Congenital Hearing Loss

huntington disease x linked recessive :: Article Creator Organoids Reveal A New Player In Huntington's Disease Scientists have used an organoid model to gain new insights into Huntington's disease, a fatal genetic disorder that causes neurodenegeration that impairs movement and behavior. The disease is caused by mutations in the Huntingtin (HTT) gene. There are no good treatments for this disorder. Investigators have now found that a gene called CHCHD2 is also related to Huntington's; mutations in the HTT gene can reduce CHCD2 expression, which may present a new target option for treatments. The findings have been reported in Nature Communications. Researchers turn to models when they want to learn more about the mechanisms underlying a physiological process or disease. But animals can only tell us so much about human conditions. One relatively recent creation that aims to bridge the gaps in research knowledge that arise from using a...

types of aplastic anemia :: Article Creator What Are The Different Types Of Anemia? Although all types of anemia are characterized by dysfunctional or low levels of red blood cells, the causes, severity, and treatment of the different kinds of anemia can vary. Anemia is a health condition that occurs when you don't have enough red blood cells or when the red blood cells in your body are unable to function properly. Anemia can cause symptoms like fatigue, dizziness, and shortness of breath. There are many types of anemia, including: iron-deficiency anemia sideroblastic anemia thalassemia lead toxicity anemia anemia of chronic disease (ACD) blood loss anemia hemolytic anemia aplastic anemia anemia from bone marrow infiltrative disorders sickle-cell anemia megaloblastic anemia non-megaloblastic anemia Some can be treated easily and resolved quickly. Other types require more intensive, possibly lifelong treatment....

signs of platelet disorders :: Article Creator Don't Miss These 3 Medical Blood Tests After 50 Regular blood tests like CBC, lipid panel, and TSH are essential for early detection of health issues, ensuring you can enjoy life to the fullest as you age. As we age, our bodies become more susceptible to various health conditions, including heart disease, diabetes, liver issues, and thyroid disorders. Blood tests are a vital tool in monitoring these risks, enabling early detection and management before conditions become severe. Regular blood tests can reveal subtle changes in your health, such as rising cholesterol levels or blood sugar irregularities, allowing for timely interventions. Early detection through these tests can significantly improve outcomes, reducing the risk of complications and enhancing overall quality of life. Regular monitoring is essential to maintaining good health and preventing the onset of serious illnesses as we age. C...

trisomy 13 & 18 :: Article Creator Trisomy 13 - BingNews trisomy 13 - BingNewstrisomy 13Recognizing the Clinical Features of Trisomy 13 SyndromeCYTOGENETIC AND MOLECULAR STUDIES OF NON-DISJUNCTION IN TRISOMY 13New Prenatal Genetic Testing Could Predict Your BabyWhat is trisomy 18? Why the fatal genetic disorder is in the news — and what it's like to get the diagnosis.'She keeps you moving forward': North Texas golfer who lost young daughter finds path to PGA TourDandy-Walker SyndromeDNA replication in early embryos differs from previous assumptions, study showsRecognizing the Clinical Features of Trisomy 13 Syndrome'She keeps you moving forward': North Texas golfer who lost young daughter finds path to PGA Tour http://www.Bing.Com/news/search?Q=trisomy+13+&+18&cc=us&format=RSSSearch resultshttp://www.Bing.Com/rsslogo.Gifhttp://www.Bing.Com/news/search?Q=trisomy+13+&+18&cc=us&format=RSSCopyright \xc2\xa9...

gene positive huntington's disease :: Article Creator Gene Positive Huntington - Search News WGRZ on MSN4h Team Hope Walk brings awareness to Huntington's Disease "My wife, Corina, she is HD positive. Her father has Huntington's. He has manifest, so he is showing symptoms, and my wife is gene positive so she is not showing symptoms yet, but she will soon, and ...

invitae comprehensive neuromuscular disorders panel :: Article Creator Neuromuscular Medicine Fellowship Program The University of Alabama at Birmingham (UAB) provides an ACGME accredited, one year, neuromuscular medicine fellowship program. Our fellowship offers comprehensive training in clinical neuromuscular evaluation, electrodiagnostic tests, and muscle and nerve histopathology interpretation. Our faculty expertise and institutional resources cover all aspects of adult and pediatric neuromuscular disease. Opportunities exist to participate in intramural or extramurally funded basic, translational, and clinical research projects. This program can be tailored toward individuals interested in academic or private practice careers. Clinical Care Fellows will provide clinical care in a predominately outpatient setting. They will be responsible for evaluating and diagnosing adult and pediatric patients with neuromuscular disorders. They will see pa...

one extra chromosome disorder :: Article Creator X Y Chromosomes In the imprinted brain theory, everyone's brain is configured somewhere on a spectrum between hypomentalism and hypermentalism. In hypomentalism, the mechanistic, paternal genes are over-expressed, creating a baby with a larger head who demands more from the mother; this child is more likely to have autism. In hypermentalism, the mentalistic, maternal genes are over-expressed; the baby is likely to have a smaller head, demand less from the mother, and develop psychosis. The normal brain falls somewhere between the two extremes, ensuring that the child exhibits neither autism nor psychosis. Kammy's Kause: Making An Impact For Rare Chromosome Disorders Kammy's Kause, an annual event now in its 20th year, continues to make a significant impact in the community, bringing together people for a cause that supports individuals with rare chromosome disorders. The event was foun...