Podcasts about Fanconi

In this week's episode we'll discuss outcomes following hematopoietic stem cell transplantation in pediatric patients with Fanconi anemia. Then, we'll learn about how new research shows that the transcription factor Foxo1, commonly associated with glucose metabolism, regulates hepcidin expression and systemic iron homeostasis. Finally, in Latin America: using clinical networks to improve outcomes in patients with acute promyelocytic leukemia. After clinical networks were established, survival and relapse rates improved substantially, highlighting the effectiveness of this unique intervention strategy in low- and middle-income countries.Featured Articles: Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemiaFoxo1 is an iron-responsive transcriptional factor regulating systemic iron homeostasisClinical networking results in continuous improvement of the outcome of patients with acute promyelocyticleukemia

Listen as Dr. London Smith (.com) and his producer Cameron discuss Polyarteritis Nodosa as they share how to plan the ultimate 4th of July Bash. Not so boring! https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Produced by: Dylan Walker Created by: London Smith

Der Präsident der Graubündner Kantonalbank Peter Fanconi tritt vorzeitig zurück – auf März 2025. Das gab die Bank heute im Rahmen der Halbjahreszahlen bekannt. Wegen seiner Nähe zum österreichischen Milliardär René Benko geriet Peter Fanconi zuletzt in die Kritik. Weitere Themen: * Nino Schurter trägt Schweizer Fahne an Olympischen Spielen in Paris * Grossbrand in Altstadt von Konstanz (D) * Fliegende Kühe im Alpstein

BUFFALO, NY- July 19, 2024 – A new #editorial paper was #published in Oncotarget's Volume 15 on July 2, 2024, entitled, “DDX41 and its unique contribution to myeloid leukemogenesis.” In this new editorial, researcher Hirotaka Matsui from the National Cancer Center Hospital in Tokyo, Japan, and Kumamoto University discusses myeloid neoplasms. Until the early 2000s, myeloid neoplasms attributable to genetic backgrounds were considered exceedingly rare, with notable exceptions limited to those arising as components of systemic syndromes such as Fanconi anemia and Li-Fraumeni syndrome. Historically, no hematopoietic-specific tumor syndromes had been identified until 1999, when RUNX1 was implicated as the causative gene for familial platelet disorder with a predisposition to acute myeloid leukemia (AML). Subsequently, in 2004, CEBPA was recognized as another critical gene responsible for inherited AML. The subsequent advent and widespread application of comprehensive genetic analysis facilitated the identification of germline pathogenic variants in genes such as ANKRD26, ETV6, and GATA2 among patients with myeloid neoplasms that developed against a background of inherited thrombocytopenia or systemic disorders. It is now established that genetic predisposition is present in approximately 10% of myeloid neoplasms, underscoring the fact that myeloid neoplasms with a genetic background are by no means exceptional. “Among these, myeloid neoplasms caused by DDX41 variants are particularly noteworthy due to their distinct disease phenotype and pathogenesis [2].” DOI - https://doi.org/10.18632/oncotarget.28603 Correspondence to - Hirotaka Matsui - hmatsui@ncc.go.jp Video short - https://www.youtube.com/watch?v=AQXIdS1amhM Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28603 Subscribe for free publication alerts from Oncotarget - https://www.oncotarget.com/subscribe/ Keywords - cancer, acute myeloid leukemia, DDX41, myelodysplastic neoplasms, myeloid neoplasms with germline predisposition, R-loop 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. Oncotarget is indexed and archived by PubMed/Medline, PubMed Central, Scopus, EMBASE, META (Chan Zuckerberg Initiative) (2018-2022), and Dimensions (Digital Science). To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: Facebook - https://www.facebook.com/Oncotarget/ X - 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/ Spotify - https://open.spotify.com/show/0gRwT6BqYWJzxzmjPJwtVh MEDIA@IMPACTJOURNALS.COM

Die Graubündner Kantonalbank sorgte in den letzten Wochen für Schlagzeilen rund um den 60-Millionen-Kredit, den die Bank der Signa-Gruppe René Benko gewährte. Das sei heikel, so die Vorwürfe. Heute erklärte sich GKB-Präsident Peter Fanconi vor den Partizipantinnen und Partizipanten. Weitere Themen: * Stadtpolizei St. Gallen neu mit Blaulicht und Sirenen an E-Bikes * Bundesrätin Elisabeth Baume-Schneider als Ehrengast an Landsgemeinde Appenzell * Jägerschaft soll Wildhut Glarus bei Wolfsabschüssen unterstützen * Empa entwickelt PFAS-freien Stoff, der wasserabweisend ist

Die St. Galler Stadtpolizei hat ab sofort Blaulicht und Sirenen an ihren E-Bikes. Die Polizistinnen und Polizisten sind so sichtbarer und besser hörbar. In der Stadt Zürich sind die Velos bereits seit einem Jahr entsprechend ausgerüstet. Welche Erfahrungen damit gemacht wurden. Weitere Themen: * Bundesrätin Elisabeth Baume-Schneider als Ehrengast an der Landsgemeinde Appenzell * Jägerschaft soll Wildhut Glarus bei Wolfsabschüssen helfen * Empa entwickelt PFAS-freien Stoff, der wasserabweisend ist * GKB-Partizipationsversammlung: Präsident Fanconi entschuldigt sich vor Investoren

Der Bankrat der GKB hat eine externe Untersuchung im Zusammenhang mit dem Pleitier René Benko in Auftrag gegeben. Im Fokus stehen dabei mögliche problematische Kreditvergaben. Die Rolle von Bankratspräsident Peter Fanconi müsse rasch klar werden, finden Bündner Parteien von links bis rechts. Weitere Themen: * Santa Maria hofft nach Nationalratsentscheid auf eine neue Chance für die Realisierung einer Ortsumfahrung. * Die Rechnung 2023 des Kantons Graubünden schliesst mit einem kräftigen Plus.

Dr Hiroki Hanafusa presents the unusual case of a woman who was initially diagnosed with Fanconi Syndrome and later found to have Lysinuric Protein Intolerance. Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman Hiroaki Hanafusa, et al https://doi.org/10.1002/jmd2.12392

In this episode, host Alyssa Watson, DVM, is joined by Candice P. Chu, DVM, PhD, DACVP, to talk about her recent Clinician's Brief article, Top 3 Conditions Missed by Skipping Urinalysis. Dr. Chu discusses the most common reasons veterinarians skip this vital diagnostic step and how to perform in-house urinalysis both more efficiently and accurately. She also covers the importance of urinalysis in diagnosing subclinical bacteriuria, Fanconi syndrome, and proteinuria. Dr. Chu reveals a potential contaminant commonly found in veterinary clinics that may impact the accuracy of “tabletop” urine samples.Resources:https://www.cliniciansbrief.com/article/urinalysis-proteinuria-glucosuria-fanconi-syndrome-subclinical-bacteriuria-dogs-catshttps://www.cliniciansbrief.com/article/urinalysis-error-veterinary-medicine-sample-test-resultshttps://www.cliniciansbrief.com/article/management-subclinical-bacteriuriaContact us:Podcast@briefmedia.comWhere to find us:Youtube.com/@clinicians_briefCliniciansbrief.com/podcastsFacebook.com/cliniciansbriefTwitter: @cliniciansbriefInstagram: @clinicians.briefThe Team:Alyssa Watson, DVM - HostAlexis Ussery - Producer & Multimedia Specialist

L'année 2023 s'achève aujourd'hui. L'occasion pour moi de vous offrir une rétrospective de 8 épisodes diffusés au cours de l'année. Ces épisodes m'ont marqué pour des raisons différentes mais ils ont en commun de m'avoir énormément inspirés. Julia Virat (épisode 24) a fait de son hypersensibilité une force qui lui a permis de devenir une des rares femmes guide de haute montagne, de parvenir à gravir El Capitan en solo et de devenir navigatrice. Romain Courcier (épisode 25), ancien opérateur du 1er RPIMA, a puisé en lui et dans l'amour de ses proches la force nécessaire pour survivre à son incarcération injustifiée dans des geôles dominicaines. Il a refusé une libération par le suicide et, assoiffé de justice, a combattu jusqu'à retrouver sa vraie liberté. Atteint de la maladie de Fanconi, Christophe Bichet (épisode 26) a déjoué les pronostics des médecins qui avait annoncé qu'il ne verrait pas l'âge adulte. Non seulement il l'a atteint, mais il a fondé une famille et est devenu l'un des meilleurs escaladeurs français. Cyrille Chaboune (épisode 28), opérateur du CPA 10, a perdu ses deux jambes en combattant Daech en Irak. Il aurait pu plonger dans la dépression et le renoncement mais sa force morale lui a permis de choisir le mouvement et, notamment, de préparer les JO de 2024 au sein de l'équipe de France de volleyball assis. Orianne Aymard (épisode 29) a failli perde la vie lors d'un accident cérébral. Cette expérience la conduira à enchaîner les exploits comme l'ascension du Lhotse puis de l'Everest en mai 2023. Lors d'une opération en Afghanistan, Ephraim Mattos (épisode 30) - alors opérateur au sein des Navy Seals – se trouve contraint de mettre en joue deux petites filles portant des sacs explosifs. Heureusement il n'aura pas à appuyer sur la détente. Cette expérience lui révélera sa vocation, celle de protéger et sauver les civils en zones de guerre au travers de son organisation « Stronghold rescue and relief ». Après une longue carrière d'infirmier au sein des forces spéciales, Adrien Jimenez (épisode 31) devient expert en psychologie positive, méditation de pleine conscience et cohérence cardiaque. Son témoignage éclairé révèle comment ces pratiques peuvent alimenter la résilience. Et last but not least, Loïc Blanchard (épisode 32) est un modèle d'énergie et d'inspiration au travers de son désormais célèbre podcast "Les Frappés".Quel bonheur de recevoir et de partager ces témoignages riches d'enseignements et de valeurs morales. Je sais que vous vous en nourrissez autant que moi et je m'en réjouis. Cela me donne la force et l'envie de continuer cette magnifique aventure. Merci pour votre fidélité et votre soutien. 

Je vous propose aujourd'hui un extrait de mon entretien avec Christophe Bichet (épisode 26), qui est la personnalisation même de la fortitude, la résilience à l'état pur.A l'âge de 4 ans, on annonce à ses parents qu'il est atteint d'une maladie génétique rare : la maladie de Fanconi . En quelques mots, cela signifie qu'il est vulnérable à toutes les infections, toutes les maladies et toutes les blessures. Son espérance de vie est alors limitée à 15 ans.Mais c'était sans compter la véritable espérance : celle de ses parents tout d'abord, qui ont continué à vivre presque normalement sans rien s'interdire, sans rien lui interdire. C'est ainsi qu'après avoir été diagnostiqué à 4 ans…il découvre l'escalade à 6 ans et rien ne l'arrêtera par la suite. Pas la greffe de moelle osseuse, pas les cancers à répétition ni même son apparente fragilité, puisqu'il ne mesure que 1m50.Aujourd'hui âgé de 38 ans et père de famille, Christophe est l'un des meilleurs escaladeurs français et un conférencier à succès. Christophe nous explique que c'est l'action qui l'a sauvé. L'action de grimper, l'action d'aider les autres, l'action de fonder une famille, l'action d'avoir des projets, toujours et encore. Il a rencontré d'autres malades comme lui dans le monde entier. Seuls ont survécu ceux qui avaient des projets et étaient dans l'action. Tous les autres, centrés sur leur condition et leur maladie, sont morts. Tous sans exception.Son témoignage fait écho à ceux de Victor Frankl, rescapé des camps nazis ou Alexandre Soljenitsyne, rescapé du goulag soviétique : c'est avoir quelque chose à construire, à donner, à partager qui alimente la résilience et notre capacité à subir.Ma rencontre avec Christophe et cet épisode m'ont fait tellement de bien. Quand je pense à lui, je souris. Vous comprendrez quand vous l'aurez écouté.Références:Site de Christophe Bichet Man's Search For Meaning: The classic tribute to hope from the Holocaust, Viktor Frankl (éditions Rider)L'archipel du Goulag , Alexandre Sljenistsyne (éditions Points)Ils avaient tout compris, Nicolas Lisimachio  (éditions Hachette)

When Laurie Strongin's son Henry was born with the rare, often fatal disease of Fanconi anemia, doctors told her that the best way to save his life was with an umbilical cord blood transplant from a genetically matched sibling. But Henry had no matching siblings. Laurie and her husband then got a call from a doctor with a novel idea of combining three technologies to create a child who was guaranteed to be a genetic match, raising the question: is it ethical to create a life in order to save another? Show Notes: In addition to Laurie Strongin, this episode features interviews with: John Wagner, Co-Leader of the Transplantation and Cellular Therapy Program, Professor in the Division of Transplant and Cell Therapy in the Department of Pediatrics, and the McKnight-Presidential Endowed Chair, Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Jeffrey Kahn, Andreas C. Dracopolous Director of the Johns Hopkins Berman Institute of Bioethics You can learn more about Fanconi anemia, learn about the latest research, and find resources for those affected by the disease here. You can read more about the Strongin-Goldbergs' and the Nashes' stories in this New York Times article from 2001.  Laurie Strongin went on to found the Hope for Henry Foundation, which works with hospitals to help provide support and better care for pediatric patients. To learn more about the ethics issues raised in this episode, visit the Berman Institute's episode guide.   The Greenwall Foundation seeks to make bioethics integral to decisions in health care, policy, and research. Learn more at greenwall.org.  See omnystudio.com/listener for privacy information.

When Laurie Strongin's son Henry was born with the rare, often fatal disease of Fanconi anemia, doctors told her that the best way to save his life was with an umbilical cord blood transplant from a genetically matched sibling. But Henry had no matching siblings. Laurie and her husband then got a call from a doctor with a novel idea of combining three technologies to create a child who was guaranteed to be a genetic match, raising the question: is it ethical to create a life in order to save another? Show Notes: In addition to Laurie Strongin, this episode features interviews with: John Wagner, Co-Leader of the Transplantation and Cellular Therapy Program, Professor in the Division of Transplant and Cell Therapy in the Department of Pediatrics, and the McKnight-Presidential Endowed Chair, Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Jeffrey Kahn, Andreas C. Dracopolous Director of the Johns Hopkins Berman Institute of Bioethics You can learn more about Fanconi anemia, learn about the latest research, and find resources for those affected by the disease here. You can read more about the Strongin-Goldbergs' and the Nashes' stories in this New York Times article from 2001.  Laurie Strongin went on to found the Hope for Henry Foundation, which works with hospitals to help provide support and better care for pediatric patients. To learn more about the ethics issues raised in this episode, visit the Berman Institute's episode guide.   The Greenwall Foundation seeks to make bioethics integral to decisions in health care, policy, and research. Learn more at greenwall.org.  See omnystudio.com/listener for privacy information.

In this episode, we review the high-yield topic of ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Fanconi Syndrome⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠from the Renal 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

Vous voulez savoir ce que signifie anti-fragile ? Christophe Bichet, c'est ni plus ni moins que 30 années de fortitude, de résilience à l'état pur.A l'âge de 4 ans, on annonce à ses parents qu'il est atteint d'une maladie génétique rare : la maladie de Fanconi . En quelques mots, cela signifie qu'il est vulnérable à toutes les infections, toutes les maladies et toutes les blessures. Son espérance de vie est alors limitée à 15 ans.Mais c'était sans compter la véritable espérance : celle de ses parents tout d'abord, qui ont continué à vivre presque normalement sans rien s'interdire, sans rien lui interdire. C'est ainsi qu'après avoir été diagnostiqué à 4 ans…il découvre l'escalade à 6 ans et rien ne l'arrêtera par la suite. Pas la greffe de moelle osseuse, pas les cancers à répétition ni même son apparente fragilité, puisqu'il ne mesure que 1m50.Aujourd'hui âgé de 38 ans et père de famille, Christophe est l'un des meilleurs escaladeurs français et un conférencier à succès. Christophe nous explique que c'est l'action qui l'a sauvé. L'action de grimper, l'action d'aider les autres, l'action de fonder une famille, l'action d'avoir des projets, toujours et encore. Il a rencontré d'autres malades comme lui dans le monde entier. Seuls ont survécu ceux qui avaient des projets et étaient dans l'action. Tous les autres, centrés sur leur condition et leur maladie, sont morts. Tous sans exception.Son témoignage fait écho à ceux de Victor Frankl, rescapé des camps nazis ou Alexandre Soljenitsyne, rescapé du goulag soviétique : c'est avoir quelque chose à construire, à donner, à partager qui alimente la résilience et notre capacité à subir.Ma rencontre avec Christophe et cet épisode m'ont fait tellement de bien. Quand je pense à lui, je souris. Vous comprendrez quand vous l'aurez écouté.Références:Site de Christophe Bichet Man's Search For Meaning: The classic tribute to hope from the Holocaust, Viktor Frankl (éditions Rider)L'archipel du Goulag , Alexandre Sljenistsyne (éditions Points)Ils avaient tout compris, Nicolas Lisimachio  (éditions Hachette)

HIGH YIELD 1: Top Weird Drug Reactions Review for the USMLE Step 1 exam The podcast discusses high yield weird drug side effects that are unexpected. Cyanopsia (blue vision) with sildenafil (PDE-5 inhibitor) Hepatic necrosis with halothane (inhaled anesthetic) Tendon/cartilage damage with fluoroquinolones (antibiotics) Cinchonism with quinidine (class IA antiarrhythmic) Hemorrhagic cystitis with cyclophosphamide and ifosfamide (chemotherapeutic agents) Muscle pain and rhabdomylitis from statin use (cholesterol lowering med) Tartive dyskinesia with antipsychotics  Fanconi syndrome from expired tetracyclines (antibiotics)

Привет, мои драгоценные Бандито-аудиофилы! ✌🏻😎 Хочу с вами поделиться моим лайв сэтом, который был записан во время моей игры в одесском заведении - Fanconi. Думаю вам такой формат музыки зайдёт, дайте обратную связь в комментариях ✍️. 📳 DJ BANDIT on the web, follow me: ➤ Official site → taplink.cc/djbandit ➤ Instagram → www.instagram.com/djbandit/ ➤ Facebook → www.facebook.com/DJBanditOffi... ➤ Mixcloud → www.mixcloud.com/bandit_odessa ➤ Telegram → bit.ly/385ifik ➤ iTunes Podcast → apple.co/2ydufi9

DJ MANIAK And MC RYBIK - Live Mix From Fanconi Rivera MD 2022 by djmaniak

MZHIPHOP talks with artist and Farmer DOUBS C about his single ‘The Transplant' and the story behind the music of his rare condition Fanconi anemia. Plus we discuss his farm ‘It Takes A Village'. --- Send in a voice message: https://anchor.fm/mzhiphop/message

Привет, мои драгоценные Бандито-аудиофилы! ✌🏻😎 Хочу с вами поделиться моим лайв сэтом, который был записан во время моей игры в одесском заведении - Fanconi. Думаю вам такой формат музыки зайдёт, дайте обратную связь в комментариях ✍️. 📳 DJ BANDIT on the web, follow me: ➤ Official site → taplink.cc/djbandit ➤ Instagram → www.instagram.com/djbandit/ ➤ Facebook → www.facebook.com/DJBanditOffi... ➤ Mixcloud → www.mixcloud.com/bandit_odessa ➤ Telegram → bit.ly/385ifik ➤ iTunes Podcast → apple.co/2ydufi9

On the second episode of our Below the Radar series: The Climate Imaginary, Steve Tornes and Alex K Masse sit down to talk with Kendra Fanconi, artistic director of The Only Animal. Kendra's work with The Only Animal—a theatre company based in Vancouver—arises from a deep engagement with place and unfolds in collaboration with the natural world. Together, they discuss the process of making theatre in the anthropocene, The Only Animal's Artist Brigade cohort of 100 climate-engaged artists, and the role that artists play in re-imagining the climate crisis. Through collectively traversing climate grief and anxiety, they talk over how collaboration brings forward new ideas and lessons on sharing with our natural world. Full episode details: https://www.sfu.ca/vancity-office-community-engagement/below-the-radar-podcast/series/the-climate-imaginary/193-kendra-fanconi.html Read the transcript: https://www.sfu.ca/vancity-office-community-engagement/below-the-radar-podcast/transcripts/193-kendra-fanconi.html Resources: The Only Animal: https://www.theonlyanimal.com/ SCALE, Sectoral Climate Arts Leadership for the Emergency: https://scale-lesaut.ca/about/#values Shifting Baseline Theory (Diminishing Baseline Theory): https://news.mongabay.com/2009/06/proving-the-shifting-baselines-theory-how-humans-consistently-misperceive-nature/ The Only Animal's Artist Brigade: https://www.theonlyanimal.com/the-artist-brigade/ Art and the World after this by David Maggs: https://metcalffoundation.com/publication/art-and-the-world-after-this/ 1000 Year Theatre: https://www.theonlyanimal.com/2021/11/17/the-thousand-year-theatre/ Museum of Rain: https://www.theonlyanimal.com/2021/11/17/museum-of-rain/ Bio: Kendra Fanconi is the Artistic Director of The Only Animal, a 16-year-old company that is uniquely dedicated to theatre that springs from a deep engagement with place, and towards solutionary outcomes for this climate moment. She is known for her love of the impossible. Selected Credits for directing/writing: World premiere of Slime, written by Bryony Lavery, tinkers, based on the Pulitzer-Prize winning novel by Paul Harding, Nothing But Sky, a living comic book (Jessie for Significant Artistic Achievement), NiX, theatre of snow and ice, at the 2010 Cultural Olympiad and Enbridge Festival, Alberta Theatre Projects 2009, (Winner of Betty Mitchell Award and Vancouver's Critic's Choice Award for Innovation). Current projects include 1000 Year Theatre and Museum of Rain. Kendra leads the Artist Brigade, bringing arts and artists to the front lines of the climate movement. Kendra is a founding member and a coordinating circle member of SCALE, Sectoral Climate Arts Leadership for the Emergency, where she is a conduit for the Artist Mobilization Working Group, fondly known as the Art Mob. Kendra lives on Shíshálh land on the far left coast of Canada, and is a farmer, a forager, and mother to two kids who are real characters. Cite this episode: Chicago Style Tornes, Steve and Alex Masse. “The Climate Imaginary: The Art Shaped Hole in the Climate Crisis — with Kendra Fanconi.” Below the Radar, SFU's Vancity Office of Community Engagement. Podcast audio, November 8, 2022. https://www.sfu.ca/vancity-office-community-engagement/below-the-radar-podcast/series/the-climate-imaginary/193-kendra-fanconi.html.

In this episode, we review the high-yield topic of Fanconi Syndrome from the Renal 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://anchor.fm/medbulletsstep1/message

In this episode, we will talk about what Fanconi Anemia is, and what a FA diagnosis means for the patient. Tune in to learn about this very rare and life-threatening illness ahead of diving deep into my very own survival story. Follow the action here https://linktr.ee/dayzero_podcast

Episode 439. Investigating myself. Topic: Fanconi anemia. What is anemia and what causes it? What is Fanconi anemia? How common is this condition and how is is treated? Can you find out if you carry this disease on a common commercial genetic test? What about the 18 other genes involved? Twitter: @3minutelessonEmail: 3minutelesson@gmail.comInstagram: 3minutelessonFacebook: 3minutelesson New episode every Monday, Wednesday, and Friday! Find us everywhere podcasts are found.

Laurie Strongin's son Henry passed away at the age of 7 from the blood disorder Fanconi Anemia in 2002.  During Henry's battle with this disorder and after he passed away  Laurie worked very hard with the United States Congress, which included  polar opposites Nancy Pelosi and Newt Gingrich to try and pass the Stem Cell Enhancement Research Act which would have helped Henry during his health crisis. Laurie appeared on Nightline, wrote an op-ed piece in the Washington Post criticizing then President Bush for vetoing the legislation, and eventually took part in a White House Ceremony with President Obama who lifted the ban on the funding of the desired bill in 2009.Laurie also started the Hope For Henry Foundation which directly impacts Pediatric Cancer patients as it looks for ways to make their hospital stays as comfortable and pleasant as possible. This foundation has helped 74,000 kids and the  Hope For Henry Program is now in 20 hospitals around the country with definite expansion plans on the horizon.

Edited by Drs L Ferguson and Z Jiyad.Narrated by Dr V Pinder.1) Evaluation of watchful waiting and tumour behaviour in patients with BCC2) Methotrexate hampers immunogenicity to BNT162B2 MRNA COVID vaccine in immune mediated inflammatory disease3) Diagnostic utility of circumferential peripheral globules under dermoscopy in adults4) The safety and immunologic effectiveness of live varicella zoster vaccine in patients receiving anti-TNF inhibitor therapy5) A systematic review of the impact of genetic testing for familial melanoma i) primary and secondary preventative behaviours ii) psychosocial outcomes and attitudes6) Skin adverse events related to PPE: a systematic review and meta-analysis7) Cutaneous findings in Fanconi's anaemia8) Adenopathy and extensive skin patch overlying plasmocytoma (AESOP): 2 morphological variants.Advanced Strings, Sir William Perkin's school- Isla Galpin (1st violin), Hayun Lee (2nd violin), Miss Townsend (viola), Amélie Christian (cello) - Chanson de Matin by Edward Elgar (1857–1934)

Dialogue의료자문: 진단서에 있는 병명대로 판코니 빈혈 증세랑 일치합니다.Conseiller médical :Cela correspond aux symptômes de l'anémie de Fanconi, comme le nom de la maladie indiqué sur le certificat médical.정의식: 확실해요?Cheong Eui-sik :Vous en êtes sûr ?의료자문: 예. 조속히 외부 병원으로 이송하는 게 좋을 듯합니다.Conseiller médical :Oui. Il vaudrait mieux la transférer immédiatement dans un autre hôpital.L’expression de la semaine확실해요? : Vous en êtes sûr ?확실하다 : adjectif verbal qui signifie « être certainement ainsi »Cette expression s’emploie pour vérifier si les propos de l’interlocuteur sont exacts. Elle peut être utilisée pour examiner s’il y a une erreur ou un mauvais jugement. Elle est aussi employée quand il y a quelque chose de douteux et pour demander si c’est bien clair.Si le locuteur demande « 확실해요? », cela peut rendre son interlocuteur embarrassé et le faire douter sur une quelconque erreur de sa part. A la place de « 확실해요? », on peut utiliser « 틀림없어요? », « 믿어도 돼요? » ou « 정말 그래요? ».Exemples① 가: 내일까지 보고서를 끝내겠습니다. 나: 확실해요? 이번에는 믿어도 되겠죠? A: Je vais finir ce rapport jusqu’à demain. B: Vous en êtes sur? Est-ce que je peux vous faire confiance cette fois-ci?② 가: 아까 서류를 분명히 여기에 올려놓았는데 안 보이네요. 나: 여기에 놓은 거 확실해요? 다시 한 번 잘 생각해 봐요. A: Je suis certain que j’ai posé le document ici, mais je ne le vois plus. B: Vous êtes sûr que vous l’avez posé ici? Réfléchissez bien encore une fois.Consultante : Park, Ji-young (professeur retraitée du LEI, Université Nationale de Séoul)Mots et expressions à retenir진단서 : « certificat médical »에 : particule de lieu qui porte le sens de « à », « dans » ou « sur »있다 : « il y a » ou « se trouver »병명 : « nom de la maladie »대로 : « comme »판코니 빈혈 : l'anémie de Fanconi 증세 : « symptôme »랑 ou 이랑 : particule qui indique que le mot auquel elle est attachée est un objet de comparaison일치하다 : « correspondre »예: « oui » ▶ On peut aussi dire « 네 ». 예 et 네 sont des termes honorifiques. En non honorifique, on dit « 응 ». 조속히 : « immédiatement » ou « dès que possible »외부 : « extérieur » 병원 : « hôpital »으로 : particule qui donne le sens de « vers », « à » ou « dans »이송하다 : « transférer »좋다 : « être bien »-을 듯하다 : expression qui se traduit par « il semble »※ Les adjectifs et les adverbesEn coréen, il y a deux sortes d’adjectifs : adjectifs épithètes et adjectifs verbaux. Les premiers sont des adjectifs qui s’emploient pour qualifier les substantifs, comme « joli », « grand » ou « petit ». Les derniers qualifient aussi les substantifs, mais ils servent de verbe dans les phrases. Alors, ils se traduisent, par exemple, « être joli », « être grand » et « être petit ». En fait, les adjectifs épithètes proviennent des adjectifs verbaux.Exemples : « Etre joli » se dit en coréen « 예쁘다 ». « Etre grand », « 크다 » et « être petit », « 작다 ». Comment peut-on transformer un adjectif verbal en adjectif épithète ? : on prend le radical d’un adjectif verbal et y ajoute ㄴ ou 은. Si le radical se termine par une voyelle, on prend « ㄴ ». Et s’il se termine par une consomme, on prend « 은 ».Dans le cas de « 예쁘다 », son radical est 예쁘. Comme ce dernier se termine par la voyelle « 으 », on y ajoute « ㄴ ». Cela fait « 예쁜 ». La phrase « La fleur est jolie » se dit en coréen « 꽃이 예쁘다 ». 꽃, c’est « fleur » et « 이 » est la particule de sujet. Et, en adjectif épithète, « jolie fleur », c’est en coréen « 예쁜 꽃 ». Alors, comment faire avec un adjectif verbal qui se termine par une consonne ? Voici un exemple : 작다 signifie « être petit ». Son radical est 작. Ce dernier se termine par la consonne « 기역 ». Donc, on prend « 은 », ce qui fait « 작은 ». Ainsi, « L’arbre est petit », se dit en coréen « 나무가 작다 » et « petit arbre », « 작은 나무 ».Maintenant, passons aux adverbes. Il y a plusieurs façons de faire des adverbes, mais commençons par la plus simple. Pour changer certains adjectifs verbaux en adverbes, il suffit d’enlever la terminaison -다 et d’ajouter -게 au radical. Prenons comme exemple 크다. Suivant la règle, on enlève 다, ce qui donne « 크 ». Ensuite, on y ajoute -게, et cela fait « 크게 ». Voilà, c’est l’adverbe qui se traduit par « grandement ». De même, 예쁘다 et 작다 deviennent 예쁘게 et 작게.

'We are all artists of the Anthropocene. We inherently are because this is the world that we're living in right now. There's no other world. We were down earlier at Robert's Creek (BC) and it's a salmon bearing stream. I think of it like we're artists in the Anthropocene, like fish would be in the ocean: the water is all around us and the Anthropocene is all around us. I think it may be what Ben Okri is tasking us with is: can you describe the water? It's all we know, but we need to be able to look from this moment now into the future and maybe that's the job of artists. We're the visionaries, we can see the future and we can envision it in different ways. I think he speaks to that too at the end of the article about saying part of why we need to talk about the times we're in now is in relationship to a future, whatever that future looks like. And I do spend a lot of time trying to negotiate my belief in the future.'Kendra Fanconi, Robert's Creek, BC 2021My 2nd conversation with theatre artist and art + climate activist Kendra Fanconi in Robert's Creek, BC about the ‘Artist Brigade', Ben Okri, eco-restoration, eco-grief & reauthoring the world, with excerpts from e43 haley, e30 maggs & é37 lebeau. Robert's Creek is on the ancient and unceded territory of the shishalh Nation.  The shishalh people call Robert's Creek xwesam.  I've known Kendra for many years, first through her work with Radix Theatre then as an arts and environment advocate in the community, notably through The Only Animal company, which she co-founded with Eric Rhys Miller in 2005 and which has created over 30 shows  that ‘take theatre places it has never gone before'. I've always admired Kendra's vision, her calm demeanour, her strategic mind, and deep commitment to environment issues, as you'll hear on our conversation, which recorded in her kitchen in Robert's Creek, BC. My goal with this series of second conversations is to go deeper into issues from our initial conversation, to hear updates on their work as well as their vision for the future. Kendra gave me an update on the ‘Artists Brigade' project, her perspectives Nigerian novelist and poet Ben Okri's call to action Artists must confront the climate crisis – we must write as if these are the last days article, ecological restoration, the work of death doula and climate grief advisor Corey Mathews (Hardeman), the impact of eco-anxiety and about reauthoring the world, including excerpts from e43 haley, e30 maggs & é37 lebeau.Links mentioned during our conversation :Jason DeCaires Taylor (coral reef work)Alana MitchellGreenhouse (two-day climate intensive for Artist Brigade)David Suzuki FoundationI was also moved by this quote from my conversation with Kendra:I think the climate movement is full of love and care. Those are the people who get involved. Even though we have this sort of vision of the angry activists. I think at the heart of it, it's about care and love. And so, I found that definition of climate grief and the link of love and loss to be very reassuring and to know that grieving in community, which may be is, I mentioned to you earlier, this sort of love that I have for this climate brethren, artists who care about climate, that I've found on how nourishing that is for me. Maybe we all do it together? We're locked in this love and loss and we're doing it as a community and versus doing it alone, which I feel like I did do for many years before I got involved in this way. It's just so much better.Excerpt from previous conscient episodes used in e87: David Haley (e43 haley):What I have learned to do, and this is my practice, is to focus on making space. This became clear to me when I read, Lila : An inquiry into morals by Robert Pirsig. Towards the end of the book, he suggests that the most moral act of all, is to create the space for life to move onwards and it was one of those sentences that just rang true with me, and I've held onto that ever since and pursued the making of space, not the filling of it.David Maggs (e30 maggs):Complexity is the world built of relationships and it's a very different thing to engage what is true or real in a complexity framework than it is to engage in it, in what is a modernist Western enlightenment ambition, to identify the absolute objective properties that are intrinsic in any given thing. Everyone is grappling with the fact that the world is exhibiting itself so much in these entanglements of relationships. The arts are completely at home in that world. And so, we've been sort of under the thumb of the old world. We've always been a kind of second-class citizen in an enlightenment rationalist society. But once we move out of that world and we move into a complexity framework, suddenly the arts are entirely at home, and we have capacity in that world that a lot of other sectors don't have. What I've been trying to do with this report (Art and the World After This) is articulate the way in which these different disruptions are putting us in a very different reality and it's a reality in which we go from being a kind of secondary entertaining class to, maybe, having a capacity to sit at the heart of a lot of really critical problem-solving challenges.Anne-Catherine Lebeau (é37 lebeau.):Note: translation from the FrenchFor me, it is certain that we need more collaboration. That's what's interesting. Moving from a 'Take Make Waste' model to 'Care Dare Share'. To me, that says a lot. I think we need to look at everything we have in the arts as a common good that we need to collectively take care of. Often, at the beginning, we talked in terms of doing as little harm as possible to the environment, not harming it, that's often how sustainable development was presented, then by doing research, and by being inspired, among other things, by what is done at the Ellen MacArthur Foundation in England, around circular economies, I realized that they talk about how to nourish a new reality. How do you create art that is regenerative? Art that feeds something.Ocean view at Robert's Creek, November 24, 2021Kendra Fanconi, eyes closed, in her Kitchen, Robert's Creek, BC. November 24, 2021Kendra (and cat) at bridge over the creek at her house, Robert's Creek, BC November 24, 2021 *END NOTES FOR ALL EPISODESHere is a link for more information on season 5. Please note that, in parallel with the production of the conscient podcast and it's francophone counterpart, balado conscient, I publish a Substack newsletter called ‘a calm presence' which are 'short, practical essays for those frightened by the ecological crisis'. To subscribe (free of charge) see https://acalmpresence.substack.com. You'll also find a podcast version of each a calm presence posting on Substack or one your favorite podcast player.Also. please note that a complete transcript of conscient podcast and balado conscient episodes from season 1 to 4 is available on the web version of this site (not available on podcast apps) here: https://conscient-podcast.simplecast.com/episodes.Your feedback is always welcome at claude@conscient.ca and/or on conscient podcast social media: Facebook, X, Instagram or Linkedin. I am grateful and accountable to the earth and the human labour that provided me with the privilege of producing this podcast, including the toxic materials and extractive processes behind the computers, recorders, transportation systems and infrastructure that made this production possible. Claude SchryerLatest update on April 2, 2024

Subtítulos의료자문 : 진단서에 있는 병명대로 판코니 빈혈 증세랑 일치합니다.Médico : Tal como dice en el diagnóstico médico, los síntomas concuerdan con la anemia de Fanconi.정의식 : 확실해요?Jeong Eui Sik : ¿Está seguro?의료자문 : 예. 조속히 외부 병원으로 이송하는 게 좋을 듯합니다.Médico : Sí. Será mejor que la trasladen cuanto antes a un hospital externo.Expresión de la semana확실해요? Pronunciación : hwaksilhaeyo?Traducción : ¿Está seguro?Explicación gramaticalEsta oración interrogativa está formada por el adjetivo predicativo 확실, cuyo equivalente en castellano es: sin duda, seguro, cierto, definitivo, evidente, claro. Este adjetivo se une al verbo 하다 (hacer), convirtiéndose en 확실하다 (ser seguro, ser evidente, estar claro).La expresión ‘확실해요?’ se usa para confirmar que lo que dice nuestro interlocutor o una tercera persona es realmente cierto. Se puede utilizar cuando deseamos aclarar algo que todavía no es lo suficientemente certero o claro, o para asegurarnos de si hay algún juicio incorrecto. Asimismo es válida para esclarecer o confirmar pequeñas dudas. Por otra parte, 확실해요? puede emplearse para generar tensión o nerviosismo en nuestro interlocutor, refutando lo que acaba de decir o para que vuelva a cerciorarse de lo que acaba de afirmar o negar. En estos casos, podemos usar también expresiones alternativas a 확실해요? tales como: 틀림없어요? (Es correcto/infalible?); 믿어도 돼요? (Puedo confiar en lo que acabas de decir?); 정말 그래요? (Realmente es así?).Por último, 확실해요? pertenece al registro semiformal. Para elevarla al nivel honorífico diremos 확실합니까? Al contrario, su versión informal de tuteo es 확실해?

“It was a life or death... that was our life and we rose to the occasion.” Katie, Certified Child Life Specialist talks with Laurie Strongin from Hope for Henry. We talk about: +How parenthood started out with hearing the news no parent wants to hear +How Laurie's growing family lived out of hotels and Ronald McDonald Homes for years +The impact her first born's death has had on his siblings +How the first birthday without a “birthday boy” sparked a mission that has reached over 55,000 children in hospitals. Have you heard? The Child Life On Call mobile app for parents, kids and their care team will be available in 2022. Sign up to stay informed here. Child Life On Call is a community of parents and professionals that share ideas, stories and resources to help YOU navigate your child's unique experiences. We give you strategies to support yourself and your family through life's challenges. We are so glad you are here. Child Life On Call | Instagram | Facebook | Twitter

Ben Twist at Creative Carbon Scotland talks about the transformation from a Culture of Consumerism to a Culture of Stewardship, and we are the culture makers, so isn't that our job right now to make a new culture? And it will take all of us as artists together to do that…  It's not enough to do carbon neutral work. We want to do carbon positive work. We want our artwork to be involved with ecological restoration. What does that mean? I've been thinking a lot about that. What is theatre practice that actually gives back, that makes something more sustainable? That is carbon positive? I guess that's a conversation that I'm hoping to have in the future with other theatre makers who have that vision.kendra fanconi, conscient podcast, April 19, 2021, British ColumbiaI've known Kendra for many years, first through her work with Radix Theatre then as an arts and environment advocate in the community, notably through The Only Animal, which she co-founded in 2005 and which has created over 30 shows that ‘take theatre places it has never gone before'. I've always admired Kendra's vision, her calm demeanour, her strategic mind, and deep commitment to environment issues, as you'll hear on our conversation, which recorded remotely between Ottawa and her home on the Sunshine Coast. As I did with all episodes this season, I have integrated excerpts from previous episodes in this case, from e19 reality in this episode. I would like to thank Kendra for taking the time to speak with me, for sharing her deep knowledge of arts and environment practices, her generosity of spirit and her passion for the mobilization of artists in climate emergency. For more information on Kendra's work, see https://www.theonlyanimal.com/Kendra in the field... *END NOTES FOR ALL EPISODESHere is a link for more information on season 5. Please note that, in parallel with the production of the conscient podcast and it's francophone counterpart, balado conscient, I publish a Substack newsletter called ‘a calm presence' which are 'short, practical essays for those frightened by the ecological crisis'. To subscribe (free of charge) see https://acalmpresence.substack.com. You'll also find a podcast version of each a calm presence posting on Substack or one your favorite podcast player.Also. please note that a complete transcript of conscient podcast and balado conscient episodes from season 1 to 4 is available on the web version of this site (not available on podcast apps) here: https://conscient-podcast.simplecast.com/episodes.Your feedback is always welcome at claude@conscient.ca and/or on conscient podcast social media: Facebook, X, Instagram or Linkedin. I am grateful and accountable to the earth and the human labour that provided me with the privilege of producing this podcast, including the toxic materials and extractive processes behind the computers, recorders, transportation systems and infrastructure that made this production possible. Claude SchryerLatest update on April 2, 2024

In this episode, the grievous girls are wrapping up the semester and closing out their Fanconi Syndrome findings. There is discussion on treatments and a case study piecing together the puzzle for viewers. Happy Summer!!

This episode we're taking a deeper dive into symptoms and diagnosis of Fanconi Syndrome.

Febrero es el mes de las enfermedades raras. Se calcula que en el mundo hay más de 300 millones de personas que viven con alguna de las más de 6,000 enfermedades raras identificadas, conforme datos disponibles en la página rarediseaseday.org. Los pacientes, sus familias, amigos y entorno viven y sufren en medio de innumerables situaciones y retos, como la falta de información, el retraso del diagnóstico o un diagnóstico erróneo, con el consiguiente retraso de un tratamiento debido, o la afectación de la calidad de vida hasta la amenaza de la vida misma, entre otras situaciones que constituyen muchas veces un verdadero calvario.Porque aún podemos conversar dedicamos este episodio a conocer un poco más sobre las enfermedades raras, y sobre la necesidad de contar con una ley sobre las mismas. Para ello tuvimos la posibilidad de charlar con Fernando Ferrer que ha dedicado estos últimos años a abogar y ser portavoz de las necesidades de quienes sufren de enfermedades raras y con Ana Concha, Vice Presidenta de la Fundación Un Corazón por Fanconi, que busca ayudar en R.D. a las personas que sufren la anemia de Fanconi. Es una conversación donde podrán conocer la situación y las necesidades de los pacientes de enfermedades raras, y también la experiencia práctica de alguien que lo ha sufrido en primera persona con sus hijos, como es el caso de Ana.Puedes seguir la fundación de Ana en @uncorazonporfanconiSuscríbete al podcast en tu plataforma preferida y síguelo en @aunpodemosconversarEpisodio grabado en febrero 2021 vía Zoom.Tema del podcast: Season 2 (música de Pedro M. Ramírez, creada con GarageBand).

This first episode provides a look at the basics of Fanconi Syndrome; what system it involves, what organs are involved, and symptoms.

February is rare disease month, and February 28th is rare disease day.  Join me as we discuss the rare disease Fanconi Anemia with 16 year old Aurianna and her Mom Natalie.  Aurianna shares her story of being diagnosed with Fanconi Anemia at age 8 and what the course of management of this disease looked like during this challenging time.  Learn all about this rare disease and how you can help assist in bringing a positive change for kids like Aurianna.  You don't want to miss this episode!!#fanconi #fanconianemia #bethematch #bonemarrowtransplant #cordbloodawareness #rmhc #rmh #gocampsunshine

C'est une histoire touchante et pleine d'espoir. Dans un documentaire, "L'enfant du double espoir", diffusé ce soir, France 5 raconte le combat de deux parents, Charlotte et Olivier, pour sauver la vie de César, 5 ans, atteint d'une maladie rare. "Il a une anémie de Fanconi, une maladie incurable qui touche en premier lieu les plaquettes sanguines et qui l'affaiblit considérablement. Les médecins ne lui prédisent que quelques années à vivre", témoigne Olivier. Une seule solution : une greffe de moelle osseuse. Mais Eliott, le frère de César, n'est pas compatible. "On nous a dit que la moelle osseuse serait vite défaillante et qu'il fallait un donneur compatible, témoigne Charlotte. On a très vite rencontré un généticien qui nous a demandé si on souhaitait un 3ème enfant". Désireux depuis longtemps d'agrandir la famille, le couple se lance alors dans la conception d'un "enfant de l'espoir". Invités : - Charlotte et Olivier, parents de César, Marceau et Eliott.

Christophe Bichet, conférencier, coach de vie, et hypnothérapeute, a également été grimpeur professionnel et enseignant-formateur pendant quinze ans au niveau international. Christophe, ce trentenaire souriant qui a déjà eu plusieurs vies et qui croque la vie à pleines dents, est atteint d’une maladie génétique rare et complexe. Le diagnostic de la maladie de Fanconi tombe lorsqu’il a 5 ans. Les personnes atteintes de cette maladie ne dépassent généralement pas l’adolescence. Christophe a défié les statistiques puisqu’il est désormais trentenaire. Christophe sait combien la vie est courte, parfois grave, et belle aussi. La menace réelle de la mort aurait pu empêcher Christophe de vivre. Ce n’est pas ce qui s’est passé. Christophe veille à vivre pleinement sa vie, en ajustant continuellement sa trajectoire sur la voie qu’il a choisie de grimper, avec puissance et légèreté. Christophe nous invite, par son parcours et à travers sa joie pétillante d’être vivant, à veiller à cheminer dans notre vie avec lucidité, responsabilité, profondeur, épaisseur et joie.

This week’s episode will review the incidence and fate of clonal hematopoiesis among donors and recipients of related allogeneic hematopoietic stem cell transplantation, examine the manifestations and clinical course of patients with a particular subtype of Fanconi anemia, and assess three clinical studies that demonstrate high rates of efficacy and low rates of toxicity of daratumumab in patients with previously treated AL amyloidosis.

What do rock climbing and accounting have in common? Quite a bit, it appears. We recently sat down with motivational speaker,mental coach for the French National Climbing Team, and rock climber, Christophe Bichet, to talk about how it is possible to strap on your crampons and climb towards world-class proficiency and success in everything you do, whether you're scaling the French Alps, learning a new hobby, or setting up your own remote accounting business. Listen in for this exciting twist on accounting education. Christophe and DOPE CFO co-founder Andrew Hunzicker, CPA discuss the following inspiring topics: Persevering in the face of adversity: Christophe describes his lifelong fight with Fanconi anemia and how battling this illness early on shaped his fearless outlook he still has today (despite people telling him he would die young and should just take it easy in life). Discover a new philosophy for living life: learn about Christophe's approach of living each day as if it were your first day on Earth (and how that sets him up to explore multiple endeavors at a high level -- and how that relates to your journey as an accountant). Achieve world-class level proficiency in anything you do: we'll discuss how rock climbing relates to scaling all challenges in life and putting in world-class effort, whether you're summiting peaks at 20,000 feet above sea level (or launching your own remote business). Fear and how to squash it: learn how fear really is only your head, regardless of the situation (and hear Christophe's steps for coping with fear and moving on). ...and more tips and stories from Christophe! For more information on Christophe, check his website out at christophebichet.com. If you want to learn more about the DOPE CFO program and for more accounting tips and industry insight, make sure you subscribe to our DOPE CFO Podcast channel for bi-weekly episodes. --- Send in a voice message: https://anchor.fm/dopecfo/message

The long national nightmare is over. The Cold Oatmeal Podcast is back! Last week's regularly scheduled episode was declared “non-essential,” but Joe, wearing only a crocheted mask, marched in protest around the state Capitol building seven times singing “Dancing in the Dark” and bang… order reversed! We celebrate by talking to Matt's sister, Allison Breininger. Allison and her husband, Sean, are nine years into battling Sean's very rare genetic disease, Fanconi anemia. The experience of caring and advocating for her husband has brought to the surface an amazing writing talent which Allie has endeavored into a website, articles and speaking gigs on the unsung role of a caregiver. It's our first long-distance conversation, and we think we pulled it off. Be sure to listen to the bitter end for the outtakes of when it was all a little more in doubt. It's the Cold Oatmeal Podcast!

Alejandra Tabar es la fundadora de Un Corazón por Fanconi, fundación que trabaja  en la educación, diagnósticos oportunos y recabar toda la ayuda posible en la investigación de la Anemia de Fanconi, una enfermedad rara compleja, crónica y psicológicamente difícil.Porque aún podemos conversar, Alejandra nos cuenta como la vida le cambió de un momento a otro cuando a los 13 años le diagnostican la enfermedad, como sufrió la pérdida de su hermano por consecuencia de la misma, y como ha luchado y superado los retos que la anemia conlleva, sin detenerse hasta comenzar a ayudar de todas las formas que sean posibles a través de su fundación.Puedes conocer y saber más de la noble causa de Alejandra en su cuenta de Instagram @uncoraconporfanconiEn cuanto al podcast, ya sabes que puedes escucharlo en Apple Podcast y Spotify; y seguirlo en Instagram @aunpodemosconversar y Twitter @aunpodemosconv1 

Despite living with Fanconi anemia and surviving cancer twice, he is remarkably resilient. Daniel started the Life, Death and Happiness podcast to allows others the opportunity to share their amazing stories of living with chronic and sometimes terminal illnesses. He has a great sense of humor and shares his story to inspire others. --- Send in a voice message: https://anchor.fm/lvmountaintops/message

This episode we chat with Michael Hooper of River City Rally out of Chattanooga, Tennessee. He tells us how he got started in rallying and why he decided to choose a Lexus as his vehicle of choice. Hoop also took first place at the inaugural Missouri Ozarks Regional Rally a couple weeks ago where he did a charity raffle for the Fanconi Research Foundation with the winner being rewarded to co-drive. Photo by MTJ Photography Follow River City Rally at the following social media links: YouTube Facebook Instagram River City Rally also races for a great cause.  Get more information on Fanconi anemia and the Fanconi Anemia Research Fund here:  https://www.facebook.com/fanconianemiaresearchfund/

Puck Knipscheer, Hubrecht Institute, Utrecht, speaks on "How does the Fanconi pathway promote unhooking of DNA interstrand crosslinks?". This movie has been recorded by ICGEB Trieste at "At the Intersection of DNA Replication and Genome Maintenance: 2016 - from Mechanism to Therapy" conference.

Interview with Gerard Socie, from the Hopital Saint-Louis, Paris, France. Prof. Socie discusses the topic 'Severe aplastic anemia Fanconi Anemia'.The interview is led by Shaun McCann, Chair of EHATol Unit, Member of EHA Education Committee.

Interview with Gerard Socie, from the Hopital Saint-Louis, Paris, France. Prof. Socie discusses the topic 'Severe aplastic anemia Fanconi Anemia'.The interview is led by Shaun McCann, Chair of EHATol Unit, Member of EHA Education Committee.

In patients with lung cancer whose tumors harbor activating mutations in the EGF receptor (EGFR), increased responses to platinum-based chemotherapies are seen compared with wild-type cancers. However, the mechanisms underlying this association have remained elusive. Here, we describe a cellular phenotype of crosslinker sensitivity in a subset of EGFR-mutant lung cancer cell lines that is reminiscent of the defects seen in cells impaired in the Fanconi anemia pathway, including a pronounced G2–M cell-cycle arrest and chromosomal radial formation. We identified a defect downstream of FANCD2 at the level of recruitment of FAN1 nuclease and DNA interstrand crosslink (ICL) unhooking. The effect of EGFR mutation was epistatic with FANCD2. Consistent with the known role of FANCD2 in promoting RAD51 foci formation and homologous recombination repair (HRR), EGFR-mutant cells also exhibited an impaired RAD51 foci response to ICLs, but not to DNA double-strand breaks. EGFR kinase inhibition affected RAD51 foci formation neither in EGFR-mutant nor wild-type cells. In contrast, EGFR depletion or overexpression of mutant EGFR in wild-type cells suppressed RAD51 foci, suggesting an EGFR kinase-independent regulation of DNA repair. Interestingly, EGFR-mutant cells treated with the PARP inhibitor olaparib also displayed decreased FAN1 foci induction, coupled with a putative block in a late HRR step. As a result, EGFR-mutant lung cancer cells exhibited olaparib sensitivity in vitro and in vivo. Our findings provide insight into the mechanisms of cisplatin and PARP inhibitor sensitivity of EGFR-mutant cells, yielding potential therapeutic opportunities for further treatment individualization in this genetically defined subset of lung cancer.

Background: Inactivation of the Fanconi anemia (FA) pathway through defects in one of 13 FA genes occurs at low frequency in various solid cancer entities among the general population. As FA pathway inactivation confers a distinct hypersensitivity towards DNA interstrand-crosslinking (ICL)-agents, FA defects represent rational targets for individualized therapeutic strategies. Except for pancreatic cancer, however, the prevalence of FA defects in gastrointestinal (GI) tumors has not yet been systematically explored. Results: A panel of GI cancer cell lines was screened for FA pathway inactivation applying FANCD2 monoubiquitination and FANCD2/RAD51 nuclear focus formation and a newly identified FA pathway-deficient cell line was functionally characterized. The hepatocellular carcinoma (HCC) line HuH-7 was defective in FANCD2 monoubiquitination and FANCD2 nuclear focus formation but proficient in RAD51 focus formation. Gene complementation studies revealed that this proximal FA pathway inactivation was attributable to defective FANCC function in HuH-7 cells. Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. Upon retroviral transduction of HuH-7 cells with FANCC cDNA, FA pathway functions were restored and ICL-hypersensitivity abrogated. Analyses of 18 surgical HCC specimens yielded no further examples for genetic or epigenetic inactivation of FANCC, FANCF, or FANCG in HCC, suggesting a low prevalence of proximal FA pathway inactivation in this tumor type. Conclusions: As the majority of HCC are chemoresistant, assessment of FA pathway function in HCC could identify small subpopulations of patients expected to predictably benefit from individualized treatment protocols using ICL-agents.

Caddy For A Cure is a way for you to enjoy the experience of a lifetime by caddying for a PGA TOUR Professional while benefiting the Fanconi Anemia Research Fund, the Wounded Warrior Project, and many other worthy charities.Fanconi anemia is a devastating genetic bone marrow disorder that ravages children, making life most difficult for the lives it touches.Caddy For A Cure is the unique opportunity to help many worthy charities while providing the ultimate in golf experiences, the opportunity to caddy for a PGA TOUR Professional during the practice or Pro-Am round of an official PGA TOUR event. Be inside the ropes with the best players in the world, experiencing first hand their practice regimens. Experience club selection and shot execution to perfection. Experience what it feels like to walk one of the most recognizable courses in golf during an official event! 100% of all proceeds go to: The Fanconi Anemia Research Fund, the Wounded Warrior Project, the PGA TOUR player's charity, the PGA TOUR host site charity, and the PGA TOUR Caddy Benevolent Fund. www.caddyforacure.comMike & Billy also play GTR "Fore Play" golf trivia where the winner receives a golf package with the Avila La Fonda Hotel on the Inn at Avila Beach valued at over $500!Click here for information on Golf-A-Palooza 2009 with Mike and Billy!Avila Beach Golf Resort - www.avilabeachresort.com Blacklake Golf Resort - www.blacklake.comInn at Avila Beach - www.avilabeachca.comAvila LaFonda Hotel - www.avilalafondahotel.comGolfland Warehouse - www.golflandwarehouse.comSlickstix - www.slickstix.comFor more information on Golf Talk Radio with Mike & Billy visit www.golftalkradio.com and visit www.centralcoasttoday.com for Golf Talk TV with Mike & Billy.