To meet the diagnostic criteria for pEDS, a person must meet: Major criterion 1 AND two other major criteria AND one minor criterion OR Major criterion 2 AND two other major criteria AND one minor criterion Major Criteria Severe and intractable periodontitis of early onset (childhood or adolescence) Lack of attached gingiva Pretibial plaques Family history of a first-degree relative who meets the clinical diagnostic criteria for pEDS Minor Criteria Easy bruising Joint hypermobility, mostly distal joints Skin hyperextensibility and fragility, abnormal scarring (wide or atrophic) Increased rate of infections Hernias Marfanoid facial features Acrogeria Prominent vasculature Spondylodysplastic EDS (spEDS) If a person meets the diagnostic criteria for spEDS, genetic testing should be done to confirm the diagnosis
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The VDR, which is widely expressed in hippocampal neurons and astrocytes, mediates the transcriptional regulation of antioxidant genes containing VD response elements (VDREs)
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