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Witkop Syndrome

PodcastDX

Release Date: 02/07/2023

Multi-Organ Transplant show art Multi-Organ Transplant

PodcastDX

This week we will discuss Multi-Organ transplants with Zachary Colton.  Zach is 35 years old and recently underwent a successful 5 organ multivisceral intestinal transplant surgery at the Toronto General Hospital in his home country of Canada. The organs he received were: stomach, small intestine, colon, liver, and pancreas.   In 1954, . Liver, heart and pancreas transplants were successfully performed by the late 1960s, while lung and intestinal organ transplant procedures were begun in the 1980s. ​From the mid-1950s through the early 1970s, individual transplant hospitals...

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Ectoparasites show art Ectoparasites

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This week we will discuss Ectoparasites.  The CDC says: "Although the term ectoparasites can broadly include blood-sucking arthropods such as mosquitoes (because they are dependent on a blood meal from a human host for their survival), this term is generally used more narrowly to refer to organisms such as ticks, fleas, lice, and mites that attach or burrow into the skin and remain there for relatively long periods of time (e.g., weeks to months). Arthropods are important in causing diseases in their own right, but are even more important as vectors, or transmitters, of many different...

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Pasteurization For Your Health show art Pasteurization For Your Health

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Over 200 years ago Louis Pasteur was born in Dole, France. Among Pasteur's major contributions and their benefit to society, the most important is the heat treatment of foods and beverages to reduce spoilage and eliminate pathogens for consumers. Probably the greatest achievement of Pasteur was the process that bears the name of this famous scientist who perfected the technique: pasteurization. For liquids, this process does not involve boiling the product to sterility but simply applying just enough heat (ie, par-boiling) to 50–60°C for a specified period to reduce spoilage microbes and...

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Spontaneous Pneumothorax with Jack show art Spontaneous Pneumothorax with Jack

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In this episode we are talking again with our audio editor Jack Scaro.  The topic again is: spontaneous pneumothorax, or collapsed lung. Spontaneous pneumothorax is an abnormal condition of the lung characterized by the collection of gas in the pleural space between the lungs and the chest wall. This condition occurs without an obvious etiology and can be classified as either primary or secondary. Patients may present with symptoms such as tachycardia and dyspnea. The diagnosis is based on clinical suspicion and can be confirmed with imaging.  Jack had this condition which surprised...

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Bile acid malabsorption (BAM) part 2 show art Bile acid malabsorption (BAM) part 2

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This week we will continue our coverage of Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger your  to secrete extra water, leading to watery stools. This week we will continue our coverage of Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger...

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Bile Acid Malabsorption show art Bile Acid Malabsorption

PodcastDX

This week we will discuss Bile acid malabsorption (BAM),  a . It’s a common cause of . When bile acids aren’t properly absorbed in your intestines, they build up, upsetting the chemical balance inside. Excess bile acids trigger your  to secrete extra water, leading to watery stools. ​ What are bile acids? Bile is a substance your  makes while filtering your blood. Your liver sorts waste products, such as toxins, dead blood cells and excess cholesterol into bile. Bile acids come from synthesizing these products together. The different acids in bile help...

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Veteran's Hesitancy to Healthcare show art Veteran's Hesitancy to Healthcare

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This week we will discuss a Veteran's hesitancy to receive healthcare at the government hospital system known as Veterans Administration or "VA".  Although many veterans may share the concern over receiving care through a government agency due to the medical care they got while in training or active duty; i.e. sucrettes and tylenol being the standard of care when Jean Marie and I were in training. Our guest, Mark Frerichs, has different reasons to question the quality of care. Mark, a Navy veteran who continued working as a contractor post-war in Afghanistan.  It was during his work...

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Adrenal Insufficiency show art Adrenal Insufficiency

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In this episode we discuss adrenal insufficiency  You can have either primary, secondary, or tertiary adrenal insufficiency. Primary adrenal insufficiency is also called Addison’s disease. When you have this type, your adrenal glands are damaged and can’t make the cortisol you need. They also might not make enough aldosterone. Secondary adrenal insufficiency is more common than Addison’s disease. The condition happens because of a problem with your pituitary gland, a pea-sized bulge at the base of your . It makes a hormone called adrenocorticotropin (ACTH). This is the...

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Heart Attack on a Train show art Heart Attack on a Train

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Have you ever wondered "what would happen if you or a family member had a medical emergency while using public transportation"  Today we feature Bill H. who had a cardiac event after boarding a Chicago Metra train and the two bystanders that weren't about to let these be his LAST train ride!    can help save lives during sudden cardiac arrest. However, even after training, remembering the steps to use an AED the right way can be difficult. In order to help keep your skills sharp, we've created a quick step-by-step guide that you can print up and place on your refrigerator, in...

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EDS and Gastroparesis show art EDS and Gastroparesis

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This week we are speaking with Dani, AKA, Stoned Zebra. It took almost 7 years of her health declining after giving birth, until she finally received her EDS diagnosis. She was initially misdiagnosed with Lupus, Fibromyalgia, Neuropathy, or chronic pain syndrome.  Her gastroparesis, symptoms (bloating, nausea, early satiety, severe constipation, weight loss, dehydration, belching, belly pain) began July 2022, and after a ton of aggressive testing, she was diagnosed in May 2023.  EDS just tacks on chronic pain, joint instability and other comorbidities like POTS, MCAS, and OH that...

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This week we will discuss Witkop Syndrome with Cheryl Kingsford. Cheryl is 44.5 years old, from Boise, Idaho, advocate, survivor of trauma, living with ectodermal dysplasia. Single, no kids of her own, but has cute chihuahua.  She rescued Gina August 5, 2020 after fostering her since May 28, 2020. Gina and Cheryl go on a lot of hiking adventures. Cheryl has a Bachelor of Science in Psychology (Magna Cum Laude) from Boise State University 2010. First in her family.  Does a lot of volunteer work over the years. Cheryl is the National Foundation for Ectodermal Dysplasia Family Driven Lead Advocate for Idaho. She is joining us today to talk about Ectodermal Dysplasia, Witkop’s Syndrome, and for the "Ensuring Lasting Smiles Act"

Witkop is a rare syndrome that can affect the nails teeth and hair. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001) 

Ectodermal Awareness month

This month is Ectodermal Awareness month.  Ectodermal dysplasias are rare genetic disorders that affect about 3 out of 10,000 babies. They cause the parts of the body like hair, teeth, nails, sweat glands and skin to develop and function abnormally. With more than 100+ different types of ectodermal dysplasias, it’s challenging for families to find answers and for healthcare professionals to offer treatments or cures.  Witkop Syndrome is one of these disorders and we are honored to be sharing Cheryl's story today.