Congenital Hearing Loss

amc genetic disorder :: Article Creator New Genetic Brain Disorder In Humans Discovered - ScienceDaily A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell. The findings were generated by two independent but collaborative scientific teams, one based primarily at Baylor College of Medicine and the Austrian Academy of Sciences, the other at the University of California, San Diego School of Medicine, the Academic Medical Center (AMC) in the Netherlands and the Yale University School of Medicine. By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. In...

macrocytosis liver disease :: Article Creator Macrocytic Anemia: Causes, Symptoms, Treatment, And Types - Medical News Today Macrocytic anemia causes a person to have large red blood cells that cannot carry enough oxygen throughout the body. The symptoms mimic other kinds of anemia but the treatment depends on the underlying cause. Hemoglobin is an iron-containing protein in red blood cells that transports oxygen around the body. Deficiencies in vitamin B12 or folate often cause macrocytic anemia. People may also use the term vitamin deficiency anemia. This article looks at the causes and symptoms of macrocytic anemia, the treatment options, and how to prevent complications. Macrocytic anemia is a condition in which a person has abnormally large red blood cells and not enough healthy red blood cells. Macrocytic anemia refers to a condition called macrocytosis in the context of anemia. Macrocytosis means that...

haemophilia is a genetic disease :: Article Creator First NHS Patient Treated With CSL Behring's Haemophilia B Gene Therapy Hemgenix The first patient in the UK has been treated by the NHS with CSL Behring's haemophilia B gene therapy Hemgenix (etranacogene dezaparvovec). The patient from the North East of England was treated at Guys & St Thomas's NHS Foundation Trust in London and may no longer require regular infusions to help their blood clot. Affecting more than 2,000 people in the UK, haemophilia B is a genetic bleeding disorder resulting from missing or insufficient levels of clotting factor IX (FIX). Patients with severe cases of the disease currently require lifelong treatment with intravenous FIX, which can still leave them vulnerable to breakthrough bleeds and pain in the days before infusions. CSL's Hemgenix addresses the underlying genetic cause of haemophilia B by enabling the body to continuously produce FIX, ...

noonan syndrome personality :: Article Creator What Is Noonan Syndrome? Does My Child Have The Signs? - WebMD Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. It can cause a wide range of other physical and developmental symptoms that usually start at birth. There's no cure for it, but doctors can treat some of the symptoms as they happen. Noonan syndrome is caused by a genetic defect. Scientists have identified four genes involved in the syndrome: PTPN11, SOS1, RAF1, and KRAS. There are two ways you can get this syndrome: The gene mutation is passed down to you by one parent The altered gene happens for the first time while you are still in the womb There are many symptoms, and they may be mild, moderate, or severe. Head, Face, and Mouth Widely spaced eyes Deep groove between the nose an...

mild treacher collins syndrome :: Article Creator Treacher Collins Syndrome: Causes, Symptoms, And Treatment - Medical News Today Treacher Collins syndrome is a rare medical condition caused by a genetic mutation. It affects the development of bones and other tissues of the face and results in abnormalities in the head, face, and ears. Other names for this syndrome are mandibulofacial dysostosis, Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia. In this article, we examine the symptoms, causes, and treatments available for TCS. We also take a look at living with TCS and what the outlook is for people with the condition. The signs and symptoms of TCS vary and range from almost unnoticeable to severe. While some individuals may experience very mild symptoms, others have extremely severe symptoms that may have serious consequences, such as life-threaten...

hereditary factor xi deficiency :: Article Creator Factor XI Deficiency: Causes, Diagnosis, And Treatment - Healthline If you have factor XI deficiency, your blood doesn't clot properly because it lacks specific proteins called "clotting factors." It causes a mild form of hemophilia and may increase bleeding. Factor XI deficiency is a rare, inherited bleeding disorder. XI means "eleven" in Roman numerals. Factor XI deficiency is sometimes called hemophilia C and is a relatively mild form of hemophilia. If you have factor XI deficiency, you might experience heavy menstrual periods or bleeding after surgeries, such as dental extractions. Though there is no cure, treatments are available to help minimize symptoms and prevent future health problems. Factor XI deficiency is a rare bleeding disorder. People with Factor XI deficiency don't have enough of a protein in the blood called factor XI. ...