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🎒FREE Resource Package http://lectur.io/resourcepackage ► Sign up here and start your FREE 7-Day Trial: http://lectur.io/freetrialmed ► If you’re a medical educator or faculty member, visit: http://lectur.io/medytb2u 🟢 Lecturio Medical is your all-in-one medical school study companion! With our easy-to-follow videos, exam replicating clinical case questions and our comprehensive medical concept pages you will be best prepared for all your exams. Create your FREE account now! http://lectur.io/createyouraccountmed ► Keep learning about Immunology: http://lectur.io/immunologycoursepage ►In this video, we explore Ataxia-Telangiectasia (A-T), a genetic disorder that causes a combined deficiency of T-cells, immunoglobulins, and results in neurocutaneous findings. The condition is caused by mutations in the ATM gene (ataxia-telangiectasia mutated), which plays a crucial role in DNA repair. Because of this genetic defect, patients with A-T are at higher risk for immunodeficiencies, and they present with a range of symptoms that evolve over time. Children with A-T often begin to show truncal ataxia by the age of 2 years, and they may quickly become wheelchair-bound, usually by school age. One of the key early signs is the appearance of eye telangiectasias (complex capillary beds) typically by the age of 5. As the condition progresses, skin telangiectasias often emerge by the age of 7. A-T patients suffer from immunoglobulin deficiencies, which makes them highly susceptible to infections, particularly sinopulmonary infections. They are also at an increased risk of developing leukemia or lymphoma, which occurs in about 10% of cases. Due to the inability to repair DNA, these patients are more prone to developing cancer. Understanding the genetic background and clinical presentation of A-T is vital for early diagnosis and management. In this video, we break down the key features and challenges in diagnosing and treating Ataxia-Telangiectasia, an important topic for those studying pediatric immunology and genetic disorders. ► THE PROF 📚🏫 Dr. Brian Alverson is the Residency Director at Nemours Children's Hospital in Wilmington, Delaware and a Professor of Pediatrics at Jefferson University in Philadelphia. Until 2022, he has been a Professor of Pediatrics and Professor of Medical Science at Brown University, as well as the Director for the Division of Pediatric Hospital Medicine at Hasbro Children's Hospital, Rhode Island, USA. He obtained his MD at the University of Pennsylvania School of Medicine in 1999 and is currently also the Director of Undergraduate Pediatric Education at the Alpert School of Medicine at Brown University. Due to his achievements in pediatric education, he has won over 25 teaching awards at two Ivy League Medical Schools. Within Lecturio, Dr. Alverson teaches courses on Pediatrics. ► RELATED VIDEOS 📽️ If you liked this video and need some more information about the subject, you’ll probably want to check the following video out: • Understanding T-Cell Deficiencies: Congeni... ► INSTALL our free Lecturio app 📲 iTunes Store: https://app.adjust.com/z21zrf Play Store: https://app.adjust.com/b01fak ► LET’S CONNECT 🔔 • Facebook: / lecturio.medical.education.videos • Instagram: / lecturio_medical_videos • Pinterest: https://www.pinterest.de/lecturiomedical • LinkedIn: / lecturio-medical Learn more about Lecturio Medical 🩺 http://lectur.io/freecontentyt Disclaimer: Lecturio offers educational content for healthcare students to prepare for exams and/or to review knowledge gained at a Medical School. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment suggestions. Our resources are strictly for educational purposes. Always consult healthcare professionals for medical concerns. #MedicalEducation #MedicalStudents #Lecturio #USMLE #Immunology #TCellDeficiency #ImmuneDeficiencies