Congenital Hearing Loss

treacher collins syndrome jono :: Article Creator People With Visible Differences Put In The Frame Jono has been photographed for exhibition Rarely Reframed, which wants to raise awareness about the prejudice those with a visible difference experience In a bid to avoid awkward questions and stares from strangers, Jono Lancaster makes a point of smiling and saying hello to everyone he meets. "I'm creating a positive interaction before they even see me, or say anything, or think anything... I'm taking ownership of it," he said. Jono has Treacher Collins syndrome, a condition caused by a genetic mutation which affects the development of the facial skeleton, cheekbones, jaws, palate and mouth. He is one of several people with a visible difference who have taken part in project Rarely Reframed by Welsh photographer Ceridwen Hughes. The portraits, inspired by the paintings of the Dutch Masters, aim to tell the stories of

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trisomy diseases :: Article Creator The Lundquist Institute And Mayo Clinic Awarded $2.46M NIH Grant To Investigate Cellular Senescence In Trisomy 21 Lung Disease Los Angeles, California, Oct. 21, 2024 (GLOBE NEWSWIRE) -- The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, in collaboration with Mayo Clinic, is proud to announce that Dr. Denise Al Alam and her co-Principal Investigator colleague, Dr. Christina Pabelick from the Mayo Clinic, Rochester, MN have been awarded a prestigious R01 Grant from the National Institutes of Health (NIH) - National Heart, Lung, and Blood Institute (NHLBI). The grant, totaling $2,457,071, has been allocated for their groundbreaking project entitled "Cellular Senescence in Trisomy 21 Lung Disease," which commenced on September 1, 2024. This award represents a significant step forward in the pursuit of advancing knowledge in Women's and Children's Health, underscoring

blood too thick disease :: Article Creator Polycythemia Vera Polycythemia vera (PV) is a blood cancer that begins in the marrow of your bones, the soft center where new blood cells grow. It causes your marrow to make too many red blood cells so your blood is too thick. You may be more likely to have clots, a stroke, or a heart attack. This disease gets worse slowly, usually over many years. It can be life-threatening if you don't get treatment, but the right care can help you live a long life. Most people who have PV don't get diagnosed until they're 60 or older, usually after a routine blood test. But it can happen at any age. Men get it more often than women. It's common to worry when you find out that you have cancer. Remember that everyone is different and that all cancers aren't the same. With the support of your doctor, family, friends, and other people who have polycythemia vera, you'll be in the best position

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cytomegalovirus hearing loss :: Article Creator Congenital CMV Linked To Hearing Loss In most cases, the virus known as Cytomegalovirus has no symptoms but pregnant women who contract the virus can pass it along to their babies. A new Georgia law is in effect that makes it mandatory for early testing for hearing loss, and pediatric Dr. Paula Harmon visited Good Day to discuss what parents need to know with Alex Whittler. Listen Closely: CMV Shouldn't Be Overlooked Hearing loss. Developmental delay. Vision loss.  These are all effects experienced by children who contracted congenital cytomegalovirus (cCMV) at birth. In a healthcare system as well funded and forward-thinking as California's, no child should be at risk of suffering permanent disabilities as a result of a missed diagnosis. Their suffering could be greatly reduced with early treatment, which requires early detection — preferably at birth. But that approach has yet to be uni

mendelian genetic disorders :: Article Creator Mendelian Genetics: Patterns Of Inheritance And Single-Gene Disorders Autosomal recessive single-gene diseases occur only in individuals with two mutant alleles of the disease-associated gene. Remember, for any given gene, a person inherits one allele from his or her mother and one allele from his or her father. Therefore, individuals with an autosomal recessive single-gene disease inherit one mutant allele of the disease-associated gene from each of their parents. In pedigrees of families with multiple affected generations, autosomal recessive single-gene diseases often show a clear pattern in which the disease "skips" one or more generations. Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern. PKU is associated with mutations in the gene that encodes the enzyme phenylalanine hydroxylase (PAH); when a person has these mutati