Congenital Hearing Loss

haemophilia is genetic disorder :: Article Creator Haemophilia: What Men Need To Know About This Genetic Bleeding Disorder Genes are the building blocks of life that determine our traits and functions. They are inherited from our parents and located on chromosomes, which are thread-like structures found in the nucleus of cells that carry DNA and proteins. While some genetic variations lead to unique traits, others can cause inherited disorders, like haemophilia. If it is the first time you are hearing of it, it is all the more reason why you should continue reading. The OnlyMyHealth team interacted with Dr Kunal Sehgal, Managing Director and Chief Pathologist, Neuberg Sehgal Path Lab, who explains the genetic disorder and shares who could be more at risk for it. Also Read: Study Finds New Gene Treatment May Lower Bleeding Risk In Hemophilia Patients What Is Haemophilia? Dr Sehgal describes haemophilia as a rare genetic disorder where th...

dupuytren's contracture genetic :: Article Creator Dupuytren - Search News 10d John Elway Teams Up with Endo to Share Update on Dupuytren's Contracture and Treatment with XIAFLEX® (collagenase clostridium histolyticum) Endo, Inc. ("Endo") (OTCQX: NDOI) announced today that John Elway will share an update about his Dupuytren's contracture patient journey, including his treatment with XIAFLEX® (collagenase clostridium ...

numerical chromosomal mutation :: Article Creator DNA Is Constantly Changing Through The Process Of Mutation Figure 4: If the number of bases removed or inserted from a segment of DNA is not a multiple of three (a), a different sequence with a different set of reading frames is transcribed to mRNA (b). Insertion or deletion of one or more nucleotides during replication can also lead to another type of mutation known as a frameshift mutation. The outcome of a frameshift mutation is complete alteration of the amino acid sequence of a protein. This alteration occurs during translation because ribosomes read the mRNA strand in terms of codons, or groups of three nucleotides. These groups are called the reading frame. Thus, if the number of bases removed from or inserted into a segment of DNA is not a multiple of three (Figure 4a), the reading frame transcribed to the mRNA will be completely changed (Figure 4b). Consequently, once it encounte...

down syndrome mosaicism :: Article Creator New Study Links Genetic Mosaicism To Lower Alzheimer's Risk In Adults With Down Syndrome Researchers identified mosaicism as a possible factor influencing Alzheimer's risk in adults with Down syndrome, offering new insights into amyloid biomarkers and their broader implications for the general population. Study: The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome. Image Credit: vitstudio/Shutterstock.Com In a recent study published in the journal eBioMedicine, researchers leveraged biomarker and neuropsychological data from two large-scale DS studies to elucidate the association between mosaicism and Alzheimer's disease onset. Study findings revealed that mosaicism, a rare genetic condition recorded in between 1.3-5% of DS patients, alters normal DS endophenotypes, substantially reducing AD risk. Mosaicism was further asso...

hemophilia c factor :: Article Creator What Is Hemophilia? Symptoms, Causes, Diagnosis, And Treatment It's common for people who have or have had family members with hemophilia to get their baby boys tested for the condition shortly after they're born. About one-third of babies who have hemophilia have no relatives with the disorder, so infants may be evaluated if they show symptoms. [9] Ideally, testing is planned before the baby's birth so that a blood sample can be drawn from the umbilical cord. Umbilical cord blood testing is better at discovering low levels of factor 8 than at finding low levels of factor 9, because factor 9 levels are not at a normal level until a baby is at least 6 months old. Two types of tests are used for diagnosis: screening tests and clotting factor tests, which are also called factor assays. Screening Tests Screening tests are blood tests that reveal whether the blood is clotting properly. There ar...

thin blood disease :: Article Creator Certain Painkillers Might Raise Bleeding Risks For People On Blood Thinners People on blood thinners have a doubled risk of dangerous internal bleeding if they also take a non-steroidal anti-inflammatory drug (NSAID) like ibuprofen or naproxen, a new study warns. Photo by Adobe Stock/HealthDay News People on blood thinners have a doubled risk of dangerous internal bleeding if they also take a non-steroidal anti-inflammatory drug (NSAID) like ibuprofen or naproxen, a new study warns. People typically are prescribed blood thinners to treat or prevent strokes, heart attacks, or blood clots in the legs or lungs, researchers said. NSAIDs also are known to thin the blood, and the new study shows that they can increase risk of uncontrolled bleeding in the gut, brain, lungs and bladder if taken alongside a blood thinner. "We found that for patients taking blood thinners for blood clots in the ...

neurofibromatosis genetics :: Article Creator Inheritance And Genetics Of Neurofibromatosis Type 1 (NF1) Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by an alteration – called a mutation – in the NF1 gene, which is located on chromosome 17. The NF1 gene contains a code of instructions for making a protein called neurofibromin, which is produced in many cells, including nerve cells and specialized cells surrounding nerves (Schwann cells). The neurofibromin protein acts as a tumor suppressor, preventing cells from growing and dividing too rapidly. The NF1 gene mutation leads to the production of a nonfunctional or absent neurofibromin protein that is unable to regulate cell growth and division, resulting in the growth of neurofibromas (skin tumors) along nerves throughout the body. Inherited Mutations All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that...

treacher collins syndrome hearing loss :: Article Creator 'My Prosthetic Ears Make Me Feel More Normal' Janet Craven was born with a rare genetic disorder called Treacher Collins syndrome A woman who was born with no ears and who underwent ground-breaking surgery 20 years ago to have prosthetic ones fitted has described how it changed her life. Up until the age of 47, Janet Craven could barely hear and would cover her face with her long hair because she was so self-conscious about her appearance. Janet, from Wakefield, was born with rare genetic disorder Treacher Collins syndrome, which affects the way the face develops, especially the cheekbones, jaws, ears and eyelids. When she was young, she underwent several pioneering operations to rebuild her facial structure. But the most life-changing surgery was carried out much later when prosthetic ears made out of silicone were magnetically attached to her head via...