Podcasts about Fabry

Intellectuels, chefs d'entreprises, artistes, hommes et femmes politiques... Frédéric Taddeï reçoit des personnalités de tous les horizons pour éclairer différemment et prendre du recul sur l'actualité de la semaine écoulée le samedi. Même recette le dimanche pour anticiper la semaine à venir. Un rendez-vous emblématique pour mieux comprendre l'air du temps et la complexité de notre monde.Distribué par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

This program is supported by educational grants from Amicus Therapeutics, Inc. and Chiesi USA Inc.Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive disruption of multiple organ systems. There are currently three treatment options available for Fabry disease, including two enzyme replacement therapies, agalsidase beta and pegunigalsidase alfa, and a chaperone therapy, migalastat. There are also other treatments in development (e.g., gene therapy, other enzyme replacement therapies) and some that are available in other countries (e.g., agalsidase alfa). Due to the small patient population and variability in Fabry disease severity, it is challenging to develop properly powered, placebo-controlled clinical trials. As such, data shared at conferences like WORLDSymposium 2025 are crucial for guiding best practices in this disease area. This program, led by Dr. Eric Wallace, provides a summary of clinically relevant data presented at WORLDSymposium 2025 that can enhance the care of patients with Fabry disease.  Target AudienceThis activity has been designed to meet the educational needs of physicians specializing in neurology, nephrology, cardiology, gastroenterology, ophthalmology, and dermatology. Other members of the care team may also participate.Learning ObjectivesAfter participating in the activity, learners should be better able to: Describe the latest research being presented to better manage individuals with Fabry disease and its clinical relevance.Eric Wallace, MDProfessor of MedicineDepartment of NephrologyUniversity of Alabama Medical SchoolDisclosure StatementAccording to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.Disclosure of relevant financial relationships are as follows:Faculty Educator/PlannerDr. Wallace discloses the following relevant financial relationships with ineligible companies:Advisory Board Consultant: Sanofi-Genzyme, Chiesi, Kyowa Kirin, Sangamo, NateraGrant/Research Support: Sanofi-Genzyme, Chiesi, Uniqure, Idorsia, Amicus Other Planners for this activity have no relevant financial relationships with any ineligible companies.This activity will review off-label or investigational information.The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.Accreditation and Credit DesignationIn support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.PhysiciansAmerican Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Other HCPsOther members of the care team will receive a certificate of participation.There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.Hardware/Software RequirementsWindows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connectionMacintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connectionPrivacyFor more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare's privacy policy, please access https://checkrare.com/privacy/ContactFor any questions, please contact: CEServices@academycme.orgCopyright© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Dans cet épisode, Frédéric Taddeï reçoit Sébastien Broca pour décrypter le pouvoir des GAFAM et les dérives du numérique.Puis, avec Olivier Rajchman, il plonge dans les folles coulisses du cinéma, entre chefs-d'œuvre et réalisateurs obsessionnels.Une conversation éclairante entre technologie, société et 7e art.Notre équipe a utilisé un outil d'Intelligence artificielle via les technologies d'Audiomeans© pour accompagner la création de ce contenu écrit.Distribué par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

Today, we're joined by Dr. Amie Fabry, an early childhood educator, academic, researcher, policy consultant, and Director of Early Childhood at The Learning Future. Amie's work focuses on building the confidence, knowledge, and skills of early childhood educators and leaders to create responsive and trusting cultures where both educators and children can thrive. She is also the author of Lead with Intention, the first leadership framework designed for early years education. Leadership isn't about titles or power, it's about developing potential in others. In this episode, Amie shares how to cultivate a strong team culture, lead with self-awareness, and build trust so that educators feel confident, valued, and supported. Here's what you'll learn in this episode: Why leadership isn't just about titles, it's about impact. How to develop self-awareness as a leader. The power of knowing your ‘why' and using it to guide decision-making. How to foster collaboration and build shared values within your team. Practical ways to create psychological safety so educators feel valued and empowered. Why real leadership happens in the small, everyday moments not just in formal roles. Want to go deeper? If today's conversation resonated with you, Amie offers several ways to support your leadership journey: Lead with Intention Framework – A practical guide breaking down these ideas with actionable steps. 1:1 Coaching – Work with Amie to build clarity and confidence in your leadership. Professional Learning Programs – Join a cohort of like-minded leaders for deeper growth. Find all the details at The Learning Future. Connect with Dr. Amie Fabry: Instagram: @thelearningfuture LinkedIn: Amie Fabry Email: amy@thelearningfuture.com Resources for You: Inspired by this episode? If you're ready to start developing your self awareness and leading with purpose, check out The EMotionally Intelligent Educator Connect with Em: Website: emmagentle.com.au Instagram: @em_gentle LinkedIn

Matt and Fabry are back! This week's episode recaps how Genoa have fared thus far under Patrick Vieira. Plus, the gang preview il grifone's upcoming match against Cagliari

La matinale du 12 février présentée par Clémence Houdiakova, au sommaire aujourd'hui :2:30 Une plainte pénale déposée pour tromperie aggravée contre les différentes autorités de santé !

Protalix BioTherapeutics CEO Dror Bashan recently detailed the company's vision for 2025, highlighting advancements in its proprietary ProCellEx platform and its commitment to addressing unmet medical needs. Protalix specializes in producing complex human proteins using plant cell technology, focusing on therapies for Fabry and Gaucher diseases while exploring new opportunities in other therapeutic areas. A key achievement in 2024 was the successful completion of a Phase 1 clinical trial for the company's treatment candidate for gout. Positive trial results have set the stage for a Phase 2 study, scheduled to begin in mid-2025. Bashan also emphasized Protalix's robust financial position, with the company becoming debt-free as of September 2024—a milestone that supports ongoing operations, clinical trials, and pipeline expansion. Protalix is also actively working to extend the reach of Elfabrio, its FDA-approved therapy for Fabry disease. Additionally, the company is leveraging its innovative platform to explore next-generation solutions in renal and other therapeutic areas, aiming to broaden its impact on patient care. Looking ahead, Protalix plans to focus on addressing unmet needs in renal therapies while continuing to build on the success of its current treatments. With a strong financial foundation and a dedication to innovation, the company is well-positioned for transformative growth in 2025 and beyond.

Sometimes you must investigate what is going in the trenches of the mortgage business: what are borrowers saying, what they are they thinking. This week we have Sacha Fabry a Front-Line Mortgage Broker at our company who is fielding over 100 calls a week from mortgage borrowers. What kind of mortgage do they want, how bad are the renewal increases, is there really a mortgage rate WAR at the Banks? Why to NEVER trust the First Rate you are offered? Is it genuinely getting harder to get a mortgage? All this and more at Angry Mortgage.

João GonçalvesFaculty of PharmacyUniversity of LisbonLisbon, PortugalPaolo CalicetiDepartment of Pharmaceutical and Pharmacological SciencesUniversity of PadovaPadova, ItalyWhat Is PEGylation and Why Is It Important?We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic proteins, including challenges such as pharmacokinetic (PK) profiles, protein aggregation during storage, and potential immune responses. The session will then delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.Biopharmaceutical and Immunological Properties of PEGylated ProteinsWe will explore the biopharmaceutical and immunological properties of PEGylated proteins, focusing on how their unique structure and composition impact their function. We will discuss how each PEGylated protein has distinct properties based on PEG architecture, molecular weight and degree of conjugation that cannot be generalized across different pegylated molecules, highlighting the variability in pharmacokinetic (PK) characteristics such as half-life, absorption, distribution, and elimination. These factors can significantly influence clinical outcomes, including dosing intervals and overall therapeutic effectiveness. We will also address the potential clinical advantages and limitations of PEGylation, with real-world examples to illustrate how these proteins are used in practice.Immunogenicity Considerations of PEGylated ProteinsWe will explore the immunogenicity of PEGylated proteins, examining both the potential benefits and risks associated with PEG modification. While PEGylation can trigger immune responses against PEG itself or the PEGylated protein, it can also help mask epitopes and reduce anti-drug antibodies formation. Drug- and patient-related factors that influence immunogenicity risk will also be covered, along with the prevalence and impact of pre-existing anti-drug antibodies (ADAs).We will discuss the potential clinical consequences of immune reactions to PEG or PEGylated proteins, and how the risk of such responses can vary depending on the unique properties of each PEGylated protein. The session will also address strategies to mitigate anti-PEG immunogenicity, as well as approaches for monitoring immunogenicity across different stages of drug development—from preclinical studies to post-marketing surveillance. Additionally, we will explore tools that may help predict therapeutic responses to PEGylated proteins, touching on potential areas for future research.Discussion and ConclusionBy the end of the session, participants will gain a comprehensive understanding of:How PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.How PEGylation affects both the biopharmaceutical properties and clinical applications of therapeutic proteinsImmunogenicity in the context of PEGylated proteins and the strategies used to manage and predict immune responses.The role of PEGylation in therapeutic outcomes and the future opportunities for innovation in this field.

Hostem středečního pořadu Na place s Davidem Novotným byl spolukomentátor závodů F1 Pavel Fabry. Jak ho bavila sezona 2024? Co očekává od Maxe Verstappena v následující sezoně a na co se mohou diváci těšit? Jak se po 26 letech zrodilo vítězství McLarenu v Poháru konstruktérů? Jak reálné je, aby se v seriálu F1 objevil někdo z Čechů? Poslechněte si celý rozhovor.Všechny díly podcastu Na place můžete pohodlně poslouchat v mobilní aplikaci mujRozhlas pro Android a iOS nebo na webu mujRozhlas.cz.

Retrouvez la matinale Tocsin du jour avec Clémence Houdiakova et ses invités : 2:30 Un député propose l'auto dissolution !

Matt and Fabry react to the sacking of Alberto Gilardino and appointment of Patrick Vieira as Genoa's new Mister.

Matt and Fabry react to Genoa's recent string of fixtures, discuss Balotelli's arrival, and tip their caps to the marketing of Genoa's third kit.

Send us a textJoin us for a fascinating conversation with Dr. David Fabry, Chief Hearing Health Officer at Starkey, as we explore the groundbreaking innovations in hearing aid technology. Discover how advancements in machine learning and deep neural networks are transforming these devices from manual tools into intelligent systems that automatically adjust to any acoustic environment, enhancing the user's auditory experience.Dr. Fabry takes us through an illuminating journey into the realm of artificial intelligence in audiology. By drawing parallels between a child's language acquisition and the learning process of deep neural networks, he vividly explains how these technologies have evolved to dramatically improve signal-to-noise ratios. We dive into the transition from traditional machine learning to modern DNN, highlighting how real-time processing and open real-time analysis are revolutionizing noise management by offering a fresh perspective on sound environments.In our final segment, we explore the significant role of AI in enriching hearing aid features, from binaural fusion to sound localization and the integration of voice assistants. With insights on the exponential growth of computational power and the pivotal role of apps like HearShare, we discuss how AI technologies foster user independence, safety, and improved quality of life. Tune in to uncover how these cutting-edge advancements are not only enhancing auditory perception but also redefining the future of hearing aids.While we know all hearing aids amplify sounds to help you hear them, Starkey Genesis AI uses cutting-edge technology designed to help you understand them, too.Click here to find a provider near you and test drive Starkey Genesis AI! Support the showConnect with the Hearing Matters Podcast TeamEmail: hearingmatterspodcast@gmail.com Instagram: @hearing_matters_podcast Twitter: @hearing_mattasFacebook: Hearing Matters Podcast

On this episode of Biotech Hangout, hosts Chris Garabedian, Daphne Zohar, Josh Schimmer, Tim Opler, Paul Matteis and special guest Allison DeAngelis kick off the show with a look at the renewed interest and recent funding in the neuropsychiatric disease space, including Seaport Therapeutics' $225 million Series B financing. This progresses into a comparison of diversified versus focused pipelines as Roivant CEO Matt Gline joins the stage as an impromptu guest to share his perspective on the benefits and challenges of the hub-and-spoke model. The group also discusses recent biotech market performance and how the statistics show that biotech is actually having a really good year. Turning to data, the hosts cover Alto Neurosciences' Phase 2 results and discuss the idea of precision psych and the use of biomarkers in clinical trials. The group also discusses Vertex's Phase 2 pain data and how Intellia's positive Phase 2 data in hereditary angioedema moved the stock in the surprisingly wrong direction. Other topics discussed include Sangamo's accelerated path for its Fabry gene therapy, Starboard takes on Pfizer, Alkermes and Roche earnings highlights, and more. *This episode aired on October 25, 2024.

Matt and Fabry recap Genoa's current situation with the 5-1 loss against Atalanta and look forward to a come back at the weekend's match against Bologna

Matt and Fabry react to Genoa's bad run of form and look at options Gila has to turn the campaign around.

El actual campeón consiguió su cuarta victoria en la liga y volvió a acercarse al grupo de los ocho. La pelota quieta puso a celebrar a miles de leopardos.See omnystudio.com/listener for privacy information.

Charlotte Cooper Sterry was a tennis player who set records during her lifetime that remained unbroken for almost a century. One of them still stands. Research: Yang, Heewon, and Kelly Chandler. "Tennis." Encyclopedia of Recreation and Leisure in America, edited by Gary S. Cross, vol. 2, Charles Scribner's Sons, 2004, pp. 351-354. Gale In Context: U.S. History, link.gale.com/apps/doc/CX3434800256/GPS?u=mlin_n_melpub&sid=bookmark-GPS&xid=64f7cfa9. Accessed 15 July 2024. com. “The Oldest' Ladies Champions.” 9/29/2017. https://www.wimbledon.com/en_GB/news/articles/2017-09-29/2017-09-29_2017-09-29_the_oldest_ladies_singles_champions.html Bennett, Courtney. "Wimbledon." St. James Encyclopedia of Popular Culture Online, Gale, 2013. Gale In Context: U.S. History, link.gale.com/apps/doc/PUXWIE130945815/GPS?u=mlin_n_melpub&sid=bookmark-GPS&xid=8c49dec7. Accessed 15 July 2024. Reilley, Lucas. “Tennis: The Sport that Loves to Kill Royalty.” 10/12/2018. https://www.mentalfloss.com/article/560200/tennis-related-royal-deaths "Tennis." Britannica Library, Encyclopædia Britannica, 25 Mar. 2024. libraries.state.ma.us/login?eburl=https%3A%2F%2Flibrary.eb.com&ebtarget=%2Flevels%2Freferencecenter%2Farticle%2Ftennis%2F108495&ebboatid=9265899. Accessed 15 Jul. 2024. Fabry, Merrill. “Why Is Tennis Scored So Weirdly?” Time. 7/14/2023. https://time.com/5040182/tennis-scoring-system-history/ “Wingfield and the birth of lawn tennis.” 5/15/2024. https://www.wimbledon.com/en_GB/news/articles/2024-05-15/wingfield_and_the_birth_of_lawn_tennis.html Smyth, J. G. "Sterry [née Cooper], Charlotte Reinagle (1870–1966), tennis player." Oxford Dictionary of National Biography. October 04, 2012. Oxford University Press. Date of access 15 Jul. 2024, https://www-oxforddnb-com.proxy.bostonathenaeum.org/view/10.1093/ref:odnb/9780198614128.001.0001/odnb-9780198614128-e-36284 Chambers, Mrs. Lambert. “Lawn Tennis for Ladies.” New York. Outing Publishing Company. 1910. https://archive.org/details/lawntennisforla00chamgoog/ Team GB. “Charlotte Cooper: The original trailblazer of women's tennis.” 3/7/2021. https://www.teamgb.com/article/charlotte-cooper-the-original-trailblazer-of-womens-tennis/PFWDdf3Zq306yiPqsw6VA1 Little, Alan. “Wimbledon Ladies : a centenary record 1884-1984 : the Single champions.” London : Wimbledon Lawn Tennis Museum. 1984. https://archive.org/details/wimbledonladiesc0000litt/ Myers, Arthur Wallis. “Lawn Tennis at Home and Abroad.” Scribner's. 1903. https://archive.org/details/lawntennisathom00myergoog/ Hillyard, George Whiteside. “Forty Years of First-class Lawn Tennis.” Williams & Norgate. 1924. https://books.google.com/books?id=lHtYAAAAYAAJ Weaver, Harry. “'Chattie' the Champion.” The London Observer. 6/27/1965. https://www.newspapers.com/image/258000462/ Robyns, Gwen. “Wimbledon; the hidden drama.” Newton Abbot, David & Charles. 1973. Troy Lennon History Editor. "First woman Olympic tennis champ was deaf". The Daily Telegraph (Australia), September 22, 2020 Tuesday. advance-lexis-com.proxy.bostonathenaeum.org/api/document?collection=news&id=urn:contentItem:60WR-RPC1-F0JP-W1PJ-00000-00&context=1519360. Accessed July 16, 2024. Robertson, Max. “Wimbledon 1877-1977.” London : Barker. 1977. See omnystudio.com/listener for privacy information.

In this episode of the Heart podcast, Digital Media Editor, Professor James Rudd, is joined by Dr Niccolo Maurizi from Lausanne, Switzerland. They discuss his recent paper in Heart on a Swiss Fabry's regsitry. If you enjoy the show, please leave us a podcast review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2 or wherever you get your podcasts - it's really helpful. Link to published paper: https://heart.bmj.com/content/early/2024/05/15/heartjnl-2024-323975

Matt and Fabry recap Genoa's 2-2 draw against Inter and look forward to the weekend's match against Monza

We're back! Matt and Fabry break down Genoa's transfer market thus far and look ahead to the first match of the season against Inter.

In this episode, we turn the tables on our host, Dave Fabry. For the first time, Dr. Fabry finds himself on the other side of the Sound Bites microphone, to take our listeners on a deep dive into Starkey's industry-leading hearing technology. From artificial intelligence (AI) to deep neural networks (DNN), learn how this technology is making life better for patients and how hearing professionals can take small steps toward implementing it into their practices. Hearing Matters host Doug Beck guest hosts this special episode of Sound Bites. To learn more about the latest in Starkey's hearing technology, visit starkeypro.com Link to full transcript.

Candice Fabry, the Head Women's Soccer Coach at Ottawa University in Kansas is BACK on Wednesday Wisdom and today she shares the Connection between Motivation and Commitment! Candice is also the Founder of Fearless and Capable - a Women led Mentoring and Coaching platform. THIS is The Educational AD Podcast! --- Support this podcast: https://podcasters.spotify.com/pod/show/educational-ad-podcast/support

In this episode, we spoke with Caleb Fabry, owner of Town & Country Pest Solutions in Rochester, New York. Caleb discusses the importance of a strong company culture and employee engagement. By using the Culture Index, he aligns team members with roles that fit their unique attributes while enhancing communication. How can utilizing culture tools help to retain team members, create mission alignment, and beat your financial goals? A significant part of Caleb's marketing strategy involves a dedicated in-house team focused on video content and social media. This approach has helped Town & Country Pest Solutions build a strong online presence and engage effectively with customers. How might investing in professional video content and social media marketing benefit your business? Learning from peer business owners has been crucial for Caleb's success. Joining leadership groups has provided valuable insights and the confidence to implement new ideas. Caleb has embraced the word "yes" when it comes to new opportunities, even outside his comfort zone. Who is pushing you to reach new heights and implement new strategies?

This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

In this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

In this first part of our four-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management strategies.Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.

We discuss the principles and application of automatic tube compensation (ATC) on modern ventilators, with its creator Ben Fabry. Dr. Fabry is a professor and chair of biophysics at University of Erlangen-Nuremberg, originally trained as an electrical engineer, who originally developed ATC as part of his PhD program. Find us on Patreon here! Buy your … Continue reading "Episode 75: Automatic tube compensation, with Ben Fabry"

Matt and Fabry recap Genoa's a conformable win 3-0 against Cagliari, thrilling tie against Milan and important win 2-1 against Sassuolo, and preview Roma-Genoa for the second last match of the season.

Much of the challenge of developing genetic medicines lies in having the right vector to deliver the therapy to the cells within the body where they need to go. 4D Molecular Therapeutics has developed platform technology that generates large numbers of genetically diverse, synthetic adeno-associated viral vectors that have desired characteristics using a process known as directed evolution. It is using these vectors to build a pipeline of genetic medicines across a broad set of conditions. We spoke to Alan Cohen, senior vice president of clinical development and therapeutic area head of pulmonology for 4DMT, about the limitations of existing vectors for genetic medicines, 4DMT's directed evolution platform technology, and its programs in cystic fibrosis and Fabry disease.

*SOLIDARITY EPISODE* This month in partnership with ⁠Fabry Support & Information Group⁠! Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked disorder caused by a mutation in the gene encoding for the α-galactosidase A (α-Gal A) enzyme, or GLA gene, which typically functions to produce a protein required for the breakdown of lipids in cells. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all. However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (clusters of small, dark red spots), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis. Depression is also reported to be another manifestation of Fabry disease with 22% of females experiencing depressive symptoms. Aside from these manifestations, more recent research has discovered females with Fabry disease tend to experience: exhaustion, exercise intolerance, decreased oxygen intake, gastroenterological disturbances, infertility, loss of libido, increased risk of headaches, and severity of Fabry-related symptoms in pregnancy. Today, we are bringing on Taylor and her mother, Andrea. Taylor is a young adult living with Fabry disease. She and Andrea discuss the challenges they faced getting Taylor's symptoms taken seriously, how their family supports Taylor through the trials and tribulations brought about by Fabry, and why they advocate. Find them here: Taylor's Instagram - @_friendswithfabry_ Andrea's email - andiemick@aol.com Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠⁠⁠.

Matt and Fabry recap Genoa's narrow 1-0 loss to Lazio, recount Blazquez's recent comments on the club's future, react to the latest kit releases, and preview Genoa - Cagliari.

Matt and Fabry breakdown Genoa's 1-1 draw against Fiorentina including some questionable referee decisions and look ahead to the upcoming home match against Lazio.

This month in partnership with ⁠⁠Fabry Support & Information Group! This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked disorder caused by a mutation in the gene encoding for the α-galactosidase A (α-Gal A) enzyme, or GLA gene, which typically functions to produce a protein required for the breakdown of lipids in cells. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all. However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (clusters of small, dark red spots), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis. Depression is also reported to be another manifestation of Fabry disease with 22% of females experiencing depressive symptoms. Aside from these manifestations, more recent research has discovered females with Fabry disease tend to experience: exhaustion, exercise intolerance, decreased oxygen intake, gastroenterological disturbances, infertility, loss of libido, increased risk of headaches, and severity of Fabry-related symptoms in pregnancy. Today, we are bringing on Lisa Berry. Lisa Berry graduated from the Brandeis University Genetic Counseling program in Waltham, MA. She has worked as a prenatal counselor in New York City, a lab coordinator for Genzyme Genetics and a study coordinator at Tufts/New England Medical Center. In 2008, she became a genetic counselor with the Rare Genetic Disease Program at Cincinnati Children's Hospital. It was here that she was able to start working with individuals and families whose lives have been impacted by lysosomal storage disorders. In addition to providing genetic counseling for families, she is on the Ohio Newborn Screening Advisory Council and is a member of the Board of Directors for the National MPS Society. Her main roles are treatment/care coordination, advocacy and working on clinical trials for various LSDs. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠⁠.

Matt and Fabry recap Genoa's win against Verona and are joined by Gabriele "Gabe" Pucci to preview Monday's match against Fiorentina.

*SOLIDARITY EPISODE* This month in partnership with Fabry Support & Information Group! Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring Fabry disease. Fabry Disease is a rare X-linked disorder caused by a mutation in the gene encoding for the α-galactosidase A (α-Gal A) enzyme, or GLA gene, which typically functions to produce a protein required for the breakdown of lipids in cells. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all. However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (clusters of small, dark red spots), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis. Depression is also reported to be another manifestation of Fabry disease with 22% of females experiencing depressive symptoms. Aside from these manifestations, more recent research has discovered females with Fabry disease tend to experience: exhaustion, exercise intolerance, decreased oxygen intake, gastroenterological disturbances, infertility, loss of libido, increased risk of headaches, and severity of Fabry-related symptoms in pregnancy. Today, we are bringing on Sabina Kineen. Sabina is a rare disease patient, caregiver, and advocate with a deep passion for health equity, mental health, and patient engagement. Diagnosed with Fabry Disease in her teens, she has spent many years sharing how the diagnosis of an inherited disease can impact an entire family.  Sabina is also a strong proponent of health equity and strives to ensure that every patient has access to the care they need and deserve. Through her advocacy work, Sabina aims to raise awareness, promote understanding, and create meaningful change for rare disease patients and their families.  Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠⁠⁠.

Matt and Fabry react to Genoa's draw vs Frosinone, the "mugugno" around Gila, and preview Genoa - Verona.

Ozlem Goker-Alpan, MD, Founder and President, LDRTC and David G. Warnock, MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders.This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To receive credit for this program, go to https://checkrare.com/learning/ Speakers Ozlem Goker-Alpan, MD, Founder and President, LDRTC David G. Warnock, MD. Professor of Medicine (Emeritus)University of Alabama at BirminghamDisclosuresAffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.Mitigation of Relevant Financial RelationshipsAffinityCE adheres to the ACCME's Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.Learning ObjectivesAt the end of this activity, participants should be able to:Describe the role of the nephrologist in the team approach to careDescribe best practices to monitor kidney function in lysosomal disordersDescribe best practices to treat kidney disorders lysosomal disordersSupport for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

Beat the Kayfabe Effect at our Patreon: https://patreon.com/cartoonistkayfabe Ed's Links (Order RED ROOM!, Patreon, etc): https://linktr.ee/edpiskor Jim's Links (Patreon, Store, social media): https://linktr.ee/jimrugg ------------------------- E-NEWSLETTER: Keep up with all things Cartoonist Kayfabe through our newsletter! News, appearances, special offers, and more - signup here for free: https://cartoonistkayfabe.substack.com/ --------------------- SNAIL MAIL! Cartoonist Kayfabe, PO Box 3071, Munhall, Pa 15120 --------------------- T-SHIRTS and MERCH: https://shop.spreadshirt.com/cartoonist-kayfabe --------------------- Connect with us: Instagram: https://www.instagram.com/cartoonist.kayfabe/ Twitter: https://twitter.com/CartoonKayfabe Facebook: https://www.facebook.com/Cartoonist.Kayfabe Ed's Contact info: https://Patreon.com/edpiskor https://www.instagram.com/ed_piskor https://www.twitter.com/edpiskor https://www.amazon.com/Ed-Piskor/e/B00LDURW7A/ref=dp_byline_cont_book_1 Jim's contact info: https://www.patreon.com/jimrugg https://www.jimrugg.com/shop https://www.instagram.com/jimruggart https://www.twitter.com/jimruggart https://www.amazon.com/Jim-Rugg/e/B0034Q8PH2/ref=sr_tc_2_0?qid=1543440388&sr=1-2-ent

When Target embraces emerging categories, we take notice. The hosts discussed the retailer's new curated endcaps of non-alcoholic cocktails and wine and what it means for the nascent set of zero-proof beverages. They also spoke about why Nosh is broadening its coverage (and tapped a new leader to helm the vertical) and how a fast-growing hydration brand and popular sparkling water company have each taken a bigger-is-better approach to their packaging,  This episode also features an interview with Will Fabry, the master distiller for CraftCo, a Michigan-based portfolio company that owns several acclaimed spirit brands, including  Jos. A. Magnus and Fox & Oden. Fabry spoke about CraftCo's distilling philosophy, how it operates at the intersection of production, consumer demand and pricing, and how he attempts to improve upon and become more proficient in his role. Show notes: 0:40: More Green Juice & THC. LinkedIn Loves Monica. A ‘Perfect' Upgrade. Kids + Tuna… Hmmm. – The hosts shared their thoughts on healthy habits for 2024 and chatted about Nosh's expanded lens and the warm reception online for its new managing editor, Monica Watrous. They also spoke about Lemon Perfect's move to a larger bottle and Spindrift's similar shift, why they're not convinced that a tuna company's attempt to woo kids will work and a sports drink brand's new line of better-you-sodas. 28:24: Interview: Will Fabry, Master Distiller, CraftCo – A 20-plus year veteran of the culinary industry, Fabry joined CraftCo in 2018. In our conversation, he spoke about the impact of Michigan's climate in how the company's spirits are finished, how he and his team are consistently meeting the high expectations that consumers have come to expect from CraftCo brands, and how he managed Covid-driven supply chain challenges. Brands in this episode: Trader Joe's, Evolution Fresh, Pressed Juicery, Biena, The Good Crisp, Lesser Evil, Lemon Perfect, Spindrift, De Soi, Ghia, Kin Euphorics, Surely, Nooma, Coppercraft, Jos. A. Magnus, Fox & Oden

Guest: Dave Fabry, Ph.D. - Chief Hearing Health Officer at Starkey Dr. Fabry sits down with Dave this week to discuss: - His start as an aspiring Veterinarian, which ultimately exposed him to Audiology (training Chinchillas to "perform" an audiogram) - Dave's PhD, time at Walter Reed Army Medical Center, and Clinical Fellowship at The Mayo Clinic - The ACHIEVE study and Dave's big takeaways as both a clinician and researcher - The emerging use cases for biometric and acoustical data sets that are being captured and logged by Starkey's latest hearing aids - The evolution from machine learning-based applications to deep neural-net based applications for hearing aids - The case for why this is the most exciting time for Audiologists and Hearing Professionals broadly speaking, even with the existing and forthcoming challenges on the horizon - Career advice and words of wisdom from Dr. Fabry --- Send in a voice message: https://podcasters.spotify.com/pod/show/futureear/message

We were joined by Will Fabry who is a Distiller for Coppercraft. He talked to us about what makes Coppercraft different, talked about their culture, and more. See omnystudio.com/listener for privacy information.

Candice Fabry is BACK on Wednesday Wisdom to help us close out the year and she shares some great advice on how to wrap up 2023 and make sure you get a Great start on 2024! This is The Educational AD Podcast! --- Send in a voice message: https://podcasters.spotify.com/pod/show/educational-ad-podcast/message Support this podcast: https://podcasters.spotify.com/pod/show/educational-ad-podcast/support

CardioNerds cofounder Dr. Amit Goyal and cardiology fellows from the Cleveland Clinic (Drs. Alejandro Duran Crane, Gary Parizher, and Simrat Kaur) discuss the following case: A 61-year-old man presented with symptoms of heart failure and left ventricular hypertrophy. He was given a diagnosis of obstructive hypertrophic cardiomyopathy. He eventually underwent septal myectomy, mitral valve replacement, aortic aneurysm repair, and aortic valve replacement with findings of Fabry's disease on surgical pathology. The case discussion focuses on the differential diagnosis for LVH and covers Fabry disease as an HCM mimic. Expert commentary was provided by Dr. Angelika Ewrin. The episode audio was edited by student Dr. Diane Masket. US Cardiology Review is now the official journal of CardioNerds! Submit your manuscript here. 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 Media - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic Pearls - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic Left ventricular hypertrophy is a cardiac manifestation of several different systemic and cardiac processes, and its etiology should be clarified to avoid missed diagnosis and treatment opportunities. Fabry disease is a rare, X-linked inherited disease that can present cardiac and extra-cardiac manifestations, the former of which include hypertrophic cardiomyopathy, conduction defects, coronary artery disease, conduction abnormalities, arrhythmias, and heart failure.  The diagnosis of Fabry disease includes measurement of alpha-galactosidase enzyme activity as well as genetic testing to evaluate for pathogenic variants or variants of unknown significance in the GLA gene. Family members of patients diagnosed with Fabry disease should be screened based on the inheritance pattern.   Multimodality imaging can be helpful in the diagnosis of Fabry disease. Echocardiography can show left ventricular hypertrophy (LVH), reduced global strain, aortic and mitral valve thickening, and aortic root dilation with associated mild to moderate aortic regurgitation. Cardiac MRI can show hypertrophy of papillary muscles, mid-wall late gadolinium enhancement and low-native T1 signal.   The treatment of Fabry disease involves a multi-disciplinary approach with geneticists, nephrologists, cardiologists, nephrologists, and primary care doctors. Enzyme replacement therapy can delay the progression of cardiac disease.    Show Notes - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic What are the causes of left ventricular hypertrophy? LVH is extremely common. It is present in 15-20% of the general population, and is more common in Black individuals, the elderly, obese or hypertensive individuals, with most cases being secondary to hypertension and aortic valve stenosis. In general terms, it is helpful to divide the causes of LVH into three main groups: high afterload states, obstruction to LV ejection, and intrinsic myocardial problems. Increased afterload states include both primary and secondary hypertension and renal artery stenosis. Mechanical obstruction includes aortic stenosis, subaortic stenosis, and coarctation of the aorta. Lastly, several intrinsic problems of the myocardium can cause LV hypertrophy, such as athletic heart with physiological LVH, hypertrophic cardiomyopathy with or without outflow obstruction, and infiltrative or storage diseases such as cardiac amyloidosis, Fabry's disease, or Danon disease, among others.  How does Fabry disease present? Fabry disease is present in all races and is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that result in reduced alpha-galactosidase enzyme activity,

When Jaime Jo Wright sits down with Author Chris Fabry, they get real about the loss and grief of the silent and long goodbye that comes with Alzheimer's. They also discuss Fabry's new release. In Saving Grayson, bestselling and award-winning author Chris Fabry takes us into a world of love and loss, dementia and startling clarity, hope and despair. We shake our heads (and sometimes laugh) at Gray's crusty antics. We share his fear of what's to come. And we root for him and those who love him to find answers before the words become a distant memory.

Welcome back to the Golden Ticket! In this episode... Jimmy, Reese, and Isaiah are joined by University of Notre Dame pole vaulter Olivia Fabry, who has also grown a large following on social media. We were able to talk to her about how she deals with the attention on and off the track, and how it has changed her life. Thank you all for listening. Enjoy! We are proud to provide you with your... GOLDEN TICKET

In today's episode, Reuben Saltzman and Tessa Murry are joined by Chad Fabry from StructureSmart. The discussion focuses on the unique challenges and characteristics of home inspections in Western New York, particularly in areas with historic homes dating back to the 1700s and 1800s. Chad Fabry shares his expertise in dealing with older houses, highlighting issues related to basements, and crawl spaces, and finishing these spaces. The importance of understanding building science and relying on reliable sources of information for home inspections is emphasized. Chad also discusses his role in teaching continuing education classes for home inspectors in New York. The conversation provides valuable insights for both home inspectors and homeowners dealing with older homes and regional differences in home inspections.

Commentary by Dr. Valentin Fuster

Fetal geneticist Dr. Tamar Goldwaser and OB-GYN Dr. Nathan Fox dive into the nuances of carrier screening and why people might hesitate to receive them. Although uncommon, secondary findings are possible and a parent might find something unexpected in their own DNA from a genetic test. Additionally, the results of a genetic test could lead to difficult decisions like whether to consider IVF or freezing your eggs. In this podcast, they discuss the implications and possible next steps to consider for diseases like Fragile X Syndrome, Fabry disease, hemophilia, Gaucher disease, and other genetic mutations.