Congenital Hearing Loss

48 xxyy chromosome disorder :: Article Creator

downs chromosome abnormality :: Article Creator Japanese Scientists Claim They Could End Down Syndrome Down syndrome is a genetic condition caused by an extra copy of chromosome 21. Credit: Branden Rae / Public domain Researchers in Japan have taken a major step toward eliminating Down syndrome by using advanced gene-editing technology to erase the genetic defect at its source. The study, published in PNAS Nexus, details how scientists at Mie University used CRISPR-Cas9 to remove the extra chromosome 21 from lab-grown cells. This surplus chromosome causes Down syndrome, or trisomy 21, a genetic condition that affects around one in every 700 births in the United States. It leads to abnormal gene expression, developmental delays, intellectual disabilities, and multiple health complications. Precise chromosome removal reshapes gene activity Led by Ryotaro Hashizume, the research team designed CRISPR guides to target only the extra chromosome...

somatic mosaicism turner syndrome :: Article Creator Mosaic Turner Syndrome: What It Is And How It's Treated During the diagnostic process, you may hear the term "intersex." Medically, the term simply means a person has biological traits of more than one sex. It may mean a person has external characteristics of one sex but internal reproductive anatomy of another sex. For example, a person may be born with a penis and ovaries. In the case of Turner syndrome, the term "intersex" relates to genetic material. While the external reproductive anatomy may appear to be female, some or all of the pair of sex chromosomes, which typically determine the physical characteristics of reproductive anatomy, may be missing the second X chromosome. For this reason, Turner syndrome is considered an "intersex condition." However, people with mosaic Turner syndrome are likely to be assigned female at birth and may never display an...

klinefelter meaning :: Article Creator Veteran Study Reveals Medical Challenges In Men With Klinefelter And ... Researchers at the University of Colorado Anschutz Medical Campus and collaborators across the country have conducted the largest and most diverse study of men with extra X or Y chromosomes in the US using a large dataset of military veterans. The results could lead to better diagnoses of these underrecognized conditions and earlier treatment of associated diseases. The study was published today in JAMA Network Open. One in 400 males have an additional X or Y chromosome, however 86 percent of these individuals are not diagnosed. This study supports that men with X and Y variations successfully serve in the US military but experience many medical and psychiatric comorbidities that could potentially be prevented with appropriate diagnosis and care." Shanlee Davis, MD, PhD, study's first author, associate professor of ped...

sickle cell disease autosomal recessive :: Article Creator Trump Administration's NIH Funding Cuts Threaten Research On Sickle ... Charity Oyedeji: The language of the letter, the termination notice was shocking to me because it used words like the research was low return on investment and harmful to Americans. And I was like, who wrote this? Like, who wrote this? Because this is racist. Like, this is a racist letter to say that, like, as if my patients are not Americans, or as if studying people with sickle cell disease or even doing equity research is low return. But improving the health of minority populations and people with sickle cell disease is the opposite. It's high return. It improves the health of Americans. It can prolong life. And I'm doing the opposite of what this termination notice was even saying. New Jersey Teen Pain-free Thanks To New Sickle Cell Disease Treatment For the first time in his life, a young New Jerse...

hereditary platelet disorders :: Article Creator Gray Platelet Syndrome: Symptoms, Causes, Treatment, More Gray platelet syndrome is an inherited disease that can cause mild to moderate bleeding. People with this condition tend to bruise easily, experience nosebleeds, and may have increased surgical bleeding. Gray platelet syndrome gets its name from how the platelets in people with this condition appear under a microscope. Platelets are specialized blood cells that allow your blood to clot and stop bleeding. Many conditions can cause blood clotting problems that range from mild to life threatening. Gray platelet syndrome tends to cause mild to moderate bleeding. It usually doesn't affect life span but can lead to serious complications for some people, such as spleen rupture. Read on to learn more about this rare condition, including its causes, symptoms, and treatment options. Gray platelet syndrome was first d...

haemophilia is a genetic disorder :: Article Creator Oldest Genetic Disorder Few Kenyans Know About - The Standard Haemophilia Comprehensive Care Clinic will be opened at the Coast General Hospital to mark the triumphs of persons with Haemophilia. (Photo: Maarufu Mohamed, Standard) Today, Kenya joins the globe in celebrating the triumphs of persons with a bleeding disorder known as Haemophilia. From writings of rabbinical readings, haemophilia existed as early as the 2nd century, AD, in the laws and traditions that gave reprieve for baby boys from being circumcised especially if their two older brothers died during the rite of passage. This year the event in Kenya will be marked in Mombasa to mark the opening of the Haemophilia Comprehensive Care Clinic at the Coast General Hospital, bringing the number of specialist haemophilia clinic to three after Kenyatta National Hospital and Moi Teaching and Referral Hospital in Eldoret. This year...

i have von willebrand disease :: Article Creator A Vet's Guide To Von Willebrand Disease In Dogs - Yahoo 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 ...