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A sad story 😔
XP is an extremely rare disorder, I've seen it once in my career. This condition limits the activities of the patient to the night time and avoiding sun light is vital.
Other symptoms are the premature aging of the skin and the risk of skin cancer development.
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Cette femme de 54 ans est victime d’une maladie très rare qui la rend extrêmement sensible au soleil.
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Discovery Science, libérez le geek qui sommeille en vous en sortant la science du laboratoire pour la rendre amusante et pertinente.
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In this video Xeroderma Pigmentosa is explained using a structured question for 1st Year MBBS Student helping how to attempt a structured question.
In a structured question their is no wastage of timing in framing a question but at the same time one must be sure of the answer as it has to be closed ended and more or less predetermined.
Xeroderma pigmentosa 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/Bulky Adducts/pyrimidine Dimers are large, bulky lesions which causes distortions in the DNA helix. These thymine dimers then may interfere with normal replication, leading to DNA damage in xeroderma pigmentosa 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 pigmentosa simply have to avoid exposure to UV light.
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