What is Fabry disease? Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.

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This video explains that Fabry disease is a rare, inherited condition, caused by the lack of an enzyme, as a result of a genetic change on the X-chromosome. The video illustrates the inheritance patterns of Fabry disease and the wide range of physical signs and symptoms associated with the condition. Additionally, the video highlights that although there is no cure for Fabry disease, early diagnosis is essential to ensure timely treatment and management of the disease.

INTSP/EXA/FAB/15/0071(1)
Date of preparation: February 2017
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What does it look like when someone with and someone without EDS is tested on the EDS criteria?
*****OOPS I MESSED UP AND RENATA DOESN’T PASS THE FIRST CRITERIA LOL 😬. She would have needed 3 more points on the Beighton Score. AND I FORGOT TO INCLUDE THE KNEE HYPEREXTENSION 🤦‍♀️🤦‍♀️🤦‍♀️

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WHAT’S EHLERS-DANLOS SYNDROME?
EDS is a genetic connective tissue disorder that causes certain mutations to aspects or types of connective tissues and results in connective tissue that is abnormally weak, fragile, and stretchy. Connective tissue is found in all parts of the body, including your organs, ligaments, and joints. As a result, people with EDS can be affected in all of these areas, as well as more. The most common symptoms and co-morbidities include pain, dysautonomia, dislocations, GI tract dysmotility, severe joint instability, and many more. The disorder is somewhat rare, estimated to affect around 1 in every 5,000 people. However, it’s speculated by many to not be as rare as we once believed.

MORE INFO ABOUT EDS:

EDS Types

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https://mayocl.in/2BRQTuR

MORE INFO ABOUT MUSCLE TENSION DYSPHONIA:
https://bit.ly/2MLUYXI

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Glaucoma is a major cause of blindness around the world, but especially in developing countries. The World Health Organization says glaucoma is a greater public health challenge than cataracts, because the blindness caused by glaucoma is permanent. VOA’s Carol Pearson has more on what glaucoma is and who’s at risk.
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What is a Goiter? (Enlarged Thyroid) – https://healthery.com/health/goiter/

Presented by healthery.com

Inside of the neck above the collarbones is a gland known as the thyroid gland. It produces hormones that help the body function normally. When this gland gets enlarged, a goiter is the common result. They were common in the ancient world because their diet lacked iodine. Now, Goiters caused by iodine deficiency are rare.

What are the Symptoms of a Goiter? The front of the neck will swell from barely noticeable to large. The swelling may be painful, but not always. When goiters are large enough, they interfere with breathing and swallowing. Large goiters put pressure on the vocal chords and causes voice changes. Which makes it difficult sleeping on the back since it can block air supply. It’s most common for woman over 40 years old with a family history of Goiters.

What are the Causes of a Goiter? A person can develop it as a result of various underlying medical conditions. It can be linked to both hypothyroidism and hyperthyroidism. Iodine deficiency is the most common cause of Goiter. Causing the thyroid gland to produce more hormones to counter hypothyroidism. With the thyroid stimulating hormone (TSH), an endemic goiter is formed. Some Goiter cases can also be linked to pregnancy. During that time, the human chorionic gonadotrophin (HGC) can form a Goiter. The thyroid mistakes HGC for TSH which results in its enlargement. Thyroiditis, inflammation of the thyroid, can also cause goiter. Thyroiditis is usually linked to hypothyroidism. Thyroiditis symptoms include neck pain and a mild fever. Other causes may include Hashimoto’s Thyroiditis and multinodular Goiter. Including thyroid cancer and solitary thyroid nodules.

How is a Goiter Treated? Treatment for Goiters depends on the cause. Unless the cause is addressed, the Goiter may not go away. Only rarely does a goiter disappear just as it mysteriously appeared. Have a doctor check it since it can be a sign of a deadly medical condition. Goiters caused by lack of iodine shrink when iodine is replenished. Goiters caused by thyroid problems need thyroid supplements. Worse cases may need radioactive iodine, which can be taken orally. In worse case scenarios, the thyroid may have to be surgically removed. The patient will then need hormone pills to replace the thyroid hormones.

How is a Goiter Prevented? Goiters caused by iodine deficiency, should have their diet adjusted. Iodine is an essential mineral in the production of thyroid hormones. If you are not getting enough iodine, include foods rich in iodine which includes eggs, seafood, milk and lots of fruits. Use iodinated salt to ensure enough daily supply of iodine. Avoid overexposure to radiation if working in a radiation-prone workplace. In addition, avoid certain immunosuppressant and anti-retroviral medications. During pregnancy, take iodine supplements to ensure safety. Finally, avoid lifestyle choices like chronic alcoholism and hard drug abuse.

Be sure to speak to your doctor about your health concerns. This video is meant for educational purposes and is not medical advice.

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Plant Disease Management by Veronica Ancona
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WHAT IS EB?
The Dystrophic Epidermolysis Bullosa Research Association of America (debra of America), is the only national nonprofit dedicated to funding research and providing free services and programs for those with Epidermolysis Bullosa (EB) — “The Worst Disease You’ve Never Heard Of.”™ debra of America is dedicated to finding a cure for EB, which affects 1 out of every 20,000 live births in the United States. EB is a rare genetic connective tissue disorder. There are many genetic and symptomatic variations of EB, but all share the prominent symptom of extremely fragile skin that blisters and tears from minor friction or trauma. Internal organs and bodily systems can also be seriously affected by the disease. EB is always painful, is often pervasive and debilitating, and is in some cases lethal before the age of 30. There is no treatment or cure. Daily wound care, pain management, and protective bandaging are the only options available. Visit: www.debra.org

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Cataracts, glaucoma and age-related macular degeneration are the most likely conditions to affect your vision. Here’s how we treat, prevent and manage these thieves of sight and how you can reduce your risk of developing them. For more information, visit: http://bit.ly/2twBydw

Cataracts: 1:00
Glaucoma: 2:18
AMD: 3:30
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Levels of Disease Prevention
Primary
Secondary
Tertiary
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In this video I have explained hemoglobin electrophoresis normal electrophoretic bands along with different hemoglobinopathies like sickle cell trait, sickle cell anemia, hemoglobin C trait, hemoglobin C disease, hemoglobin SC disease, beta-thalassemia minor and beta-thalassemia major.

Thanks to Rachael Daniela for helping me in recording this video!

Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. It uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis. The test can detect abnormal levels of HbS, the form associated with sickle-cell disease, as well as other abnormal hemoglobin-related blood disorders, such as alpha thalassaemia and hemoglobin C.

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HbE disease is one type of thalassemia, defect in haemoglobin molecule. HbE disaese is minor type of thassemia.

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Mayo Clinic Geneticist, David Deyle, M.D., discusses Ehlers Danlos syndrome. Topics include an overview of the condition, signs and symptoms, most common types, diagnosis, and treatment options.

A physician referral is required to be evaluated for Ehlers Danlos Syndrome at Mayo Clinic. Referrals can be submitted by contacting the Referring Physicians Office (800)533-1564 or online: https://www.mayoclinic.org/medical-professionals/provider-relations/refer-a-patient

Ehlers Danlos Syndrome is a group of genetic disorders that affect the connective tissue of the body. It affects about 1 in 5,000 people globally. Symptoms may include loose joints, stretchy skin, and abnormal scar formation. For more information about list of expert doctors, hospitals and ongoing clinical trials visit
https://www.xpertdox.com/disease-description/Ehlers%20Danlos%20Syndrome
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