genetic Origins - Cambridge University A man in his 40s with a history of cardiac issues, including prior myocarditis and complete heart block, presented with progressive heart failure symptoms. Extensive cardiac investigations were conducted, revealing dilated left ventricle, mild to moderate left ventricular systolic dysfunction, normal coronaries, infero-lateral late gadolinium enhancement on cardiac MRI, and low-level uptake on PET-CT. Differential diagnosis included worsening underlying cardiomyopathy, recurrent myocarditis, tachycardia-related cardiomyopathy, pacemaker-induced LV dysfunction, and sarcoidosis. The patient's condition improved with heart failure medications, and cardiac MRI showed a mildly dilated left ventricle with moderate systolic dysfunction and active inflammation in the anterior wall. Further evaluation indicated a family history of hereditary cardiomyopathy, and the patient exhibited phenotypic features such as early-onset heart disease, arrhythmias, family history of cardiomyopathy, learning problems, intellectual disability, and mild proximal myopathy. Genetic testing confirmed a LAMP2 mutation, leading to the diagnosis of Danon disease. Case Media - A Presentation of Heart Failure and Heart Block with Elusive Genetic Origins - Cambridge University Show Notes -A Presentation of Heart Failure and Heart Block with Elusive Genetic Origins - Cambridge University References - Danon, M. J., Oh, S. J., DiMauro, S., Miranda, A., De Vivo, D. C., & Rowland, L. P. (1981). Lysosomal glycogen storage disease with normal acid maltase. Neurology, 31(1), 51-7. Nishino, I., Fu, J., Tanji, K., Nonaka, I., & Ozawa, T. (2000). Mutations in the gene encoding LAMP2 cause Danon disease. Nature, 406(6798), 906-10. Tanaka, K., Nishino, I., Nonaka, I., Fu, J., & Ozawa, T. (2000). Danon disease is caused by mutations in the gene encoding LAMP2, a lysosomal membrane protein. Nature, 406(6798), 902-6. Maron, B. J., Haas, T. S., Ackerman, M. J., Ahluwalia, A., Spirito, P., Nishino, I., ... & Seidman, C. E. (2009). Hypertrophic cardiomyopathy and sudden death in a family with Danon disease. JAMA, 301(12), 1253-9. Hashem, S., Zhang, J., Zhang, Y., Wang, H., Zhang, H., Liu, L., ... & Wang, J. (2015). AAV-mediated gene transfer of LAMP2 improves cardiac function in Danon disease mice. Stem cells, 33(11), 2343-2350. Chi, L., Wang, H., Zhang, J., Zhang, Y., Liu, L., Wang, J., ... & Hashem, S. (2019). CRISPR/Cas9-mediated gene editing of LAMP2 in patient-derived iPSCs ameliorates Danon disease phenotypes.