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X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The disease was first elucidated by Bruton in 1952, for whom the gene is named. BTK is critical to the maturation of pre–B cells to differentiating mature B cells. The BTK gene defect has been mapped to the long arm of the X chromosome at band Xq21.3 to Xq22, spanning 37.5kb with 19 exons forming 659 amino acids to complete the BTK cytosolic tyrosine kinase. A database of BTK mutations (BTKbase: Mutation registry for X-linked agammaglobulinemia) lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. No single mutation accounts for more than 3% of mutations in patients. In addition to mutations, a number of variants or polymorphisms have been found.
MRCPCH Clinical Revision - more videos at http://mrcpch.paediatrics.co.uk
Revise for your MRCPCH Clinical exam, with videos and high quality content created by the London Paediatrics Trainees Committee.
Examiner: Jonathan Round
Candidate: Amitav Parida
Filming: Mary Chesshyre, Huey Miin Lee, Chris Kelly
Thank you to the Evelina Children's Hospital for allowing us to film during their MRCPCH Revision Course (https://www.guysandstthomaseve....nts.co.uk/mrcpch-cli
Addison's disease is a disorder that occurs when your body produces insufficient amounts of certain hormones produced by your adrenal glands. In Addison's disease, your adrenal glands produce too little cortisol and often insufficient levels of aldosterone as well. Also called adrenal insufficiency, Addison's disease occurs in all age groups and affects both sexes. Addison's disease can be life-threatening. Treatment for Addison's disease involves taking hormones to replace the insufficient amounts being made by your adrenal glands, in order to mimic the beneficial effects produced by your naturally made hormones.
This video has been updated to include an alternate name for the internal thoracic arteries. View the updated video here: https://youtu.be/kxc22Fjd1NQ
For Employees of Hospitals, Schools, Universities and Libraries: Download 8 FREE medical animations from Nucleus by signing up for a free trial: http://nmal.nucleusmedicalmedi....a.com/free-trial-mem
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This video, created by Nucleus Medical Media, shows a coronary artery bypass graft (CABG) procedure used to combat coronary artery disease. Beginning with a midline sternal incision, the heart is connected to a perfusion machine which will take over the duties of the heart while the surgery takes place. Two different grafts are used to bypass the blocked coronary arteries: the internal thoracic artery from inside the chest wall, and the saphenous vein from the leg. After the procedure, the heart is shocked to restart its beating. A drainage tube is left at the incision site to drain away excess fluid. The animation continues to show two other types of approaches to a coronary artery bypass graft, off-pump bypass surgery and minimally invasive bypass surgery.
This is similar to the procedure performed on former president Bill Clinton and former California governor Arnold Schwarzenegger.
#HeartBypassSurgery #CABG #heart
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Dr. Jeffrey Ojemann, director of epilepsy surgery at Seattle Children's Hospital, explains a cutting-edge treatment for epilepsy: minimally invasive MRI-guided laser ablation surgery. Laser ablation surgery is much safer and more precise than other treatments, with fewer side effects.
A special thanks to patient Keoni Giauque.
For more information, visit: http://www.seattlechildrens.or....g/clinics-programs/n
"One Last Look" music rights via RoyaltyFreeMusic.com
Polycystic liver disease (PLD or PCLD) is a rare condition that causes cysts -- fluid-filled sacs -- to grow throughout the liver. A normal liver has a smooth, uniform appearance. A polycystic liver can look like a cluster of very large grapes.
Patient Greg Grindley communicates with host Bryant Gumbel and his wife for the first time while undergoing deep brain stimulation surgery at University Hospital's Case Medical Center in Cleveland, Ohio.
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Greg's First In-Surgery Conversation | Brain Surgery Live
https://youtu.be/zvqV_2zncNU
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The cervix is fully dilated to about 10 cm,with the baby's head moving beyond the cervical opening , into the birth canal. The mother is encouraged to push during contractions,and rest in between them. In a normal delivery, the head rotates to face the mother's back
Watch Spinal Stenosis Videos Spinal stenosis occurs when the spinal cord in the neck (cervical spine) or the spinal nerve roots in the lower back (lumbar spine) are compressed. Symptoms of lumbar stenosis often include leg pain (sciatica) and leg tingling, weakness, or numbness. Arm pain is a typical symptom of cervical spinal stenosis. For cervical spinal stenosis with myelopathy, difficulty with coordination often occurs. Stenosis treatment may include non-surgical options (exercise, anti-inflammatory medication, epidural injections, and activity modification) or back surgery.