Congenital Hearing Loss

ehlers danlos syndrome hereditary :: Article Creator What Is Ehlers-Danlos Syndrome, The Genetic Disorder Singer Sia Is ... Sia, the songwriter and performer known for such hits as "Cheap Thrills" and "Titanium," is almost as famous for her reclusiveness as for her music. Following the release of her breakthrough album 1000 Forms of Fear in 2013, the Australian singer performed without showing her face, sometimes facing the back of the stage or wearing oversized wigs with bangs that covered her nose. But on Friday the 43-year-old singer, whose real name is Sia Furler, shared an intimate detail about herself, revealing to fans on Twitter that she suffers from chronic pain related to Ehlers-Danlos syndrome, which she called "a neurological disease." She offered a message of support to everyone else experiencing pain. The Mayo Clinic describes Ehlers-Danlos syndrome as "a group of inherited disorders that affect...

rare hereditary diseases :: Article Creator Why Rare Genetic Diseases Are Not So Rare In India Thousands of years of endogamy may have shaped genetic disease risk in India. Scientists are now trying to identify those risks in communities In a crowded lab at the Centre for Cellular and Molecular Biology (CCMB), Kumarasamy Thangaraj points to a machine rotating test tubes that contain tissue from an animal model. The process is one step in a months-long study of a genetic mutation recently discovered in a small South Indian community. The variant, when carried by both parents, can lead to a fatal disease in the child.The mutation likely emerged in an ancestor's genes thousands of years ago, says Thangaraj. And, because they kept marrying within their group, the variant persisted. Scientists Use DNA From Three People To Protect Babies From Rare Disease Mitochondria are commonly known as the "powerhouse of the cell" and pro...

qualitative platelet disorder :: Article Creator Assessing And Treating Disorders Of Primary Hemostasis  Each month, The Clinical Advisor makes one new clinical feature available ahead of print. Don't forget to take the poll. The results will be published in the next month's issue. Disorders of primary hemostasis have a vast differential diagnosis and may present in a variety of medical, obstetric, surgical, and critical care settings. When evaluating patients with thrombocytopenia or evidence of qualitative platelet dysfunction, clinicians must determine the significance of the platelet count as well as the risk for bleeding, thrombosis, and other potential complications. In one study, thrombocytopenia was observed in approximately 1% of adult inpatients in acute care hospitals.1 Surgical bleeding is of concern when platelet counts are <50,000/µL, or <100,000/µL in patients ...

cancer caused by chromosomal abnormalities :: Article Creator Researchers Sequence Complex Parts Of Human Genome, Expanding The Future Of Precision Medicine Complex regions of the human genome remained uncharted, even after researchers sequenced the genome in its entirety. That is, until today. Researchers decoded DNA segments involved in the development of diseases like diabetes and spinal muscular atrophy that had previously been considered too complicated to sequence. Their work, published in Nature on Wednesday, could expand the future of precision medicine. "This is a landmark paper," said Barbara Mellone, professor of molecular and cell biology at the University of Connecticut, who was not involved in the research. "It opens the door to potentially solving cases that have been inaccessible to diagnosis for a long time." The first truly complete human genome was sequenced in 2022. A year later, scientists unveiled th...

genetic disorder that makes you look older :: Article Creator Baby Born With Rare Genetic Disorder Undergoes Eight Surgeries In 18 ... At 18 months old, baby Luca has endured more than most people will in their lifetime. Australian parents Ashleigh and Cody welcomed their little boy at just 33 weeks – six weeks earlier than expected – and nothing could have prepared them for what would ensue in the following 11 months. Luca, who was born on Nov. 9, the day after his mum's baby shower, entered the world with CHARGE syndrome, a genetic condition that affects the heart, nerves, genitalia, eyes and ears. Red flags first appeared at Ashleigh's 20 week scan when she was told there could be "a lot wrong" with Luca, but results from subsequent testing weren't delivered until the day he was born. "It was a very horrible experience," she told news.Com.Au, adding that because he arrived so early, "we weren't s...

turner syndrome trisomy 21 :: Article Creator Cause Of Leukemia In Trisomy 21 - ScienceDaily People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer. Scientists led by the Department of Paediatrics at University Hospital Frankfurt have now identified the cause: although the additional chromosome 21 leads to increased gene dosage of many genes, it is above all the perturbation of the RUNX1 gene -- a gene that regulates many other genes -- that seems to be responsible for AML pathogenesis. Targeting the perturbed regulator could pave the way for new therapies. Leukaemia (blood cancer) is a group of malignant and aggressive diseases of the blood-forming cells in the bone marrow. Very intensive chemotherapy and in some cases a bone marrow transplant are the only cure. Like all cancers, leukaemia is caused by changes in the DNA, the heredity material ...