Congenital Hearing Loss

hemophilia b carrier :: Article Creator $2.9 Million Gene Therapy For Severe Hemophilia Is Approved By FDA This photo provided by BioMarin in June 2023 shows a vial and packaging for their drug Roctavian. U.S. Officials on Thursday, June 19, 2023 approved the drugmaker's gene therapy for the most common form of hemophilia, an infused treatment that can significantly reduce dangerous bleeding problems. Credit: AP WASHINGTON — U.S. Officials on Thursday approved drugmaker BioMarin's gene therapy for the most common form of hemophilia, a $2.9 million infused treatment that can significantly reduce dangerous bleeding problems. The Food and Drug Administration approved Roctavian for adult patients with severe cases of hemophilia A, the inherited blood-clotting disorder that can lead to bleeding after minor injuries or scrapes. It's the first gene therapy for those patients. The IV therapy is a long-awaited alternative to current treatment...

pompe disease gene :: Article Creator Pompe Disease Channels Content type Categories Categories Sort by Order New Treatment Helps Symptoms Of Pompe Disease LOS ANGELES Physical therapy is still a grind for Monique Griffin. Just two years ago, she was busy marketing casinos in Las Vegas. But in 2009 she hit a wall: She couldn't breathe or move. "Nobody seemed to know what was wrong with me. They knew something was wrong with me at that point. I wasn't crazy," said Griffin. She was diagnosed with Pompe disease, a form of muscular dystrophy. Her body stores too much sugar, which destroys her muscles. "How much worse is it going to get? I'm having these problems breathing, I'm in unbearable pain," said Griffin. "We need to combine strategies of different approaches to treating this muscle disease," said Dr. Barry Byrne, a pediatric cardiologist at the University of Florida. Byrne was...

aplastic anemia platelet count :: Article Creator Aplastic Anemia: A Rare Disorder With Severely Low Blood Cell Count The symptoms of aplastic anemia are mainly related to the low blood cell counts . Aplastic Anemia is believed to be more common in India. Here's all you need to know about this rare disorder. Aplastic anemia is a rare and serious medical condition characterized by a significant decrease in the number of blood cells in the body. The term "aplastic" refers to the failure of the bone marrow to produce enough blood cells, including red blood cells, white blood cells, and platelets. It is an uncommon condition, affecting about 6 per million of population. However, it is believed to be more common in India. We spoke to Dr. Sweta Lunkad, Consultant Haematologist and BMT specialist, Jupiter Hospital, Pune, to know more about this condition. Excerpts follow: Causes of Aplastic Anemia Aplastic anemia can be acquired ...

digeorge syndrome genetics :: Article Creator What Is Hypocalcemia? Hypocalcemia is when you have too little calcium in your blood. Calcium is essential for your body to function normally. Your hormones control your blood calcium levels. It can be challenging to know if you have hypocalcemia, as usually it is only discovered through medical tests. Nonetheless, it is essential to treat due to the health problems it can cause. Hypocalcemia can be caused by certain genetic factors, or due to other deficiencies or conditions. Usually, hypocalcemia happens when large amounts of calcium are put out when you urinate, or too little calcium enters your blood from your bones. This could be caused by certain genetic factors, vitamin deficiencies, or other conditions. Some of the reasons either these things can happen include: Hypoparathyroidism. The parathyroids are located near the thyroid gland in the back of the neck. The parathyroids make a hor...

define bleeding disorder :: Article Creator Bleeding Disorders News, Research And Latest Updates Keep abreast with the latest news related to Bleeding Disorders there are 119 news items on Bleeding Disorders that covers updates, breakthroughs and in-depth reports. We provide you with a free downloadable secure widget for your website to carry news related to Bleeding Disorders. Detangling The Clot : Understanding Bleeding Disorders In Children Epistaxis, or nasal bleeding, is a common occurrence in children and is usually caused by benign factors. Some normal causes of epistaxis in children include exposure to Dry air or dry climate, nose picking, nasal congestion or allergies, Vigorous nose blowing and accidental trauma. It's important to note that while these causes are usually harmless, frequent or severe nosebleeds, or nosebleeds accompanied by other concerning symptoms, should be evaluated by a healthcare professional to rule out underly...

cerebellar ataxia hereditary :: Article Creator What Is Ataxia? If you have impaired muscle coordination or control, you might have a type of ataxia. This condition is rare, but it can make it difficult to maintain balance, speak, or move. "Ataxia" is the medical term that's used to refer to issues with muscle coordination or control. People with ataxia often have trouble with things like movement, balance, and speech. There are several types of ataxia, and each type has a different cause. Read on to learn more about the types of ataxia, the causes, common symptoms, and possible treatment options. Ataxia describes an impairment of muscle control or coordination. This can affect different types of movements, including but not limited to: walking eating talking writing The area of your brain that coordinates movement is called the cerebellum. It...