POPULARITY
Keine aufwendige Genetik, sondern ein Test für etwa 13 Euro zeigt den Alpha-1-Antitrypsin-Mangel. Die Klinik gibt wenig Hinweise. Betroffene Kinder und Jugendliche wirken kaum krank, selbst wenn die Leber bereits zirrhotisch ist. Damit es nicht erst so weit kommt, sollte bei Ikterus prolongatus oder unklarer Leberwerterhöhung genauer hingeschaut werden, lautet die Keymessage von Prof. Dr. Rainer Ganschow, Kinder- und Jugendarzt, Hepatologe und Leiter des Alpha1-Center in Bonn. Die Höhe des Serum-Alpha-1-Antitrypsin-Spiegels zeigt an, ob nur ein Allel oder beide betroffen sind. Heterozygote einmal in einem Alpha-1-Kinderzentrum vorstellen, gut beraten und im Blick behalten. Homozygote dagegen regelmäßig kontrollieren, denn es gibt Therapieoptionen, erfährt Moderator Dr. Axel Enninger. Die neue Webseite „alpha1bonn.de“ informiert über die Erkrankung und das neue bundesweite Register. Eltern betroffener „Alpha-1-KIDS“ speisen über die gleichnamige App selbst die Daten ein: ein einzigartiges Projekt – und wegweisend! Unsere Patienten-Ratgeber, darunter der Patientenratgeber „Warzen“, finden Sie unter https://www.infectopharm.com/fuer-patienten/patienten-ratgeber/. Muster anfordern: Eine Musteranforderung des genannten Produktes ist für Ärzte jeweils in einem Zeitraum von 8 Wochen ab dem ersten Erscheinungstag der Podcastfolge möglich: https://www.infectopharm.com/ma/verrucid/ Weitere Informationen zu Verrucid Fachinformation Verrucid Pflichtangaben Verrucid Link zum Transkript: https://www.infectopharm.com/consilium/podcast/podcast-paediatrie/ Kontakte: Feedback zum Podcast? podcast@infectopharm.com Homepage zum Podcast: www.infectopharm.com/consilium/podcast/ Für Fachkreise: www.wissenwirkt.com und App „Wissen wirkt.“ für Android und iOS Homepage InfectoPharm: www.infectopharm.com Disclaimer: Der consilium – Pädiatrie-Podcast dient der neutralen medizinischen Information und Fortbildung für Ärzte. Für die Inhalte sind der Moderator und die Gäste verantwortlich, sie unterliegen dem wissenschaftlichen Wandel des Faches. Änderungen sind vorbehalten. Impressum: consilium ist eine Marke von InfectoPharm Arzneimittel und Consilium GmbH Von-Humboldt-Str. 1 64646 Heppenheim Tel.: 06252 957000 Fax: 06252 958844 E-Mail: kontakt@infectopharm.com Geschäftsführer: Philipp Zöller (Vors.), Michael Gilster, Dr. Markus Rudolph, Dr. Aldo Ammendola Registergericht: Darmstadt – HRB 24623 USt.-IdNr.: DE 172949642 Verantwortlich für den Inhalt: Dr. Markus Rudolph
On the eve of the rare disease day, our guests discuss the compelling reasons why AATD stands out as the prime candidate for gene therapy. This talk addresses the pertinence of the subject in the current research landscape and highlight ongoing global trials opening the door for new opportunities in this field.FacultyAleksander Krag (Moderator)Aftab Ala (Faculty)Pavel Strnad (Faculty)Alice Turner (Faculty)Related episodesEASL Studio from EASL Congress 2023: Clinical trials in rare diseases – opportunities and challengesEASL Studio from ILC 2022: Rare Liver Diseases – A growing landscape of opportunities and challengesThis episode is scheduled in honour of the Rare Disease Day (29 February).All EASL Studio Podcasts are available on EASL Campus.
In this week's podcast, we will discuss the Alpha-1 Antitrypsin Deficiency (AATD). AATD is a relatively rare genetic disorder that affects both the liver and the lungs.There are no symptoms in early childhood. However, as people get older, they may develop lung problems, such as chronic obstructive pulmonary disease (COPD) or emphysema. Dr. Niket Sonpal will discuss the signs and symptoms, importance of early diagnosis and treatment for AATD. July 31, 2023 — Never pay for another course, workshop or seminar again. Become a member and get full access to every resource we've ever made. You'll also get 50 CAT 1 CMEs every calendar year as part of your membership. Click the link to learn more about becoming a member: Medgeeks All Access — Do you work in primary care medicine? Primary Care Medicine Essentials is our brand new program specifically designed for primary care providers to increase their core medical knowledge & improve patient flow optimization. Learn more here: Primary Care Essentials —
In this episode, we review the high-yield topic of Antitrypsin Deficiency from the Gastrointestinal section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets
This episode covers alpha-1 antitrypsin deficiency.Written notes can be found at https://zerotofinals.com/medicine/gastroenterology/aatdeficiency/ or in the gastroenterology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.
In this episode, we review the high-yield topic of Alpha-1 Antitrypsin Deficiency from the Gastrointestinal section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message
Alpha-1 antitrypsin deficiency is a genetic disease that commonly goes unrecognized. For some patients who have COPD or emphysema, alpha-1 is a predisposing condition they have that can be identified through a simple blood test. In this episode, Dr. James Stoller discusses this disease, effective therapies and novel treatments being investigated that include corrector molecules, gene editing approaches and more.
Wie wir unsere besten Freunde bei Laune halten (ja, sie leben in unserem Bauch). Wieso Käsebrot, Bier und Milchschokolade kein gutes Abendessen ergeben. Und was Glutamin, MCT-Öle und Propionsäure so spannend macht. „Darm mit Charme“ von Giulia Enders muss man als an Biohacking interessierter Mensch einmal gelesen haben. („Gesund beginnt im Mund“ von Biohacking-Zahnarzt Dominik Nischwitz ist die perfekte Ergänzung, halt von der anderen Seite.) Glutamin, mit dem man den Darm auskleiden und beruhigen kann (gerne 2-3 g vor jeder Mahlzeit), gibt es zum Beispiel hier: https://www.bulk.com/at/n-acetyl-l-glutamin-aut.html Durchaus sinnvoll können Binder sein, wenn man sich irgendwie braingefogged oder grundlos verkatert oder insgesamt vergiftet fühlt, zum Beispiel so etwas (aber nicht direkt zu Nahrungsergänzungsmitteln oder Medikamenten einnehmen): Zeolith zum Beispiel hier: https://www.zeonatura.de/ Aktivkohle zum Beispiel hier: https://www.vitalundfitmit100.de/aktivkohle-pulver Ob man einen Leaky Gut hat, kann man testen lassen, zum Beispiel bei Biovis anhand der Marker Zonulin, Alpha-1-Antitrypsin, sIgA, Histamin und Calprotectin: https://www.biovis.eu/wp-content/uploads/Biovis_Leaky_gut_2018-DE.pdfAuch Fruktose-Intoleranzen kann man diagnostisch auf die Spur kommen, zum Beispiel hier: https://www.dr-kirkamm.de/labordiagnostik/labortest/fruktose-h2-atemtest https://terrywahls.com/ ist die Website von Terry Wahls, die das Wahls-Protokoll begründet hat. Erste Adresse bei Verdacht auf Nahrungsmittelunverträglichkeiten! Alles zum Bristol Stool Chart gibt es hier: https://de.wikipedia.org/wiki/Bristol-Stuhlformen-SkalaState of the Art im Bereich Mikrobiom-Analyse ist das amerikanische Unternehmen Viome (https://www.viome.com/). Leider wirklich nur amerikanisch, deswegen muss man die eigenen Stoffwechselendprodukte in die USA schicken, inklusive Zoll. (Wie die Arbeit der entsprechenden Beamten aussieht, überlassen wir Ihrer Fantasie.) MCT-Öle und C8-Öle und MCT-Pulver gibt es zum Beispiel hier:https://www.flowgrade.de/shop/flowgrade-c8-oel-500-ml-100-mct-aus-caprylsaeure/oder hier: https://shop.tulipans.com/kaffee/mct-oel-c8-c10-glasflasche_1137_1736 Propionsäure wird in ein bis zwei Jahren ein Biohacking-Trend sein, aber jetzt schon gibt es sie hier: https://www.zeinpharma.de/Propionsaeure-Kapseln-500-mg/13348Und wer nachlesen möchte, ob Stefan korrekt vorgelesen hat: https://de.wikipedia.org/wiki/PropionsäureAndreas Breitfelds Website: https://breitfeld-biohacking.com Das ausführliche Porträt über Andreas Breitfeld in The Red Bulletin (Autor, übrigens: Stefan Wagner): https://www.redbull.com/at-de/theredbulletin/biohacking-andreas-breitfeld Das Biohacking-Special, das Andreas Breitfeld und Stefan Wagner gemeinsam für The Red Bulletin Innovator produziert haben: https://issuu.com/redbulletin.com/docs/0221_trbi_at_lowres Stefan Wagners Biohacking-Kolumne im „carpe diem“: https://www.carpediem.life/wagner
Audible Article by Anandini Suri, Dhiren Patel, Jeffery Teckman
Der α1-Antitrypsin-Mangel (Synonyme: Laurell-Eriksson-Syndrom, Proteaseinhibitormangel, AAT-Defizit) ist eine erbliche Stoffwechselerkrankung aufgrund eines Polymorphismus des Proteinase-Systems. Ein Mangel an Proteaseinhibitoren kann zu Leberzirrhose und Lungenemphysem führen. Eine bedeutsame Erkrankung die leicht mit der COPD verwechselbar ist. Viel Freude mit unserem neuen Podcast. Euer Dozent Thomas G. Montag
Join moderators Viren Kaul, MD, and Neha Dangayach, MD, MSCR, and journal CHEST® authors James Ashenhurst, PhD, and James K. Stoller, MD, as they discuss the article, "Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report," which was published in the February issue. DOI: https://doi.org/10.1016/j.chest.2021.09.041
Article discussed in today's episode: Alpha-1 Antitrypsin MZ Heterozygosity is an Endotype of Chronic Obstructive Pulmonary Disease
Adam Cox is joined by Karen O'Hara, Chair of patient advocacy group, Alpha-1 UK Support Group, to discuss what Alpha-1 Antitrypsin Deficiency (AATD) is and the causes of the condition. They look at why is can be so difficult for sufferers to get a diagnosis, and Karen explains her own experience living with AATD. https://alpha1.org.uk
Dr. rer. nat. Elke Jaspers und Dr. med. Victoria Rosenbach gehen im Podcast zum Online-Seminar auf die Mikrobiota- und Schleimhaut-Diagnostik ein und erläutern, warum die Kombination beider Diagnostik-Bereiche so zielführend ist. Dabei stehen die Schleimhaut-Parameter Zonulin, α-1-Antitrypsin, kurzkettige Fettsäuren und sIgA im Vordergrund.
CME credits: 1.00 Valid until: 24-08-2022 Claim your CME credit at https://reachmd.com/programs/cme/recognizing-and-treating-alpha-1-antitrypsin-deficiency-aatd/12765/ Alpha-1 antitrypsin deficiency (AATD) is a common yet underdiagnosed genetic disorder. Led by 2 AATD experts, this activity will address the most current information on the screening, diagnosis, and treatment of this potentially fatal disorder. AATD primarily affects the lungs and liver and requires a multidisciplinary care approach. Faculty will review patients who are at risk for AATD, its clinical manifestations (including similarities with COPD), and possible consequences to the lung and liver. Current treatment involves augmentation therapy with IV administration of AAT; there are ongoing investigations into other potential treatments. Patient cases will help clinicians apply the foundational information to clinical practice.
CME credits: 1.00 Valid until: 24-08-2022 Claim your CME credit at https://reachmd.com/programs/cme/recognizing-and-treating-alpha-1-antitrypsin-deficiency-aatd/12765/ Alpha-1 antitrypsin deficiency (AATD) is a common yet underdiagnosed genetic disorder. Led by 2 AATD experts, this activity will address the most current information on the screening, diagnosis, and treatment of this potentially fatal disorder. AATD primarily affects the lungs and liver and requires a multidisciplinary care approach. Faculty will review patients who are at risk for AATD, its clinical manifestations (including similarities with COPD), and possible consequences to the lung and liver. Current treatment involves augmentation therapy with IV administration of AAT; there are ongoing investigations into other potential treatments. Patient cases will help clinicians apply the foundational information to clinical practice.
Alpha-1 antitrypsin (A1AT) deficiency is a genetic disorder affecting predominantly the lungs and liver. Although it is considered uncommon, there is some evidence to suggest it is under recognised and under diagnosed. A1AT itself is a protease inhibitor that helps protect the lung and other tissues. Liver disease is more likely to be the predominant presenting feature in kids, but many people with A1AT enter adulthood without a diagnosis. Links and resources: Follow us on Instagram @yourekiddingrightdoctors Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/ Our email is yourekiddingrightpod@gmail.com Make sure you hit SUBSCRIBE/FOLLOW so you don't miss out on any pearls of wisdom and RATE if you can to help other people find us! (This isn't individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
This episode covers alpha antitrypsin deficiency!
This week I had the privilege of sitting down with a multi award winning author, international traveler/ speaker and business owner. Julie has been a friend of mine for over a decade and I am so excited for you guys to check out this episode and see what inspired her to write this amazing book. Julie suffers from an Alpha 1 Antitrypsin deficiency which she had no idea about because she was adopted at a very young age. Join us in this episode to learn more. We also talk about life insurance and how important of a tool it can be in your life so stay tuned to the very end to check that out. Thanks for tuning in and I hope you enjoy.http://The50YearSecret.com/Sound effects obtained from https://www.zapsplat.comSupport the show (https://www.buymeacoffee.com/thefirepodcast)
This episode covers alpha-1 antitrypsin deficiency!
Look at your story from an outsider's point of view when sharing it on paper. Today's featured award-winning author is speaker, world traveler, and Alpha-1 Antitrypsin advocate, Julie MacNeil. Julie and I talk about her 1st book that talks about how she discovered her genetic disease of Alpha-1 and more! Key Takeaways: Life's an adventure. Get a DNA test. Give yourself permission to heal from your past. Find a way to enjoy your life. Julie's Site: https://the50yearsecret.com Julie's Book: https://www.amazon.com/50-Year-Secret-Julie-MacNeil/dp/1633937380/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=&sr=&pldnSite=1 Alpha-1 Foundation: https://www.alpha1.org/ The opening track is titled, "Pure White Field (SfEX2)" by Rukunetsu aka Project R. To listen and download the entire track, click the following link. https://soundcloud.com/rukunetsu/pure-white-field-sfex2 Related Episodes: 105 - "A Short Path to Change" with Jenny Mannion (@jennymannion): http://goingnorth.libsyn.com/105-a-short-path-to-change-with-jenny-mannion-jennymannion 107 - "A Life By Design" with Kirsty Salisbury (@kirstysalis): http://goingnorth.libsyn.com/107-a-life-by-design-with-kirsty-salisbury-kirstysalis 118 - "Living Full Out" with Nancy Solari (@NancySolari): http://goingnorth.libsyn.com/118-living-full-out-with-nancy-solari-nancysolari 171 - "Breaking Into My Life" with Michelle Dickinson (@mdickinson13): http://goingnorth.libsyn.com/171-breaking-into-my-life-with-michelle-dickinson-mdickinson13 202 - "Your Divine Human Blueprint" with Julie Renee Doering (@RevJulieRenee): http://goingnorth.libsyn.com/202-your-divine-human-blueprint-with-julie-renee-doering-revjulierenee
Look at your story from an outsider’s point of view when sharing it on paper. Today’s featured award-winning author is speaker, world traveler, and Alpha-1 Antitrypsin advocate, Julie MacNeil. Julie and I talk about her 1st book that talks about how she discovered her genetic disease of Alpha-1 and more! Key Takeaways: Life’s an adventure. Get a DNA test. Give yourself permission to heal from your past. Find a way to enjoy your life. Julie’s Site: https://the50yearsecret.com Julie’s Book: https://www.amazon.com/50-Year-Secret-Julie-MacNeil/dp/1633937380/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=&sr=&pldnSite=1 Alpha-1 Foundation: https://www.alpha1.org/ The opening track is titled, "Pure White Field (SfEX2)" by Rukunetsu aka Project R. To listen and download the entire track, click the following link. https://soundcloud.com/rukunetsu/pure-white-field-sfex2 Related Episodes: 105 - "A Short Path to Change" with Jenny Mannion (@jennymannion): http://goingnorth.libsyn.com/105-a-short-path-to-change-with-jenny-mannion-jennymannion 107 - "A Life By Design" with Kirsty Salisbury (@kirstysalis): http://goingnorth.libsyn.com/107-a-life-by-design-with-kirsty-salisbury-kirstysalis 118 - "Living Full Out" with Nancy Solari (@NancySolari): http://goingnorth.libsyn.com/118-living-full-out-with-nancy-solari-nancysolari 171 - "Breaking Into My Life" with Michelle Dickinson (@mdickinson13): http://goingnorth.libsyn.com/171-breaking-into-my-life-with-michelle-dickinson-mdickinson13 202 - "Your Divine Human Blueprint" with Julie Renee Doering (@RevJulieRenee): http://goingnorth.libsyn.com/202-your-divine-human-blueprint-with-julie-renee-doering-revjulierenee
In dieser Folge meines Podcasts spreche ich mit Birgit Schröder über wichtige Laborparameter in der Ernährungsberatung - Zonulin, Alpha-1-Anttrypsin, Calprotectin und CRP und darüber, welchen Aufschluss diese Werte in Bezug auf Fragestellungen der Ernährungsberatung geben können. Praxis am Sachsenring | Birgit Schroeder Sachsenring 57 D 50677 Köln Telefon +49 221 20437755 mail@praxisamsachsenring.de www.praxisamsachsenring.de Carmen-Daniela Leuschen Ernährungsberaterin der spt. education Westring 29 63110 Rodgau Telefon: +49 (0)177-30 56 987 E-Mail: info@dein-food-coach.de www.dein-food-coach.de Basics: meine Facebook-Seite: https://www.facebook.com/Calakocht/ meine Ernährungsberatungswebsite: www.dein-food-coach.de meine Rezeptsammlungen: www.darmfreundlich-essen.de meine facebook-Gruppe: https://www.facebook.com/groups/2300427960192235/?source_id=193942190651592 mein Instagramm: https://www.instagram.com/calakocht/ mein Twitter: https://twitter.com/Calakocht per Email erreichst du mich über: info@cala-kocht.de Link zu unserer Partnerseite: https://www.cala-kocht.de/?page_id=5748
Heute geht es um wieder um ein sehr sehr wichtiges Thema, das bald zur dritthäufigsten Todesursache gehören wird, COPD, englisch: chronic obstructive lung disease = chronisch obstruktive Lungenerkrankung, eigentlich ein Sammelbegriff für chronisch zunehmende Atemstörung // Gast Edwin Kepner Silverman, MD, PhD Chief, Channing Division of Network Medicine Professor, Harvard Medical School Pulmonary and Critical Care, Medicine Brigham and Women's Hospital Boston, MA, USA Warum wichtig? Die COPD ist nicht nur die häufigste chronische Lungenerkrankung, sondern gehört weltweit zu den häufigsten Erkrankungen überhaupt. Nach Schätzungen der WHO wird die COPD bis zum Jahr 2020 die dritthäufigste Todesursache nach Herzerkrankungen und Schlaganfall sein. Die durch COPD bedingten Todesfälle und Berentungen nehmen stetig zu. In Deutschland schätzungsweise 15.000 Männer und 11.000 Frauen pro Jahr an den Folgen einer COPD, das sind 43 Prozent der durch Krankheiten des Atmungssystems bedingten Todesursachen. Nach ärztlicher Einschätzung beträgt die Inzidenz etwa sieben Prozent, bei älteren Männern steigt sie auf 15 Prozent. Entstehung/Symptome?Eher Sammelbegriff Atemwegsobstruktion auf der Grundlage einer chronischen Bronchitis oder eines Lungenemphysems. Unterschied zu Asthma Kinder, allergisch, aber auch Asthma-COPD overlap syndrome und Asthmatiker, die COPD-ähnliche Symptome entwickeln Typische Symptome sind Zyklen von Entzündungen (Ursache unbekannt) Exazerbationen: viral → bakteriell (evtl. chronisch Makrolidantibiotioka) exzessive Schleimproduktion, Husten und Atemnot. Ursachen?Rauchen Luftverschmutzung (Feinstaub und NO2): https://www.aerzteblatt.de/nachrichten/104487/Luftverschmutzung-verschlechtert-Lungenfunktion-und-foerdert-COPD Global initiative for chronic obstructive lung disease (2016) Global strategy for the diagnosis, management and prevention of COPD. Available at: http://goldcopd.org/global-strategy-diagnosis-management-prevention-copd-2016/ rezidivierende bronchiale Infekte In seltenen Fällen, ein Mangel an α1-Antitrypsin = die Lungenpolizei, die Eiweißabbauende Enzyme (Proteasen) in der Lunge hemmt, messbar durch Gendefekt oder elektronische Nasen Wohl weitere genetische Risikogene (Systemmedizin) NICHT wie bei Asthma: häufig allergisch, Nicht-medikamentös Kein Rauchen COPD-Progression kann damit gestoppt werden, aber was an Lungengewebe kaputt ist, bleibt kaputt. https://www.deutsche-apotheker-zeitung.de/_Resources/Persistent/b/7/d/7/b7d75f7973876ff871bdfc5b5ae51b393c720aee/k4_1240_353269_354325-800x500.jpg Reduktion der Luftverschmutzung https://www.aerzteblatt.de/nachrichten/104487/Luftverschmutzung-verschlechtert-Lungenfunktion-und-foerdert-COPD Lungen-Rehabilitation Lebensstil, Ernährung AM Obwohl COPD definiert dadurch, dass eigentlich nicht auf Bronchien-erweiternde Stoffe reagierend, werden diese doch fast al einzige Therapie verwendet. Daneben noch Cortison. Infektionsvorbeugung, chron. Antibiotika (Makrolide: erythromycin or azithromycin) 6-12 Mo., länger wieder Wirkungsverlust und nachteilig https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0121257 INTERVIEW - Zusammenfassung: // Häufigste Lungenerkrankung, Inzidenz steigt dramatisch. Häufigste Ursache Rauchen, das weltweit noch immer zunimmt (soziale Verhältnisse) In letzter Zeit Luftverunreinigung Ursachen unbekannt, eher Sammelbegriff Therapie rein symptomatisch: Bronchodilatatoren und Sauerstoff Bei Exazerbationen: Glucocorticoide und Sauerstoff. Lungen Rehabilitation Gesundner Lebensstil, gesunde Ernährung Exazerbationen früh und effektiv behandeln, evtl. chronisch Makrolidantibiotika E-Zigaretten (kommt noch gesondert) alarmierend, akute Lungenfunktionsstörungen bis hin zu Todesfällen,neben Nikotin, das selbst schon ungesund ist, Inhalation von Geschmacks-Stoffen in hohen ...
Alex Franciosi talks with The Lancet Respiratory Medicine about the pitfalls and caveats of testing for α1-antitrypsin deficiency.
a report on Alpha-1 Antitrypsin Deficiency.
In this episode I cover alpha 1 antitrypsin deficiency.If you want to follow along with written notes on alpha 1 antitrypsin deficiency go to zerotofinals.com/a1ad or find the gastroenterology section in the Zero to Finals medicine book.This episode covers the pathophysiology, presentation, diagnosis, complications and management of alpha 1 antitrypsin deficiency.The audio in the episode was expertly edited by Harry Watchman.
Alabama has a high rate of emphysema, and healthy people who know they have Alpha-1 in their family, should be tested for the gene to slow or prevent deterioration of health. As delayed diagnosis is thought to be associated with adverse outcomes, it is important that providers know the facts about Alpha-1 to council their patients on the importance of testing so they can make the lifestyle adjustments necessary to achieve the best outcomes. Mike Wells, MD, discusses the Alpha-1 Clinic at UAB Medicine and when to refer.
Alpha-1 researcher and clinician Irina Petrache, MD talks with Alpha-1 Foundation Editorial Manager Alejandro Hernandez Padilla about the people and things that motivate her and those in her lab to keep pressing towards a cure and better treatments for people affected by Alpha-1. This episode is co-hosted by Martin Zamora, MD, scientific advisor for the Alpha-1 Foundation Board of Directors. Learn more at www.alpha1.org
In this episode of the Alpha-1-To-One Podcast, Karen Erickson shares the unlikely, but all too common story of how she was finally diagnosed with Alpha-1 Antitrypsin Deficiency. Also, Robert Sandhaus, MD, PhD answers a question about augmentation therapy. Learn more about Alpha-1 and connect with Karen Erickson at http://alpha1.org/podcast.
Welcome back to our weekend Cabral HouseCall shows! This is where we answer our community's wellness, weight loss, and anti-aging questions to help people get back on track! Check out today's questions: Chrystelle: Hi Stephen, I heard your podcast & I thought "finally! Someone that can help me!" I want to give you the full story (so you have all of the facts) but the short version so I don't write a story book. So here goes - I had a milk allergy as a child. I couldn't drink it without getting sick and sometimes leading to bronchitis. Milk was reintroduced back in my diet in my early years & I was told I had outgrown the allergy. I drank milk for another 20 years before realising it doesn't agree with me. It bloats and constipates me. And I was probably bloated for 20 years. I also had asthma and a child and plenty of medication to go along with it. I also took adhd medication at the age of 14 until o refused to keep taking it. Since then, I have taken the pill, I have had 3 Caesarean's, a d&c because of a missed miscarriage, a breast reduction & wisdom teeth removed surgically. So again, plenty of medication. Over two years ago I entered a body building competition. Where I reached about 8-10% body fat. I was eating more than most in the same position but I was also eating 175g of protein a day in every form, shakes, bars, meat, canned fish. I ate a lot more rubbish that I usually would. I was training up to 8 times a week. I started noticing plenty of digestive issues after the comp. I'm unsure if they were caused by the prep or if they came back as I introduced foods that I had cut out. To help, I cut out gluten, dairy and rice. It seemed to help but as time went on, I started to react to more and more foods. I would get bloated or more commonly headaches, pimples on my facd, get tired and change of mood. I tried cutting out all grains, sugar and starchy carbs. Doing this I lost weight & the boating and headaches stopped but then I became constipated and not much energy and not sleeping well. I have had inconsistent bowel movements for as long as I can remember. I have drank alcohol but very rarely these days & also look drugs as a teenager. Last year I was diagnosed with irritable bowel syndrome by my gp. Determined to find out why (the doctors aren't much help) I did my own research and I thought I might have candida overgrowth. I tried the candida diet which did not help. I gained weight and felt awful and reacted to more foods. Wow as I write all of this down, I realise I have put my body through a lot! But I just want to feel good again. I would love consistent moods, energy & no more headaches and bloating. I hope you can help me figure out my dishes, heal my body and point me in the right direction. Kind Regards, Chrystelle Anonymous: Hi Dr. Cabral! My husband and I are healthy 27 year olds who want to try for a baby soon. Do you have any tips (aside from what you have given in previous podcasts of which I will check) on a healthy pregnancy? I’m doing the 14 day Cabral Detox before we try and wondered if that is a wise choice. In my mind, I’m removing toxins and preparing a healthy place for our baby to grow. I’m a petite 119 lb woman and I hope I can do the right things to strengthen myself in the process and eventually for giving birth. Is there a book you could recommend that tracks what to be mindful of each month to pursue an ideal health for my family and I? Thank you so much for all you do! Melissa:Hi Team, I started day 1 of the 7-week detox today. I'm curious about sugar being listed as "other" ingredients. If the whole point is to reset liver and avoid sugary fruits to help lose weight, why is this an ingredient in the protein powder? Thank you, Mel Jess: Hi dr Cabral, I can’t thank you enough for you’re generosity in sharing your wealth of knowledge! I heard you on Melissa ambrossini’s podcast and listen to you every day in the car! Was hoping you could shed some light on the topic of food addiction and practical ways to beat it? OR pyrolles, undermethylation and copper/zinc imbalance which I have recently been diagnosed with. Would love to hear your thoughts on how to overcome these imbalances as I know a major overhaul of my diet and lifestyle is necessary. Thanks again, Jess Bill: Hi Dr Cabral, Long time listener, big fan of the show. What are your recommendations for supplements on your website to take if I can’t afford the candida protocol at this time? Thanks! Robert: Dr. Cabral, First of all, I enjoy your podcast. I'd like to leave some general feedback about the podcast sound. Lately the podcast is only on the left channel, nothing from the right. I randomly choose an older podcast, and it didn't have this problem. So, please adjust your equipment so we can enjoy the podcast in both ears. Thank you. Rosie: Hi Dr Cabral, I have been told I have an enlarged thyroid by my past few primary care physicians. Every year I end up taking a blood test to check my thyroid levels as well as an ultrasound to make sure there aren’t any growths. My tests always come back normal and I am always told just to continue to keep an eye on it. Is this something I should be concerned about or do some people just happen to have a larger than normal thyroid? I would like to find out what the root cause of this could be. I’m 36 years old and pretty healthy, no major health issues. I would appreciate any information/advice you could give me! Kathryn: Hi Stephen, A friend turned me onto your podcasts and I've been listening to many episodes and then decided to do a search of every episode you mention SIBO and have been going through those. I've had ongoing digestive issues for 6 years now. At one point I couldn't eat anything without getting sick. I changed my diet to a whole food plant-based lifestyle (no animal product at all except for honey occasionally with my oatmeal) and that helped tremendously but I still have episodes about 1 time a week or so. I've done an ALCAT food sensitivity test and stay away from all foods that cause a severe or moderate reaction but still occasionally eat the mild reaction foods in very small quantities, those don't seem to be a problem. I've had a organic acids test done recommended by my naturopath which showed SIBO and candida overgrowth. That was a year ago, since I was training heavily for an Ironman we decided to go the route of fixing some of the other problems like nutrition deficiencies and thyroid problems. Right now I take a vitamin D supplement, Vitamin B12 complex liquid, I just started Iron, and I've been taking Saint John's wert and HPA adapt for over 6 months now. I am again heavy into ironman training with my race being a little less than 3 months away, April 28th. I'm still having symptoms almost once a week where I just feel like my body is not digesting the food and it just sits there until I become nauseous or I have diarrhea. through listening to your podcast I've heard you say over and over again to use the Candida and bacterial protocol and I'm considering it. Should I wait until after the Ironman since its a 12 week protocol and I have to eat certain foods during training to sustain my workouts? my workouts are about 4-6 hour bike rides and 2-4 hour runs on the weekend totaling about 12-17 hours of endurance training a week. Thank you for all your information you provide. I'll be bringing you up at my next appoint with my naturopath as she uses the same supplements you do. Thank You, Kathryn Lauren: I have a question about my 60 year old mother. She has recently been diagnosed with Alpha-1 Antitrypsin Deficiency. They found a spot on her lungs and are telling her its emphysema. She has never smoked. She was around her Nana who was a smoker but that was when younger and only when they visited her weekly. Alpha-1 Antitrypsin Deficiency is said to be a genetic disorder but I didn't know if its 'turned on' by inflammation. Is this something she can take care of with diet? She has had asthma for years, steroids and many breathing treatments multiple times a year. She also has been on depression pills for at least 25 years and fibromyalgia for 20 years. She also only has bowel movements a few times a week. She has the symptoms of parasites and candida (low appetite nauseous and high sugar cravings). I would like her to do the OAT test. Wondering what your suggestion is and what you know about Alpha-1 Antitrypsin Deficiency. Thank you! Thank you for tuning into today's Cabral HouseCall and be sure to check back tomorrow where we answer more of our community’s questions! - - - Show Notes & Resources: http://StephenCabral.com/806 - - - Get Your Question Answered: http://StephenCabral.com/askcabral
On the inaugural episode of the Alpha-1-To-One Podcast, this month's host, Maria Virginia Deliz, sits down with caregiver and Alpha-1 Foundation staff member, Cathey Horsak. Horsak shares the story of how she became involved with the Alpha-1 community after her husband's death due to liver disease caused by the rare genetic condition, Alpha-1 Antitrypsin Deficiency. She also shares why caregivers to play a major role. You can reach Cathey Horsak at 800-245-6809 or chorsak@alpha1.org. The Alpha-1-To-One Podcast is a production of the Alpha-1 Foundation. Learn more at www.alpha1.org. The podcast is sponsored by: AlphaNet CSL Behring Dohmen Life Science Services Grifols
Check out Life For a Child and maybe consider donating to help support families that have kids with type 1 diabetes in low income countries Support us on Patreon Join us on Discord Alpha-1 antitrypsin
As part of the November issue, the European Respiratory Journal presents the latest in its series of podcasts. Chief editor Marc Humbert discusses the ERS statement on the diagnosis and treatment of pulmonary disease caused by α1-antitrypsin deficiency with Task Force chairs Marc Miravitlles (Hospital Universitari Vall d'Hebron, Barcelona, Spain) and Robert A. Stockley (Queen Elizabeth Hospital, Birmingham, UK).
The author of this month's Special Feature marking the 50th anniversary of the first publication of cases of alpha-1-antitrypsin deficiency (AATD), Robert A. Stockley, MD, joins Kenneth R. Chapman, MD, and CHEST Podcast Editor, D. Kyle Hogarth, MD, FCCP, to review the impact that this research has had on respiratory medicine and clinical practice. Since this first publication in 1963, among other advances, AATD research has identified the most common genetic susceptibility factor for emphysema, developed the protein structural biology to repair the defect, distinguished the serinopathies in disease pathophysiology affecting other organs, and validated the role of CT scanning and its acceptance as a primary outcome for clinical trials. Duration: 38:11 minutes
Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 14/19
Cysteinproteasen, zu denen zahlreiche Cathepsine zählen, spielen eine wichtige Rolle in (patho)physiologischen Prozessen, die mit Gewebedestruktion verbunden sind. In diesem Kontext wurden vor allem Cathepsin B extrazelluläre Funktionen bei der Tumorinvasion und -metastasierung zugeschrieben. Es häufen sich jedoch Hinweise darauf, dass auch Cathepsin X an invasiven Vorgängen beteiligt ist. Cathepsin X wird unter anderem in Zellen der Immunabwehr sowie in maligne entarteten Organzellen stark exprimiert. Eine erhöhte Expression des Enzyms wurde vor allem beim Prostatakarzinom beschrieben. Zu Beginn dieser Arbeit war jedoch wenig über die Mecha-nismen bekannt, die für diese Überexpression verantwortlich ist. Durch Stimulationsversuche konnte in einem Prostatakarzinom-Zellmodell (LNCaP) gezeigt werden, dass weder das Androgen Testosteron, welches essentiell für die Entwicklung eines Prostatakarzinoms ist, noch Proteine der extrazellulären Matrix (EZM) in der Lage sind, die intra- und extrazelluläre (Pro)Cathepsin X-Konzentration zu steigern. Ob Cathepsin X bei der Tumorinvasion eine maßgebliche Rolle spielt, war zu Beginn der vor-liegenden Arbeit ebenfalls weitgehend unbekannt. Deshalb wurde die Protease unter Anwen-dung der siRNA-Technik in Prostatakarzinomzellen (PC-3) herunter reguliert und die Zellen im Anschluss auf ihr Invasionsvermögen analysiert. Dabei konnte nach Niederregulation von (Pro)Cathepsin X eine signifikant verminderte Invasivität der Zellen beobachtet werden. Da dieses Enzym nur Carboxypeptidase-Aktivität besitzt, muss eine Beinflussung der Zellinvasivität durch direkte Degradation der EZM allerdings ausgeschlossen werden. Eine mögliche Wirkweise wäre, dass Procathepsin X über dessen RGD-Sequenz an Zelloberflächenrezeptoren bindet und durch Aktivierung von Signaltransduktionswegen die Invasionsfähigkeit der Zellen beeinflusst. In Versuchen mit humanem Plasma und konditio-niertem Zellmedium konnte gezeigt werden, dass Procathepsin X extrazellulär vorkommt und somit theoretisch RGD-abhängig an Adhäsionsmoleküle vom Integrin-Typ binden kann. Im Verlauf dieser Arbeit mehrten sich auch Hinweise darauf, dass Procathepsin X in der Lage ist an EZM- und Plasmaproteine zu binden. Experimente mit rekombinanten Komponenten zeigten eine eindeutige Interaktion mit dem EZM-Protein Fibronektin. Zudem scheint Pro-cathepsin X mit dem Serpin α1-Antitrypsin einen SDS-stabilen Komplex zu bilden. Die ent-sprechenden Bindungsstellen müssen in weiteren Versuchen identifiziert sowie die bio-logische Bedeutung dieser Interaktionen ermittelt werden.
Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 09/19
Tue, 28 Oct 2008 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/9240/ https://edoc.ub.uni-muenchen.de/9240/1/Petersen_Tobias.pdf Petersen, Tobias
Medizinische Fakultät - Digitale Hochschulschriften der LMU - Teil 01/19
Bei geschwächter Abwehrlage wird die Morbidität und Mortalität wesentlich von pulmonalen Komplikationen mitbestimmt. Ein Ziel dieser Arbeit war es, die Zusammensetzung und Funktion des pulmonalen Surfactants unter diesen Bedingungen zu untersuchen. Dazu wur-den die bronchoalveolären Lavageflüssigkeiten von Kindern mit malignen Erkrankungen, Immunsuppression, pulmonalen Infiltraten und therapieresistentem Fieber mit denen von pulmonal gesunden Kindern verglichen. Die SP-A-Konzentration war in der Patientengruppe deutlich erhöht, seine Funktion schien jedoch kaum verändert. Während auch die Werte für das SP-C und die kleinen Surfactant-Aggregate bei den Patienten deutlich erhöht waren, gab es kaum Unterschiede bei SP-B, SP-D, den großen Surfactant-Aggregaten und der Oberflächenaktivität. Diese Daten lassen eine adaptiv gesteigerte lokale Abwehr und ein System zur Erhaltung der Oberflächenaktivität unter den beschriebenen klinischen Bedingungen vermuten. Das zweite Ziel dieser Arbeit war die Entwicklung einer Methode zur Visualisierung von humanem SP-C mittels Immundetektion nach Dünnschichtchromatographie und Gelelektro-phorese. Eine quantitative Darstellung des SP-C in Lavageflüssigkeiten war mit keinem der beiden Verfahren möglich, eine empfindliche semiquantitative Detektion von rekombinan-tem SP-C mittels Dünnschichtchromatographie konnte jedoch erreicht werden. Ein weiteres Ziel war es, die Lavageproteine von pulmonal gesunden Kindern und Patienten gemäß ihrem Molekulargewicht und ihrem isoelektrischen Punkt zweidimensional darzustel-len, zu vergleichen und die besonders bei Kindern sehr begrenzten Mengen an Lavageflüs-sigkeit besser nutzbar zu machen. Folgende signifikante Änderungen wurden beobachtet: Bei den Patienten war das a1-Antitrypsin vermehrt, der Anteil an Ig-bindendem Faktor, Transthyretin und Cystatin S schien jedoch vermindert zu sein. Im Bereich der kleinen sauren Proteine behinderte der relativ hohe Anteil an Immunglobulinketten die Separation und Identifikation einzelner Proteine. Diese Daten zeigen, dass es bei Kindern mit malig-nen Erkrankungen, Immunsuppression, pulmonalen Infiltraten und therapieresistentem Fieber deutliche Veränderungen in der Zusammensetzung der bronchoalveolären Lavage-flüssigkeit gibt. Eine Vorfraktionierung der Proben könnte für die Identifikation der einzelnen Proteine ebenso hilfreich sein wie die Verwendung eines eng begrenzten pH-Bereiches bei der isoelektrischen Fokussierung. Diese Arbeit charakterisiert funktionelle und biochemische Aspekte des pulmonalen Sur-factantsystems bei Kindern mit malignen Erkrankungen, Immunsuppression, pulmonalen Infiltraten und therapieresistentem Fieber.