pseudoxanthoma elasticum การใช้

• Pseudoxanthoma elasticum ( PXE ) is worth consideration in diagnosing a patient.
• "As soon as he looked at it, he said, ` pseudoxanthoma elasticum, "'
• It has also been implicated as cofactor in pseudoxanthoma elasticum.
• Hi-I went to visit the page on Pseudoxanthoma Elasticum to see what condition it was in.
• 80 % of clinical cases of pseudoxanthoma elasticum have detectable mutations in the " ABCC6 " gene.
• Pseudoxanthoma elasticum, myopia and trauma can also cause defects in Bruch's membrane which may lead to choroidal neovascularization.
• One group of supporters has applied for patents on a gene that causes the distressing disease pseudoxanthoma elasticum.
• Their efforts contributed to significant scientific advances, including the discovery of the gene responsible for Pseudoxanthoma elasticum ( PXE ).
• It might ultimately snub the small market : This disease, known as pseudoxanthoma elasticum, or PXE, strikes no more than 1 in 25, 000.
• Other causes include scleroderma, eosinophilic granulomatosis with polyangiitis, cystinosis, lymphoma, Gaucher's disease, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, and Werner's syndrome.
• She is a health advocate in Washington, D . C . She co-founded PXE International when her children were diagnosed with pseudoxanthoma elasticum ( PXE ) in 1994.
• There have also been reports in other genetic conditions, such as autosomal dominant polycystic kidney disease and pseudoxanthoma elasticum, Genetic studies in other connective tissue-related genes have mostly yielded negative results.
• In a culmination of concerted efforts initiated by one determined family, three groups of researchers are reporting that they have found the gene mutation that causes a rare disorder known as pseudoxanthoma elasticum.
• Buschke-Ollendorff syndrome, Menkes disease, pseudoxanthoma elasticum, and Marfan's syndrome have been associated with defects in copper metabolism and lysyl oxidase or defects in the microfibril ( defects in fibrillin, or fibullin for example ).
• They spent that weekend shuffling around a medical library near their Massachusetts home, reading studies of the connective tissue disorder known as PXE, pseudoxanthoma elasticum-a disease marked by deteriorating blood vessels in the stomach and heart, blindness from the cracking of blood vessels in the eyes, and increasingly saggy, plucked-chicken skin.
• Lebwohl was the first to report the cardiac complications of pseudoxanthoma elasticum, and, additionally, he has developed new techniques for diagnosing the disease . the first to use topical calcineurin inhibitors to treat psoriasis; and the first to identify interactions between topical vitamin D analogues such as calcipotriol and calcitriol with other topical medications and with ultraviolet light.