Congenital Hearing Loss

hemophilia a teaching :: Article Creator A Father's Words Of Wisdom For Parents Of A Child With Hemophilia Becoming a parent changes everything in life. This was certainly true for my husband, Jared, who'd always dreamed of being a father, despite having severe hemophilia B and frequent seizures. When our daughter, Cittie, was born, that dream came to life, giving him more purpose and even improving his health. Reflecting on his journey, Jared often wonders what it would be like to raise a child with hemophilia. He certainly understands the challenges it entails. In this column, Jared shares below some of his thoughts for parents of children with hemophilia. His advice is rooted in practical wisdom, aimed at helping them prepare for the realities ahead while keeping their expectations grounded. Accept the journey, but plan ahead with flexibility Parenthood is full of surprises. When you plan to have a child, you must accept the po

terminal deletion syndrome :: Article Creator Marfan Syndrome Marfan syndrome is an inherited, or genetic, disease that affects your body's connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of your body. In people who have Marfan syndrome, connective tissue lacks strength because of its unusual chemical makeup. The syndrome affects your: Marfan syndrome is a genetic condition that affects your connective tissue to cause many symptoms throughout your body. (Photo Credit: iStock/Getty Images) Marfan syndrome is a "variable expression" genetic disorder. This means the symptoms can be different from one person to another. They can also vary in how severe they are, and they can range from mild to life-threatening. Symptoms tend to get worse as you get older. Marfan syndrome appearance People with Marfan syndrome may have: Marfan sy

rare blood diseases :: Article Creator Woman With Rare Disease Claims She's Now Blind And Bruised After Doctors Made Her Get 3 Vaccines A 23-year-old Florida woman has been temporarily blinded and bruised after allegedly being required to receive multiple vaccines before a blood transfusion for a rare autoimmune disorder. Alexis Lorenze was diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH) in January. The extremely rare condition affects approximately one in a million people, causing the immune system to attack and destroy red blood cells. Alexis Lorenze was diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH) in January. Todd Lorenze/Facebook Earlier this month, Lorenze reportedly traveled to California for a transfusion to replenish her damaged blood cells. Upon her arrival at UCI Medical, she claims doctors informed her that she could not receive the transfusion unless she first received vaccines for tetanus, pneumonia

genetic epilepsy with febrile seizures plus :: Article Creator Heat-Epilepsy Link: How High Temperatures Affect Brain Activity Understanding the impact of extreme weather on neurological conditions is becoming increasingly crucial as climate change intensifies. The study, published in Brain Communications, investigates the effects of heatwaves on individuals with medication-resistant epilepsy. Using intracranial electroencephalography (icEEG), researchers monitored the brain activity of nine patients undergoing evaluation for surgical treatment of epilepsy at the National Hospital for Neurology and Neurosurgery. 'Increased #seizure episodes and abnormal #brain activity were observed in #epileptic patients during #heatwaves. #medindia' Their brain activity was monitored using intracranial electroencephalography (icEEG) tests, which measure electrical impulses by inserting tiny electrodes into the brain's substance.Heatwave and Ep

microtia deafness :: Article Creator Celtic Daft Schoolboy To Be Mascot For Champions League Clash A football mad schoolboy is to walk out with his Celtic heroes tonight ahead of their clash with Slovan Bratislava. Lewis Williamson is to be the mascot for the Champions League game at Parkhead which kicks off at 8pm. The seven-year-old from Barrhead made headlines this summer when he became the first child to receive a revolutionary hearing device at the Royal Hospital for Children in Glasgow (RHCG). His mum Claire said the primary three is "absolutely thrilled" to have the honour of gracing the hallowed turf this evening. Dad Colin, mum Claire, sister Aimee and Lewis (Image: Supplied) The Cross Arthurlie pupil, who was born with a deformed right ear with no ear canal, has conductive deafness on one side. The rare condition is known as Microtia and he was fitted with the new Cochlear Osia system on July 15. The device is a magne

most common coagulation disorder :: Article Creator Sickle Cell Trait Linked To Higher Blood Clot Risk A RECENT study has revealed an increased risk of venous thromboembolism (VTE) in individuals with sickle cell trait (SCT) compared to those without the trait. While SCT carriers face an elevated risk, the study found that the risk remains lower than for individuals with heterozygous factor V Leiden (FVL), the most common inherited blood-clotting disorder.  SCT is present in over 100 million people globally, including 7% of Black individuals in the USA. Unlike sickle cell disease (SCD), which involves two abnormal haemoglobin genes, SCT involves one sickle haemoglobin gene, and most carriers lead asymptomatic lives, however, SCT is a known risk factor for VTE. The study aimed to compare the VTE risk in SCT to FVL independent of race or genetic ancestry.  Analysing data from more than four million 23andMe participants, researchers discovered that

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hemochromatosis chromosome :: Article Creator GLP1RA Drug Lowers High Iron Levels In Mouse Model Of Hereditary Condition Register for free to listen to this article Thank you. Listen to this article using the player above. ✖ Want to listen to this article for FREE? Complete the form below to unlock access to ALL audio articles. GLP1RA agonists have been increasing in popularity for treating obesity and type 2 diabetes.  With this novel treatment proving to be very effective, researchers are curious to know more about what other potential treatments it could also hold. Researchers at the University of Michigan investigated another potential way GLP1RA drugs can be useful in treating type two diabetes associated with a genetic condition that causes high levels of iron, called hereditary hemochromatosis. High iron levels with hereditary hemochromatosis can cause predisposition to liver disease and type two diabet