In this vlog we discuss the skin condition Xeroderma Pigmentosum. Check out the blog here: http://bit.ly/1OcMtOl

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In this episode we will discuss one of the stranger medical complications brought on by a little known disease called Xeroderma Pigmentosum and how the effect of Ultraviolet Radiation radically alters the ability of the body to operate!

Thanks for watching Croatoan Medical and I hope you enjoy " Vampire Syndrome " Xeroderma Pigmentosum DNA Damaged Explained | Effects of UV Radiation on Genes

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NOTES: https://www.medicinecanbeeasy.....com/xeroderma-pigmen

In this video, I am going to talk about the disease xeroderma pigmentosum, its symptoms, and the genetics behind it.

Perfect for life-science students, medical students or anyone interested!

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Disclaimer: This video is intended for educational purposes only and does not in any way constitute medical advice. If you suffer from a medical condition, you must seek a physician. This video does not in any way substitute medical diagnosis, treatment, and any other medical procedures provided by a qualified healthcare provider.

This video talks about Nucleotide excision repair (NER) which is a DNA repair mechanism. Cells use nucleotide excision repair to fix DNA regions containing chemically modified bases, often called chemical adducts, that distort the normal shape of DNA locally . Mutation in XP family genes leads to defect in nucleotide excision repair and are involved in Xeroderma pigmentosum (XP) . Nucleotide excision repair is a well conserved DNA repair mechanism which is transcription coupled.



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Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. “Xero” means dry, “derma” means skin, pigmentosum means pigment. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.

Disclaimer: All the information provided by Medical Education for Visual Learners and associated videos are strictly for informational purposes only. It is not intended as a substitute for medical advice from your health care provider or physician. It should not be used to overrule the advice of a qualified healthcare provider, nor to provide advice for emergency medical treatment. If you think that you or someone that you know may be suffering from a medical condition, then please consult your physician or seek immediate medical attention.



Chapter:
00:00 Introduction of Xeroderma pigmentosum
00:55 Causes of Xeroderma pigmentosum
01:39 Who prone to Xeroderma pigmentosum
02:14 Stages and symptoms of xeroderma pigmentosum
03:50 How is xeroderma pigmentosum diagnosed?
04:17 Treatment for Xeroderma pigmentosum
04:49 Prognose of Xeroderma pigmentosum
05:47 Xeroderma pigmentosum documentary 1
06:35 Xeroderma pigmentosum documentary 2
07:16 Xeroderma pigmentosum documentary 3

Xeroderma pigmentosum was first described in 1874 by Hebra and Moritz Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.

Xeroderma pigmentosum documentary full version links:

The Others (2001) - Xeroderma Pigmentosum: What Is It? - Featurette
https://www.youtube.com/watch?v=IfplLeV-LsQ

We Have 'Vampire Disease'. What is xeroderma pigmentosum, or XP? | Short Doc
https://www.youtube.com/watch?v=4BjWhbzj1YU

Children of the Night
https://www.youtube.com/watch?v=ccdR-Gi3_Xc

Jax's Story | Xeroderma Pigmentosum | Sun Control of Minnesota
https://www.youtube.com/watch?v=oDzHxrTarXA

Allergic to the Sun (Xeroderma Pigmentosum)
https://www.youtube.com/watch?v=oqtIxhSBKq8

Causes of Xeroderma pigmentosum

The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage.

Who is prone to Xeroderma pigmentosum

The disease affects about 1 in 100000 worldwide. By region, it affects about 1 in 370 in India,1 in 20000 in Japan, 1 in 250000 people in the United States, and 1 in 430000 in Europe, It occurs equally common in males and females.

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Background music credit: Storyblocks
Video credit: Storyblocks, youtube
Pictures attribution: google, Cover background DNA HELIX picture designed by Freepik

Xeroderma pigmentosum is a genetic defect caused by a mutation in nucleotide excision repair, which is the DNA repair process used to remove thymine dimers caused by UV light exposure. Thymine dimers are large, bulky lesions, and their presence leads to distortions in the DNA helix. These thymine dimers then may interfere with normal replication, leading to DNA damage in xeroderma pigmentosum patients. The clinical presentation includes extreme sensitivity to sunlight, increased risk for skin cancers, and the development of corneal ulcers. Since there is no definitive treatment, patients with xeroderma pigmentosum simply have to avoid exposure to UV light.

Learn about xeroderma pigmentosum and other biochem topics with Pixorize's USMLE mnemonics. Part of our DNA repair playlist for the USMLE Step 1 exam.

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Xeroderma pigmentosum, or XP, is a rare hereditary disease where patients are unable to repair the cellular damage caused by ultraviolet light.

To learn more about XP and DNA repair go to https://www.clinuvel.com/

#skincancer
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