Congenital Hearing Loss

hunter syndrome enzyme deficiency :: Article Creator Shire's Hunter Syndrome Cognitive Impairment Drug Fails Shire's attempts to develop a drug for cognitive impairment from the rare inherited disease Hunter Syndrome has failed to produce results. The company's Elaprase (idursulfase) is already approved for Hunter syndrome, and the experimental drug SHP609 was an attempt to produce a drug to treat cognitive impairment associated with the disease. Elaprase, an enzyme replacement therapy, cannot cross the blood-brain barrier, so the new formulation is injected through the spinal column. SHP609 was supposed to correct the deficiency in the iduronate-2-sulfatase enzyme in the CNS and prevent the cognitive decline seen in some Hunter Syndrome cases. Sadly, Shire said the phase 2/3 study did not meet either its primary or secondary endpoints. The primary endpoint evaluated the difference in cognition between the SHP609-treated and co...

vwd 2b :: Article Creator A Vet's Guide To Von Willebrand Disease In Dogs When you buy through links on our articles, Future and its syndication partners may earn a commission. Credit: Getty Images/ bluecinema Von Willebrand disease in dogs is the most common inherited blood disorder our canine friends suffer with, and it also happens in humans and many other species. It's a bleeding disorder – a failure of the blood to clot – with symptoms that can vary from mild to severe. Luckily, von Willebrand Disease is rare enough that I haven't had to deal with many dogs with the disorder in my eight years of being a vet, but I still keep a close lookout for it. In this article, I'll explain what von Willebrand Disease is and – if your dog is unlucky enough to have it – what the likely outcome will be. Just to reassure you though, that the most common form of von Willebrand disease in dogs is mild and has a near-normal life expectan...

cf genetics :: Article Creator Cystic Fibrosis Patients Breathing Easier Thanks To New Drugs Jim Feldhausen, of Fitchburg, who turns 55 on Sunday, plays volleyball and is thinking about retirement and grandchildren. Bethany Hawes, 36, of Montfort, west of Dodgeville, is going to her son's sporting events and no longer erupts in coughing fits after walking up the stairs. Feldhausen and Hawes have cystic fibrosis, a genetic disorder in which mucus builds up in the lungs and digestive system, causing infections that often used to be fatal before adulthood. But after medical advances gradually increased life expectancy in recent decades, a breakthrough drug approved five years ago has transformed many patients' lives, boosting the expected lifespan from 46 years in 2019 to 61 years today. People are also reading… "I didn't think I was going to make it" to retirement, said Feldhausen, w...

hemophilia a hemarthrosis :: Article Creator Behind The Online Pictures, There's The Trauma Of Hemophilia I signed up for a Facebook account in 2008. Social media was foreign to me then, but I tried it and was excited to find old friends from high school and college. Catching up on one another's lives was enjoyable, and seeing my friends' children resembling their parents was fascinating. Yet I had no idea how this platform would become a significant part of my journey to understanding the challenges of living with a bleeding disorder. I searched through my family pictures to find the best ones to post. I've always found it easy to put myself out to the world, and in the early days of Facebook, sharing what I called the "bright and shiny" images of family was the norm. These depicted moments of joy, laughter, and celebration and were a way to show the blessings of our family and friends. These choices of images made l...

mild factor viii deficiency :: Article Creator Types Of Hemophilia / Haemophilia <?Php require_once "structure/framework/head/head_top.Php"; ??>Types of Hemophilia / Haemophilia<?Php $categoryID = 102; $subsectionID = 17; $subpageID = 2; $articleCategoryURL = "blood/"; $usefulLinkQueryString = isset($articleCategoryURL)?"?C=".Substr($articleCategoryURL, 0, -1):""; require_once "structure/framework/head/meta_pages.Php"; require_once "structure/framework/main/info/static_info_default_top.Php"; // ################################ ??> knowledge center home » hemophilia » all about hemophilia » types of hemophilia Hemophilia A and Hemophilia B There are two main types of hemophilia - Hemophilia A (due to factor VIII deficiency) and Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into join...

genetic testing for wilson's disease :: Article Creator Genetic Testing For Wilson - Search News Ärzteblatt19d Monogenic kidney diseases in adults with chronic kidney disease NPJ Genom Med 2021; 6: 57 CrossRef CrossRef 19. Wilson PC, Love-Gregory L, Corliss M, McNulty S, Heusel JW, Gaut JP: Beyond panel-based testing: exome analysis increases sensitivity for diagnosis of ...

cornelia de lange :: Article Creator Video: Choking Child's Life Is Saved By The Quick Actions Of CPR-trained Neighbor A quick-thinking mother and her CPR-trained neighbor prevented tragedy. When Stephanie George's 7-year-old son, Sebastian, began choking on a piece of food, she panicked, unsure of how to help him. She started dialing 911 but feared emergency responders would not arrive in time. "I grabbed my phone to call 911, but as I was reaching for my phone and unlocking it and typing in the number and looking to assess Sebastian, he was already blue," George told ABC News. "And that's when I started to panic." According to ABC News, Sebastian has Cornelia de Lange syndrome, a genetic condition that can cause feeding difficulties, so he eats blended food through a feeding tube. On this day, however, a piece of chicken was not ground finely enough and became lodged in his throat. In desperation, George ran...